august 2003 - servizi.apss.tn.it · and quality of life department of pediatric neurology,...

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November 2002 Graduation Medical School, University of Bern, Switzerland

Residency and Fellowships University Children’s Hospital Zurich, Switzerland

Pediatric Neurology November 2002-June 2003 Research Fellowship

Ospedale Civico Lugano, Switzerland Pediatrics August 2003–July2004 University Children’s Hospital Zurich, Switzerland Pediatrics August 2004–March 2006 Pediatric Neurology April 2006–March 2008 & Neurophysiology Pediatric Intensive Care April 2008–-March 2009 Unit & Neonatology University Hospital Zurich, Switzerland Neurology April 2009–June 2010 The Johns Hopkins University School of Medicine, Baltimore Pediatric Radiology August 2010–July 2015 Research Fellowship Doctorate/MD Thesis July 2004 Craniopharyngioma in children: long-term complications

and quality of life Department of Pediatric Neurology, University Children’s Hospital, University of Zurich

Professional Experience (in chronological order)

Date Position Institution

08/2015- Assistant Professor Department of Radiology and Radiological

Science, The Johns Hopkins University

RESEARCH ACTIVITIES Current Funding/Grants 1. Period: 07/01/2014-07-31-2017

Title: Nanomedicine-Based Therapy for Perinatal White Matter Injury

Identification number: N/A Sponsor: Cerebral Palsy International Research Foundation

Grant Program

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Role: Co-investigator (PI: Michael V. Johnston) Percent effort: 20%

2. Period: 01/01/2015- Title: Clinical and radiological evaluation of PMM2-CDG

patients Identification number: N/A Sponsor: Spain National Institute of Health Carlos III Role: External advisor (PI: Mercedes Serrano) Percent effort: 5% (no salary support)

3. Period: 01/14/2016-07/14/2017

Title: Development of an online data-sharing platform for images of fetal and newborn heads - An urgent need in the context of the Zika virus outbreak

Identification number: ZK/16-061 Sponsor: Medical Research Council, U.K. Role: Co-investigator (PI: Stephen Kennedy) Percent effort: 5% (no salary support)

Pending Funding/Grants 1. Period:

Title: Adult Biomarkers in Neonatal Brain Injury and Development Matter

Identification number: Sponsor: R01-National Institute of child Health and Human

Development Role: Co-investigator (PI: Allen Everett) Percent effort: 20%

Previous Grant 1. Period: 04/01/2008-03-31-2008

Title: Kleinhirnmalformationen: Beitrag zu Definition, Bildgebung, und Outcome Identification number: N/A Sponsor: Donation UBS by order of a client Role: PI Percent effort: 50%

2. Period: 08/01/2010-07-31-2011

Title: Diffusion Tensor Imaging (DTI) in neonates and children: Mechanisms of normal and abnormal development of the cerebellum

Identification number: PBZHP3-133288 Sponsor: Swiss National Science Foundation Role: PI Percent effort: 100%

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3. Period: 08/01/2011-07-31-2012

Title: Diffusion Tensor Imaging (DTI) in der pädiatrischen hinteren Schädelgrube:Mechanismen der normalen und pathologischen Entwicklung des Cerebellums

Identification number: N/A Sponsor: Anna Mueller Grocholski-Foundation Role: PI Percent effort: 100%

Publications, peer reviewed 1. Poretti A, Grotzer MA, Ribi K, Schönle E, Boltshauser E.

Outcome of craniopharyngioma in children: long-term complications and quality of life. Dev Med Child Neurol 2004, 46(4): 220-229

2. Poretti A, Boltshauser E, Loenneker T, Valente EM, Brancati F, Il’Yasov K,

Huisman TA. Diffusion tensor imaging in Joubert syndrome. AJNR Am J Neuroradiol 2007, 28(10): 1929-1933

3. Poretti A, Boltshauser E, Plecko B.

Brainstem disconnection: case report and review of the literature. Neuropediatrics 2007, 38(4): 210-212

4. Poretti A, Zehnder D, Boltshauser E, Grotzer MA.

Outcome of intraspinal tumors in children: long-term complications and quality of life. Pediatr Blood Cancer 2008, 50(4): 844-848

5. Gerber NU, Zehnder D, Zuzak T, Poretti A, Boltshauser E, Grotzer MA.

Outcome of children brain tumours diagnosed in the first year: long-term complications and quality of life. Arch Dis Child 2008, 93(7): 582-589

6. Poretti A, Wolf NI, Boltshauser E.

Differential diagnosis of cerebellar atrophy in childhood. Eur J Paediatr Neurol 2008, 12(3): 155-167

7. Poretti A, Bartholdi D, Gobara S, Dietrich Alber F, Boltshauser E.

Gómez-López-Hernández syndrome: an easily missed diagnosis. Eur J Med Genet 2008, 51(3): 197-208

8. Poretti A, Brehmer U, Scheer I, Bernet V, Boltshauser E.

Prenatal and neonatal magnetic resonance imaging findings in oral-facial-digital syndrome type VI. AJNR Am J Neuroradiol 2008, 29(6): 1090-1091

9. Poretti A, Dietrich Alber F, Bürki S, Toelle SP, Boltshauser E.

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Cognitive long-term outcome in children with rhombencephalosynapsis. Eur J Paediatr Neurol 2009, 13(1): 28-33

10. Poretti A, Leventer RJ, Cowan FM, Rutherford MA, Steinlin M, Klein A, Scheer I,

Huisman TA, Boltshauser E. Cerebellar cleft: a form of prenatal cerebellar disruption. Neuropediatrics 2008, 39(2): 106-112

11. Zuzak TJ, Poretti A, Drexel B, Zehnder D, Boltshauser E, Grotzer MA.

Outcome of children with low-grade cerebellar astrocytoma: long-term complications and quality of life. Childs Nerv Syst 2008, 24(12): 1447-1455

12. Poretti A, Anheier T, Zimmermann R, Boltshauser E.

Neural tube defects in Switzerland from 2001 to 2007: Are periconceptual folic acid recommendations being followed? Swiss Medical Weekly 2008, 138(41-42): 608-613

13. Poretti A, Prayer D, Boltshauser E.

Morphological spectrum of prenatal cerebellar disruptions. Eur J Paediatr Neurol 2009, 13(5): 397-407

14. Dill P, Poretti A, Boltshauser E, Huisman TA.

Fetal magnetic resonance imaging in midline malformations of the central nervous system and review of the literature. J Neuroradiol 2009, 36(3): 138-146

15. Sturm V, Leiba H, Menken MN, Valente EM, Poretti A, Landau K, Boltshauser E.

Ophthalmologic findings in Joubert Syndrome. Eye 2010, 24(2): 222-225

16. Rauscher C, Poretti A, Neuhann TM, Forstner R, Hahn G, Koch J, Tinschert S,

Boltshauser E. Pontine tegmental cap dysplasia: the severe end of the clinical spectrum. Neuropediatrics 2009, 40(1): 43-46

17. Poretti A, Lips U, Belvedere M, Schmitt B.

Onychomadesis: a rare side-effect of valproic acid medication. Pediatr Dermatology 2009, 26(6): 749-767

18. Poretti A, Huisman TA, Cowan FM, Del Giudice E, Jeannet PY, Prayer D,

Rutherford MA, du Plessis AJ, Limperopoulos C, Boltshauser E. Cerebellar cleft: confirmation of the neuroimaging pattern. Neuropediatrics 2009, 40(5): 228-233

19. Poretti A, Dietrich Alber F, Brancati F, Dallapiccola B, Valente EM, Boltshauser E.

Normal cognitive functions in Joubert syndrome. Neuropediatrics 2009, 40(6): 287-290

20. Poretti A, Limperopoulos C, Roulet-Perez E, Wolf NI, Rauscher C, Prayer D, Müller

A, Weissert M, Kotzaeridou U, du Plessis AJ, Huisman TA, Boltshauser E.

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Outcome of severe unilateral cerebellar hypoplasia. Dev Med Child Neurol 2010, 52(8): 718-724

21. Poretti A, Balmer C.

Wolff-Parkinson-White syndrome in a child with recurrent seizures. Cardiol Young 2010, 20(1): 78-79

22. Sukhudyan B, Jaladyan V, Melikyan G, Schlump JU, Boltshauser E, Poretti A.

Gómez-López-Hernández syndrome: Reappraisal of the diagnostic criteria. Eur J Pediatr 2010, 169(12): 1523-1529

23. Poretti A, Meoded A, Zu E, Boltshauser E, Huisman TA.

Postnatal in-vivo MRI findings in anencephaly. Neuropediatrics 2010, 41(6): 264-266

24. Chalian M, Tekes A, Meoded A, Poretti A, Huisman TA.

Susceptibility Weighted Imaging (SWI): a potential non-invasive imaging tool for characterizing ischemic brain injury? J Neuroradiol 2011, 38 (3): 187-190

25. Harting I, Kotzaeridou U, Poretti A, Seitz A, Pietz J, Bendzus M, Boltshauser E.

Interpeduncular heterotopias in Joubert syndrome: A previously undescribed MR finding. AJNR Am J Neuroradiol 2011, 32(7): 1286-1289

26. Meoded A, Poretti A, Yoshida, S, Huisman TA.

Leukoencephalopathy with vanishing white matter: Serial MRI of the brain and spinal cord including diffusion tensor imaging. Neuropediatrics 2011, 42(2): 82-85

27. Poretti A, Huisman TA, Scheer I, Boltshauser E.

Joubert Syndrome and Related Disorders: Spectrum of Neuroimaging Findings in 75 Patients. AJNR Am J Neuroradiol 2011, 32(8): 1426-1429

28. Meoded A, Poretti A, Tekes A, Flammang A, Pryde S, Huisman TA.

Prenatal MR diffusion tractography in a fetus with complete corpus callosum agenesis. Neuropediatrics 2011, 42(3): 122-123

29. Meoded A, Singhi S, Poretti A, Eran A, Tekes A, Huisman TA.

Tectorial membrane injury: frequently overlooked in pediatric traumatic head injury. AJNR Am J Neuroradiol 2011, 32(10): 1806-1811

30. Meoded A, Turan S, Harman C, Poretti A, Zinreich J, Huisman TA.

Pre- and postnatal ultrasound and magnetic resonance imaging of intracranial extraaxial glioneural heterotopia. Fetal Diagn Ther 2011, 30(4): 314-316.

31. Poretti A, Singhi S, Huisman TA, Meoded A, Jallo GI, Ozturk A, Boltshauser E, Tekes A.

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Tecto-cerebellar dysraphism with occipital encephalocele: not a distinct disorder, but part of the Joubert syndrome spectrum? Neuropediatrics 2011, 42(4): 170-174

32. Deib G, Poretti A, Meoded A, Cohen KJ, Raymond GV, Abromowitch M, Huisman

TA. Onset of adreno-leukodystrophy after medulloblastoma therapy: causal connection or coincidence? J Inherit Metab Dis Reports 2012, 2: 29-32

33. Chokshi FH, Poretti A, Meoded A, Huisman TA.

Normal and abnormal development of the cerebellum and brainstem as depicted by diffusion tensor imaging. Semin Ultrasound CT MR 2011, 32(6): 539-554

34. Poretti A, Meoded A, Huisman TA.

Neuroimaging of pediatric posterior fossa tumors including review of the literature. J Magn Reson Imaging 2012, 35(1): 32-47

35. Pinto PS, Poretti A, Meoded A, Tekes A, Huisman TA.

The unique features of traumatic brain injury in children. Review of the characteristics of the pediatric skull and brain, mechanisms of trauma, patterns of injury, complications and their imaging findings – Part 1. J Neuroimaging 2012, 22(2): e1-e17

36. Pinto PS, Meoded A, Poretti A, Tekes A, Huisman TA.

The unique features of traumatic brain injury in children. Review of the characteristics of the pediatric skull and brain, mechanisms of trauma, patterns of injury, complications and their imaging findings – Part 2. J Neuroimaging 2012, 22(2): e18-e41

37. Verschuuren S, Poretti A, Buerki S, Lequin MH, Huisman TA.

Susceptibility Weighted Imaging of the pediatric brain AJR Am J Roentgenol 2012, 198(5): W440-449

38. Huisman TA, Poretti A.

Brain tumors in children. Pediatr Radiol 2012, 42(9 supll 3): S446-448

39. Nickerson JP, Richner B, Santy K, Lequin MH, Poretti A, Filippi CG, Huisman TA.

Neuroimaging of pediatric intracranial infection – Part 1: Techniques and bacterial infections. J Neuroimaging, 2012, 22(2): e42-e51

40. Nickerson JP, Richner B, Santy K, Lequin MH, Poretti A, Filippi CG, Huisman TA.

Neuroimaging of pediatric intracranial infection – Part 2: TORCH, viral, fungal and parasitic infections. J Neuroimaging, 2012, 22(2): e52-e63

41. Poretti A, Chalian M, Meoded A, Huisman TA.

“Tumor-like” lesions of the pediatric brain.

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J Pediatr Neuroradiol, 2012, 1(4): 261-267. 42. Meoded A, Poretti A, Northington FJ, Tekes A, Intrapiromkul J, Huisman TA.

Susceptibility weighted imaging of the neonatal brain. Clin Radiol, 2012, 67(8): 793-801

43. Huisman TA, Tekes A, Poretti A.

Brain malformations and fetal ventriculomegaly: What to look for? J Pediatr Neuroradiol, 2012, 1(3): 185-195 (invited article)

44. Huisman TA, Graham EM, Tekes A, Poretti A.

MRI of fetal spinal malformations. J Pediatr Neuroradiol, 2012, 1(3): 211-223 (invited article)

45. Poretti A, Vitiello G, Hennekam RCM, Arrigoni F, Bertini E, Borgatti R, Brancati F,

D’Arrigo S, Faravelli F, Giordano L, Huisman TA, Iannicelli M. Kluger G, Kyllerman M, Landgren M, Lees MM, Pinelli L, Romaniello R, Scheer I, Schwarz CE, Spiegel R, Tibussek D, Valente EM, Boltshauser E. Delineation and diagnostic criteria of Oral-Facial-Digital syndrome type VI. Orphanet J Rare Dis, 2012, 7: 4

46. Aguilera-Albesa S, Poretti A, Honnef D, Aktas M, Yoldi-Petri E, Huisman TA,

Häusler M. T2-hyperintense signal of the central tegmental tracts in children: Disease or normal maturational process? Neuroradiology, 2012, 54(8): 863-871

47. Poretti A, Meoded A, Rossi A, Raybaud C, Huisman TA.

Diffusion tensor imaging and fiber tractography in brain malformations. Pediatr Radiol, 2013, 43(1): 28-54 (invited article).

48. Poretti A, Mall V, Smitka M, Grunt S, Risen S, Toelle SP, Benson JE, Yoshida S,

Jung NH, Tinschert S, Neuhann TM, Rauch A, Steinlin M, Meoded A, Huisman TA, Boltshauser E. Macrocerebellum: significance and pathogenic considerations. Cerebellum, 2012, 11(4): 1026-1036.

