18th wms congress – 2013 – program

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Neuromuscular Disorders 23 (2013) 706–737

18th WMS Congress – 2013 – Program

Tuesday 1 October 2013

12:30–16:00

http://dx.doi.org/1
0.1016/j.nmd.
WMS Executive Board Meeting – Surf and Sand (lunch served)

16:00–19:00
Registration – Fred Farr Forum
Setting up of posters – Fireside Underground

19:30–22:30
Welcome and Opening Lecture – Merrill Hall
The strongest muscle of them all – S. Lydon

Reception and Welcome Barbecue – Barbecue area

Wednesday 2 October 2013

08:30–09:00
Opening of Congress – Message from the President Victor Dubowitz – MerrillHall
09:00–10:30
Myomatrix in Health and Disease; Invited lectures (M.I.1–3) – Merrill Hall
Chairpersons: D. Shelton and V. Dubowitz

M.I.1
Mechanism of laminin assembly: Insight for structural repairs of MDC1A
P.D. Yurchenco; S. Crosson; K.K. McKee; M.A. Ruegg

M.I.2
The matrix as a modifier for muscular dystrophy
E.M. McNally

M.I.3
The role of laminins in myomatrix assembly and skeletal muscle stability
M.A. Ruegg; S. Meinen; G. Maier; S. Lin; P.G. Yurchenco

10:30–11:00
Morning Tea and Coffee
11:00–11:30
Myomatrix in Health and Disease; Invited lecture (M.I.4) – Merrill Hall
Chairpersons: D. Shelton and V. Dubowitz

M.I.4
Progress in gene therapy for muscular dystrophy using vascular delivery of GALGT2
P. Martin

2013.06.009

http://dx.doi.org/10.1016/j.nmd.2013.06.009

http://dx.doi.org/10.1016/j.nmd.2013.06.009

http://crossmark.dyndns.org/dialog/?doi=10.1016/j.nmd.2013.06.009&domain=pdf

Program / Neuromuscular Disorders 23 (2013) 706–737 707

11:30–13:00
New Developments in Myopathies; Oral Presentations (O.1–6) – Merrill Hall
Chairpersons: G. Bonne and N. Laing

O.1
Collagen XII as a new disease gene for Bethlem-like myopathy
D. Hicks; G. Torabi Farsani; S. Laval; J. Collins; E. Martoni; A. Shah; Y. Zou; M. Koch;C. Bonnemann; H. Lochmuller; K. Bushby; M. Roberts; V. Straub

O.2
Collagen type XII: A new congenital matrix and muscle disease
Y. Zou; D. Zwolanek; Y. Hu; G. Schreiber; K. Brockmann; Y. Izu; Z. Tian; M. Devoto;S. Gandhy; M. Meier; J. Stetefeld; D. Hicks; V. Straub; N. Voermans; D.E. Birk; E.R. Barton;M. Koch; C.G. Bonnemann

O.3
Identification of novel dystroglycan-associated glycoprotein complexes in skeletal muscle
E.K. Johnson; B. Li; J.H. Yoon; K.M. Flanigan; P.T. Martin; J.M. Ervasti; F. Montanaro

O.4
Proteomic analysis confirms that HMERF associated with mutations in A-band titin is a new
subtype of myofibrillar myopathies

A. Maerkens; G. Pfeffer; A. Sarkozy; F. Chevessier; J. Uzkoreit; S. Feldkirchner; R. Barresi;K. Bushby; V. Straub; A. Oldfors; K. Marcus; M. Vorgerd; R. Schroder; H. Lochmuller;P. Chinnery; R.A. Kley

O.5
Mutations in MuRF1 and MuRF3 cause a novel protein aggregate myopathy and cardiomyopathy
M. Olive; S. Abdul-Hussein; A. Oldfors; D.O. Furst; P.F.M. van der Ven; L. Gonzalez-Mera;J. Gonzalez-Costello; B. Torrejon-Escribano; J. Alio; A. Pou; I. Ferrer; H. Tajsharghi

O.6
Restricting MTM1 transgene expression to skeletal muscle in AAV-mediated gene therapy for
myotubular myopathy

R. Joubert; C. Moal; A. Vignaud; S. Martin; I. Richard; P. Moullier; A.H. Beggs;M.K. Childers; F. Mavilio; A. Buj-Bello

13:00–14:30
Lunch - Crocker Hall and Seascape
14:30–16:00
Guided poster discussion session 1: parallel sessions (1–5) – Fireside Underground
Facilitators: C. Sewry, B. Udd, J. Verschuuren, N. Clarke and M Vainzof.

Congenital Muscular Dystrophies; Poster 1 (P.1.1–21)

P.1.1
Natural history of Ullrich congenital muscular dystrophy
T. Yonekawa; H. Komaki; M. Okada; Y.K. Hayashi; S. Noguchi; I. Nonaka; K. Sugai;M. Sasaki; I. Nishino

P.1.2
Natural history of pulmonary function in collagen VI-related myopathies: An international study
A.R. Foley; S. Quijano-Roy; J. Collins; V. Straub; M. McCallum; N. Deconinck; E. Mercuri;M. Pane; A. D’Amico; E. Bertini; K. North; M.M. Ryan; S. Auh; F. Muntoni; C.G. Bonnemann

P.1.3
Postural changes in forced vital capacity characterize congenital muscular dystrophy subtypes
K.G. Meilleur; M.M. Linton; A. Rutkowski; M.E. Leach; M. Jain; C. Jolley; M. Barton;P. McGraw; J. Collins; S. Donkervoort; J. Dastgir; J.R. Fontana; H. Sawnani; C.G. Bonnemann

708 Program / Neuromuscular Disorders 23 (2013) 706–737

P.1.4
Gene expression profile of collagen VI deficient human fibroblasts
T. Casserras; S.G. Kalko; S. Paco; C. Jou; A. Nascimento; C. Ortez; J. Colomer;C. Jimenez-Mallebrera

P.1.5
Gene expression profiling identifies molecular pathways associated with collagen VI deficiency
S. Paco; S.G. Kalko; C. Jou; M.A. Rodriguez; V. Cusi; J. Corbera; F. Torner; F. Muntoni;L. Feng; E. Rivas; A. Nascimento; J. Colomer; C. Jimenez-Mallebrera

P.1.6
Investigating collagen VI biosynthesis and assembly in the context of ALG2 impairment
in Ullrich/CMS-like family

G. Torabi Farsani; D. Hicks; S. Laval; M. Salih; M.Z. Seidhamed; J. Cossins; D. Beeson;V. Straub; H. Lochmuller; K. Bushby

P.1.7
Contiguous gene syndrome causing ColVI myopathy, dysmorphism, frontal atrophy
and diaphragmatic hernia

A.M. Seferian; L. Vandenbrande; V. Allamand; A. de Becdelievre; P. Richard; S. Lyonnet;V. Malan; L. Servais

P.1.8
Genetic ablation of p66Shc rescues functional and morphological abnormalities in collagen VI
dystrophic mice

S. Menazza; A. Carpi; V. Pignataro; B. Blaauw; P. Bonaldo; M. Giorgio; F. Di Lisa; M. Canton

P.1.9
Repeated cardiotoxin treatment progresses muscle phenotype in Collagen VI deficient mice
S. Noguchi; M. Ogawa; I. Nishino

P.1.10
siRNA-mediated allele-specific silencing of a dominant negative COL6A3 mutation causing Ullrichcongenital muscular dystrophy
V. Bolduc; Y. Zou; C.G. Bonnemann

P.1.11
Development of a registry and a database for a nation-wide Italian collaborative network
on congenital muscular dystrophy

F. Bianco; A. D’Amico; S. Messina; L. Politano; F.M. Santorelli; C. Bruno; P. Boffi;E. Pegoraro; A. Berardinelli; G.P. Comi; A. Pini; I. Moroni; E. Bertini; M. Pane; E. Mercuri

P.1.12
Whole exome sequencing as a genetic diagnostic tool for congenital muscular dystrophies
O. Ceyhan; B. Talim; A.H. Beggs; H. Topaloglu

P.1.13
Autophagy and the pathogenesis of congenital muscular dystrophies
E. Horstick; X. Li; S. Moore; J.J. Dowling

P.1.14
Knee extensor muscle force correlates with and may predict sit to stand ability in congenital
muscular dystrophy

M. Jain; D. Hall; M. Waite; J. Collins; K. Meilleur; A. Rutkowski; J. Dastgir; S. Donkervoort;M. Leach; C. Bonnemann

P.1.15
Clinical heterogeneity of myopathy related to partial merosin deficiency
T. Stojkovic; I. Nelson; J. Nectoux; M. Cossee; V. Allamand; C. Gartioux; R. Ben Yaou;A. Ferreiro; P. Richard; P.Y. Carlier; P. Carlier; S. Dupont; S. Lehericy; B. Eymard; G. Bonne

P.1.16
Sarcospan amelioration of muscular dystrophy restores laminin binding and is dependent on a7b1
integrin and utrophin

J.M. Marshall; J. Oh; E. Chou; J. Lee; K. Allan; J. Holmberg; D.J. Burkin;R.H. Crosbie-Watson


P.1.17
Immunostaining of the sarcolemma with a new monoclonal antibody against alpha-dystroglycan
core and its relevance to diagnosis

E. Wilson; E. Lacey; I. Holt; F. Sciandra; A. Brancaccio; J.E. Hewitt; K. Kobayashi; T. Toda;C.A. Sewry; S.C. Brown; G.E. Morris

P.1.18
NMR imaging comparison of dystrophic mouse models: mdx, Large, mdx/Large
A.B. Martins-Bach; J. Malheiros; P.C. Melo Machado; C.F. Almeida; B. Matot; P.L. de Sousa;A. Tannus; P.G. Carlier; M. Vainzof

P.1.19
Impaired viability of muscle precursor cells in muscular dystrophy with glycosylation defects and
amelioration of its severe phenotype by limited gene expression

M. Kanagawa; C.C. Yu; C. Ito; S.I. Fukada; M. Hozoji-Inada; T. Chiyo; Y. Miyagoe-Suzuki;K. Kobayashi; T. Okada; S.I. Takeda; T. Toda

P.1.20
GOSR2: A novel form of Congenital Muscular Dystrophy
L. Tsai; M. Schwake; M.A. Corbett; J. Gecz; S. Berkovic; P.B. Shieh

P.1.21
Congenital muscular dystrophy phenotype with excess of neuromuscular spindles in a 5-year old girl
L. Servais; S. Quijano-Roy; A.M. Seferian; V. Allamand; C. Baumann; P. Richard; B. Estournet;R. Carlier; M. Fardeau; T. Voit; N.B. Romero

Dystrophinopathy: functional evaluation and organ involvment; Poster 2 (P.2.1–20)

P.2.1
The Northstar Ambulatory Assessment in Duchenne Muscular Dystrophy: Considerations for the
design of clinical trials

V. Ricotti; D.A. Ridout; E. Mercuri; R. Quinlivan; S.A. Robb; A.Y. Manzur; F. Muntoni

P.2.2
North Star ambulatory assessment in young DMD boys
R. De Sanctis; F. Bianco; E. Mazzone; C. Palermo; S. Sivo; L. Fanelli; A. Graziano; M. Pane;E. Mercuri

P.2.3
Assessment of Upper Limb function in DMD patients: Comparison with normative data
E. Mazzone; M. Pane; L. Fanelli; R. De Sanctis; F. Bianco; S. Sivo; A. D’Amico; S. Messina;L. Politano; R. Battini; S. Frosini; M. Pedemonte; P. Boffi; E. Pegoraro; A.L. Berardinelli;G. D’Angelo; A. Pini; E. Iotti; G. Baranello; L. Morandi; E. Mercuri