49. Meoded A, Poretti A, Dzirasa L, Izbudak I, Huisman TA.

Abnormal course of the cortico-spinal tracts in the brainstem revealed by DTI/tractography. Neurographics, 2012, 2(3): 139-143.

50. Poretti A, Blaser SI, Lequin MH, Fatemi A, Meoded A, Northington FJ, Boltshauser

E, Huisman TA. Neonatal neuroimaging findings in inborn errors of metabolism. J Magn Reson Imaging 2013, 37(2): 294-312.

51. Dill P, Bosemani T, Bhakta M, Poretti A, Huisman TA.

Impact of fetal magnetic resonance imaging on the management of fetal ventriculomegaly: Evaluation of 38 cases with an included synopsis. J Pediatr Neuroradiol, 2012, 1(4): 269-281.

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52. Toelle SP, Poretti A, Scheer I, Huisman TA, Boltshauser E.

Bannayan-Riley-Ruvacalba syndrome with progressive spinal epidural lipomatosis. Neuropediatrics, 2012, 43(4): 221-224.

53. Ebert MD, Esenkaya A, Huisman TA, Bienstock J, Ozlem Kalayci T, Poretti A,

Tekes A. Multimodality, anatomical and diffusion weighted fetal imaging of a spontaneously thrombosing congenital dural sinus malformation. Neuropediatrics, 2012, 43(5): 279-282.

54. Poretti A, Risen S, Meoded A, Northington FJ, Johnston MV, Boltshauser E,

Huisman TA. Cerebellar agenesis: an extreme form of cerebellar disruption in preterm neonates J Pediatr Neuroradiol, 2013, 2(2): 163-167.

55. Poretti A, Benson JE, Huisman TA, Boltshauser E.

Acute ataxia in children: approach to clinical presentation and role of additional investigations Neuropediatrics, 2013, 44(3): 127-141.

56. Ozlem Kalayci T, Tekes A, Huisman TA, Poretti A.

Chiari II malformation and syntelencephaly in a young woman: Coincidence or pathogenetic association? Clin Neuroradiol, 2013, 23(4): 319-321.

57. Meoded A, Poretti A, Ilica AT, Perez R, Jallo G, Burger PC, Huisman TA, Izbudak I.

Diffusion tensor imaging in a child with hypertrophic olivary degeneration Cerebellum, 2013, 12(4): 469-474.

58. Verschuuren SI, Poretti A, Meoded A, Izbudak I, Huisman TA.

Diffusion tensor imaging and fiber tractography in syntelencephaly Neurographics, 2013, 3(4): 164-168.

59. Travaglini L, Brancati F, Silhavy J, Iannicelli M, Nickerson E, Elkhartoufi N, Scott E,

Spencer E, Gabriel S, Thomas S, Ben-Zeev B, Bertini E, Boltshauser E, Chaouch M, Cilio MR, de Jong MM, Kayserili H, Ogur G, Poretti A, Signorini S, Uziel G, Zaki MS, the International JSRD Study Group, Johnson C, Attié-Bitach T, Gleeson JG, Valente EM. Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders. Eur J Hum Genet, 2013, 21(10): 1074-1078.

60. Poretti A, Palla A, Tarnutzer AA, Petersen JA, Weber KP, Straumann D, Jung HH.

Vestibular impairment in patients with Charcot-Marie-Tooth disease. Neurology, 2013, 80(23): 2099-2105.

61. Messina SA, Poretti A, Tekes A, Robertson C, Johnston MV, Huisman TA.

Early predictive value of susceptibility weighted imaging (SWI) in pediatric hypoxic-ischemic injury. J Neuroimaging, 2014, 24(5): 528-530.

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62. Meoded A, Poretti A, Benson JE, Tekes A, Huisman TA.

Evaluation of the ischemic penumbra focusing on venous drainage: the role of susceptibility weighted imaging (SWI) in pediatric ischemic stroke J Neuroradiol, 2014, 41(2): 108-116.

63. Poretti A, Meoded A, Cohen KJ, Grotzer MA, Boltshauser E, Huisman TA.

Apparent diffusion coefficient of pediatric cerebellar tumors: a biomarker of tumor grade? Pediatr Blood Cancer, 2013, 60(12): 2036-2041.

64. Meoded A, Poretti A, Tekes A, Huisman TA.

Role of susceptibility-weighted imaging in predicting stroke evolution. Neurographics, 2013, 3(4): 159-163.

65. Bosemani T, Verschuuren S, Poretti A, Huisman TA.

Pitfalls in susceptibility-weighted imaging of the pediatric brain J Neuroimaging, 2014, 24(3): 221-225.

66. Gipson TT, Jennett H, Wachtel L, Gregory M, Poretti A, Johnston MV.

Everolimus and intensive behavioral therapy in an adolescent with tuberous sclerosis complex and severe behavior Epilepsy & Behavior Case Reports, 2013, 1: 122-125.

67. Orman G, Tekes A, Poretti A, Robertson C, Huisman TA.

Posttraumatic carotid artery dissection in children: not to be missed! J Neuroimaging, 2014, 24(5): 467-472.

68. Bosemani T, Felling R, Wyse E, Pearl MS, Tekes A, Ahn E, Poretti A, Huisman TA.

Neuroimaging findings in children with Keutel syndrome Pediatr Radiol, 2014, 44(1): 73-78.

69. Hergan B, Atar OD, Poretti A, Huisman TA.

Serial fetal MRI for the diagnosis of Aicardi syndrome Neuroradiol J, 2013, 26(4): 380-384.

70. Bosemani T, Poretti A, Huisman TA.

Susceptibility-weighted imaging in pediatric neuroimaging. J Magn Reson Imaging 2014, 40(3): 530-544.

71. Bosemani T, Meoded A, Poretti A.

Susceptibility-weighted imaging in pantothenate kinase associated neurodegeneration. J Pediatr 2014, 164(1): 212.

72. Poretti A, Hausler M, von Moers A, Baumgartner B, Zerres K, Klein A, Aiello C,

Moro F, Zanni G, Santorelli FM, Huisman TA, Weis J, Valente EM, Bertini E, Boltshauser E. Ataxia, intellectual disability and ocular apraxia with cerebellar cysts: a new disease? Cerebellum, 2014, 13(1): 79-88.

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73. Bosemani T, Poretti A, Orman G, Tekes A, Pearl M, Huisman TA.

Moyamoya disease and syndrome in children: Spectrum of neuroimaging findings including differential diagnosis J Pediatr Neuroradiol, 2014, 3(1): 3-12.

74. Orman G, Benson JE, Kweldam CF, Bosemani T, Tekes A, de Jong R, Seyfert D,

Northington FJ, Poretti A, Huisman TA. Neonatal Head Ultrasonography Today: a powerful imaging tool! J Neuroimaging, 2015, 25(1): 31-55.

75. Orman G, Bosemani T, Tekes A, Poretti A, Huisman TA.

Scout images in pediatric CT neuroradiological evaluation: do not underestimate! Childs Nerv Syst, 2014, 30(2): 307-311.

76. Bosemani T, Jasien J, Johnston MV, Huisman TA, Poretti A, Northington FJ.

Neonatal neuroimaging findings in congenital myotonic dystrophy. J Perinatol, 2014, 34(2): 159-160.

77. Bosemani T, Burton VJ, Felling RJ, Leigh R, Oakley C, Poretti A, Huisman TA. Pediatric hemiplegic migraine: Role of multiple MRI techniques in evaluation of reversible hypoperfusion. Cephalalgia, 2014, 34(4): 311-315.

78. Bosemani T, Zanni G, Hartman AL, Cohen R, Huisman TA, Bertini E, Poretti A.

Christianson syndrome: spectrum of neuroimaging findings. Neuropediatrics, 2014, 45(4): 247-251.

79. Poretti A, Meoded A, Bunge M, Fatemi A, Barrette P, Huisman TA, Salman MS.

Novel diffusion tensor imaging findings in Krabbe disease. Eur J Paediatr Neurol, 2014, 18(2): 150-156.

80. Bosemani T, Anghelescu C, Boltshauser E, Hoon AH, Pearl PL, Craiu D, Johnston

MV, Huisman TA, Poretti A. Subthalamic nucleus involvement in children: a neuroimaging pattern-recognition approach. Eur J Paediatr Neurol, 2014, 18(3): 249-256.

81. Bosemani T, Poretti A, Orman G, Meoded A, Huisman TA.

Pediatric cerebral stroke: Susceptibility-weighted imaging may predict post-ischemic malignant edema. Neuroradiol J, 2013, 26(5): 579-83.

82. Orman G, Bosemani T, Jallo GI, Huisman TA, Poretti A.

Hypertrophic olivary degeneration in a child following midbrain tumor resection: longitudinal diffusion tensor imaging studies J Neurosurg Pediatr, 2014, 13(4): 408-13.

83. Alqahtani E, Huisman TA, Boltshauser E, Scheer I, Güngör T, Tekes A, Maegawa

GH, Poretti A. Mucopolysaccharidoses type I and II: new neuroimaging findings in the cerebellum.

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Eur J Paediatr Neurol, 2014, 18(2): 211-217. 84. Poretti A, Bosemani T, Huisman TA.

Neuroimaging findings in pediatric propofol infusion syndrome. Pediatr Neurol, 2014, 50(4): 431-432.

85. Bosemani T, Huisman TA, Poretti A.

Anti-Ma2-associated paraneoplastic encephalitis in an adolescent male with mediastinal seminoma. Pediatr Neurol, 2014, 50(4): 433-434.


Benign frontal horn cysts in a preterm infant. J Perinatol, 2014, 34(6): 488.

87. Koshy J, Scheurkogel MM, Clough L, Huisman TA, Poretti A, Bosemani T.

Neuroimaging findings of retroclival hemorrhage in children: a diagnostic conundrum. Childs Nerv Syst, 2014, 30(5): 835-9.

88. Ferreira C, Poretti A, Cohen J, Hamosh A, Naidu S.

Novel TUBB4A mutation and expansion of the neuroimaging phenotype of hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC). Am J Med Genet A, 2014, 164(7): 1802-1807.

89. Huisman TA, Bosemani T, Poretti A.

Diffusion Tensor Imaging for Brain Malformations: Does it Help? Neuroimaging Clin N Am, 2014, 24(4): 619-637.

90. Poretti A, Christen HJ, Elton LE, Baumgartner M, Korenke GC, Sukhudyan B,

Hethey S, Cross E, Steinlin M, Boltshauser E. Horizontal head titubation in infants with Joubert syndrome: a new finding. Dev Med Child Neurol, 2014, 56(10): 1016-1020.

91. Bosemani T, Orman G, Carson KA, Meoded A, Huisman TA, Poretti A.

Diffusion tensor imaging of the brainstem in children with achondroplasia. Dev Med Child Neurol, 2014, 56(11): 1085-1092.

92. Eshetu T, Meoded A, Jallo GI, Carson BS, Huisman TA, Poretti A.

Diffusion tensor imaging in pediatric Chiari type I malformation. Dev Med Child Neurol, 2014, 56(8): 742-748.

93. Huisman TA, Phelps T, Bosemani T, Tekes A, Poretti A.

Parturitional injury of the head and neck. J Neuroimaging, 2015, 25(2): 151-166.

94. Kweldam CF, Gwynn H, Vashist A, Hoon AH, Huisman TA, Poretti A.

Undecussated superior cerebellar peduncles and absence of the dorsal transverse pontine fibers: a new axonal guidance disorder? Cerebellum, 2014, 13(4): 536-540.

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95. Wagner MW, Poretti A, Wang T, Crawford TO, Huisman TA, Bosemani T. Susceptibility-Weighted Imaging for Calcification in Cockayne syndrome J Pediatr, 2014, 165(2): 416.

96. Bosemani T, Poretti A, Benson JE, Meyer A, Huisman TA.

Clinicoradiological correlation of scoliosis in children with Jarcho-Levin and Escobar syndromes: Associated "Flat bone or wing-like" imaging findings Eur J Pediatr, 2014, 173(10): 1377-1380.

97. Poretti A, Boltshauser E, Doherty D.

Cerebellar hypoplasia: differential diagnosis and diagnostic approach (invited article) Am J Med Genet Part C, 2014, 166(2): 211-226.

98. Gipson T, Gerner G, Srivastava S, Poretti A, Vaurio R, Hartman A, Johnston MV.

Early Neurodevelopmental Screening in TSC: A Potential Window of Opportunity Pediatr Neurol, 2014, 51(3): 398-402.

99. Ertan G, Zan E, Yousem DM, Ceritoglu C, Tekes A, Poretti A, Huisman TA.

Diffusion tensor imaging of neurofibromatosis bright objects in children with neurofibromatosis type 1 Neuroradiol J, 2014, 27(5): 616-626.

100. Tang X, Yoshida S, Hsu J, Huisman TA, Faria AV, Oishi K, Kutten K, Poretti A, Li

Y, Miller MI, Mori S. Multi-constrast multi-atlas parcellation of diffusion tensor imaging of the human brain PLoS One, 2014, 9(5): e96985

101. Vernon HJ, Sperati CJ, King JD, Poretti A, Miller N, Sloan J, Venditti C, Cameron

AM, Myers D, Valle D. A detailed analysis of methylmalonic acid kinetics during hemodialysis and after combined liver/kidney transplantation in relationship to acute neurologic complications in a patient with mut0methylmalonic acidemia. J Inherit Metab Dis, 2014, 37(6): 899-907.

102. Poretti A, Boltshauser E, Huisman TA.

Congenital brain abnormalities: an update on malformations of cortical development and infratentorial malformations. Semin Neurol, 2014, 34(3): 239-248 (invited article).

103. Tekes A, Poretti A, Scheurkogel MM, Huisman TA, Howlett JA, Alqahtani E, Lee

JH, Parkinson C, Shapiro K, Chung SE, Jennings JM, Gilmore MM, Hogue CW, Martin L, Koehler RC, Northington FJ, Lee JK. Apparent diffusion coefficient scalars correlate with near infrared spectroscopy markers of cerebrovascular autoregulation in neonates cooled for perinatal hypoxic ischemic injury. AJNR Am J Neuroradiol, 2015, 36(1): 188-193.

104. Bosemani T, Orman G, Boltshauser E, Tekes A, Huisman TA, Poretti A.

Congenital abnormalities of the posterior fossa. Radiographics, 2015, 35(1): 200-220.

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105. Izbudak I, Acer N, Poretti A, Gumus K, Zararsiz G. Macrocerebellum: a case report. Turk Neurosurg, 2015, 25(6): 948-953.

106. Huisman TA, Wagner MW, Bosemani T, Tekes A, Poretti A.

Pediatric spinal trauma. J Neuroimaging, 2015, 25(2): 151-166.

107. Eckart Sorte D, Poretti A, Newsome S, Boltshauser E, Huisman TA, Izbudak I.

Longitudinally extensive myelopathy in children: a pictorial essay. Pediatr Radiol, 2015, 45(2): 244-257.

108. Wagner MW, Haileselassie B, Kannan S, Chen C, Poretti A, Tunkel D, Huisman

TA. Oropharyngeal dermoid cyst in an infant with intermittent airway obstruction. Neuroradiol J, 2014, 27(5): 627-631.

109. Bosemani T, Orman G, Hergan B, Carson KA, Huisman TA, Poretti A.

Achondroplasia in children: Correlation of ventriculomegaly, size of foramen magnum and jugular foramina, and emissary vein enlargement. Childs Nerv Syst, 2015, 31(1): 129-133.

110. Lee RW, Poretti A, Cohen JS, Levey E, Gwynn H, Johnston MV, Hoon AH, Fatemi A. A diagnostic approach for cerebral palsy in the genomic era. NeuroMolecular Medicine, 2014, 16(4): 821-844.

111. Polan RM, Poretti A, Huisman TA, Bosemani T. Susceptibility weighted imaging in pediatric arterial ischemic stroke: A valuable alternative for the non-invasive evaluation of altered cerebral hemodynamics. AJNR Am J Neuroradiol, 2015, 36(4): 783-788.

112. Orman G, Bosemani T, Higgins L, Carson KA, Huisman TA, Poretti A. Pediatric cerebellar tumors: Does ADC analysis of solid, contrast enhancing tumor components correlate better with tumor grade than ADC analysis of the entire tumor? J Neuroimaging, 2015, 25(5): 785-91

113. Wagner MW, Vaught AJ, Poretti A, Blakemore KJ, Huisman TA. Vein of Galen aneurysmal malformation: prognostic markers in fetal MRI. Neuroradiol J, 2015, 28(1): 72-75.

114. Romani M, Mancini F, Micalizzi A, Poretti A, Miccinilli E, Accorsi P, Bertini E, Borgatti R, Romaniello R, Ceylaner S, Coppola G, D’Arrigo S, Giordano L, Janecke AR, Ludwig K, Martorell L, Mazza T, Pinelli L, Poo P, Santucci M, Signorini S, Simonati A, Spiegel R, Stanzial F, Steinlin M, Tabarki B, Wolf NI, Boltshauser E, Valente EM. Oral-facial-digital syndrome type VI: is C5orf42 really the major gene? Hum Genet, 2015, 134(1): 123-126.

115. Meoded A, Katipally R, Bosemani T, Huisman TA, Poretti A.

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Structural connectivity analysis reveals abnormal brain connections in agenesis of the corpus callosum in children. Eur Radiol, 2015, 25(5): 1471-1478.

116. Poretti A, Wagner MW, Bosemani T. The role of neuroimaging in congenital abnormalities of the posterior fossa. Austin J Neurol Disord Epilepsy, 2014, 1(2): 9.

117. Patay Z, Blaser SI, Poretti A, Huisman TA. Metabolic diseases of childhood. Pediatr Radiol, 2015, 45 Suppl 3: 473-484.

118. Boltshauser E, Scheer I, Huisman TA, Poretti A. Cerebellar cysts in children: a pattern-recognition approach. Cerebellum, 2015, 14(3): 308-316.

119. Wagner MW, Bosemani T, Oshmyansky A, Poretti A, Huisman TA. Neuroimaging findings in pediatric cerebral sinovenous thrombosis. Childs Nerv Syst, 2015, 31(5): 705-712.

120. Poretti A, Denecke J, Miller DC, Schiffmann H, Hendrik Buhk J, Grange DK, Doherty D, Boltshauser E. Brainstem disconnection: Two additional patients and expansion of the phenotype. Neuropediatrics, 2015, 46(2): 139-144.

121. Hayashi M, Poretti A, Gorra M, Farzin A, Graham EM, Huisman TA, Northington FJ. Prenatal cerebellar hemorrhage: fetal and postnatal neuroimaging findings and postnatal outcome. Pediatr Neurol, 2015, 52(5): 529-534.

122. Bosemani T, Baum J, Meoded A, Boltshauser E, Huisman TA, Poretti A. Impaired growth and abnormal microstructure of supratentorial gray and white matter regions in a child with Joubert syndrome. Neurographics, 2015, 5(5): 209-216.

123. Polan RM, Poretti A, Scheller JM, Huisman TA, Bosemani T. Retinal hemorrhages in non-accidental trauma: look at susceptibility-weighted imaging on pediatric MRI! Pediatr Neurol, 2015, 52 (4): 464-465.

124. Toelle SP, Poretti A, Weber P, Seute T, Bromberg JE, Scheer I, Boltshauser E. Cerebellar hypoplasia and dysmorphia in neurofibromatosis type 1. Cerebellum, 2015, 14(6): 642-649.

125. Wagner MW, Poretti A, Huisman TA, Bosemani T. Conventional and advanced (DTI/SWI) neuroimaging findings in pediatric oligodendroglioma. Childs Nerv Syst, 2015, 31(6): 885-891.

126. Orman G, Wagner MW, Seeburg D, Zamora CA, Oshmyansky A, Tekes A, Poretti

A, Jallo GI, Huisman TA, Bosemani T.

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Pediatric skull fracture diagnosis: Should three-dimensional CT reconstructions be added as a routine? J Neurosurg Pediatr, 2015, 16(4): 426-431.

127. Sun LR, Felling RJ, Poretti A, Bosemani T. T1 hyperintensity of the pediatric neural axis: what to consider? J Pediatr, 2015, 167(2): 497.

128. Selvitop O, Poretti A, Huisman TA, Wagner MW. Cerebral sinovenous thrombosis in a child with Crohn disease, otitis media and meningitis. Neuroradiol J, 2015, 28(3): 274-277.

129. Amir T, Poretti A, Boltshauser E, Huisman TA. Differential diagnosis of ventriculomegaly and brainstem kinking on fetal MRI. Brain Dev, 2016, 38(1): 103-108

130. Poretti A, Boltshauser E. Terminology in morphological anomalies of the cerebellum does matter! Cerebellum Ataxias, 2015, 2:8.

131. Poretti A, Boltshauser E, Huisman TA. Pre- and postnatal neuroimaging of congenital cerebellar abnormalities. Cerebellum, 2016; 15(1): 5-9.

132. Gipson TT, Poretti A, Thomas E, Jenkins K, Desai S, Johnston MV. Autism phenotypes in tuberous sclerosis complex: diagnostic and treatment considerations. J Child Neurol, 2015, 30(14): 1871-1876.

133. Wagner MW, Narajan AK, Bosemani T, Huisman TA, Poretti A.

Histogram analysis of diffusion tensor imaging parameters in pediatric cerebellar tumors. J Neuroimaging, 2016; 26(3): 360-365.

134. Michael GA, Poretti A, Huisman TA. Neuroimaging findings in encephalocraniocutaneous lipomatosis. Pediatr Neurol, 2015, 53(5): 462-463.

135. Kontzialis M, Poretti A, Michell H, Bosemani T, Tekes, Huisman TA. Spinal nerve root enhancement on MRI scans in children: a review. J Neuroimaging, 2016, 26(2): 169-179.

136. Poretti A, Wolf NI, Boltshauser E. Differential diagnosis of cerebellar atrophy in childhood: An update. Neuropediatrics, 2015, 46(6): 359-370.

137. Wagner MW, Kontzialis M, Seeburg D, Stern SW, Oshmyansky A, Poretti A,

Huisman TA. Acute brain imaging in children: Can MRI replace CT as a screening tool? J Neuroimaging, 2016, 26(1): 68-74.

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138. Fiori S, Poretti A, Pannek K, Del Punta R, Pasquariello R, Tosetti M, Guzzetta A, Rose S, Cioni G, Battini R. Diffusion tractography biomarkers of pediatric cerebellar hypoplasia/atrophy: preliminary results by using constrained spherical deconvolution AJNR Am J Neuroradiol, 2015, epub Dec 10.

139. Trachsel T, Balmer C, Wahlander H, Weber R, Dave H, Poretti A, Kretschmar O, Cavigelli-Brunner A. Does central venous pressure impact head growth in Fontan circulation? Cardiol Young, 2016, epub Jan 15.

140. Gerner G, Burton V, Poretti A, Bosemani T, Cristofalo E, Tekes A, Seyfert D, Parkinson C, Leppert M, Allen M, Huisman TAGM, Northington FJ, Johnston MV. Transfontanellar duplex brain ultrasonography resistive indices as a prognostic tool in neonatal hypoxic-ischemic encephalopathy before and after treatment with therapeutic hypothermia J Perinatol, 2016, 36(3): 202-206.

141. Poretti A, Capone A, Hackenberg A, Kraegeloh-Mann I, Kurlemann G, Laube G,

Pietz J, Schimmel M, Schwindt W, Scheer I, Boltshauser E. Cerebellar bottom-of-fissure dysplasia - a novel cerebellar gray matter neuroimaging pattern Cerebellum, 2015, epub Nov 2.

142. Meoded A, Faria AV, Hartman AL, Jallo GI, Mori S, Johnston MV, Huisman TA,

Poretti A. Cerebral reorganization after hemispherectomy: A DTI study AJNR Am J Neuroradiol, 2016, epub Jan 14.

143. Wagner MW, Stern SE, Oshmyansky A, Huisman TA, Poretti A. The role of ADC-based thermometry in measuring brain intraventricular temperature in children J Neuroimaging, 2016; 26(3): 315-323.

144. Poretti A, Boltshauser E, Huisman TA. Cerebellar and brainstem malformations Neuroimaging Clin N Am, 2016, in press.

145. Poretti A, Boltshauser E, Huisman TA. Prenatal cerebellar disruptions: Neuroimaging spectrum of findings in correlation with likely mechanisms and etiologies of injury Neuroimaging Clin N Am, 2016, in press.


Neurocutaneous syndromes with cerebellar involvement Neuroimaging Clin N Am, 2016, in press.

147. Bosemani T, Steinlin M, Toelle S, Beck J, Boltshauser E, Huisman TA, Poretti A. Pseudotumoral hemicerebellitis as a mimicker of Lhermitte-Duclos disease in children: does neuroimaging help to differentiate them? Child’s Nerv Syst, 2016, 32(5): 865-871.

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148. Vilboux T, Malicdan MC, Chang YM, Gullinane AR, Bryant J, Fischer R, Brooks BP,

Zein WM, Wiggs EA, Zalewski CK, Poretti A, Bryan MM, Vemulapalli M, Mullikin JC, Kirby M, Anderson SM, NISC Comparative Sequencing Program, Huizing M, Toro C, Gahl WA, Gunay-Aygun M. Cystic cerebellar dysplasia and biallelic LAMA1 mutations: a lamininopathy associated with tics, obsessive compulsive traits, and myopia due to cell adhesion and migration defects. J Med Genet, 2016, 53(5): 318-329.

149. Klein JL, Lemmon ME, Northington FJ, Boltshauser E, Huisman TA, Poretti A.

Clinical and neuroimaging features as diagnostic guides in neonatal neurology diseases with cerebellar involvement Cerebellum Ataxias, 2016, 3:1.

150. Meoded A, Bosemani T, Boltshauser E, Scheer I, Huisman TA, Poretti A. Diffusion tensor imaging and fiber tractography of pediatric posterior fossa malformations Neurographics, 2016, accepted.

151. Poretti A, Bosemani T. Cystic malformations within the posterior fossa Curr Radiol Rep, 2016, 4:17.

152. Micalizzi A, Poretti A, Romani M, Ginevrino M, Mazza T, Aiello C, Zanni G, Baumgartner B, Borgatti R, Brockmann K, Camacho A, Cantalupo G, Haeusler M, Hikel C, Klein A, Mandrile G, Mercuri E, Rating D, Romaniello R, Santorelli FM, Schimmel M, Spaccini L, Teber S, von Moers A, Wente S, Ziegler A, Zonta A, Bertini E, Boltshauser E, Valente EM. Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome) Eur J Hum Genet, 2016, epub March 2.

153. Wagner MW, Bell WR, Kern J, Bosemani T, Mhlanga J, Carson KA, Cohen KJ,

Raabe EH, Rodriguez F, Huisman TA, Poretti A. Diffusion tensor imaging suggests extrapontine extension of pediatric diffuse intrinsic pontine gliomas Eur J Radiol, 2016, 85(4): 700-706.

154. Yahyavi-Firouz-Abadi N, Poretti A, Idowu OR, Hoon AH, Huisman TA, Izbudak I. Middle Interhemispheric Variant of Holoprosencephaly Radiology 2016, in press.

155. Roosing S, Romani M, Isrie M, Ozgur Rosti R, Micalizzi A, Musaev D, Mazza T, Al-Gazali L, Altunoglu U, Boltshauser E, D’Arrigo S, De Keersmaecker B, Kayserili H, Brandenberger S, Kraoua I, Mark PR, McKanna T, Van Keirsbilck J, Moerman P, Poretti A, Puri R, van Esch H, Gleeson JG, Valente EM. Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes J Med Genet, 2016, accepted.

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156. Azin AN, Poretti A, Turchi Martelli CM, Huisman TA. Head Computed Tomography Findings in Microcephaly Associated with Zika Virus. N Engl J Med, 2016, epub April 6.

157. Poretti A, Ashmawy R, Garzon-Muvdi T, Jallo GI, Huisman TA, Raybaud C.

Chiari type 1 deformity in children: pathogenetic, clinical, neuroimaging, and management aspects. Neuropediatrics, 2016, accepted.

158. Bosemani T, Poretti A.

Cerebellar disruptions and neurodevelopmental disabilities. Semin Fetal Neonatal Med, 2016, accepted.

159. Poretti A, Meoded A, Fatemi A. Diffusion tensor imaging: a biomarker of outcome in Krabbe disease J Neurosci Res, 2016, accepted.

Editorials, other articles (not peer reviewed) 1. Poretti A, Boltshauser E. "Rhombencephalosynapsis Associated with Dandy-Walker Malformation" is a Molar

Tooth Malformation. J Neuroimaging, 2009, 19: 198 (letter to the editor) 2. Poretti A, Leventer RJ, Cowan FM, Rutherford MA, Steinlin M, Klein A, Scheer I,

Huisman TA, Boltshauser E. “Cerebellar cleft”: eine neue Form einer pränatalen zerebellären Disruption. Neuropädiatrie in Klinik und Praxis, 2009, 8(3): 69-72 (invited article)

3. Poretti A, Bartholdi D, Gobara S, Dietrich Alber F, Boltshauser E.

Gómez-López-Hernández Syndrom: eine leicht verpasste Diagnose. Neuropädiatrie in Klinik und Praxis, 2009, 8(3): 73-76 (invited article)

4. Poretti A.

“Cerebellar cleft”: eine neue Form einer pränatalen zerebellären Disruption. Kind & Radiologie, 2009, 20(2): 6-9 (invited article)

5. Poretti A, Limperopoulos C, Roulet-Perez E, Wolf NI, Rauscher C, Prayer D, Müller

A, Weissert M, Kotzaeridou U, du Plessis AJ, Huisman TA, Boltshauser E. Outcome von Kindern mit schwerer einseitiger Kleinhirnhypoplasie. Neuropädiatrie in Klinik und Praxis, 2010, 9(2): 58-62 (invited article)

6. Poretti A, Boltshauser E. "Arima syndrome and bilateral retinoblastoma in intersitial deletion of 13q14.13-

q32.3": where is the molar tooth sign?" Brain Dev, 2011, 33(5): 445 (letter to the editor) 7. Poretti A

Cognitive functions in children with cerebellar malformations.