P.2.4
Upper extremity reachable workspace evaluation in DMD using Kinect
G. Kurillo; J.J. Han; A. Nicorici; L.B. Johnson; R.T. Abresch; E.K. Henricson;C.M. McDonald; R. Bajcsy

P.2.5
Performance of Upper Limb Scale for use in Duchenne muscular dystrophy – An iterative process
to establish its suitability for clinical trials

A.G. Mayhew; M. Eagle; E. Mazzone; M. Main; M. Ash; M.K. James; M. Vandenhauwe;K. Klingels; T. Duong; J. Florence; V. Decostre; E. Mercuri; K. Bushby

P.2.6
Comparison of 6MWD and person-reported functional measures in boys with Duchenne muscular
dystrophy aged 4–12 years

E.K. Henricson; R.T. Abresch; J.J. Han; A. Nicorici; E.M. Goude; E. de Bie; C.M. McDonald

P.2.7
6 minute walk test 12 month changes in DMD: correlation with genotype
M. Pane; E. Mazzone; M.P. Sormani; R. Scalise; A. Berardinelli; S. Messina; Y. Torrente;A. D’Amico; L. Doglio; E. Viggiano; P. D’Ambrosio; F. Cavallaro; S. Frosini; L. Bello;R. De Sanctis; L. Fanelli;E. Rolle; F. Bianco; F. Magri; G.L. Vita; M.C. Motta; M.A. Donati; T. Mongini; A. Pini;R. Battini; E. Pegoraro; S.C. Previtali; S. Napolitano; C. Bruno; L. Politano; G.P. Comi;E. Bertini; E. Mercuri


P.2.8
The 6-minute walk test and clinical endpoints in Duchenne MD: Reliability, validity,
and clinically-important differences

C.M. McDonald; E.K. Henricson; R.T. Abresch; J.M. Florence; M. Eagle; E. Gappmaier;A. Glanzman; R. Spiegel; J. Barth; G. Elfring; A. Reha; S.W. Peltz; P.T.C. Study Group

P.2.9
The 6-minute walk test and other endpoints in Duchenne MD: Multi center longitudinal natural
history observations over 48 weeks

C.M. McDonald; E.K. Henricson; R.T. Abresch; J.M. Florence; M. Eagle; E. Gappmaier;A. Glanzman; P.T.C. Study Group; R. Spiegel; J. Barth; G. Elfring; A. Reha; S. Peltz

P.2.10
A shorter timed walking or running test may be sufficient for testing function in Duchenne muscular
dystrophy

L.N. Alfano; L.P. Lowes; K.M. Flanigan; J.R. Mendell

P.2.11
CINRG Duchenne Natural History Study: Relationship of longitudinal measures of ambulatorytimed function tests and loss of clinical milestones
C.M. McDonald; T. Duong; E. Henricson; T. Abresch; F. Hu; A. Cnaan; CINRG Investigators

P.2.12
The Duchenne brain: A matter of grey and white
N. Doorenweerd; C.S.M. Straathof; E.M. Dumas; E.H. Niks; D.G.M. Schrans; B.H.A. Wokke;J.C. van den Bergen; A.G. Webb; M.A. van Buchem; J.G.M. Hendriksen; J.J.G. Verschuuren;H.E. Kan

P.2.13
Neuropsychiatric comorbidities in Duchenne Muscular Dystrophy
V. Ricotti; M. Scoto; W. Mandy; K. Entwistle; A. Robb; M. Pane; E. Mercuri; D. Skuse;F. Muntoni

P.2.14
Isolated cognitive abnormalities associated to DMD mutations
J. Juan-Mateu; L. Gonzalez-Quereda; M.J. Rodriguez; C. Jou; A. Nascimento;C. Jimenez-Mallebrera; J. Colomer; M. Baiget; M. Olive; P. Gallano

P.2.15
Expectations and decision making in clinical trials for Duchenne and Becker muscular dystrophy
H. Peay; H. Sheffer; A. Tibben

P.2.16
Cooperative International Neuromuscular Research Group (CINRG) study of echocardiographic
outcome measures for use in clinical trials in muscular dystrophy

P. Clemens; C. Spurney; F. McCaffrey; L. Hache; H. Gordish-Dressman; A. Arrieta; M. Lasota;A. Connolly; C. McDonald; T. Lotze; A. Cnaan

P.2.17
Hypertrophic cardiomyopathy in a patient with Duchenne muscular dystrophy
L. Cripe; K. Hor; M. Taylor; P. Goldberg; A. Garrison; R. Spicer; K. Kinnett; L. Markham;S. Ware

P.2.18
Bone mineral density and bone mineral content as measures of bone health in ambulatory boys
with Duchenne Muscular Dystrophy

C. Tian; M. Rutter; L. Hornung; J. Khoury; L. Miller; J. Bange; B. Wong

P.2.19
Long term growth hormone therapy in Duchenne Muscular Dystrophy (DMD): A case report
H.N. Lee; S.R. Rose; M.M. Rutter; H. Sawnani; T. Ryan; I. Rybalsky; B.L. Wong

P.2.20
Prioritizing the worries of parents of children with Duchenne muscular dystrophy using best-worst
scaling

H. Peay


Distal Myopathies; Poster 3 (P.3.1–13)

P.3.1
GNE myopathy functional activity scale (GNEM-FAS): Development of a disease-specific
instrument for measuring function and independence

A.M. Skrinar; Z. Argov; Y. Caraco; E. Kolodny; H. Lau; A. Pestronk; P. Shieh; F. Bronstein;A. Esposito; Y. Feinsod-Meiri; J. Florence; E. Fowler; M. Greenberg; E. Malkus; O. Rebibo;C. Siener; J.E. Mayhew

P.3.2
Characterization of strength and function in adults with inclusion body myopathy (HIBM)/GNE
myopathy

J.E. Mayhew; A.M. Skrinar; F. Bronstein; A. Esposito; Y. Feinsod-Meiri; J. Florence;E. Fowler; M. Greenberg; E. Malkus; O. Rebibo; C. Siener; Y. Caraco; E. Kolodny; H. Lau;A. Pestronk; P. Shieh; Z. Argov

P.3.3
MUC1 is associated with the pathogenesis of GNE-myopathy
T. Kurashige; T. Takahashi; Y. Nagano; K. Kushitani; K. Sugie; S. Ueno; K. Arihiro;M. Matsumoto

P.3.4
In vivo GNE interactions
Z. Argov; A. Harazi; M. Becker Cohen; S. Hinderlich; S. Mitrani Rosenbaum

P.3.5
Identification of rare variants in GNE and other sialic biosynthetic genes in HIBM2 and sIBM
M.B. Harms; E. Kakkis; P. Allred; J.K. Hilliard; P. Cooper; J. Florence; R.H. Baloh;A. Pestronk; C.C. Weihl

P.3.6
Antioxidant capacity is impaired in hyposialylated myotubes of GNE myopathy
A. Cho; M.C. Malicdan; I. Nonaka; Y.K. Hayashi; I. Nishino; S. Noguchi

P.3.7
A prodrug strategy to increase oral absorption and bioavailability of Sialic acid in an HIBM
mouse model

G. Morris; Y. Chan; J. Grubb; S. Jungles; E. Kakkis

P.3.8
Laing early-onset distal myopathy in a Belgian family
P.Y.K. Van den Bergh; E.C. Laterre; J.J. Martin; M. Fardeau; F. Lecouvet; I. Liebaers;E. Schmedding

P.3.9
Unusual pathologic features in a patient with clinical features of Laing early onset distal myopathy
M. Margeta; G. de la Motte; N. Laing

P.3.10
An unusual double trouble of coexisting distal myopathy and distal motor neuropathy uncovered
by Exome sequencing

M. Scoto; S. Cirak; T. Whyte; A.R. Foley; M. Pitt; J. Polke; M.E. Hurles; A.Y. Manzur;U. UK10K Consortium; M.M. Reilly; F. Muntoni

P.3.11
Atypical phenotypes in titinopathies explained by second titin mutations and compound
heterozygosity

A. Evila; A. Vihola; J. Sarparanta; O. Raheem; S. Sandell; B. Eymard; I. Illa; R. Rojas-Garcia;K. Hankiewicz; L. Negrao; T. Lopponen; P. Nokelainen; M. Karppa; S. Penttila; M. Screen;T. Suominen; I. Richard; P. Hackman; B. Udd

P.3.12
Characterization of CAPN3-dependent proteolysis of C-terminal titin
J. Sarparanta; K. Charton; H. Luque; P.H. Jonson; I. Richard; B. Udd


P.3.13
Gene expression profiling in Welander distal myopathy
M. Screen; P. Hackman; P. Johson; S. Huovinen; B. Udd

Congenital Myopathies; Poster 4 (P.4.1-14)

P.4.1
PIP kinases, muscle development, and the pathogenesis of myotubular myopathy
A. Reifler; D. Michele; A. Archambeau; X. Li; J.J. Dowling

P.4.2
MTMR2 ameliorates the phenotype of myotubular myopathy in mice
N. Daniele; T. Jamet; C. Moal; R. Joubert; N. Messaddeq; M.W. Lawlor; A. Vignaud;A. Buj-Bello

P.4.3
Intravenous infusion of AAV8-MTM1 prolongs life and ameliorates severe muscle pathology
in mouse and dog models of X-linked myotubular myopathy

M.K. Childers; R. Joubert; K. Poulard; M.N. Holder; R.W. Grange; J. Doering; M.W. Lawlor;C. Moal; T. Jamet; N. Daniele; C. Martin; C. Riviere; K. Poppante; T. Soker; C. Hammer;L. Van Wittenberghe; X. Guan; M. Goddard; E. Mitchell; J. Barber; M.E. Furth; A. Vignaud;C. Masurier; P. Moullier; A.H. Beggs; A. Buj-Bello

P.4.4
BIN1 deficiency in zebrafish results in centronuclear myopathy
L.L. Smith; V.A. Gupta; A.H. Beggs

P.4.5
Muscle NMR imaging in the rare E650K mutation in the DNM2 gene in a centronuclear myopathy
patient

M. Vainzof; P. Calyjur; M.C.G. Otaduy; C.F. Almeida; A. Martins-Bach; R.Y. Carlier;J. Gurgel-Giannetti; E. Amaro; P.G. Carlier

P.4.6
Useful differential diagnostic markers between congenital myotonic dystrophy and X-linked
myotubular myopathy

K. Hamanaka; S. Noguchi; Y.K. Hayashi; I. Nishino

P.4.7
The natural history of myotubular myopathy, summary of the first year of enrollment
K. Amburgey; D. Julian; E. Howell; M. Britt; J.J. Dowling

P.4.8
X-Linked benign form of myotubular myopathy (XLMTM) with necklace fibres: A case report
C. Ortez; A. Nascimento; C. Jou; C. Jimenez-Mallebrera; S. Paco; J. Corbera; V. Viancalana;J. Colomer

P.4.9
Variable clinical and histological features in severe congenital RYR1 associated myopathy
M. Santi; L. Medne; D. Bharucha-Goebel; C. Bonnemann; J. Dastgir; K. Zukosky; P. Shieh;T. Winder; G. Tennekoon; R. Finkel; J. Dowling; N. Monnier

P.4.10
Exon skipping as a therapeutic strategy applied to a RyR1 mutation causing severe core myopathy
J. Rendu; J. Brocard; N. Monnier; F. Pietri-Rouxel; L. Garcia; J. Lunardi; J. Faure; A. Fourest-Lieuvin; I. Marty

P.4.11
Developing therapies for congenital myopathies by high throughput chemical screening in ryanodine
receptor 1 mutant zebrafish

V.A. Gupta; J.Y. Kuwada; A.H. Beggs


P.4.12
Association of two mutations in the RYR1 gene in central core disease: recessive or modifying
effect?