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Dev Med Child Neurol, 2011, 53(5): 389 (invited commentary) 8. Poretti A

Influence of cerebellar malformations on the cerebral volume: does it matter? Dev Med Child Neurol, 2011, 53(12): 1074-1075 (invited commentary)

9. Huisman TA, Poretti A

Congenital brain anomalies AJNR Am J Neuroradiol, 2011, 32(Supplement): S3

10. Poretti A, Huisman TA, Scheer I, Boltshauser E.

Neuroradiologisches Spektrum bei 75 Patienten mit Joubert Syndrom und assoziierten Erkrankungen. Neuropädiatrie in Klinik und Praxis, 2012, 11(1): 4-9 (invited article)

11. Poretti A, Grotzer MA. Neuroblastoma with spinal cord compression: is there an emergency management

of choice? Dev Med Child Neurol, 2012, 54(4): 297-298 (invited commentary)

12. Poretti A, Hartman AL, Huisman TA.

MRI in pediatric status epilepticus: not a routine, but a more focused indication Dev Med Child Neurol, 2012, 54(4): 295-296 (invited commentary)

13. Poretti A, Boltshauser E.

Crossed cerebro-cerebellar diaschisis Neuropediatrics, 2012, 43(2): 53-54 (invited editorial)

14. Poretti A, Valk J, Huisman TA.

Magnetic resonance imaging pattern-recognition approach in pediatric intracranial calcifications Dev Med Child Neurol, 2013, 55(1): 7-8 (invited commentary)


Dominantly inherited nonprogressive cerebellar hypoplasia identified in utero - a note of doubt J Child Neurol, 2013, 28(2): 278 (letter to the Editor)

16. Poretti A, Huisman TA.

Functional neuroimaging may quantify spinal cord demyelinating disease. Neurology, 2013, 80(24): 2207 (invited commentary)


Nationwide survey of Arima syndrome: a note of doubt Brain Dev, 2014, 36(1): 88 (letter to the editor) 18. Poretti A, Boltshauser E, Valente EM.

The molar tooth sign is pathognomonic for Joubert syndrome! Pediatr Neurol, 2014, 50(6): e15-6 (letter to the editor). 19. Izbudak I, Poretti A, Lequin MH.

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Commentary on “A novel semi-quantitative scale for classification of structural brain MRI in children with cerebral palsy” Dev Med Child Neurol, 2014, 56(9): 801-802 (invited commentary).

20. Boltshauser E, Poretti A. Normvarianten und Zufallsbefunde in der pädiatrischen MR-Diagnostik Neuropädiatrie in Klinik und Praxis, 2015, 14(2): 40-44. 21. Poretti A, Boltshauser E. Fetal diagnosis of rhombencephalosynapsis Neuropediatrics, 2015, 46(6): 357-358 (invited editorial) 22. Bosemani T, Poretti A.

Pediatric skull fracture diagnosis: Should three-dimensional CT reconstructions be added as a routine?

J Neurosurg Pediatr, 2015, in press (letter to the editor, reply) 23. Bosemani T, Poretti A, Huisman TA.

Value of susceptibility-weighted imaging in the evaluation of altered brain perfusion in children

Neuropediatrics, 2016, 47(1): 3-4 (invited editorial) 24. Poretti A, Northington FJ.

Brain injury in neonatal incontinentia pigmenti: the role of a multimodality neuroimaging approach including conventional and advanced MRI sequences Dev Med Child Neurol, 2016, in press (invited commentary)

Book chapters 1. Poretti A, Huisman TA, Tolnay M, Brehmer U, Schmitt B, Boltshauser E (2008)

Beteiligung der Pons bei schwerer hypoxisch-ischaemischer Enzephalopathie bei termingeborenen. In: Aktuelle Neuropädiatrie 2007. Editor: Staudt F. pp. 257-261, Novartis Pharma Verlag Nürnberg.

2. Poretti A, Boltshauser E, Valente EM, Huisman TA (2008) Diffusion Tensor Imaging

bei Joubert Syndrome. In: Aktuelle Neuropädiatrie 2007. Hrsg.: Staudt F. pp. 371-374, Novartis Pharma Verlag Nürnberg.

3. Poretti A, Boltshauser E, Schmahmann JD (2012) Cerebellar agenesis. In:

Cerebellar disorders in children. Editors: Boltshauser E, Schmahmann JD. pp. 117-121, Mac Keith Press.

4. Poretti A, Boltshauser E (2012) Cerebellar hypoplasia. In: Cerebellar disorders in

children. Editors: Boltshauser E, Schmahmann JD. pp. 122-134, Mac Keith Press. 5. Boltshauser E, Poretti A (2012) Non-progressive congenital ataxia. In: Cerebellar

disorders in children. Editors: Boltshauser E, Schmahmann JD. pp. 135-139, Mac Keith Press.

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6. Poretti A, Millen KJ, Boltshauser E (2012) Dandy-Walker Malformation. In: Cerebellar disorders in children. Editors: Boltshauser E, Schmahmann JD. pp. 140-148, Mac Keith Press.

7. Poretti A, Boltshauser E (2012) Cerebellar dysplasia. In: Cerebellar disorders in

children. Editors: Boltshauser E, Schmahmann JD. pp. 172-176, Mac Keith Press. 8. Poretti A, Klein A, Boltshauser E (2012) Cerebellar cysts and neuroimaging in

congenital muscular dystrophies. In: Cerebellar disorders in children. Editors: Boltshauser E, Schmahmann JD. pp. 177-183, Mac Keith Press.

9. Poretti A, Boltshauser E (2012) Rhombencephalosynapsis and Gomez-Lopez-

Hernandez syndrome. In: Cerebellar disorders in children. Editors: Boltshauser E, Schmahmann JD. pp. 184-191, Mac Keith Press.

10. Poretti A, Boltshauser E (2012) Macrocerebellum. In: Cerebellar disorders in

children. Editors: Boltshauser E, Schmahmann JD. pp. 192-193, Mac Keith Press. 11. Poretti A, Boltshauser E (2012) Hemicerebellar megalencephaly. In: Cerebellar


12. Poretti A, Boltshauser E (2012) Brainstem disconnection. In: Cerebellar disorders in

children. Editors: Boltshauser E, Schmahmann JD. pp. 198-201, Mac Keith Press. 13. Poretti A, Boltshauser E (2012) Pontine tegmental cap dysplasia. In: Cerebellar


14. Poretti A, Boltshauser E (2012) Brainstem malformations associated with cerebellar

abnormalities. In: Cerebellar disorders in children. Editors: Boltshauser E, Schmahmann JD. pp. 208-211, Mac Keith Press.

15. Poretti A, Scheer I, Boltshauser E (2012) Posterior fossa cysts and cyst-like

malformations (Blake’s pouch cyst, arachnoid cysts, mega cistern magna). In: Cerebellar disorders in children. Editors: Boltshauser E, Schmahmann JD. pp. 212-216, Mac Keith Press.

16. Poretti A, Boltshauser E (2012) Prenatal cerebellar disruptions. In: Cerebellar


17. Poretti A, Boltshauser E, Schmahmann JD (2012) Neurodegeneration in

Langerhans cell histiocytosis. In: Cerebellar disorders in children. Editors: Boltshauser E, Schmahmann JD. pp. 351-357, Mac Keith Press.

18. Boltshauser E, Poretti A (2012) Paraneoplastic cerebellar degeneration in

paediatric Hodgkin disease. In: Cerebellar disorders in children. Editors: Boltshauser E, Schmahmann JD. p. 358, Mac Keith Press.

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19. Poretti A, Boltshauser E (2012) Toxic agents. In: Cerebellar disorders in children. Editors: Boltshauser E, Schmahmann JD. pp. 392-393, Mac Keith Press.

20. Poretti A, Boltshauser E (2012) Gluten ataxia. In: Cerebellar disorders in children.

Editors: Boltshauser E, Schmahmann JD. pp. 394-395, Mac Keith Press. 21. Poretti A, Boltshauser E (2012) Checklists. In: Cerebellar disorders in children.

Editors: Boltshauser E, Schmahmann JD. pp. 397-427, Mac Keith Press. 22. Poretti A, Huisman TA, Boltshauser E (2014) Cystic malformations of the posterior

fossa. In: Paediatric neurological disorders with cerebellar involvement: Diagnosis and management. Editors: D’Arrigo S, Riva D, Valente EM. pp. 109-120, John Libbey Eurotext.

23. Boltshauser E, Poretti A (2014) Cerebellum - small brain but large confusion:

reappraisal 10 years later. In: Paediatric neurological disorders with cerebellar involvement: Diagnosis and management. Editors: D’Arrigo S, Riva D, Valente EM. pp. 3-7, John Libbey Eurotext.

24. Izbudak I, Poretti A, Huisman TA, Lequin MH (2014) Neuroimaging in cerebral

palsy. In: Cerebral palsy: science and clinical practice. Editor: Dan B, Mayston M, Paneth N, Rosenbloom L. pp. 241-277, Mac Keith Press.

25. Poretti A, Boltshauser E (2014) Overview of ataxias in children. In: Essentials of

cerebellum and cerebellar disorders. Editors: Gruol D, Koibuchi N, Manto M, Schmahmann J, Shen Y. pp. in press, Springer.

26. Huisman TA, Poretti A (2014) Pediatric neuroimaging trauma. In: Neuroimaging.

Editors Masdeu JC, Gonzalez RG. pp. in press, Elsevier. 27. Doherty D, Poretti A (2015) Structural disorders of the cerebellum and brainstem.

In: Swaiman’s Pediatric Neurology: Principles and Practice (sixth edition). Editors Swaiman KF, Ashwal S, Ferriero DM, Schor NF, Finkel RS, Gropman AL, Pearl PL, Shevell MI. in press, Elsevier.

28. Poretti A, Johnston MV (2015). Genetic disorders and stroke. In: Neurobiology of

Disease (second edition). Editors: Johnston MV, Adams HP, Fatemi A. in press, Oxford University Press.

29. Huisman TA, Poretti A (2015) Disorders of brain development. In: Magnetic

Resonance Imaging of the Brain and Spine (fifth edition). Editor: Atlas SW. in press, Lippincott Williams & Wilkins.

30. Nagarajan L, Poretti A, Huisman TA, Ghosh S (2015) Predictors of

Neurodevelopmental Outcome in babies with Neonatal Seizures. In: Neonatal Seizures: Current management, future challenges. International Review of Child Neurology Series. Editor: Nagarajan L. in press, MacKeith Press.

31. Huisman TA, Poretti A (2015) Pediatric neurovascular imaging

(CT/MRI/Ultrasound). In: Pediatric vascular neurosurgery: a comprehensive guide to pediatric neurosurgical disorders & its management. Editor: Britz GW. In press, Springer.

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32. Huisman TA, Poretti A (2016) Doppler sonography of the neonatal and infant brain. In: Diagnostic Ultrasound. Editors: Carol M. Rumack, Deborah Levine. In press, Elsevier.

Books 1. Poretti A, Huisman TA (2015). Neonatal head and spine ultrasonography. Springer.

2. Huisman TA, Poretti A (2016). The pediatric cerebellum. Elsevier.

TEACHING and EDUCATIONAL ACTIVITIES

Lectures and Seminars 1. Neuropediatrics Classes for Nurses, Höhere Fachschule Pflege, Careum Bildungszentrum, Zürich, Switzerland 2006-2010 2. Multidisciplinary Updates in Pediatric Radiology Division of Pediatric Radiology, The Johns Hopkins Hospital, Baltimore, MD 1 hour per month during the entire year (co-organizer) Since 2014 3. Research Update in Pediatric Neuroradiology Division of Pediatric Radiology, The Johns Hopkins Hospital, Baltimore, MD 1 hour per month during the entire year (co-organizer) Since 2014 4. Pediatric Neuroimaging Teaching for Fellows and Residents

Kennedy Krieger Institute, Baltimore, MD 1 hour every month during the entire year (organizer) Since 2015 Clinical instruction 1. Clinical Course in Pediatrics for medical students

University of Zurich, Switzerland 2006-2010

Mentoring (pre- and post-doctoral) 1. Avner Meoded, MD (since September 2010): Radiology JHH 2. Sylvia Verschuuren, MD (June 2011-July 2011): International observer Radiology

JHH 3. Tadesse Eshetu, MD (September 2011-June 2012): Radiology JHH 4. Eman Alqhatani, MD (April 2012-April 2013): Radiology JHH 5. Thangamadhan Bosemani, MD (since July 2012): Radiology JHH

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6. Merel Scheurkogel, MD (October 2012-Novemebr 2012): International observer Radiology JHH

7. Tanjala Gipson, MD (since October 2012): KKI 8. Charlotte Kweldam, MD (November 2012- December 2012): International observer

Radiology JHH 9. Gunes Orman, MD (December 2012-December 2013): Radiology JHH 10. Benedikt Hergan, medical student (July 2013-August 2013): International observer

Radiology JHH 11. Jeffrey Baum, undergraduate student (July 2013-August 2014): Observer, Radiology

JHH 12. Eric Newman, MD (November 2013-Decemebr 2013): Observer, Radiology JHH 13. Gewndolyn Gerner, PhD (since January 2014): KKI 14. Lauren Pringle, MD (January-June 2014): Radiology JHH 15. Matthias Wagner, MD (since February 2014): Radiology JHH 16. Rosa Polan, medical student (June 2014-April 2015): Radiology JHH 17. Tali Amir, MD (June 2014-May 2015): Radiology JHH 18. Monica Lemmon, MD (July 2014-July 2015): Pediatric Neurology JHH 19. George Michael, undergraduate student (December 2014-August 2015): Radiology

JHH 20. Alaysia Barrot, undergraduate student (since December 2014): Radiology JHH 21. Nishant Aggarwal, medical student (June-July 2015): International observer

Radiology JHH 22. Joseph Pauly, medical student (June-July 2015): Observer Radiology JHH 23. Reema Goel, MD (August 2015-February 2016): Radiology JHH 24. Komli-Kofi Atsina, MD (since December 2015): Radiology JHH 25. Nihaal Reddy, MD (since March 2016): Radiology JHH Invited Continuing Medical Educational (CME) Lectures National 1. Outcome of craniopharyngioma in children: long-term complications and quality of

life Updates in Pediatrics, University Children’s Hospital of Zurich

Zurich, January 11, 2006

2. Kopfschmerzen: Migräne, Spannungskopfschmerzen, aber wann wird es gefährlich?

Neurofahrschule der schweizerische Gesellschaft für Neuropädiatrie Hasliberg, January 20, 2007 3. Kopfschmerzen: Yoga, Brille oder MRI?

Dienstagsfortbildung der pädiatrischen Klinik, University Children’s Hospital of Zurich Zurich, March 13, 2007

4. Von Hodenvergrösserung zum intraspinalen Tumor: Diagnose eines von-Hippel-

Lindau-Syndroms Updates in Pediatrics, University Children’s Hospital of Zurich

Zurich, March 14, 2007

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5. Verlauf von intraspinalen Tumoren bei Kindern: Spätfolgen und Lebensqualität Updates in Pediatrics, University Children’s Hospital of Zurich

Zurich, July 13, 2007 6. Was machen nach dem ersten Krampfanfall: evidenz-basierte Beurteilung Updates in Pediatrics, University Children’s Hospital of Zurich

Zurich, August 7, 2007 7. Zeig mir Deinen Backenzahn: Zahnheilkunde in der Neuropädiatrie MTRA Kongress Zurich, November 3, 2007 8. Kongenitale Ataxie Kletterkurs der schweizerische Gesellschaft für Neuropädiatrie Zurich, November 23, 2007 9. Leukodystrophien und neurodegenerative Erkrankungen im Kindesalter Classes for Nurses, Höhere Fachschule Pflege, Careum Bildungszentrum, Zurich Zurich, November 30, 2007 10. Outcome von intraspinalen Tumoren bei Kindern: Spätfolgen und Lebensqualität

Updates in Pediatrics, University Children’s Hospital of Zurich Zurich, January 16, 2008

11. Kopfschmerzen: Migräne, Spannungskopfschmerzen, aber wann wird es

gefährlich? Neurofahrschule der schweizerische Gesellschaft für Neuropädiatrie Hasliberg, January 19, 2008 12. Status epilepticus und WPW-Syndrom: Koinzidenz oder multisystemische

Erkrankung? Updates in Pediatrics, University Children’s Hospital of Zurich

Zurich, January 24, 2008 13. Zerebelläre Atrophie: bildgebende und klinische Aspekte Updates in Pediatric Neurology, University Children’s Hospital of Zurich Zurich, February 27, 2008 14. Medizinische Spinale Notfälle Updates in Pediatric Neurology, University Children’s Hospital of Zurich Zurich, March 5, 2008 15. Myelomeningozele Intensive Care Unit, University Children’s Hospital of Zurich Zurich, June 11, 2008 16. Ahornsirupkrankheit Intensive Care Unit, University Children’s Hospital of Zurich Zurich, July 23, 2008

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17. Medizinische spinale Notfälle Emergency Department, University Children’s Hospital of Zurich Zurich, August 14, 2008 18. Kopfschmerzen im Kindesalter Herbsttagung der SVO Zurich, October 4, 2008 19. Neuralrohrdefekte Intensive Care Unit, University Children’s Hospital of Zurich Zurich, October 6, 2008 20. Floppy infant Intensive Care Unit, University Children’s Hospital of Zurich Zurich, November 6, 2008 21. Pränatale Kleinhirndisruptionen: Definition, Klinik, Neuroradiologie Updates in Pediatric Neurology, University Children’s Hospital of Zurich Zurich, February 25, 2009 22. Zerebelläre Missbildungen und Disruptionen: ein Überblick Intensive Care Unit, University Children’s Hospital of Zurich Zurich, March 4, 2009 23. Leukodystrophien und neurodegenerative Erkrankungen im Kindesalter Classes for Nurses, Höhere Fachschule Pflege, Careum Bildungszentrum, Zurich Zurich, May 8, 2009 24. Leukodystrophien und neurodegenerative Erkrankungen im Kindesalter Classes for Nurses, Höhere Fachschule Pflege, Careum Bildungszentrum, Zurich Zurich, October 30, 2009 25. Zahnheilkunde in der Neuropädiatrie Updates in Neurology, University Hospital of Zurich Zurich, March 12, 2010 26. Bilddiagnostische Fallbeispiele aus der pädiatrischen hinteren Schädelgrube Updates in Neurology, University Hospital of Zurich Zurich, May 7, 2010 27. Leukodystrophien und neurodegenerative Erkrankungen im Kindesalter Classes for Nurses, Höhere Fachschule Pflege, Careum Bildungszentrum, Zurich Zurich, May 12, 2010 28. Okulomotorische Fallbeispiele aus der Neuropädiatrie Donnerstag Fortbildung Neurologische Klinik, University Hospital of Zurich Zurich, June 17, 2010 29. To cross or not to cross: what is the problem? Updates in Neurology, University Hospital of Zurich Zurich, July 20, 2010

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30. Advances in neuroimaging of Joubert syndrome and related disorders Multidisciplinary Updates in Pediatric Radiology, Johns Hopkins Hospital Baltimore, June 2, 2011 31. Advances in neuroimaging of Joubert syndrome and related disorders

10th Biennal Conference of the Joubert syndrome & Related Disorders Foundation Orlando, July 13-16, 2011 32. Neuroimaging of the pediatric cerebellum: update form our research (Part 1)

Multidisciplinary Updates in Pediatric Radiology, Johns Hopkins Hospital Baltimore, July 26, 2012

33. Neuroimaging of the pediatric cerebellum: update form our research (Part 2)

Multidisciplinary Updates in Pediatric Radiology, Johns Hopkins Hospital Baltimore, July 26, 2012

34. More than a tooth: Joubert syndrome and related disorders

Interdisciplinary Clinical Genetics Conference, Kennedy Krieger Institute Baltimore, January 9, 2013

35. To cross or not to cross: what is the problem?

Human Spinal Physiology Unit, Division of Intramural Research, National Institute of Neurological Disorders and Stroke, National Institutes of Health Bethesda, February 21, 2013

36. MRI in CP and CP-mimickers

Multidisciplinary Updates in Pediatric Radiology, Johns Hopkins Hospital Baltimore, February 28, 2013

37. Differential diagnosis of congenital hydrocephalus

Interdisciplinary Clinical Genetics Conference, Kennedy Krieger Institute Baltimore, June 12, 2013

38. Ping-pong case conference: neurologist vs. neuroradiologist (together with Dr. T.A.

Huisman) Johns Hopkins Neuroradiology Review Long Beach, September 20, 2013

39. Neuroimaging basics

Neuropsychology Seminar, Kennedy Krieger Institute Baltimore, September 23, 2013

40. Diagnostic approach to the ataxic childNeuroimaging basics

67th Annual Meeting of the American Academy for Cerebral Palsy and Developmental Medicine Milwaukee, October 17, 2013

41. To cross or not to cross: this is the problem

Neuroradiology lectures, Division of Neuroradiology, Johns Hopkins Hospital Baltimore, November 20, 2013

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42. Mimickers of hypoxic-ischemic injury

The Johns Hopkins NeuroSciences Intensive Care Nursery: Foundations in Neurological Care of the Newborn Baltimore, April 30, 2014

43. The role of neuroimaging in congenital abnormalities of the posterior fossa

DoD Seminar, National Children’s Hospital Washington D.C., May 30, 2014

44. Diffusion tensor imaging in Chiari I malformation

Research group monthly meeting of the International Chiari research group Akron, August 1, 2014 45. Imaging of the pediatric brain, spinal cord and muscle: cerebellum: tools and clinical

application 68th Annual Meeting of the American Academy for Cerebral Palsy and Developmental Medicine San Diego, September 11, 2014

46. Diffusion tensor imaging: analysis options in pediatric neuroimaging research

68th Annual Meeting of the American Academy for Cerebral Palsy and Developmental Medicine San Diego, September 12, 2014

47. Neuroimaging evaluation of non-progressive cerebellar ataxia

43rd Annual Meeting of the Child Neurology Society Columbus, October 24, 2014

48. Diffusion tensor imaging in Chiari I malformation

Conquer Chiari Research Conference 2014 Akron, November 7-8, 2014

49. Joubert syndrome: from the molar tooth to primary cilia and axonal guidance -

53rd Annual Meeting of the American Society of Neuroradiology Chicago, April 25-30, 2015

50. Brain malformations

27th Annual Meeting of the Eastern Neuroradiological Society Newport, September 4-7, 2015

51. Application of advanced neuroimaging techniques to study the pediatric brain: the

Johns Hopkins Pediatric Radiology experience Translational Imaging Research Seminar, St. Jude Children's Research Hospital Memphis, September 22, 2015

52. Cerebellar malformations

Johns Hopkins Neuroradiology Review Baltimore, October 1, 2015

53. Precision medicine: Application to posterior fossa disorders in children

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Pediatric Neurology Grand Rounds, The Johns Hopkins Hospital Baltimore, February 24, 2016

54. Non-progressive cerebellar ataxia Kennedy Krieger Institute Baltimore, March 1, 2016

International 55. Diffusion tensor imaging in Joubert syndrome

9th Biennal Conference of the Joubert syndrome & Related Disorders Foundation Cincinnati, July 15-18, 2009

56. Cerebellar disruptions

Multidisciplinary Updates in Pediatric Radiology, Johns Hopkins Hospital Baltimore, January 21, 2010

57. Cerebellar disruptions Focus on cerebellar disorders, Swiss Society of Pediatric Neurology Zurich, January 21, 2011 58. Postnatale Diagnose von abnormen Gehirnentwicklung. BrainFair 2011 Zurich, March 18, 2011 59. To cross or not to cross: what is the problem? Updates in Pediatric Neurology, University Children’s Hospital of Zurich Zurich, March 23, 2011 60. To cross or not to cross: what is the problem? Updates in Neurology, Neurocenter of Southern Switzerland Lugano, March 23, 2011 61. Joubert syndrome and related disorders: spectrum of neuroimaging findings in 75

patients Annual meeting of the Swiss Society of Paediatrics

Montreux, September 1, 2011 62. Differential diagnosis of pediatric cerebellar atrophy

12th International Child Neurology Congress Brisbane, May 27-June 1, 2012

63. Neuroimaging in pediatric cerebellar disorders

Romanian Pediatric Neurology Summer School 2012 Bucharest, June 25-28, 2012

64. Acute ataxia in children


65. Cerebellar malformations and disruptions

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66. Pediatric posterior fossa tumors


67. Cerebellar involvement in neurocutaneous disorders


68. Imaging of the pediatric brain, spinal cord and muscle: cerebellum: tools and

application 66th Annual Meeting of the American Academy for Cerebral Palsy and Developmental Medicine Toronto, September 13, 2012

69. Dandy-Walker syndrome and other cystic malformations of the posterior fossa

Mariani Foundation’s XXV Update course on paediatric neurological disorders with cerebellar involvement: diagnosis and management. Rome, March 7-8, 2013

70. Atassia pediatrica: cosa fare?

Formazione interospedaliera di pediatria, Ente ospedaliero cantonale Bellinzona, May 2, 2013

71. Basics of diffusion tensor imaging

MRIStudio Tutorial Kursu, Erciyes University Kayseri, October 30-November 1, 2013

72. Diffusion tensor imaging in children


73. Diffusion tensor imaging in children: not only brain!


74. Diffusion tensor imaging applied to Chiari I malformation and achondroplasia

International Hydrocephalus Imaging Working Group (IHIWG). Bristol, UK, September 5, 2014

75. To cross or not to cross: That is the problem

University Children’s Hospital of Geneva Geneva, April 22, 2015

76. Neonatal neuroimaging

41st Annual Meeting of the Society for Neuropediatrics Basel, April 23-26, 2015

77. Neuroimaging of the cerebellum in the fetus and malformations of the cerebellum

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7th International Symposium of the Society for Research on the Cerebellum Brussels, May 8-10, 2015

78. Late fetal/premature cerebellum: the challenges

13th Congress of European Society of Magnetic Resonance in Neuropediatrics Porto, May 14-16, 2015

79. Cerebellar involvement in neurocutaneous disorders

13th Congress of European Society of Magnetic Resonance in Neuropediatrics Porto, May 14-16, 2015

80. Precision medicine: application to posterior fossa disorders in children.

Pediatric Neurology Grand Rounds, University Children’s Hospital of Bern Bern, May 9, 2016

81. Precision medicine: application to posterior fossa disorders in children.

Pediatric Neurology Grand Rounds, University Children’s Hospital of Zurich Zurich, May 11, 2016

82. MRI features of congenital cerebellar disorders in children. Visiting Professorship, University of Navarra Pamplona, May 16-17, 2016

83. Differential diagnosis of cerebellar atrophy in children: A pattern-recognition approach. Visiting Professorship, University of Navarra Pamplona, May 16-17, 2016

84. Effects of prematurity on cerebellar development.

39th Annual Meeting of the Spanish Pediatric Neurology Society Toledo, May 19-21, 2016

85. Infratentorial malformations: classification and genes involved. 39th Annual Meeting of the Spanish Pediatric Neurology Society Toledo, May 19-21, 2016

86. Child macrocephaly: does neuroimaging help to reach a diagnosis?

44th Annual Meeting of the Société Européenne de Neurologie Pédiatrique Lugano, May 19-21, 2016

CLINICAL ACTIVITIES Certification 1. Swiss Medical License (November 26, 2002)

2. Swiss Board Certification FMH Pediatrics (2009)

3. Swiss Board Examination FMH Pediatric Neurology (2010)

33

4. ECFMG Certification (August 22, 2014)

(FMH: Foederatio Medicorum Helveticorum, Swiss Medical Association)

ORGANIZATIONAL ACTIVITIES Editorial and Review Activities 1. Acta Pediatrica

2. American Journal of Medical Genetics A

3. American Journal of Neuroradiology

4. Annals of Indian Academy of Neurology

5. Annals of Clinical and Translational Neurology

6. Archives of Disease in Childhood

7. BMC Neurology

8. BMC Research Notes

9. Brain

10. British Journal of Radiology

11. Cerebral Cortex

12. Cerebellum & Ataxias (Editorial Board Member since 2015)

13. Clinical Genetics

14. Cortex

15. Dataset Papers in Neurology (Editorial Board Member since 2012)

16. Developmental Medicine and Child Neurology

17. Epilepsia

18. European Journal of Medical Genetics

19. European Journal of Paediatric Neurology

20. European Journal of Pediatrics

21. European Radiology

22. Frontiers in Neuro-otology

23. Genes

24. Human Molecular Genetics

25. Imaging in Medicine

26. International Journal of Radiology (Editorial Board Member since 2014)

27. ISRN Pediatrics (Editorial Board Member since 2012)

34

28. Journal of Anatomy

29. Journal of Magnetic Resonance Imaging

30. Journal of Neuroimaging (Editorial Board Member since 2015)

31. Journal of Neurophysiology and Neurological Disorders (Editorial Board Member

since 2014)

32. Journal of Neurosciences in Rural Practice

33. Journal of Pediatric Neurology

34. Journal of Pediatric Neuroradiology

35. Minerva Pediatrica

36. Nature Cell Biology

37. Neuroimage Clinical

38. Neurology

39. Neuropediatrics

40. Neuroradiology

41. Orphanet Journal of Rare Diseases

42. Pediatric Blood and Cancer

43. Pediatric Neurology

44. Pediatric Radiology

45. Pediatrics

46. Swiss Archives of Neurology and Psychiatry

47. The Neuroradiology Journal

Conference Organizer 1. 12th International Child Neurology Association (ICNA) Congress, 2012