T. Cuperman; S. Alcantara; M. Canovas; L.U. Yamamoto; R.C. Pavanello; M. Zatz;A.S. Oliveira; M. Vainzof

P.4.13
Central core disease (CCD): Improving the screening for mutations in RYR1 gene
T. Cuperman; S. Alcantara; N.C.V. Lourenc�o; L.U. Yamamoto; R.C. Pavanello; H.C. Silva;J. Gurgel-Gianetti; M. Zatz; A.S. Oliveira; M. Vainzof

P.4.14
A novel mutation in RYR1 gene for central core disease in a Chinese family
M. Wang; Y. Lu; Y. Da

Limb Girdle Muscular Dystrophies and Emery-Dreifuss Muscular Dystrophy;Poster 5 (P.5.1–19)

P.5.1
Sarcolemmal repair and reorganization of microtubule
C. Matsuda; K. Miyake; T. Imamura; N. Araki; I. Nishino; Y.K. Hayashi

P.5.2
A comparison of muscle imaging in DYSF and ANO5 related muscular dystrophies
L. ten Dam; A.J. van der Kooi; F. Rovekamp; W.H. Linssen; M. de Visser

P.5.3
Whole body MRI study in 27 genetically confirmed Chilean patients with dysferlinopathy
J. Dıaz; L. Woudt; C. Castiglioni; L. Suazo; C. Garrido; J.A. Bevilacqua

P.5.4
Clinical outcome measures for dysferlinopathy: An exploration of reliability and suitability of novel
functional rating scales

M. Eagle; A.G. Mayhew; K. Bettinson; M.K. James; B. Von Rekowski; K. Bushby

P.5.5
Clinical and genetic characterization of a cohort of 30 Chilean patients with dysferlinopathy
J.A. Bevilacqua; C. Castiglioni; G.A. Di Capua; L. Woudt; J. Dıaz; B. Velasquez; R. Hughes;M. Campero; P. Gonzalez-Hormazabal; R. Godoy-Herrera; N. Levy; M. Krahn; L. Jara

P.5.6
Aerobic training in patients with myopathy and hyperCKemia caused by anoctamin 5 deficiency
C.R. Vissing; N.R. Preisler; E. Husu; K.P. Prahm; J. Vissing

P.5.7
Limb-girdle muscular dystrophy type 2E: Clinical, genetic and histopathological features of 27
European patients

P. Laforet; C. Semplicini; J.R. Dahlqvist; B. Eymard; L. Bello; N. Witting; T. Stojkovic;C. Angelini; M. Duno; F. Leturcq; R.Y. Carlier; J. Vissing; E. Pegoraro

P.5.8
Why is LGMD2G rare?
C.F. Almeida; P.C.G. Onofre-Oliveira; M. Zatz; L. Negrao; M. Vainzof

P.5.9
Clinical and molecular analysis of a large cohort of patients with anoctaminopathy
A. Sarkozy; D. Hicks; J. Hudson; S.H. Laval; R. Barresi; M. Guglieri; E. Harris; V. Straub;K. Bushby; H. Lochmuller

P.5.10
Clinical and ultrastructural changes in transportinopathy
C. Angelini; E. Peterle; M. Fanin; G. Cenacchi; V. Nigro

P.5.11
LGMD1D mutations in DNAJB6 disrupt disaggregation of TDP-43
R. Bengoechea; E.P. Tuck; K.C. Stein; S.K. Pittman; R.H. Baloh; H.L. True; M.B. Harms;C.C. Weihl


P.5.12
A mutation in TNPO3 causes LGMD1F and characteristic nuclear pathology
A. Kubota; M.J. Melia; S. Ortolano; J.J. Vilchez; J. Gamez; K. Tanji; E. Bonilla; L. Palenzuela;I. Fernandez-Cadenas; A. Pristoupilova; E. Garcia-Arumi; A.L. Andreu; C. Navarro; R. Marti;M. Hirano

P.5.13
Remarkable muscle pathology in DNAJB6 mutated LGMD1D
S.M. Sandell; S. Huovinen; J.M. Palmio; H. Haapasalo; B.A. Udd

P.5.14
The co-chaperone DNAJB6 – mutated in LGMD1D – and its role in handling of aggregation-prone
muscle proteins

P.H. Jonson; J. Sarparanta; H. Luque; B. Udd

P.5.15
Diagnostic challenge and therapeutic dilemma in necrotizing myopathy
K.G. Claeys; O. Gorodinskaya; S. Handt; W. Kress; C. Kornblum; J. Reimann; C. Kuhl;J.B. Schulz; J. Weis

P.5.16
Predominant right ventricular involvement in patients with laminopathies
R. Ben Yaou; K. Wahbi; C. Meune; V. Fressart; L. Feldman; A. Behin; I. Penisson-Besnier;J.A. Urtizberea; B. Eymard; P. Richard; G. Bonne; D. Duboc

P.5.17
LMNA-associated myopathies: The Italian Laminopathies Network experience in a large cohort of
patients

L. Maggi; A. D’Amico; S. Sivo; M. Pane; G. Ricci; L. Vercelli; P. D’ambrosio; M. Scarlato;E. Pegoraro; A. Toscano; S. Benedetti; G. Lattanzi; E. Bertini; E. Mercuri; G. Siciliano;C. Rodolico; T. Mongini; L. Politano; S. Previtali; N. Carboni; P. Bernasconi; L. Morandi

P.5.18
Tissue-specific expression of nesprin isoforms and its relevance to muscular dystrophy and dilated
cardiomyopathy

I. Holt; D. Nguyen Thuy; L. Le Thanh Lam; Q. Zhang; C.A. Sewry; C.M. Shanahan;G.E. Morris

P.5.19
Fhl1 W122S knock-in mice manifest late-onset mild myopathy
V. Emmanuele; A. Kubota; B. Garcia-Diaz; C. Garone; H.O. Akman; K. Tanji; C.M. Quinzii;M. Hirano

16:00–16:30
Afternoon Tea and Coffee
16:30–18:00
Guided poster discussion session 2: parallel sessions (6–10) – Fireside Underground
Facilitators: E. Bertini, D. Biggar, S. Brown, H.H. Goebel and K. Swoboda

Spinal Muscular Atrophies and Neuronopathies; Poster 6 (P.6.1–10)

P.6.1
Clinical and upper limb evaluation at one year of non-ambulant patients with spinal muscular
atrophy

A.M. Seferian; A. Moraux; M. Benali; A. Canal; V. Decostre; O. Diebate; N. Deconinck; F. VanParys; W. Vereecke; S. Wittevrongel; V. Jousten; S. Denis; J.M. Cuisset; V. Tiffreau; M. Mayer;I. Desguerre; K. Maincent; C. Themar-Noel; S. Quijano-Roy; T. Voit; J.Y. Hogrel; L. Servais

P.6.2
Development of a proof-of-concept device using the Microsoft Kinect to assess movement in infants
with spinal muscular atrophy

L.P. Lowes; L.N. Alfano; W. Ray; S. Wolock; K.M. Flanigan; J.R. Mendell; B.K. Kaspar


P.6.3
Effects of trunk support in sitting position on upper extremity endurance and performance: A case
report of Spinal Muscular Atrophy Type 2

S. Subasi; O.T. Yilmaz; A.A. Karaduman; H. Topaloglu

P.6.4
Salbutamol tolerability and efficacy in adult type III SMA patients: Results of a multicentric,molecular and clinical, double-blind, placebo-controlled study
L. Morandi; E. Abiusi; M.B. Pasanisi; R. Lomastro; S. Fiori; L. Di Pietro; C. Angelini;G. Soraru; A. Gaiani; T. Mongini; L. Vercelli; G. Vasco; G. Vita; G.L. Vita; S. Messina;L. Politano; L. Passamano; G. Di Gregorio; F.D. Tiziano

P.6.5
Improved antisense oligonucleotide design to suppress aberrant SMN2 gene transcript processing
C. Mitrpant; P.N. Porensky; H. Zhou; L. Price; F. Muntoni; S. Fletcher; S.D. Wilton;A.H.M. Burghes

P.6.6
Splice switching Antisense Oligonucleotides: A “kink” in the design?
L. Price; C. Mitrpant; S. Fletcher; S.D. Wilton

P.6.7
Wide phenotypic spectrum of SMA with lower limbs predominance due to mutations in the tail
domain of DYNC1H1 gene: A case series

M. Scoto; A. Rossor; M.B. Harms; M. Calissano; S. Cirak; A.R. Foley; C. Sewry;M. Hafezparast; S. Robb; A.Y. Manzur; R.H. Baloh; M.M. Reilly; F. Muntoni

P.6.8
Late-onset spinal motor neuronopathy (LOSMoN) - Increasing number of patients, decreasing
number of candidate genes

S. Penttila; M. Jokela; A.M. Saukkonen; J. Toivanen; B. Udd

P.6.9
Childhood relapsing immune-mediated polyneuropathy and hemolysis is associated with CD59
deficiency

Y. Nevo; B. Ben-Zeev; A. Tabib; R. Straussberg; Y. Anikster; Z. Shorer; A. Fattal-Valevski;A. Ta-Shma; S. Aharoni; M. Rabie; S. Zenvrit; H. Goldshmidt; Y. Felig; A. Shaag; D. Mevorach;O. Elpeleg

P.6.10
Phenotypic variability in a French family presenting with seipinopathy
A. Magot; Y. Ollivier; P. Latour; J. Perrier; S. Mercier; T. Maisonobe; Y. Pereon

Dystrophinopathy: natural history, registries, and training schemes; Poster 7(P.7.1–20)

P.7.1
A prospective natural history study of the progression of physical impairment, activity limitation,
and quality of life in Duchenne muscular dystrophy

N. Goemans; E. Mercuri; A. Morgan; M. Eagle; F. Lawrence; R. Wilson; L. Callendret;G. Campion

P.7.2
Natural history of a steroid naive DMD cohort
B.F. Steffensen; J. Jeppesen; U. Werlauff; J. Rahbek

P.7.3
The adult Duchenne Muscular Dystrophy (DMD) patient: Report of current status and functionalissues
J. Hsu; M. Wong; M. Sarino

P.7.4
Quality of life of adult patients with Duchenne muscular dystrophy
M. Kobayashi; K. Obara; E. Abe; C. Wada; I. Toyoshima


P.7.5
Sociodemographic and health related profile of adults with Duchenne/Becker Muscular Dystrophy
(DBMD): Data from the Muscular Dystrophy Surveillance, Tracking and Research Network (MD

STARnet)

S. Pandya; A. Kumar; K. James; C. Westfield; E. Ciafaloni; C. Cunniff; P. Romitti; R.T. Moxley;N.Y. MD STARnet

P.7.6
Needs of caregivers/families affected by Duchenne and Becker Muscular Dystrophy (DBMD): Data
from the Muscular Dystrophy Surveillance, Tracking and Research Network (MD STARnet)

S. Pandya; K. Caspers; K. Eichinger; K. Mathews; P. Romitti; N.Y. MD STARnet

P.7.7
Health care services received by patients with Duchenne/Becker muscular dystrophy (DBMD):
Data from the Muscular Dystrophy Surveillance, Tracking and Research Network (MD STARnet)