Brisbane, 27.05-01.06.2012

Scientific Exhibition Jury

2. 53rd Annual Meeting of the American Society of Neuroradiology, 2015

Chicago, April 25-30, 2015

Co-organizer of the pediatric sessions

3. 28th Annual Meeting of the Eastern Neuroradiological Society, 2016

Quebec City, August 11-14, 2016

Co-organizer of the pediatric sessions

Professional Societies

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1. FMH, Foederatio Medicorum Helveticorum, Swiss Medical Association

Member since 2002

2. Swiss Society of Paediatrics

Member since 2006

3. Society for Neuropediatrics (German speaking)

Member since 2006

4. European Paediatric Neurology Society

Member since 2009

5. Society for Research on Cerebellum

Member since 2008

6. American Society of Neuroradiology

Member since 2012

7. American Society of Pediatric Neuroradiology

Member since 2012

8. American Academy for Cerebral Palsy and Developmental Medicine

Member since 2012

Committees’ membership 1. Program/education committee of the American Society of Pediatric Neuroradiology

(since 2015)

2. Neuroimaging working group of the AACPDM and NIH with the Library of Congress (since 2015)

RECOGNITION Awards 1. Scientific annual award of the Society of Neuropediatrics Title of the presentation: “Diffusion tensor imaging in Joubert syndrome”

33rd Annual Meeting of the Society of Neuropediatrics 22- 25.03.2007, Passau, Germany

2. Scientific annual award of the Society of Neuropediatrics Title of the presentation: “Life with only one half of the cerebellum: outcome in

children with severe unilateral cerebellar hypoplasia” 35th Annual Meeting of the Society of Neuropediatrics

23- 26.04.2009, Graz, Austria

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3. Talent Prize 2011 Title of the article: “Joubert syndrome and related disorders: spectrum of neuroimaging findings in 75 patients”

Swiss Society of Paediatrics September 2011

4. Déjérine Dubois Prize for the best scientific oral presentation Title of the presentation: “Vestibular impairment in patients with Charcot-Marie-

Tooth disease” 2nd Congress of the Swiss Federation of Clinical Neuro-Societies

05- 07.06.2013, Montreux, Switzerland 5. Junior investigator award 2nd Joubert Syndrome Biennial Conference: Advancing Translational Ciliopathy

Research, Enhancing Clinical Care 21-22.10.2013, Boston, MA, USA

6. Certificate of merit for two posters 99th RSNA meeting 1-6.12.2013, Chicago, IL USA 7. 2014 Cornelius G. Dyke Memorial Award of the American Society of Neuroradiology for the article “Anatomical Connectome Reveals Abnormal

Connectivity in Agenesis of the Corpus Callosum in Children" by Meoded A, Katipally R, Bosemani T, Huisman TA, and Poretti A.

May 20, 2014, Montreal, QC, Canada 8. Recognition award for AJNR Reviewers 2014 9. Award for the discovery of Poretti-Boltshauser syndrome Community of Bioggio, Switzerland April 20, 2015, Bioggio, Switzerland 10. 2015 Resident and fellow award of the Department of Radiology and

Radiological Science, The Johns Hopkins Hospital for the article “Cerebral reorganization after hemispherectomy: A diffusion tensor imaging study” by Meoded A, Faria AV, Hartman AL, Jallo GI, Mori S, Johnston MV, Huisman TA, and Poretti A. June 19, 2015, Baltimore, MD, USA

11. 2016 ASPNR Annual Award in Pediatric Neuroradiology Research

12. 2015 Gatewood Award Honors 26.11.2002 Graduation from Medical School

University of Berne, Switzerland

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30.07.2004 Doctorate/Dissertation, Medical Faculty, University Zurich Title of the thesis: Craniopharyngioma in children: long-term complications and quality of life Mentors: Prof. Dr. E. Boltshauser, Head Pediatric Neurology, and Prof. Dr. M. A. Grotzer, Head Pediatric Neuro-Oncology, University Children’s Hospital, University of Zurich

May 2011 Developmental Medicine and Child Neurology Podcast with Dr. Peter

Baxter (Editor in Chief) and Prof. C. Limperopoulos (Division of Diagnostic Imaging and Radiology, Children's National Medical Center, George Washington University, Washington DC, USA) Title of the Podcast: Spectrum of neurodevelopmental disabilities in children with cerebellar malformations

September 2011 American Journal of Neuroradiology Podcast for the Special

Collection on Brain malformations with Prof. C. Douglas Phillips (Podcast Editor of AJNR) and Prof. Thierry A.G.M. Huisman (Medical Director, Division of Pediatric Radiology, Johns Hopkins School of Medicine, Baltimore, USA)

Title of the Podcast: Brain malformations January 2013 Developmental Medicine and Child Neurology Podcast with Dr. Peter

Baxter (Editor in Chief), Dr. John H. Livingston (Department of Paediatric Neurology, Leeds General Infirmary), and Prof. Thierry. A.G.M. Huisman (Division of Pediatric Radiology, Johns Hopkins Hospital, Baltimore) Title of the Podcast: Recognizable phenotypes associated with intracranial calcification

August 2014 The new cerebellar malformation characterized by ataxia, intellectual

disability, ocular motor apraxia, and cerebellar dysplasia with cerebellar cysts has been named Poretti-Boltshauser syndrome (OMIM #615960, http://omim.org/entry/615960) in recognition of the first and senior author of the first article reporting this disease

Invited Guest Editor 1. American Journal of Neuroradiology, AJNR,

Special Collection on Brain malformations October 2011

2. American Journal of Neuroradiology (AJNR) Digest

July 2015

OTHER PROFESSIONAL ACCOMPLISHMENTS Scientific papers at national and international conferences

http://itunes.apple.com/gb/podcast/developmental-medicine-child/id414005670

http://itunes.apple.com/gb/podcast/developmental-medicine-child/id414005670

http://omim.org/entry/615960

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1. Poretti A, Grotzer MA, Ribi K, Schönle E, Boltshauser E Outcome of craniopharyngioma in children: long-term complications and quality of life. 30th Annual Meeting of the Society for Neuropediatrics, Bern, March 25-28, 2004. Neuropediatrics 2004, 35(1): 65

2. Grotzer MA, Poretti A, Boltshauser E. Outcome of craniopharyngioma in children:

long- term complications and quality of life. 11th International Symposium on Pediatric Neuro-Oncology, Boston, June 13-16, 2004. Neuro-Oncology 2004, 6(4): 438

3. Poretti A, Friedt M, Meili D, Thöny B, Brägger CP, Zingg W. Diagnosis of

Shwachman Diamond Syndrome in a Child with Failure to Thrive. Annual Meeting of the Swiss Society for Paediatrics, Bern, June 22-23, 2006. Swiss Med Wkly 2006, 136: 32S

4. Greisser J, Poretti A, Baumgartner M, Steinmann B, Klein A, Zingg W, Soler R,

Goetschel Ph. Bulging fontanel, arterial hypertension and hypercalcemia - a diagnostic challenge. Annual Meeting of the Swiss Society for Paediatrics, Bern, June 22-23, 2006. Swiss Med Wkly 2006, 136: 42S

5. Gerber NU, Zehnder D, Zuzak T, Poretti A, Boltshauser E, Grotzer MA. Outcome of

brain tumor in children less than 1 year of age: long-term complications and quality of life. 32nd Annual Meeting of the Society for Neuropediatrics, Mannheim, September 20-24, 2006. Neuropediatrics 2006, 37(3): 192

6. Poretti A, Zehnder D, Boltshauser E, Grotzer MA. Outcome of intraspinal tumors in

children: long-term complications and quality of life. 32nd Annual Meeting of the Society for Neuropediatrics, Mannheim, September 20-24, 2006. Neuropediatrics 2006, 37(3): 191-192

7. Poretti A, Boltshauser E, Loenneker T, Valente EM, Brancati F, Il’Yasov K,

Huisman TA. Diffusion tensor imaging in Joubert syndrome. 33rd Annual Meeting of the Society for Neuropediatrics, Passau, March 22-25, 2007. Neuropediatrics 2006, 37(6): 410

8. Poretti A, Huisman TA, Tolnay M, Brehmer U, Schmitt B, Boltshauser E. Pontine

involvement as an imaging feature of severe hypoxic-ischemic encephalopathy in the term neonate. 33rd Annual Meeting of the Society for Neuropediatrics, Passau, March 22-25, 2007. Neuropediatrics 2006, 37(6): 392-393

9. Gerber NU, Zehnder D, Zuzak T, Poretti A, Boltshauser E, Grotzer MA. Outcome of

brain tumor in children less than 1 year of age: long-term complications and quality of life. Annual Meeting of the Swiss Society for Paediatrics, Zurich, June 14-15, 2007. Swiss Med Wkly 2007, 137: 5S


children: long-term complications and quality of life. Annual Meeting of the Swiss Society for Paediatrics, Zurich, June 14-15, 2007. Swiss Med Wkly 2007, 137: 13S

11. Poretti A, Kraus J, Krepelova A, Martin F, Boltshauser E. Dopa-responsive dystonia

(segawa disease) – an easily missed treatable movement disorder. Annual Meeting

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of the Swiss Society for Paediatrics, Zurich, June 14-15, 2007. Swiss Med Wkly 2007, 137: 22S

12. Huisman TA, Poretti A, Loenneker T, Valente E, Brancati F, Il’Yasov K, Boltshauser

E. Failure of decussation of important pathways demonstrated by MR tractography in Joubert syndrome. 32nd ESNR Annual Meeting, Genoa, September 20-23, 2007. Neuroradiology 2007, 49: S184

13. Poretti A, Bartholdi D, Gobara S, Dietrich Alber F, Boltshauser E. Gomez-Lopez-

Hernandez syndrome: an easily missed diagnosis. 34th Annual Meeting of the Society for Neuropediatrics, Jena, April 3-6, 2008. Neuropediatrics 2008, 39(1): 80


Huisman TA, Boltshauser E. Cerebellar cleft: a form of prenatal cerebellar disruption. 34th Annual Meeting of the Society for Neuropediatrics, Jena, April 3-6, 2008. Neuropediatrics 2008, 39(1): 80

15. Poretti A, Anheier T, Zimmermann R, Boltshauser E. Neural tube defects in

Switzerland from 2001 to 2007: Are periconceptional folic acid recommendations followed? Annual Meeting of the Swiss Society for Paediatrics, Lugano, June 19-21, 2008. Swiss Med Wkly 2008, 138: 12S

16. Poretti A, Balmer C, Bauersfeld U, Gallati S, Boltshauser E, Schmitt B. Wolff-

Parkinson-White syndrome in a child with MELAS syndrome. Annual Meeting of the Swiss Society for Paediatrics, Lugano, June 19-21, 2008. Swiss Med Wkly 2008 138: 24S

17. Cavigelli A, Poretti A, Boltshauser E, Knirsch W, Balmer C. Macrocephaly after

cavopulmonary anastomosis. Annual Meeting of the Swiss Society for Paediatrics, Lugano, June 19-21, 2008. Swiss Med Wkly 2008, 138: 29S

18. Ziegler A, Poretti A, Keller S, Schmitt B, Boltshasuer E. Severe encephalopathy in

an infant due to subclinical maternal pernicious anemia. Annual Meeting of the Swiss Society for Paediatrics, Lugano, June 19-21, 2008. Swiss Med Wkly 2008, 138: 30S

19. Hoop R, Poretti A, Kellenberger C, Fasnacht M, Boltshauser E, Valsangiacomo-

Buechel E. Prenatal mass in the heart and neonatal nodules in the brain as typical findings in tuberous sclerosis. Annual Meeting of the Swiss Society for Paediatrics, Lugano, June 19-21, 2008. Swiss Med Wkly 2008, 138: 30S

20. Bauder F, Poretti A, Scheer I, Meyer-Heim A, Klein A, Boltshauser E. Spinal cord

emergencies: clinical presentation and work-up of acute myelopathies in childhood. Annual Meeting of the Swiss Society for Paediatrics, Lugano, June 19-21, 2008. Swiss Med Wkly 2008, 138: 37S


Huisman TA, Boltshauser E. Cerebellar cleft: a form of prenatal cerebellar disruption. 45th Annual Meeting of the Gesellschaft für Pädiatrische Radiologie (GPR), Basel, September 18-20, 2008

http://www.springerlink.com/content/r042525g58251x67/?p=a76d1b3a8fe74908ad7e02b254f1c3c7&pi=1

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22. Bauder F, Poretti A, Scheer I, Meyer-Heim A, Klein A, Boltshauser E. Spinal cord emergencies: clinical presentation and work-up of acute myelopathies in childhood. 45th Annual Meeting of the Gesellschaft für Pädiatrische Radiologie (GPR), Basel, September 18-20, 2008


children: long-term complications and quality of life. 13rd International Symposium on Pediatric Neuro-Oncology, Chicago, June 29-July 2, 2008. Neuro-Oncology 2008, 10(3): 494

24. Poretti A, Rauscher C, Neuhann T, Forstner R, Hahn G, Koch J, Tinschert S,

Boltshauser E. Pontine tegmental cap dysplasia: two additional cases. 35th Annual Meeting of the Society for Neuropediatrics, Graz, April 23-26, 2009. Neuropediatrics 2008, 39(5): 308-309

25. Poretti A, Limperopoulos C, Wolf NI, Roulet-Perez E, Rauscher C, Prayer D, Müller

A, Weissert M, Kotzaeridou U, du Plessis AJ, Huisman TA, Boltshauser E. Life with only half of the cerebellum: outcome in children with severe unilateral cerebellar hypoplasia. 35th Annual Meeting of the Society for Neuropediatrics, Graz, April 23-26, 2009. Neuropediatrics 2008, 39(5): 309

26. Poretti A, Limperopoulos C, Wolf NI, Roulet-Perez E, Rauscher C, Prayer D, Müller

A, Weissert M, Kotzaeridou U, du Plessis AJ, Huisman TA, Boltshauser E. Life with only half of the cerebellum: outcome in children with severe unilateral cerebellar hypoplasia. 10th International Congress of the European Society for Magnetic Resonance in Neuropediatrics, Zurich, September 3-5, 2009


Rutherford MA, du Plessis AJ, Limperopoulos C, Boltshauser E. Cerebellar clefts: a second series. 8th Congress of the European Paediatric Neurology Society, Harrogate (UK), September 30- October 3, 2009. Eur J Paediatr Neurol 2009, 13(Suppl 1): 27


Rutherford MA, du Plessis AJ, Limperopoulos C, Boltshauser E. Cerebellar clefts: confirmation of the neuroimaging pattern. 1st Congress Swiss Federation of Clinical Neuro-Societies, Basel, June 2-4, 2010. Schweiz Arch Neurol Psychiat 2010: S20

29. Poretti A, Dietrich Alber F, Brancati F, Dallapiccola B, Valente EM, Boltshauser E.

Normal cognitive functions in Joubert syndrome. 1st Congress Swiss Federation of Clinical Neuro-Societies, Basel, June 2-4, 2010. Schweiz Arch Neurol Psychiat 2010: S22

30. Poretti A, Huisman TA, Scheer I, Boltshauser E. Joubert Syndrome and Related

Disorders: Spectrum of Neuroimaging Findings in 75 Patients. 11st International Congress of the European Society for Magnetic Resonance in Neuropediatrics, Amsterdam, March 24-26, 2011

31. Poretti A, Meoded A, Zu E, Boltshauser E, Huisman TA. Postnatal in-vivo MRI

findings in anencephaly. 11st International Congress of the European Society for Magnetic Resonance in Neuropediatrics, Amsterdam, March 24-26, 2011

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32. Chalian M, Tekes A, Meoded A, Poretti A, Huisman TA. Susceptibility Weighted

Imaging (SWI): a potential non-invasive imaging tool for characterizing ischemic brain injury? 11st International Congress of the European Society for Magnetic Resonance in Neuropediatrics, Amsterdam, March 24-26, 2011

33. Deib G, Poretti A, Meoded A, Cohen KJ, Raymond GV, Abromowitch M, Huisman

TA. Onset of adreno-leukodystrophy after medulloblastoma therapy: Causal connection or coincidence? 11st International Congress of the European Society for Magnetic Resonance in Neuropediatrics, Amsterdam, March 24-26, 2011

34. Harting I, Kotzaeridou U, Poretti A, Seitz A, Pietz J, Bendzus M, Boltshauser E.

Interpeduncular heterotopias in Joubert syndrome: A previously undescribed MR finding. 11st International Congress of the European Society for Magnetic Resonance in Neuropediatrics, Amsterdam, March 24-26, 2011

35. Poretti A, Meoded A, Boltshauser E, Huisman TA. Postnatal in-vivo MRI findings in

anencephaly. 37th Annual Meeting of the Society for Neuropediatrics, Garmisch-Partenkirchen, April 7-10, 2011. Neuropediatrics 2011, 42(S1):S30

36. Poretti A, Huisman TA, Scheer I, Boltshauser E. Joubert syndromes and related

disorders: spectrum of neuroimaging findings in 75 patients. 37th Annual Meeting of the Society for Neuropediatrics, Garmisch-Partenkirchen, April 7-10, 2011. Neuropediatrics 2011, 42(S1):S35

37. Bosemani T, Huisman TA, Poretti A, Meoded A, Tekes A. Focal spinal cord lesions

in children: Differential diagnosis with MRI. 6th Congress of the joint Societies of Paediatric Radiology, London May 27-31, 2011

38. Meoded A, Poretti A, Chalian M, Tekes A, Huisman TA. Susceptibility Weighted

Imaging (SWI): a potential non-invasive imaging tool for characterizing ischemic brain injury? 49th Annual Meeting of the American Society of Neuroradiology, Seattle, June 4-9, 2011

39. Meoded A, Singhi S, Poretti A, Eran A, Tekes A, Huisman TA. Tectorial membrane

injury: frequently overlooked in pediatric traumatic head injury. 49th Annual Meeting of the American Society of Neuroradiology, Seattle, June 4-9, 2011

40. Poretti A, Mall V, Smitka M, Grunt S, Toelle S, Jung N, Steinlin M, Meoded A,

Huisman T, Boltshauser E. Macrocerebellum: not a clinical and neuroimaging entity. 38th Annual Meeting of the Society for Neuropediatrics, Muenster, April 19-22, 2012. Neuropediatrics 2012, 43(2): 74

41. Poretti A, Hennekam R, Huisman T, Kluger G, Schwarz C, Tibussek D, Valente E,

Boltshauser E. Oral-Facial-Digital syndrome type VI: Delineation and diagnostic criteria. 38th Annual Meeting of the Society for Neuropediatrics, Muenster, April 19-22, 2012. Neuropediatrics 2012, 43(2): 77

42. Toelle SP, Poretti A, Scheer I, Huisman TA, Boltshauser E. Bannayan-Riley-

Ruvalcalba Syndrome with progressive spinal epidural lipomatosis. Neuropediatrics 2012, 43(2): 110.

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43. Poretti A, Vitiello G, Hennekam RC, Huisman TA, Valente EM, Boltshauser E.

Delineation and diagnostic criteria of Oral-Facial-Digital syndrome type VI. 50th Annual Meeting of the American Society of Neuroradiology, New York, April 23-26, 2012

44. Poretti A, Nickerson JP, Richner B, Santy K, Lequin MH, Filippi CG, Huisman TA.

Neuroimaging of Pediatric Intracranial Infections. 50th Annual Meeting of the American Society of Neuroradiology, New York, April 23-26, 2012

45. Poretti A, Verschuuren S, Meoded A, Buerki S, Lequin MH, Huisman TA.

Susceptibility Weighted Imaging of the pediatric brain. 50th Annual Meeting of the American Society of Neuroradiology, New York, April 23-26, 2012

46. Poretti A, Meoded A, Huisman TA. Pediatric cerebellar tumors: correlation between

ADC values and histology. 50th Annual Meeting of the American Society of Neuroradiology, New York, April 23-26, 2012

47. Meoded A, Poretti A, Dzirasa L, Izbudak I, Huisman TA. Aberrant course of the

cortico-spinal tracts in the brainstem as revealed by DTI/tractography. 50th Annual Meeting of the American Society of Neuroradiology, New York, April 23-26, 2012

48. Meoded A, Poretti A, Tekes A, Huisman TA. Evaluation of the ischemic penumbra

with susceptibility weighted imaging in children affected with arterial ischemic stroke. 50th Annual Meeting of the American Society of Neuroradiology, New York, April 23-26, 2012

49. Gregory ML, Gipson TT, Jennett H, Wachtel L, Poretti A, Johnston MV. Everolimus

and intensive behavioral therapy decreased frequency of self-injurious behavior and seizure severity in an adolescent with Tuberous Sclerosis. 41st Annual Meeting of the Child Neurology Society, Huntington Beach, October 31-November 3, 2012

50. Poretti A, Häusler M, von Moers A, Baumgartner B, Zerres K, Klein A, Aiello C,

Zanni G, Santorelli FM, Huisman TA, Valente EM, Weis J, Bertini E, Boltshauser E. Ataxia, cognitive impairment and ocular motor apraxia with cerebellar cysts and dysplasia: a new form of dystroglycanopathy? 39th Annual Meeting of the Society for Neuropediatrics, Innsbruck, April 25-28, 2013. Neuropediatrics 2013;44(2):78

51. Bosemani T, Boltshasuer E, Staudt M, Flores-Sarnat L, Buerki S, Pieper T, Sarnat

HB, Wei XC, Hartman AL, Huisman TA, Poretti A. Hemimegalencephaly: involvement of cranial nerves and intracranial vessels. 39th Annual Meeting of the Society for Neuropediatrics, Innsbruck, April 25-28, 2013. Neuropediatrics, 2013;44(2):114

52. Poretti A, Meoded A, Huisman TA. Maturation of the brain stem and cerebellar

white matter tracts from the neonatal period to adolescence: a diffusion tensor imaging study. 39th Annual Meeting of the Society for Neuropediatrics, Innsbruck, April 25-28, 2013. Neuropediatrics, 2013;44(2):113

53. Poretti A, Rostasy K, Wei XC, Fauth C, Koch J, Hader WJ, Valente EM, Huisman

TA, Boltshauser E. Tecto-cerebellar dysraphism with occipital encephalocele is part

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of the Joubert syndrome spectrum. 39th Annual Meeting of the Society for Neuropediatrics, Innsbruck, April 25-28, 2013. Neuropediatrics, 2013;44(2):113-114

54. Bosemani T, Verschuuren SI, Poretti A, Huisman TA. Pitfalls in susceptibility

weighted imaging (SWI) of the pediatric brain. 56th Annual Meeting of the Society for Pediatric Radiology, San Antonio, May 15-18, 2013. Pediatr Radiol, 2013;43(Suppl 2): 278-279

55. Poretti A, Huisman TA, Bertini E, Boltshauser E. Ataxia, cognitive impairment and

ocular motor apraxia with cerebellar cysts and dysplasia: a new form of dystroglycanopathy? 51st Annual Meeting of the American Society of Neuroradiology, San Diego, May 18-23, 2013

56. Bosemani T, Boltshasuer E, Staudt M, Flores-Sarnat L, Buerki S, Pieper T, Sarnat

HB, Wei XC, Hartman AL, Huisman TA, Poretti A. Hemimegalencephaly: involvement of cranial nerves and intracranial vessels. 51st Annual Meeting of the American Society of Neuroradiology, San Diego, May 18-23, 2013

57. Poretti A, Meoded A, Yoshida S, Huisman TA. Maturation of the brain stem and

cerebellar white matter tracts from the neonatal period to adolescence: a diffusion tensor imaging study. 51st Annual Meeting of the American Society of Neuroradiology, San Diego, May 18-23, 2013

58. Eshetu T, Meoded A, Jallo GI, Carson BS, Huisman TA, Poretti A. Diffusion tensor

imaging in Chiari type I malformation. 51st Annual Meeting of the American Society of Neuroradiology, San Diego, May 18-23, 2013

59. Izbudak I, Poretti A, Lequin M, Huisman TA. What is the Role of Pediatric

Neuroimaging in Cerebral Palsy? 51st Annual Meeting of the American Society of Neuroradiology, San Diego, May 18-23, 2013

60. Eckart D, Poretti A, Boltshauser E, Huisman TA, Izbudak I. Longitudinally Extensive

Myelopathy in Children and Adults: The Spectrum of MRI Findings. 51st Annual Meeting of the American Society of Neuroradiology, San Diego, May 18-23, 2013

61. Meoded A, Faria AV, Bastian AJ, Jallo GI, Hartman AL, Mori S, Huisman TA,

Poretti A. Reorganization of the infratentorial white matter tracts after hemispherectomy: a diffusion tensor imaging study. 51st Annual Meeting of the American Society of Neuroradiology, San Diego, May 18-23, 2013

62. Meoded A, Faria AV, Bastian AJ, Jallo GI, Hartman AL, Mori S, Huisman TA,

Poretti A. Reorganization of the remaining brain after hemispherectomy: a diffusion tensor imaging study. 51st Annual Meeting of the American Society of Neuroradiology, San Diego, May 18-23, 2013

63. Meoded A, Poretti A, Jallo GI, Burger PC, Huisman TA, Izbudak I. Diffusion Tensor

Imaging in Pediatric Hypertrophic Olivary Degeneration. 51st Annual Meeting of the American Society of Neuroradiology, San Diego, May 18-23, 2013

64. Alqathani E, Huisman TA, Boltshauser E, Scheer I, Güngör T, Tekes A, Maegawa

GH, Poretti A. New cerebellar neuroimaging findings in mucopolysaccharidoses

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type I and II. 51st Annual Meeting of the American Society of Neuroradiology, San Diego, May 18-23, 2013

65. Poretti A, Palla A, Tarnutzer AA, Petersen JA, Weber KP, Straumann D, Jung HH.

Vestibular impairment in patients with Charcot-Marie-Tooth disease. 2nd Congress of the Swiss Federation of Clinical Neuro-Societies, Montreux, June 5-7, 2013

66. Poretti A, Elton LE, Christen HJ, Baumgartner M, Steinlin M, Boltshauser E. Head

titubation in infants with Joubert syndrome: a new finding. 2nd Joubert Syndrome Biennial Conference: Advancing Translational Ciliopathy Research, Enhancing Clinical Care, Boston, October 21-22, 2013

67. Bosemani T, Baum J, Meoded A, Huisman TA, Poretti A. Impairment of remote

cerebral cortical growth in Joubert syndrome: preliminary results. 2nd Joubert Syndrome Biennial Conference: Advancing Translational Ciliopathy Research, Enhancing Clinical Care, Boston, October 21-22, 2013

68. Orman G, Alqathani E, Bosemani T, Tekes A, Huisman TA, Poretti A. Signal

abnormalities of the splenium in children: a neuroimaging pattern-recognition approach. 99th RSNA meeting, Chicago, December 1-6, 2013

69. Orman G, Bosemani T, Tekes A, Huisman TA, Poretti A. Congenital abnormalities

of the posterior fossa: anomalies beyond the Dandy-Walker spectrum. 99th RSNA meeting, Chicago, December 1-6, 2013

70. Gerner GJ, Burton VJ, Poretti A, Bosemani M, Leppert M, Cristofalo EA, Allen M,

Huisman TA, Northington FJ, Johnston MV. Associations between Transcranial Doppler Head Ultrasound Resistive Indices in Asphyxiated Neonates Treated with Hypothermia and Early Childhood Neurodevelopmental Outcomes. International Neuropsychological Society in Seattle, Washington, February 12-15, 2014.