S. Pandya; K. Campbell; J. Andrews; F.J. Meaney; C. Cunniff; P. Romitti; N.Y. MD STARnet

P.7.8
The national Dutch dystrophinopathy patient registry
J.C. Bergen van den; Z. Koeks; C.S.M. Straathof; H.B. Ginjaar; I. Groot de; A. Kooi van der;A. Fock; R. Pangalila; M. Tol van der; C. Faber; N. Wolf; I. Coo de; J. Hendriksen; E. Vroom;A. Horemans; A.M. Aastsma-Rus; E.H. Niks; J.J.G. Verschuuren

P.7.9
Current status of dystrophinopathy patient registry in Japan: Remudy
E. Kimura; H. Nakamura; Y.K. Hayashi; M. Mori-Yoshimura; R. Shimuzu; H. Komaki;I. Nishino; M. Kawai; S. Takeda

P.7.10
Territory wide study of patients with dystrophinopathy in Hong Kong
S.H.S. Chan; I.F.M. Lo; S. Cherk; W.W.S. Cheng; E. Fung; W.L. Yeung; W.C. Lee; S. Wong;C.K.L. Ma; S.M. Tai; M.M. Yau; G. Ng; S.P. Wu; C.V.N. Wong

P.7.11
The clinic services resource survey on DuchenneConnect
A.S. Martin; H.L. Peay

P.7.12
Recovery of ambulation and functional mobility in boys with Duchenne Muscular Dystrophy
following femoral fractures

A. McCormick; B. Wong; M. McGuire

P.7.13
Whole body vibration training lowers serum creatine kinase levels in boys with Duchenne muscular
dystrophy

J.K. Mah; A. Khan; A. Chiu; B. Ramage

P.7.14
Effects of a regular aquatic therapy program on one individual with Duchenne Muscular Dystrophy
(DMD), A Case Study

L. Nelson; D. Early; S. Iannaccone

P.7.15
What can we learn from an assisted bicycle training in a symptomatic girl with Duchenne muscular
dystrophy? A case study

A.L.C. Huijben; M. Jansen; H.B. Ginjaar; M. Lammers; M. Putten; N. Alfen; I.J.M. de Groot

P.7.16
One year outcome assessment of young boys with DMD using the Bayley-III Scales of Infantand Toddler Development
A.M. Connolly; J.M. Florence; M.M. Cradock; E.C. Malkus; J.R. Schierbecker; C.A. Siener;C.O. Wulf; P. Anand; P.T. Golumbek; C.M. Zaidman; L.P. Lowes; L.N. Alfano;L. Viollet-Callendret; K.M. Flanigan; J.R. Mendell; C.M. McDonald; E. Goude; L. Johnson;A. Nicorici; P.I. Karachunski; J.W. Day; J.C. Dalton; J.M. Farber; K.K. Buser; B.T. Darras;P.B. Kang; S.O. Riley; E. Shriber; R. Parad; K. Bushby; M. Eagle; M.D.A. DMD


P.7.17
Effects of quadriceps muscle kinesiologic taping on gait and performance in children with Duchenne
Muscular Dystrophy

I. Alemdaroglu; G. Harput; A.A. Karaduman; N. Ergun; O. Yylmaz; H. Topaloglu

P.7.18
Effects of upper extremity exercise training on respiratory function and quality of life in childrenwith Duchenne Muscular Dystrophy
I. Alemdaroglu; A.A. Karaduman; O. Yylmaz; H. Topaloglu

P.7.19
Effects of upper extremity exercise training on upper extremity endurance in patients

I. Alemdaroglu; A.A. Karaduman; O. Yylmaz; H. Topaloglu

P.7.20
Effects of dynamic arm training on trunk muscle strength and lower extremity functions in children

I. Alemdaroglu; A.A. Karaduman; O. Yilmaz; H. Topaloglu

Alpha-dystroglycanopathies; Poster 8 (P.8.1–12)

P.8.1
Muscle biopsy findings in Limb Girdle Muscular Dystrophy 2I (LGMD2I)
S. Lindal; K. Myreng; S. Løseth; C. Jonsrud; M. Alhamidi; E. Stensland; Ø. Nilssen

P.8.2
Reduction of LARGE expression in different types of muscular dystrophies other than
dystroglycanopathy

B. Balci-Hayta; B. Talim; H. Topaloglu; G. Kale; P. Dincer

P.8.3
Chronic respiratory failure in patients with Fukuyama congenital muscular dystrophy
T. Sato; K. Ishigaki; T. Murakami; K. Saito; M. Osawa

P.8.4
Steroid treatment for exacerbation of muscle weakness after viral infection in Fukuyama congenital
muscular dystrophy

T. Murakami; K. Ishigaki; T. Sato; M. Osawa

P.8.5
Therapeutic intervention for dysphagia in patients with Fukuyama congenital muscular dystrophy
K. Ishigaki; T. Murakami; T. Saito; T. Sato; I. Kato; M. Osawa

P.8.6
Genotype/phenotype analysis in Chinese laminin-a2 deficient congenital muscular dystrophy
patients

H. Xiong; D.D. Tan; S. Wang; X.Z. Chang; Y. Yuan; X.R. Wu

P.8.7
Assessment of neuromuscular junction abnormalities induced by a-dystroglycan glycosylation
defects

M. Fernandez-Fuente; J. Kim; D. Wells; S.C. Brown

P.8.8
Basement membrane deposition during muscle development in the FKRP Deficient Mouse
J. Kim; M. Fuente-Fernandez; M. Kavishwar; S.C. Brown

P.8.9
Progressive muscular dystrophy in a mouse model of FKRP deficiency
M. Fernandez-Fuente; C. Whitmore; J. Kim; C. Parr; S.C. Brown

P.8.10
Losartan Up—Regulates NFjB signaling pathway and favors survival versus apoptosis in the dy2J/dy2J mouse model of Congenital Muscular Dystrophy
M. Elbaz; N. Yanay; S. Gelb; M. Rabie; S. Mitrani Rosenbaum; Y. Nevo


P.8.11
Glatiramer acetate improved motor conduction velocity in dy2J/dy2J mouse peripheral neuropathy
N. Yanay; Y. Nevo; Y. Felig; M. Elbaz; S. Gelb; S. Mitrani-Rosenbaum; M. Rabie

P.8.12
Mild phenotype in a Limb Girdle muscular dystrophy type 2I mouse model homozygous
for the common L276I mutation

T.O. Krag; J. Vissing

Congenital Myopathies; Poster 9 (P.9.1–17)

P.9.1
Clinical and histopathological features of nemaline myopathy
M. Karakaya; B. Talim; G. Kale; H. Topaloglu

P.9.2
Autosomal dominant nemaline myopathy with marked intrafamilial phenotypic variability
J.S. Park; J.H. Shin; S.J. Hwang; D.S. Kim

P.9.3
Repair of mutant nebulin transcripts by exon exchange
J. Laitila; J.J. Dowling; K. Pelin

P.9.4
Mutation screening of a large cohort of nemaline myopathy
Y.K. Hayashi; K. Goto; S. Noguchi; N. Matsumoto; N. Laing; K. North; N. Clark; I. Nonaka;I. Nishino

P.9.5
A novel NEFL gene mutation is identified in a family diagnosed with Nemaline Myopathy
P.B. Agrawal; M. Joshi; N. Marinakis; P.D. Ciarlini; K. Schmitz-Abe; K. Markianos;U. De Girolami; A.H. Beggs

P.9.6
Combined Cap disease and Nemaline myopathy in the same patient caused by an autosomal
dominant mutation in the TPM3 gene

E. Malfatti; U. Schaeffer; F. Chapon; Y. Yang; B. Eymard; R. Xu; J. Laporte; N.B. Romero

P.9.7
Skeletal muscle biopsy reappraisal in nebulin-related nemaline myopathy
E. Malfatti; V.L. Lehtokari; U. Schaeffer; J. Bohm; B. Estournet; S. Quijano-Roy; S. Monges;F. Lubieniecki; R. Bellance; A.L. Taratuto; B. Eymard; M. Fardeau; C. Wallgren-Pettersson;J. Laporte; N.B. Romero

P.9.8
Nemaline myopathy: Mutations in alternatively spliced exons of the nebulin gene
V.L. Lehtokari; J. Laitila; M. Hanif; K. Pelin; C. Wallgren-Pettersson

P.9.9
A novel de novo mutation in ACTA1 causes a congenital myopathy with misleading type 1 fiberpredominance and a peculiar MRI
C. Castiglioni; D. Cassandrini; F. Fattori; E. Bellacchio; K. Alvarez; A. D’Amico; R. Gejman;J. Dıaz; F.M. Santorelli; J.A. Bevilacqua; E. Bertini

P.9.10
Deleting exon 55 from the nebulin gene induces severe muscle weakness in a mouse model for
nemaline myopathy

C.A.C. Ottenheijm; D. Buck; J. de Winter; C. Ferrara; N. Piroddi; C. Tesi; R. Jasper; F. Malik;F. Meng; G. Stienen; A.H. Beggs; S. Labeit; C. Poggesi; M. Lawlor; H. Granzier

P.9.11
Transgenic zebrafish expressing mutant skeletal muscle actin, acta1a, model human nemalinemyopathy
O. Ceyhan; A.H. Beggs


P.9.12
Exploring the pathological mechanism of actin myopathies in zebrafish
T. Sztal; M. Zhao; P. Currie; N. Laing; K. Nowak; R. Bryson-Richardson

P.9.13
Congenital myopathies in a pediatric referral center
M. Karakaya; B. Talim; G. Kale; H. Topaloglu

P.9.14
Next generation sequencing provides diagnosis for multiple foetal akinesia disorders
E.J. Todd; R. Ong; C. Barnett; J. Slee; M. Ryan; K. Howell; P. Sivadorai; M.R. Davis;R.J.N. Allcock; N.G. Laing; G. Ravenscroft

P.9.15
Centronuclear myopathies: The experience of Italian Network for congenital myopathies
F. Fattori; L. Maggi; C. Bruno; V. Codemo; G. Tasca; R. Battini; A. Berardinelli;M. Catteruccia; D. Cassandrini; C. Fiorillo; M. Pane; E. Pegoraro; M. Mora; L. Morandi;P.G. Comi; E. Mercuri; L. Santoro; F.M. Santorelli; E. Bertini; A. D’Amico

P.9.16
The cause of developmental myopathy due to the embryonic myosin heavy chain Thr178Ile mutation
M. Pokrzywa; M. Ghobadpour; S. Abdul-Hussein; A.R. Moslemi; H. Tajsharghi

P.9.17
Function of CCDC78 in muscle development and muscle disease
A. Davidson; X. Li; J.J. Dowling

Neuromuscular diseases and experimental approaches; Poster 10 (P.10.1–22)

P.10.1
The Turkish version of Rasch built ACTIVLIM questionnaire for Neuromuscular disease
M. Kilinc; C. Oksuz; D. Oztuna; I. Alemdaroglu; C. Demirci; S.A. Yildirim; O.T. Yilmaz

P.10.2
Rasch measurement model to investigate the Turkish version of Abilhand-kids questionnaire
in neuromuscular disease

C. Oksuz; M. Kilinc; Y. Alemdaroglu; S. Karahan; H.A. Demirhan; O.T. Yilmaz; S.A. Yildirim

P.10.3
The characteristics of low back pain and its effects on quality of life in patients with neuromuscular
diseases

E. Ayvat; M. Kilinc; Y. Parlak Demir; S.A. Yildirim; E. Tan

P.10.4
The analysis of the factors associated with quality of life in patients with Neuromuscular diseases
E. Ayvat; M. Kilinc; G. Iyigun; S.A. Yildirim; S.E. Ozdamar