71. Bosemani T, Orman G, Carson KA, Meoded A, Huisman TA, Poretti A. Diffusion

tensor imaging of the brainstem in children with achondroplasia. 57th Annual Meeting of the Society for Pediatric Radiology, Washington DC, May 27-30, 2014. Pediatr Radiol, 2014

72. Bosemani T, Huisman TA, Poretti A. Susceptibility-weighted imaging: a powerful

diagnostic tool in pediatric neuroimaging. 57th Annual Meeting of the Society for Pediatric Radiology, Washington DC, May 27-30, 2014. Pediatr Radiol, 2014

73. Tekes A, Poretti A, Lee JK, Chung SE, Northington FJ, Huisman TA. Does near

infrared spectroscopy as marker of brain autoregulation correlate with apparent diffusion coefficient scalars in neonates who were treated with brain cooling for perinatal hypoxic ischemic injury? 57th Annual Meeting of the Society for Pediatric Radiology, Washington DC, May 27-30, 2014. Pediatr Radiol, 2014

74. Bosemani T, Poretti A, Orman G, Tekes A, Pearl M, Huisman TA. Moyamoya

disease and syndrome in children: Spectrum of neuroimaging findings including differential diagnosis. 51st Annual Meeting of the European Society for Pediatric Radiology, Amsterdam, June 2-6, 2014

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75. Bosemani T, Anghelescu C, Boltshauser E, Hoon AH, Pearl PL, Craiu D, Johnston MV, Huisman TA, Poretti A. Subthalamic nucleus involvement in children: a neuroimaging pattern-recognition approach. 51st Annual Meeting of the European Society for Pediatric Radiology, Amsterdam, June 2-6, 2014

76. Tekes A, Poretti A, Lee JK, Chung SE, Northington FJ, Huisman TA. Does near

infrared spectroscopy as marker of brain autoregulation correlate with apparent diffusion coefficient scalars in neonates who were treated with brain cooling for perinatal hypoxic ischemic injury? 52nd Annual Meeting of the American Society of Neuroradiology, Montreal, May 19-22, 2014

77. Bosemani T, Orman G, Hergan B, Carson KA, Huisman TA, Poretti A.

Achondroplasia in children: Is there a correlation between size of the foramen magnum, jugular veins, emissary veins and degree of ventriculomegaly? 52nd Annual Meeting of the American Society of Neuroradiology, Montreal, May 19-22, 2014

78. Bosemani T, Orman G, Carson KA, Meoded A, Huisman TA, Poretti A. Diffusion

tensor imaging of the brainstem in children with achondroplasia. 52nd Annual Meeting of the American Society of Neuroradiology, Montreal, May 19-22, 2014

79. Orman G, Bosemani T, Higgins L, Carson KA, Huisman TA, Poretti A. Pediatric

cerebellar tumors: Apparent diffusion coefficient of the solid contrast enhancing component appears to predict tumor grade best. 52nd Annual Meeting of the American Society of Neuroradiology, Montreal, May 19-22, 2014

80. Meoded A, Bosemani T, Huisman TA, Poretti A. Anatomical Connectome Reveals

Abnormal Connectivity in Complete Corpus Callosum Agenesis. 52nd Annual Meeting of the American Society of Neuroradiology, Montreal, May 19-22, 2014

81. Poretti A, Ferreira C, Cohen J, Hamosh A, Naidu S. Hypomyelination with atrophy

of basal ganglia and cerebellum (HABC) due to TUBB4A mutations: expansion of the neuroimaging phenotype. 52nd Annual Meeting of the American Society of Neuroradiology, Montreal, May 19-22, 2014

82. Orman G, Bosemani T, Seeburg D, Zamora C, Oshmyansky A, Hines L, Tekes A,

Poretti A, Huisman TA. Value of Multiplanar 3-Dimensional Reconstruction of Head Computed Tomography in the Diagnosis of Pediatric Skull Fractures. 52nd Annual Meeting of the American Society of Neuroradiology, Montreal, May 19-22, 2014

83. Bosemani T, Gerner GJ, Burton VJ, Leppert M, Cristofalo EA, Allen M, Northington

FJ, Johnston MV, Huisman TA, Poretti A. Susceptibility-weighted imaging in predicting neurodevelopmental outcome of early childhood in neonatal hypoxic ischemic injury after hypothermia therapy. 52nd Annual Meeting of the American Society of Neuroradiology, Montreal, May 19-22, 2014

84. Poretti A, Mancini F, Romani M, Micalizzi A, Fluss J, Koch J, del Giudice E,

Simonati A, Cirillo Silengo M, Mirabelli M, Bianceri R, Dakovic I, Mejaski Bosnjak V, Huisman TA, Valente EM, Boltshauser E. Corpus callosum anomalies in Joubert syndrome: low prevalence and weak phenotype-genotype correlation. 52nd Annual Meeting of the American Society of Neuroradiology, Montreal, May 19-22, 2014

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85. Bosemani T, Poretti A, Orman G, Tekes A, Pearl MS, Huisman TA. Moyamoya

disease and syndrome in children: spectrum of neuroimaging findings. 52nd Annual Meeting of the American Society of Neuroradiology, Montreal, May 19-22, 2014

86. Huisman TA, Bosemani T, Tekes A, Phelps T, Poretti A. Parturitional injury of the

head and neck. 52nd Annual Meeting of the American Society of Neuroradiology, Montreal, May 19-22, 2014

87. Poretti A, Boltshauser E, Tekes A, Valente EM, Aygun N, Gahl WA, Gunay-Aygun

M, Huisman TA. Neuroimaging spectrum in Joubert syndrome. 52nd Annual Meeting of the American Society of Neuroradiology, Montreal, May 19-22, 2014

88. Bosemani T, Anghelescu C, Boltshauser E, Hoon AH, Pearl PL, Craiu D, Johnston

MV, Huisman TA, Poretti A. Neuroimaging pattern-recognition approach of subthalamic nucleus involvement in children. 52nd Annual Meeting of the American Society of Neuroradiology, Montreal, May 19-22, 2014

89. Poretti A, Rostasy K, Wei XC, Lance EI, Fauth C, Koch J, Hader WJ, Lamal J,

Valente EM, Huisman TA, Boltshauser E. Tecto-cerebellar dysraphism with occipital encephalocele is part of the Joubert syndrome spectrum. 52nd Annual Meeting of the American Society of Neuroradiology, Montreal, May 19-22, 2014

90. Poretti A, Elton LE, Christen HJ, Baumgartner M, Steinlin M, Boltshauser E. Head

titubation in infants with Joubert syndrome: a new finding. 43rd Annual Meeting of the Child Neurology Society, Columbus, October 22-25, 2014.

91. Polan RM, Poretti A, Huisman TA, Bosemani T. Susceptibility-weighted imaging in

pediatric arterial ischemic stroke: evaluation focusing on the venous drainage. 100th Annual Meeting of The American Medical Women's Association (AMWA), Chicago IL, April 27-30, 2015.

92. Poretti A, Denecke J, Miller DC, Schiffmann H, Bukh JE, Grange DK, Doherty D,

Boltshauser E. Brainstem disconnection: two additional patients and expansion of the phenotype. 41st Annual Meeting of the Society for Neuropediatrics, Basel, April 23-26, 2015.

93. Poretti A, Toelle SP, Klein A, Scheer I, Huisman TA, Boltshauser E. Cerebellar

cysts in children: a pattern-recognition approach. 41st Annual Meeting of the Society for Neuropediatrics, Basel, April 23-26, 2015.

94. Poretti A, Mancini F, Romani M, Micalizzi A, Fluss J, Koch J, Huisman TA, Valente EM, Boltshauser E. Corpus callosum anomalies in Joubert syndrome: low prevalence and weak phenotype-genotype correlation. 41st Annual Meeting of the Society for Neuropediatrics, Basel, April 23-26, 2015.

95. Poretti A, Romani M, Mancini F, Micalizzi A, Miccinilli E, Steinlin M, Wolf NI, Boltshauser E, Valente EM. Oral-facial-digital syndrome type VI: is C5orf42 really the major gene? 41st Annual Meeting of the Society for Neuropediatrics, Basel, April 23-26, 2015.

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96. Toelle SP, Poretti A, Weber P, Seute T, Bromberg JE, Scheer I, Boltshauser E. Cerebellar hypoplasia and dysmorphia in neurofibromatosis type 1. 41st Annual Meeting of the Society for Neuropediatrics, Basel, April 23-26, 2015.

97. Wagner MW, Narayan AK, Bosemani T, Huisman TA, Poretti A. Histogram analysis of diffusion tensor imaging parameters in pediatric posterior fossa tumors. 53rd Annual Meeting of the American Society of Neuroradiology, Chicago, April 25-30, 2015.

98. Wagner MW, Kontzialis M, Seeburg D, Poretti A, Huisman TA. Axial T2-weighted images only yield excellent accuracy in the determination of normal and abnormal pediatric brain MRI studies. 53rd Annual Meeting of the American Society of Neuroradiology, Chicago, April 25-30, 2015.

99. Wagner MW, Bosemani T, Oshmyansky A, Poretti A, Huisman TA. Neuroimaging findings in pediatric cerebral sinovenous thrombosis. 53rd Annual Meeting of the American Society of Neuroradiology, Chicago, April 25-30, 2015.

100. Wagner MW, Mhlanga J, Bosemani T, Carson KA, Cohen KJ, Poretti A, Huisman TA. Diffusion tensor imaging reveals early dissemination of pediatric diffuse intrinsic pontine gliomas. 53rd Annual Meeting of the American Society of Neuroradiology, Chicago, April 25-30, 2015.

101. Wagner MW, Poretti A, Huisman TA. DWI/DTI MR thermometry of the brain in children. 53rd Annual Meeting of the American Society of Neuroradiology, Chicago, April 25-30, 2015.

102. Pringle LC, Bosemani T, Carson KA, Huisman TA, Poretti A. DTI atlas-based analysis in children with benign childhood epilepsy with centrotemporal spikes. 53rd Annual Meeting of the American Society of Neuroradiology, Chicago, April 25-30, 2015.

103. Poretti A, Boltshauser E. Brainstem disconnection: two additional patients and expansion of the phenotype. 53rd Annual Meeting of the American Society of Neuroradiology, Chicago, April 25-30, 2015.

104. Poretti A, Huisman TA, Boltshauser E. Cerebellar cysts in children: a pattern-recognition approach. 53rd Annual Meeting of the American Society of Neuroradiology, Chicago, April 25-30, 2015.

105. Poretti A,Toelle SP, Boltshauser E. Cerebellar hypoplasia and dysmorphia in neurofibromatosis type 1. 53rd Annual Meeting of the American Society of Neuroradiology, Chicago, April 25-30, 2015.

106. Meoded A, Huisman TA, Poretti A. Diffusion Tensor Imaging and Fiber Tractography: Analysis Options in Pediatric Neuroimaging Research 53rd Annual Meeting of the American Society of Neuroradiology, Chicago, April 25-30, 2015.

107. Meoded A, Bosemani T, Huisman TA, Poretti A. Diffusion Tensor Imaging and Fiber Tractography of Pediatric Posterior Fossa Malformations. 53rd Annual Meeting of the American Society of Neuroradiology, Chicago, April 25-30, 2015.

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108. Gerner GJ, Newman E, Burton VJ, Cristofalo EA, Northington FJ, Johnston MV, Huisman TA, Poretti A. DTI changes within the posterior centrum semiovale in acute neonatal hypoxic-ischemic injury after hypothermia therapy. 53rd Annual Meeting of the American Society of Neuroradiology, Chicago, April 25-30, 2015.

109. Bosemani T. Lemmon ME, Northington FJ, Johnston MV, Huisman TA, Poretti A. Masqueraders of neonatal hypoxic-ischemic encephalopathy. 53rd Annual Meeting of the American Society of Neuroradiology, Chicago, April 25-30, 2015.

110. Bosemani T, Poretti A, Gerner GJ, Burton VJ, Cristofalo EA, Northington FJ, Johnston MV, Huisman TA. The Utility of Transcranial Doppler Head Ultrasound Resistive Indices in Asphyxiated Neonates Treated with Hypothermia for Understanding Early Childhood Outcomes. 53rd Annual Meeting of the American Society of Neuroradiology, Chicago, April 25-30, 2015.

111. Kontzialis M, Michell H, Poretti A, Huisman TA. Pediatric spinal nerve root enhancement: Clinical and differential considerations. 53rd Annual Meeting of the American Society of Neuroradiology, Chicago, April 25-30, 2015.

112. Meoded A, Palla A, Rohrbach M, Carson KA, Huisman TA, Poretti A. White and gray matter changes in adults with Niemann-Pick disease type C and correlation with clinical features. 53rd Annual Meeting of the American Society of Neuroradiology, Chicago, April 25-30, 2015.

113. Poretti A, Baum J, Gipson TT, Kelley SA, Gerner GJ, Carson KA, Johnston MV, Huisman TA. DTI as a biomarker of self-injurious behavior in children with tuberous sclerosis complex. 53rd Annual Meeting of the American Society of Neuroradiology, Chicago, April 25-30, 2015.

114. Adami RR, Grundy ME, Poretti A, Felling RJ, Lemmon ME, Graham EM. Perinatal risk factors for distinguishing neonatal stroke from hypoxic-ischemic encephalopathy at the time of birth. Society for Maternal Fetal Medicine’s 36th Annual Pregnancy Meeting, Atlanta, February 1-6, 2016.

115. Varvagiannis K, Fluss J, Poretti A, Billieux MH, De Luca R, Rimensberger P, Hanquinet S, Guipponi M, Makrythanasis P, Lidgren M, Blouin JL, Steinfeld R, Kern I, Antonarakis SE, Fokstuen S. Further case of the rare congenital neuronal ceroid lipofuscinosis form confirmed by targeted exome sequencing showing a novel cathepsin D deficiency mutation. The European Human Genetics Conference 2016. Barcelona, May 21-24, 2016.

116. Bontognali M, Poretti A, Ramelli GP. Blake’s pouch cyst: atypical clinical presentation in an otherwise normal developed 18-months-old child and review of the literature. 44th Annual Meeting of the Société Européenne de Neurologie Pédiatrique, Lugano, May 19-21, 2016.

117. Hurni Y, Guzman R, Schneider J, Poretti A, Ramelli GP. Arrested hydrocephalus in children: five consecutive reported cases and comprehensive review of the literature available to date. 44th Annual Meeting of the Société Européenne de Neurologie Pédiatrique, Lugano, May 19-21, 2016.

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118. Dremmen MH, Wagner MW, Poretti A, Bosemani T, Tekes A, Agostino D, Day E, Huisman TA. Black Bone MRI of the skull in pediatric traumatic brain injury: Can MRI replace CT? 54th Annual Meeting of the American Society of Neuroradiology, Washington D.C., May 23-26, 2016.

119. Wagner MW, Poretti A, Bosemani T, Benson JE, Huisman TA. Neuroimaging findings in pediatric genetic skeletal disorders: a pattern-recognition approach. 54th Annual Meeting of the American Society of Neuroradiology, Washington D.C., May 23-26, 2016.

120. Poretti A, Wolf NI, Huisman TA, Boltshauser E. Differential Diagnosis of Cerebellar Atrophy in Childhood. 54th Annual Meeting of the American Society of Neuroradiology, Washington D.C., May 23-26, 2016.

121. Meoded A, Huisman TA, Poretti A. The structural connectome in children, made easy. 54th Annual Meeting of the American Society of Neuroradiology, Washington D.C., May 23-26, 2016.

122. Lemmon ME, Wagner ME, Bosemani T, Carson KA, Northington FJ, Huisman TA, Poretti A. Cerebellar involvement in neonatal hypoxic ischemic injury: A diffusion tensor imaging study. 54th Annual Meeting of the American Society of Neuroradiology, Washington D.C., May 23-26, 2016.

123. Wagner MW, Wurnig M, Narayan AK, Huisman TA, Northington FJ, Poretti A. Texture analysis features reveal selective vulnerability of thalamic nuclei in mice after hypoxic-ischemic injury. 54th Annual Meeting of the American Society of Neuroradiology, Washington D.C., May 23-26, 2016.

124. Meoded A, Dastgir J, Vanderver A, Poretti A, Bonnemann C. DTI reveals suporatentorial and infratentorial white and gray matter abnormalities in children with LAMA2-related congenital muscular dystrophy. 54th Annual Meeting of the American Society of Neuroradiology, Washington D.C., May 23-26, 2016.

125. Poretti A, Micalizzi A, Romani M, Boltshauser E, Valente EM. LAMA1 mutation analysis in cerebellar dysplasia with cysts. 54th Annual Meeting of the American Society of Neuroradiology, Washington D.C., May 23-26, 2016.

126. Young A, Goel R, Poretti A, Huisman TA, Bosemani T. Susceptibility-weighted imaging as a non-contrast technique in the diagnosis of developmental venous anomalies in children. 54th Annual Meeting of the American Society of Neuroradiology, Washington D.C., May 23-26, 2016.

Baltimore, 12 maggio 2016

august 2003 - servizi.apss.tn.it · and quality of life department of pediatric neurology,...

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