P.10.5
The effect of the limitation of ankle joint’s movement on the walking performance in neuromuscular
diseases

P. Kaya; I. Alemdaroglu; O. Yylmaz; A.A. Karaduman; H. Topaloglu

P.10.6
Reliability and validity of trunk assessment methods in neuromuscular disease
Y. Parlak Demir; M. Kilinc; S.A. Yildirim

P.10.7
The effects of trunk stabilization exercise and kinesiotaping application on patients with muscular
disease: A pilot study

C.S. Demirci; S.A. Yildirim; G. Baltaci; M. Kilinc

P.10.8
Comparison of the static and dynamic balance in different neuromuscular diseases
P. Kaya; I. Alemdaroglu; O. Yylmaz; A.A. Karaduman; H. Topaloglu


P.10.9
A cross sectional validation study of the English version of the NM-Score in patients
with neuromuscular diseases

C. Vuillerot; P. Rippert; C. Berard; C. Bonnemann; K. Meilleur; M. Jain; M. Waite;C.A.M. Payan; D. Hamroun; I. Poirot; R. Ecochard

P.10.10
The Rasch-scaled motor function measure for patients with congenital disorders of muscle
C. Vuillerot; P. Rippert; M. Jain; M. Waite; A. Glanzman; V. Kinet; S. Auh; C. Berard;C.A.M. Payan; D. Hamroun; I. Poirot; R. Ecochard; C. Bonnemann

P.10.11
Validity of the 2 minute walk test as an outcome measure in individuals with CMD and other
neuromuscular diseases

M. Jain; R. Logaraj; M. Waite; C.Y. Shieh; J. Dastgir; S. Donkervoort; M. Leach;C. Bonnemann

P.10.12
Difference of the mechanism of dysphagia between Duchenne muscular dystrophy and myotonicdystrophy type 1
H. Furuya; G. Umemoto; T. Kikuta; H. Arahata; N. Fujii

P.10.13
Swallowing evaluation in adult neuromuscular patients
S. Serel; N. Demir; A.A. Karaduman

P.10.14
IBIC-NMD: Database of muscular images
T. Nakayama; Y. Oya; H. Komaki; N. Sato; K. Satoshi

P.10.15
Clinical aspects on estimation of renal function in patients with primary neuromuscular disease
C. Lindberg; A. Aldenbratt; B. Andersson; K. Hakansson; M. Svensson

P.10.16
The presence of developmental and fetal/neonatal myosin in neonatal human muscle
L. Feng; M. Scoto; D. Chambers; R. Phadke; F. Muntoni; C.A. Sewry

P.10.17
Morphological changes in skeletal muscle associated with chronic ischemia
A. Oldfors; M. Ullman; I.M. Fyhr; A.R. Moslemi

P.10.18
Common Data Elements for Muscle Biopsy Reporting
J. Dastgir; A. Rutkowski; R. Alvarez; S. Cossette; K. Yan; R. Hoffmann; C. Sewry; Y. Hayashi;S.A. Moore; H. Goebel; C. Bonnemann; M.W. Lawlor

P.10.19
Net muscle volumetry using MRI and CT
T. Nakayama; S. Kuru

P.10.20
Recent and future additions to the MDA Monoclonal Antibody Resource for Neuromuscular
Disorders

L. Le Thanh Lam; I. Holt; E. Humphrey; C.A. Sewry; M. Nguyen thi Man; G.E. Morris

P.10.21
Next-generation sequencing meets genetic diagnostics: Development of a comprehensive workflow
for neuromuscular disorders

A. Kesari; J. Punetha; P. Uapinyoying; N. Clarke; L. Waddell; K. North; P. Plotz;C. Tesi-Rocha; C. Bonnemann; C. Grosmann; T. Bertorini; E. Hoffman

P.10.22
Powerful mouse resource for determining modifier genes for neuromuscular diseases
J.K. Boutilier; J. Ma; R. Ram; E. McNamara; N.G. Laing; G.E. Morahan; K.J. Nowak

19:00–21:30
Genzyme Industry Symposium - Merrill Hall


Thursday 3 October 2013

09:00–10:30
Immunity and Muscle Disease; Invited lectures (I.I.1–3) – Merrill Hall
Chairpersons: M. de Visser and W. Stenzel

I.I.1
Myopathologic classification of acquired immune and inflammatory myopathies
A. Pestronk

I.I.2
Role of cytokines and chemokines in inflammatory myopathies
J.L. De Bleecker

I.I.3
Amyloid deposits and inflammatory infiltrates in sporadic inclusion body myositis: Which came
first, the chicken or the egg?

O. Benveniste

10:30–11:00
11:00–11:30
Immunity and Muscle Disease; Invited lecture (I.I.4) – Merrill Hall
Chairpersons: W. Stenzel and M. de Visser

I.I.4
Autoimmune muscle diseases in dogs and cats: Spontaneous models for evaluation of therapies?
G.D. Shelton

11:30–12:30
New Developments in the Spinal Muscular Atrophies; Oral Presentations (O.7–10)– Merrill Hall
Chairpersons: S. Iannaccone and T.Voit

O.7
Spinal muscular atrophy: how it works and therapeutic targets
A. Burghes; V. McGovern; P. Porensky; D. Arnold; A. Laporte; K. Foust; C. Mitrpant; T. Le;S. Wilton; B. Kaspar

O.8
Intrathecal delivery of AAV9 vectors to model and rescue a large animal model of SMA
S. Duque; P. Porensky; D.A. William; P. Odermatt; R. Nlend Nlend; A.K. Bevan; K. Foust;L. Braun; L. Schmelzer; D. Schumperli; B.K. Kaspar; A.H.M. Burghes

O.9
First-in-human phase I study to assess safety, tolerability and dose for intrathecal injection
of ISIS-SMNRx in SMA patients

K. Swoboda; C. Chiriboga; B. Darras; S. Iannaccone; J. Montes; N. Rausch; R. Parad;S. Johnson;D. De Vivo; D. Norris; K. Alexander; F.C. Bennet; K. Bishop

O.10
Mutations in a new dynein/dynactin adaptor gene cause Dominant Congenital Spinal Muscular
Atrophy (DCSMA) and Hereditary Spastic Paraplegia (HSP)

E.C. Oates; A.M. Rosser; M. Hafezparast; M. Lek; M. Scoto; L. Greensmith;M. Auer-Grumbach; R. Schule; D.N. Herrmann; N.F. Clarke; D.G. MacArthur;S. Zuchner; F. Muntoni; M.M. Reilly; K.N. North

12:30–14:00
Meeting of Editorial Board of Neuromuscular Disorders - Kiln (Lunch served)


14:00–14:30
Advances in FSH research; Invited lecture (G.I.1) – Merrill Hall
Chairpersons: K. Flanigan and M. Zatz

G.I.1
New advances in facioscapulohumeral dystrophy
S.M. van der Maarel

14:30–16:00
Guided poster discussion session 3: parallel sessions (11–15) – FiresideUnderground
Facilitators: C. Angelini, P. Clemens, B. Eymard, D. Hilton-Jones and Z. Argov

Dystrophinopathy: pharmaco- and pharmaco-gene therapy; Poster 11 (P.11.1–21)

P.11.1
Peptide-PMO induced exon-skipping restores muscle physiology in the mdx mouse
K.E. Wells; S. Muses; R. Terry; M.J. Wood; M.J. Gait; D.J. Wells

P.11.2
Naproxcinod, a nitric oxide-donating anti-inflammatory compound, is effective in two mouse models
of muscle dystrophy

D. Miglietta; C. Sciorati; C. De Palma; E. Ongini; E. Clementi

P.11.3
Long term treatment with naproxcinod significantly improves skeletal and cardiac function in mdx
mouse model of dystrophy

K. Nagaraju; K. Uaesoontrachoon; J. Quinn; K. Tatem; B. Creeden; J. Vandermeulen; Q. Yu;H. Gordish; E. Ongini; D. Miglietta

P.11.4
Altered mechano-transduction in dystrophic muscle is accompanied by changes in functionand expression of ClC-1 chloride channel
G.M. Camerino; R.F. Capogrosso; M. Cannone; A. Cozzoli; A. De Luca

P.11.5
PMO-mediated dystrophin exon 23 skipping restores mitochondrial function in the mdx mouse
heart

S. Fletcher; H.M. Viola; A.M. Adams; S.D. Wilton; L.C. Hool

P.11.6
Functional motor changes in Duchenne Muscular Dystrophy (DMD) patients on long term daily
glucocorticoid (GC) treatment

B.L. Wong; L. Miller; S.Y. Hu; P. Horn; A. McCormick; M. McGuire; I. Rybalsky;P. Morehart; J. Bange; J. Collins

P.11.7
Prediction equations based on arm measurements may overestimate standing height in Duchenne
Muscular Dystrophy (DMD) patients on glucocorticoid (GC) therapy

B.L. Wong; L. Miller; S.Y. Hu; P. Horn; A. Cantanzaro; B. Godshall

P.11.8
The impact of deflazacort on upper extremity function in young adults with Duchenne muscular
dystrophy

L.C. McAdam; W.D. Biggar

P.11.9
Analyses of 70 patients with Duchenne muscular dystrophy receiving intermittent intravenouscombined with oral glucocorticoid therapy
H. Jing; H. Keyou; B. Qi


P.11.10
Height predictions using ulna length are inaccurate in glucocorticoid-treated boys with Duchenne
Muscular Dystrophy (DMD)

M.M. Rutter; J. Collins; H. Sawnani; P. Horn; S. Blum; S.Y. Hu; P. Morehart; M.D. Taylor;B.L. Wong

P.11.11
Pulmonary function characteristics of boys with Duchenne Muscular Dystrophy by age groups,
ambulatory status and steroid use

R.T. Abresch; C.M. McDonald; E.K. Henricson; N. Gustavo; F. Hu; T. Duong; N. Joyce;J. Mah

P.11.12
Pulmonary function characteristics of boys with Duchenne muscular dystrophy: Data from the
CINRG longitudinal study project

R.T. Abresch; C.M. McDonald; E.K. Henricson; N. Gustavo; F. Hu; T. Duong; N. Joyce;J. Mah

P.11.13
Phosphorothioate modification increases capability of dystrophin exon 45 skipping and reduces
cytotoxicity of RNA/ENA chimera

R.G. Malueka; E.K. Dwianingsih; M. Yagi; H. Awano; T. Lee; A. Nishida; Y. Takeshima;M. Matsuo

P.11.14
Phase 1b single and multiple ascending dose study to evaluate the safety, tolerability and
pharmacokinetics of HT-100 in DMD

D.M. Escolar; J. Davis-Golden; J. Loewy; E. Bush; K. Dykstra; M. Blaustein

P.11.15
Recombinant human insulin-like growth factor-I (IGF-I) therapy in Duchenne Muscular Dystrophy(DMD): A 6-month prospective randomized controlled trial
M.M. Rutter; J. Collins; P.F. Backeljauw; P. Horn; M.D. Taylor; S.Y. Hu; S. Blum;P. Morehart; H. Sawnani; B.L. Wong

P.11.16
Three-dimensional gait analysis of Duchenne muscular dystrophy; A trial to evaluate the
therapeutic effect of RNA/ENA chimera antisense oligonucleotide that induces dystrophin exon 45

skipping

Y. Takeshima; M. Yagi; T. Lee; N. Kusunoki; I. Ojima; S. Minami; T. Asai; A. Nakagawa;K. Iijima; M. Matsuo

P.11.17
Optimization of preclinical antisense oligonucleotide development for Duchenne muscular dystrophy
I.G.M. Kolfschoten; A.A.M. Janson; R.E.Y. van den Eijnde; S. Bijl;M.H.C. Zonneveld-Mulder; P.C. de Visser; J.C.T. van Deutekom

P.11.18
Design of a confirmatory phase 3, multicenter, randomized, double-blind, placebo-controlled study
of ataluren in patients with nonsense mutation Duchenne muscular dystrophy

J. Barth; A. Reha; R. Spiegel; G.L. Elfring; M. Husain; S.W. Peltz

P.11.19
Phase 2b, dose-ranging study of ataluren (PTC124�) in nonsense mutation Duchenne muscular
dystrophy - results of a post-hoc analysis of change in %-predicted 6-minute walk distance

C.M. McDonald; E.K. Henricson; R.T. Abresch; G.L. Elfring; J. Barth; S.W. Peltz; A. Reha

P.11.20
Results at 2 years of a phase IIb extension study of the exon-skipping drug eteplirsen in patients
with DMD

J.R. Mendell; L. Rodino-Klapac; Z. Sahenk; K. Roush; L. Bird; L.P. Lowes; L. Alfano;A.M. Gomez; S. Lewis; V. Malik; K. Shontz; K.M. Flanigan; J.R. Kean; H.D. Allen; C. Shilling;P. Sazani; J. Saoud; E.M. Kaye


P.11.21
Bioanalysis of a double blind, placebo-controlled clinical phase 2 study of drisapersen
for the treatment of boys suffering from Duchenne Muscular Dystrophy and comparison

to clinical outcome results

A. Lourbakos; C. Beekman; T. Holling; J. Testerink; D. Duinsbergen; S. Giannakopoulos;A. Morgan; J. van Deutekom; G. Campion; K. Rolfe; J. Kraus; S. Hood; S. de Kimpe

Congenital Myasthenias and Myotonic Disorders; Poster 12 (P.12.1-12)

P.12.1
Diagnostic pitfalls in congenital myasthenic syndromes in children: Clinical experience
in an academic neuromuscular centre

M.S. Ekker; A. Rietveld; E.J. Kamsteeg; N. Alfen van; L.T.L. Sie; C.E. Erasmus

P.12.2
Dominant distal myopathy due to slow channelopathy
C. Angelini; G. Vazza; M.L. Mostacciuolo

P.12.3
Do congenital myasthenic syndromes in childhood have a common face? Clinical profile of slowchannel, CHRNE and RAPSYN mutations
M.S. Ekker; A. Rietveld; B. Eymard; C.E. Erasmus; L.T.L. Sie

P.12.4
Great phenotypic variability in two siblings affected by congenital myasthenic syndrome associated
with mutations in MUSK

L. Maggi; R. Brugnoni; P. Confalonieri; V. Scaioli; L. Morandi; A.G. Engel; R. Mantegazza;P. Bernasconi

P.12.5
Subunit specific effects of the invariant AChR Cys-Loop Aspartate residues on gating and AChR
expression

X.M. Shen; J.M. Brengman; D. Neubauer; A.G. Engel

P.12.6
Congenital myasthenic syndromes: Diagnosis difficulties, course and prognosis, and therapy – The
French CMS network experience

B. Eymard; T. Stojkovic; D. Sternberg; P. Richard; S. Nicol; E. Fournier; A. Behin; P. Laforet;L. Servais; N. Romero; M. Fardeau; D. Hantaı

P.12.7
Swallowing evaluation in Escobar syndrome : A case report
S. Serel; N. Demir; A.A. Karaduman; H. Kayyhan; H. Topaloglu

P.12.8
The results of aerobic exercise program in Escobar syndrome: A case report
S. Subasi; I. Alemdaroglu; O. Yilmaz; A.A. Karaduman; E. Kilic

P.12.9
Electrophysiological characterization of novel CLCN1 mutations found in Korean patients
with myotonia congenita

J.H. Shin; Y.E. Park; K. Ha; I.S. So; D.S. Kim

P.12.10
Exome sequencing analysis reveals a mutation of Kir3.4 in a patient with Andersen-Tawil syndrome
Y. Kokunai; M. Nakamori; T. Kubota; H. Mochizuki; M.P. Takahashi; T. Nakata; K. Ohno;S. Sakata; Y. Okamura; H. Kimura; H. Itoh; M. Horie; Y. Osaki; K. Shindo

P.12.11
Atypical paramyotonia congenita in a boy with a new mutation in the SCN4A gene
S. Wallace; K. Ørstavik; T. Torbergsen; A. Abicht; M. Rasmussen


P.12.12
Preclinical in vitro and in vivo evaluation of sodium channel blockers as possible alternative
to mexiletine in the treatment of myotonia

J.F. Desaphy; R. Carbonara; T. Costanza; G. Lentini; M.M. Cavalluzzi; C. Franchini;D. Conte Camerino

Dystrophinopathies: imaging and biomarkers; Poster 13 (P.13.1–14)

P.13.1
Molecular biomarker of angiogenesis in neuromuscular disorders
T. Saito; A. Kikuchi-Taura; S. Tada; A. Iyama; N. Kimura; T. Matsumura; H. Fujimura;S. Sakoda

P.13.2
A prostaglandin D2 metabolite is elevated in the urine samples of patients with Duchenne muscular
dystrophy

T. Nakagawa; A. Takeuchi; R. Kakiuchi; T. Lee; M. Yagi; H. Awano; K. Iijima; Y. Takeshima;Y. Urade; M. Matsuo

P.13.3
Serum miRNA profiling of GRMD dog identified novel cardiomyopathy biomarker candidates
for DMD

L. Jeanson-Leh; S. Krimi; J. Buisset; F. Amor; C. Le Guiner; L. Servais; T. Voit; D. Israeli

P.13.4
Diaphragm structural abnormalities revealed by NMR imaging in the dystrophic dog
J.L. Thibaud; B. Matot; I. Barthelemy; S. Blot; P.G. Carlier

P.13.5
Magnetic resonance imaging and spectroscopy detect changes with age, corticosteroid treatment,
and functional progression in DMD

R.J. Willcocks; S.C. Forbes; E.L. Finanger; B.S. Russman; D.J. Lott; C.R. Senesac;W.T. Triplett; I. Arpan; M.J. Daniels; B.J. Byrne; R.S. Finkel; G.I. Tennekoon; W.D. Rooney;G.A. Walter; H.L. Sweeney; K. Vandenborne

P.13.6
Nuclear Magnetic Resonance imaging and spectroscopy provide quantitative indices of disease
severity in forearms of boys with Duchenne Muscle Dystrophy

C. Wary; N. Azzabou; K. Zehrouni; C. Giraudeau; J. Le Louer; T. Voit; L. Servais; P.G. Carlier

P.13.7
Elevated muscle metabolites in Becker muscular dystrophy detected by MR spectroscopy
M.T. Hooijmans; B.H.A. Wokke; J.C. van den Bergen; A.A. Aartsma-Rus; E.H. Niks;A.G. Webb; J.J.G. Verschuuren; H.E. Kan

P.13.8
MRI measures of bone in Duchenne muscular dystrophy
E.L. Finanger; J. Pollaro; B. Russman; D.J. Lott; B.J. Bryne; R.S. Finkel; G.I. Tennekoon;S.C. Forbes; G.A. Walter; K. Vandenborne; W.D. Rooney

P.13.9
Acoustic radiation force impulse imaging for the differentiation of muscle tissue stiffness
in neuromuscular disorders

J. Dastgir; C. Vuillerot; K. Harrison; A. Poon; S. Donkervoort; M. Leach; M. Jain; K. Meilleur;A. Rutkowski; A. Mankodi; C. Bonnemann

P.13.10
Unexpected findings in array analysis with possible implications for dystrophinopathy
I. Ginjaar; D. Van Heusden; C.G.C. Dutch University Hospitals; M.J.V. Hoffer

P.13.11
Proteomic analysis of cardiomyopathic tissue from the aged mdx model of Duchenne muscular
dystrophy

A. Holland; K. Ohlendieck


P.13.12
An objective method for immunofluorescence analysis of dystrophin levels in muscle from DMD
patients in clinical studies

C. Beekman; J. Testerink; S. Giannakopoulos; D. Kreuger; J. Sipkens; J. van Deutekom;G. Campion; S. de Kimpe; A. Lourbakos

P.13.13
Electrical impedance myography in DMD: A multi-center study of reliability and relationships to
strength and function

C. Zaidman; J. Bohorquez; L. Wang; J. Florence; A.M. Connolly; D.M. Escolar; G. Williams

P.13.14
Future clinical and biomarker development for SMTC1100, the first utrophin modulator to enter
clinical trials for Duchenne Muscular Dystrophy (DMD)

J.M. Tinsley; N. Robinson; F.X. Wilson; G. Horne; R.J. Fairclough; K.E. Davies

Immune Myopathies I; Poster 14 (P.14.1–17)

P.14.1
Dysregulation of innate immunity-related genes in Dermatomyositis
X. Suarez-Calvet; E. Gallardo; G. Nogales-Gadea; M. Navas; L. Querol; J. Diaz-Manera;R. Rojas-Garcia; I. Illa

P.14.2
Dermatomyositis associated with MDA-5 antibodies: Report of the first European series
Y. Allenbach; G. Leroux; Y. Uzuhnan; D. Valeyre; D. Saadoun; F. Aubart; B. Hervier; M. Hie;J. Wipff; M. Myiara; J.L. Charuel; L. Musset; S. Audia; H. Devillier; B. Bonnote; S. Barete;N. Nimal; A. Rigolet; S. Herson; O. Benveniste

P.14.3
Dermatomyositis in a patient with Behcet’s disease
H. Karasoy; O. Ekmekc�i; A.N. Yuceyar

P.14.4
Diagnostic role of quantitative NMR imaging exemplified by 3 cases of juvenile dermatomyositis
P.G. Carlier; N. Azzabou; P. Loureiro de Sousa; B. Florkin; E. Deprez; N.B. Romero; S. Denis;V. Decostre; L. Servais

P.14.5
Antibodies against TIF1-gamma in cancer associated myositis may precede cancer symptoms and
persist after cancer removal

I.E. Lundberg; L. Dani; M. Dastmalchi; M.A. Martınez; M. Labrador-Horrillo;A. Selva O’Callaghan

P.14.6
Evidence for a direct role of anti-signal recognition particle antibodies in the pathogenesis ofnecrotizing myopathies
C. Bloch Queyrat; L. Drouot; L. Arouche; G. Butler-Browne; O. Boyer; O. Benveniste

P.14.7
Anti-SRP antibody induces muscle cell lysis through complement mediated pathway
A. Rojana-udomsart; C. Mitrpant; C. Bundell; P. Hollingsworth; F.L. Mastaglia

P.14.8
Ethnic origins influence the natural history modelling of necrotizing myopathy with anti-SRP
antibodies

C. Bloch Queyrat; A. Rigolet; Y. Allenbach; L. Musset; J.M. Treluyer; S. Urien; O. Benveniste

P.14.9
Functional redundancy of MyD88-dependent signaling pathways in a murine modelof histidyl-tRNA synthetase-induced myositis
I. Fernandez; L. Harlow; Y. Zang; R. Liu-Bryan; W. Ridgway; P. Clemens; D. Ascherman


P.14.10
Respiratory failure as presenting symptom of paraneoplastic necrotizing autoimmune myopathy
B. Jaeger; M. de Visser; E. Aronica; A.J. van der Kooi

P.14.11
Auto-immune necrotizing myopathies with anti-HMGCR antibodies are related to statin-exposure
only for a minority of cases

Y. Allenbach; A. Rigolet; L. Drouot; J.L. Charuel; F. Jouen; F. Jouen; T. Maisonobe;O. Dubourg; A. Behin; B. Eymard; P. Laforet; T. Stojkovic; I. Konepaut; I. Konepaut;P. Cacoub; P. Kieffer; O. Fain; J. Cosserat; L. Morati; E. Salort; D. Menard; J.C. Antoine;A. Tournadre; V. Bader Menier; X. Ferrer; C. Laroche; L. Musset; S. Herson; O. Boyer;O. Benveniste

P.14.12
Mutations in prion domains of RNA binding proteins hnRNPA2/B and A1 cause IBM associated
with Paget’s disease, dementia and ALS

C.C. Weihl; M. Benatar; V.E. Kimonis; J. Shorter; J.P. Taylor

P.14.13
Involvement of optineurin as well as TDP-43 in the pathogenesis of inclusion body myositis
S. Yamashita; N. Tawara; K. Kawakami; T. Nishikami; Y. Maeda; Y. Ando

P.14.14
LC3, p62 and TDP-43 immunohistochemistry in differentiation of inclusion body myositis from
other T-cell inflammatory myopathies

A.E. Hiniker; B.H. Daniels; H.S. Lee; M. Margeta

P.14.15
High prevalence of hepatitis C virus infection in a Japanese inclusion body myositis cohort
A. Uruha; S. Noguchi; Y.K. Hayashi; I. Nishino

P.14.16
Longitudinal changes in strength and functional outcomes in sporadic inclusion body myositis
L.P. Lowes; L.N. Alfano; I. Dvorchik; H. Yin; E.G. Maus; K.M. Flanigan; J.R. Mendell

P.14.17

P.14.17
Evaluation of the ability of timed walking tests to quantify function in sporadic inclusion body
myositis

L.N. Alfano; L.P. Lowes; I. Dvorchik; H. Yin; E.G. Maus; K.M. Flanigan; J.R. Mendell

Myofibrillar and other Myopathies; Poster 15 (P.15.1–12)

P.15.1
Evaluation of pathogenicity of a novel BAG3 mutation by using transgenic medaka
S. Ohisa; K.Y. Hayashi; T. Sato; S. Noguchi; I. Nonaka; I. Nishino

P.15.2
Elucidating the mechanism of disease in BAG3 related myofibrillar myopathy
A.A. Ruparelia; R.J. Bryson-Richardson

P.15.3
Effects of ZASP mutations on Z-disc proteins associated with myofibrillar myopathy in skeletal
muscle

X. Lin; L. Brubaker; I. Bajraktari; R. Ohman; R. Griggs; K. Fischbeck; A. Mankodi

P.15.4
ZASP-sZM mutations in myofibrillar myopathy cause skeletal muscle Z-disc disruption by
disassembling a-actinin cross-linked skeletal actin filaments

X. Lin; J. Ruiz; I. Bajraktari; S. Banerjee; K. Gribble; R. Griggs; K. Fischbeck; A. Mankodi

P.15.5
An unsual phenotype of late onset desminopathy
J.M. Palmio; S. Penttila; B. Udd


P.15.6
Desminopathy or myotilinopathy? An integrated proteomics approach for diagnosis
A. Maerkens; A. Sarkozy; R. Barresi; T. Evangelista; K. Bushby; K. Marcus; M. Vorgerd;H. Lochmuller; R.A. Kley

P.15.7
A founder mutation in the titin gene is a common cause of myofibrillar myopathy with earlyrespiratory failure
G. Pfeffer; R. Barresi; I.J. Wilson; S.A. Hardy; H. Griffin; J. Hudson; H.R. Elliott; A.V. Ramesh;A. Radunovic; J. Winer; S. Vaidya; A. Raman; M. Busby; M.E. Farrugia; A. Ming; C. Everett;H.C.A. Emsley; R. Horvath; V. Straub; K. Bushby; H. Lochmuller; P. Chinnery; A. Sarkozy

P.15.8
Hereditary myopathy with early respiratory failure (HMERF) – Rapid increase of identified
titinopathy families worldwide

J. Palmio; A. Evila; G. Tasca; L. Edstrom; A. Oldfors; B. Udd

P.15.9
An X-linked dominant mutation in LAMP2 causing Danon disease associated with myotoniaexpanding the spectrum
S.H.S. Chan; A. Kan; H.F. Tse

P.15.10
Megaconial myopathy presenting as a progressive limb-girdle myopathy
A. Behin; P. Laforet; E. Malfatti; N. Pellegrini; Y. Hayashi; R.Y. Carlier; D. Orlikowski;S. DiMauro; I. Nishino; N. Romero

P.15.11
Megaconial congenital muscular dystrophy in two children with mutations in the CHKB Gene
A. Nascimento; C. Jou; C. Ortez; Y.K. Hayashi; I. Nishino; M. Olive; I. Ferrer; J. Colomer;S. Paco; C. Jimenez-Mallebrera

P.15.12
Tubular aggregate myopathy caused by a heterozygous missense mutation in STIM1
A. Oldfors; C. Hedberg; B. Lindvall; M. Tulinius

16:00–16:30
Afternoon Tea and Coffee
16:30–18:00
Guided poster discussion session 4: parallel sessions (16–21) – FiresideUnderground
Facilitators: V. Mouly, R. Haas, B. Schoser, H. Amthor, I. Nonaka and I. Lundberg

Facioscapulohumeral and Oculopharyngeal Muscular Dystrophies; Poster 16(P.16.1–13)

P.16.1
DUX4 regulates expression of the Pro-Apoptotic Gene, p63
J.S. Domire; L.M. Wallace; S. Guckes; J. Liu; S.Q. Harper

P.16.2
The DUX4 promoter is expressed in FSHD-affected tissues
L. Wallace; J. Liu; S. Garwick-Coppens; S. Guckes; S. Harper

P.16.3
DUX4 and DUX4 downstream target genes are expressed in fetal FSHD muscles
M. Ferreboeuf; V. Mariot; B. Bessieres; A. Vasiljevic; T. Attie-Bitach; S. Collardeau; S. Roche;F. Magdinier; J. Robin-Ducellier; P. Rameau; S. Whalen; S. Sacconi; V. Mouly;G. Butler-Browne; J. Dumonceaux


P.16.4
Psychoanalysis impact to facioscapulohumeral (FSHD) patients
J. Forbes; T. Genesini; C. Riolfi; E. Macedo; D. Rudiger; L. Lise; A. Mouzat; R.C.M. Pavanello;M. Zatz

P.16.5
Anxiety is responsible for altered sleep quality in Facio-Scapulo-Humeral Muscular Dystrophy(FSHD)
L. Leclair-Visonneau; A. Magot; A. Tremblay; X. Bruneau; Y. Pereon

P.16.6
Modification of 4q35 and muscular gene expression in fetuses carrying a shortened D4Z4 array
linked to FSHD

N. Broucqsault; S. Roche; J. Morere; M.C. Gaillard; N. Levy; K. Nguyen; F. Magdinier

P.16.7
Length dependent telomere looping affects long-distant gene expression (5Mb) in FSHD
J.D. Robin; A.T. Ludlow; G. Stadler; F. Magdinier; W.E. Wright; J.W. Shay

P.16.8
Does endurance training and protein supplementation improve fitness in patients withFacioscapulohumeral Muscle Dystrophy (FSHD)?
G. Andersen; K.P. Prahm; J. Dahlquist; G. Citirak; J. Vissing

P.16.9
Epigenetic variability is a modifier of facioscapulohumeral muscular dystrophy
T.I. Jones; C. Debarnot; C. Himeda; C.Y. Sun; C.P. Emerson; P.L. Jones

P.16.10
Muscle MRI of scapular girdle in Facioscapulohumeral muscular dystrophy (FSHD)
G. Tasca; M. Monforte; E. Iannaccone; M. Masciullo; F. Laschena; P. Ottaviani; E. Ricci

P.16.11
Upper extremity reachable workspace evaluation in FSHD using Kinect
J.J. Han; G. Kurillo; A. Nicorici; L.B. Johnson; R.T. Abresch; E.K. Henricson;C.M. McDonald; R. Bajcsy

P.16.12
OPMD from the myoblast’s and fibroblast’s point of view
T. Gidaro; E. Negroni; P. Klein; M. Oloko; M. Lesnik; A. Bigot; K. Mamchaoui; S. Perie;J.L. St Guily; G. Butler-Browne; V. Mouly; C. Trollet

P.16.13
Myopathy with typical OPMD morphology without association with the PABPN1 gene locus
C. Hedberg; P. Chinnery; C. Lindberg; T. Martinsson; A. Oldfors

Metabolic Myopathies; Poster 17 (P.17.1–19)

P.17.1
Phenotypic variation within 22 families with Pompe disease
S.C.A. Wens; C.M. Van Gelder; M.E. Kruijshaar; J.M. De Vries; N.A.M. Van der Beek;A.J.J. Reuser; P.A. Van Doorn; A.T. Van der Ploeg; E. Brusse

P.17.2
Late onset Pompe disease with dilated cardiomyopathy
T. Kurashige; N. Shiroma; A. Motoda; H. Ikenaga; N. Oda; T. Takahashi; M. Kosuga;Y. Kihara; K. Arihiro; M. Matsumoto

P.17.3
Changes in the six minute walk test (6MWT) in Pompe disease
A. Dubrovsky; F. Chloca; J.R. Corderi; A. Jauregui

P.17.4
Magnetic Resonance Imaging (MRI) to evaluate the effect of enzyme replacement therapy in LateOnset Pompe Disease (LOPD)
M. Corti; C. Baligand; L. Falk; G.A. Walter; B.J. Byrne


P.17.5
Analysis of Motor Assessments Administered at Treatment Initiation for Patients in the Pompe
Registry

A. van der Ploeg; C. Angelini; P.S. Kishnani; H. Amartino; W. Muller-Felber; M.E. Kruijshaar;Z. Devecseri; T. Miller; A. Wilson; L.E. Case

P.17.6
Globular inclusions are a frequent finding in infantile Pompe’s disease
C. Jou; A. Nascimento; C. Ortez; M. Olive; I. Ferrer; V. Cusı; C. Rovira; M. Sunol; J. Corbera;J. Colomer; C. Jimenez-Mallebrera

P.17.7
Quantitative NMR imaging of lower limb musculature in type II glycogenosis patients: Preliminary
analysis of a 4-year follow-up

P.G. Carlier; N. Azzabou; P. Loureiro de Sousa; R.Y. Carlier; J.M. Boisserie; C. Wary;D. Orlikowski; P. Laforet

P.17.8
The co-formulation of pharmacological chaperone AT2220 with recombinant human acid alpha-glucosidase improves enzyme uptake and glycogen reduction in a mouse model of Pompe disease
R. Khanna; S. Xu; L. Pellegrino; Y. Lun; R. Soska; J. Feng; M. Frascella; A. Garcia;J. Flanagan; D.J. Lockhart; K.J. Valenzano

P.17.9
AAV9 vector encoding hGAA improves synaptic pathology of the neuromuscular junction in Pompe
disease

D.J. Falk; A.G. Todd; M.S. Soustek; D.C. Cloutier; M. ElMallah; D.D. Fuller; B.J. Byrne

P.17.10
New ETFDH mutations in a group of Italian patients with Riboflavin-Responsive Multiple
Acyl-CoA Dehydrogenase Deficiency (RR-MADD).

A. Toscano; E. Barca; C. Rodolico; S. Romeo; A. Ciranni; M. Aguennouz; G. Vita;O. Musumeci

P.17.11
c.250G>A in ETFDH, a common sequence variant in southern Chinese population is a pathogenic
mutation to cause multiple acyl-CoA dehydrogenase deficiency

W.C. Liang; Y.F. Lin; D.Y. Liu; I. Nishino; Y.J. Jong

P.17.12
POLG mitochondrial myopathy presenting as a limb girdle syndrome
C.K. Jablecki; Z. Zolkipli; A. Du; C. Xu; T. Le; R.H. Haas

P.17.13
Steroid-responsive polyneuropathy with MRI cauda equina root involvement in a girl with novelheterozygous POLG mutation
A. Kostera-Pruszczyk; M. Nojszewska; E. Maj; M. Golebiowski; M. Kaliszewska; K. Tonska;E. Bartnik; T. Mazurczak; A. Kaminska

P.17.14
Myohistological mitochondrial changes in patients with mtDNA singular deletions, multiple
deletions and A3243G point mutation

P.R. Joshi; C. Zierz; S. Zierz

P.17.15
Life-threatening lactic acidosis occuring in adults with rare mutations of mtDNA: About three cases
P. Laforet; C. Pottier; A. Behin; M. Gilleron; T. Sharshar; A. Lombes; C. Jardel; B. Eymard

P.17.16
Enophthalmos and MELAS
J.P. Simon; F. Mouriaux; E. Emery; F. Chapon

P.17.17
McArdle disease with pronounced axial myopathy
N. Witting; M. Duno; M. Piraud; J. Vissing


P.17.18
Contribution of muscle MRI and 13C nuclear magnetic resonance spectroscopy in McArdle disease
C. Semplicini; R.Y. Carlier; T. Stojkovic; A. Behin; B. Eymard; C. Wary; P.G. Carlier;P. Laforet

P.17.19
Deoxypyrimidine monophosphates treatment for thymidine kinase 2 deficiency
C. Garone; B. Garcia-Diaz; V. Emmanuele; S. Tadesse; H.O. Akman; K. Tanji; C.M. Quinzii;M. Hirano

Myotonic Dystrophies; Poster 18 (P.18.1–12)

P.18.1
The DM-Scope registry: Interfacing myotonic dystrophy clinical care and research
C. Dogan; D. Hamroun; S. Katsahian; M. Fabbro; M. French DM clinical network;M. Quebec DM clinical network; B. Eymard; J. Puymirat; G. Bassez

P.18.2
A ten-year follow-up study on muscle strength and motor function in children, adolescents and
young adults with myotonic dystrophy

A.K. Kroksmark; A.B. Ekstrom; M.L. Stridh; M. Tulinius

P.18.3
Test-Retest reliability of strength measurements of the long finger flexors (LFF) in patients with
myotonic dystrophy type 1

K. Eichinger; N. Dilek; J. Dekdebrun; W. Martens; C. Heatwole; C.A. Thornton; R.T. Moxley;S. Pandya

P.18.4
Physical activity profile and barriers to physical activity in individuals with myotonic dystrophy
K. Eichinger; J. Dekdebrun; N. Dilek; D. Chen; S. Pandya

P.18.5
The value of short exercise and short exercise with cooling tests in the diagnosis of myotonicdystrophies (DM1 and DM2)
M. Gawel; E. Szmidt-Salkowska; A. Lusakowska; M. Nojszewska; A. Sulek; W. Krysa;M. Rajkiewicz; A. Seroka; A.M. Kaminska

P.18.6
Self-questionnaire is effective for screening of patients with myotonic dystrophy
T. Matsumura; T. Kimura; Y. Kokunai; M. Nakamori; K. Ogata; H. Fujimura;M.P. Takahashi; H. Mochizuki; S. Sakoda

P.18.7
Endocrine function in patients with myotonic dystrophy type 1 – 9 year follow-up
J.R. Dahlqvist; M.C. Oerngreen; N. Witting; J. Vissing

P.18.8
Day profile of plasma glucose in diabetic-complicated myotonic dystrophy type 1
H. Takada; T. Goto; S. Kon; Y. Oyama

P.18.9
Pain in patients with myotonic dystrophy: comparison between type 1 and type 2
S. Vohanka; O. Parmova; J. Strenkova

P.18.10
A qualitative approach to exploring myotonic dystrophy type 1: truths and misinformation
A.A. Ghavanini; K.L. LaDonna; S.L. Venance

P.18.11
Nerve conduction alterations in Mexican patients with myotonic dystrophy type 1
M.E. Kaji; K.E. Jimenez; R.E. Escobar; S.R. Leon; J.J. Magana; O. Hernandez

P.18.12
Histological and magnetic resonance imaging findings of vastus lateralis in Myotonic Dystrophies:
Do they match up?

C.J. Merkel; M.P. Wattjes; J. Reimann; C. Kornblum


Muscle homeotasis, regeneration and miscellaneous; Poster 19 (P.19.1–9)

P.19.1
Sarcoplasmic reticulum alterations cause part of anti-dysferlin reactivity changes in neurogenic
damage

J. Reimann; K. Kappes-Horn

P.19.2
Targeting the Huntingtin gene with splice-switching AOs: An unusual result
L. Barrett; S. Fletcher; S. Wilton

P.19.3
Phenotypic characterization of the autosomal recessive (Pink-1 and DJ-1) gene knockout rat
models of Parkinson’s disease

S. Ramboz; S. De Silva; R. Stevenson; M. Osborne; M. Willms; A. Kudwa; C. Cirillo;R. Mushlin; M. Olsen; S. Bent; A. Ghavami; T. Sherer; M. Frasier; K.D. Dave

P.19.4
PDGF-BB is expressed by muscle fibers in myopathies and regulates growth and migration
of satellite cells and pericytes

J. Dıaz-Manera; E. Gallardo; N. De Luna; A. Pastoret; M. Navas; I. Illa

P.19.5
Development of an alphascreen-based substrate ubiquitination assay to identify inhibitors of the
muscle ubiquitin ligase MuRF1

C. Swearingen; J. Dixon; Y. Xu; K. Thirunavukkarasu

P.19.6
PIK3CA somatic mutation in congenital monomelic muscular hypertrophy of the upper extremity.
Case report

C. Castiglioni; P. Orellana; F. Las Heras; D. Hinzpeter; P. Paolinelli; J.A. Bevilacqua; E. Bertini;K. Alvarez

P.19.7
Muscle wasting and repair after injury can be potentially modulated by autologous growth factors
combined with a TGF-b antagonist

R. Kelc; M. Trapecar; M. Vogrin

P.19.8
The effect of water-soluble fullerene with different number of hydroxyl groups in muscle
regeneration process of experimental murine skeletal muscle

A. Ishii; N. Ohkoshi; M. Yoshida; A. Tamaoka

P.19.9
Gai2 signaling is required for skeletal muscle regeneration and for satellite cell differentiation
G.C. Minetti; J.N. Feige; F. Bombard; L. Birnbaumer; D.J. Glass; M. Fornaro

Dystrophinopathy: immunity, fibrosis and gene therapy; Poster 20 (P.20.1–15)

P.20.1
Optimised dystrophin mini-constructs for gene delivery
M. Reza; S.H. Laval; J. Counsell; F. Muntoni; J. Morgan; H. Lochmuller

P.20.2
Restoration of dystrophin expression after skipping of single and double exon DMD duplications in
patient-derived cell lines using antisense oligonucleotide and AAV-U7snRNA approaches

A. Vulin; N. Wein; A.R. Findlay; S.D. Wilton; K.M. Flanigan

P.20.3
Targeting fibrosis and inflammation in Duchenne Muscular Dystrophy
C. Preusse; H.H. Goebel; A. von Moers; F.L. Heppner; W. Stenzel

P.20.4
Antithetic role of miR-21 and miR-29 in the progression of fibrosis in Duchenne muscular dystrophy
S. Zanotti; S. Gibertini; P. Savadori; M. Curcio; R. Mantegazza; L. Morandi; M. Mora


P.20.5
Muscle regeneration modification by mesenchymal cells: A novel cell therapy for muscular
degeneration

Y. Maeda; A. Koga; M. Ishizaki; H. Hidaka; Y. Ando

P.20.6
Muscle physiology properties of mouse models for Duchenne muscular dystrophy
M. van Putten; R. Terry; M. Hulsker; K.E. Wells; A. Aartsma-Rus; D.J. Wells

P.20.7
Longitudinal neuromuscular responses in mdx mice challenged with or without addition of forced
exercise

A.E. Kudwa; Y. Jimenez; D. Gomez; A. Sanchez; R. Stevenson; B. Alosio; R. Mushlin;K.N. Cirillo; S. Ramboz

P.20.8
AAV genome loss from dystrophic mouse muscles during AAV-U7snRNA-mediated exon skipping
therapy

M. Le Hir; A. Goyenvalle; C. Peccate; G. Precigout; K.E. Davies; T. Voit; L. Garcia; S. Lorain

P.20.9
Muscle fibrosis in the sgcb-null mouse model versus the mdx model
S. Gibertini; S. Zanotti; M. Curcio; P. Savadori; M. Mora

P.20.10
Human adipose mesenchymal stem-cells injections in golden retriever muscular dystrophy (GRMD)
dogs: a four-year follow-up

M. Zatz; N. Vieira; M. Secco; E. Zucconi; M. Valadares; C.R. Bueno; M. Vainzof; J. Gomes;V. Landini; T. Andrade

P.20.11
Dystrophin rescue needed to recover a correct location of nNOS and the return to a normalized
RyR1 status in treated GRMD dogs

C. Gentil; C. le Guiner; Y. Cherel; M. Montus; P. Moulier; L. Servais; T. Voit; F. Pietri-Rouxel

P.20.12
Gene therapy of Duchenne Muscular Dystrophy using rAAV vectors : Patterns of dystrophin
expression and histological improvements

Y. Cherel; C. Le Guiner; L. Guigand; M. Dutilleul; T. Larcher; H. Goubin; B. Fraysse;J.Y. Deschamps; M. Montus; L. Servais; T. Voit; P. Moullier

P.20.13
Gene therapy of Duchenne Muscular Dystrophy using rAAV vectors: Exon skipping and
microdystrophin approaches in GRMD dogs

C. Le Guiner; M. Montus; L. Servais; Y. Cherel; J.Y. Hogrel; P. Carlier; C. Masurier; O. Adjali;F. Mavilio; G. Dickson; P. Moullier; T. Voit; AFM-Duchenne Consortium

P.20.14
Non ambulant patients with deletion treatable by exon skipping 53 present a more severe phenotype
than the general Duchenne population

L. Servais; A. Seferian; R. Ben Yahou; F. Leturcq; K. Zehrouni; M. Benali; V. Decostre;V. Delahais; N. Butoianu; J.M. Cuisset; C. Cances; A.G. Le Moing; V. Laugel; A. Klein;P. Sabouraud; C. Le Guiner; P. Moullier; A. Moraux; J.Y. Hogrel; M. Montus; T. Voit

P.20.15
Assessing T cell-mediated immune response to dystrophin in the natural history of Duchenne
Muscular Dystrophy

K. Anthony; V. Ricotti; M. Guglieri; L. Servais; T. Voit; K. Bushby; V. Straub; J. Morgan;F. Muntoni

Immune Myopathies II; Poster 21 (P.21.1–11)

P.21.1
Autophagy as a link between immunity and inflammation in idiopathic inflammatory myopathies
C. Cappelletti; G.N.A. Vattemi; P. Tonin; F. Salerno; D. Kapetis; L. Maggi; P. Confalonieri;L. Morandi; M. Mora; G. Tomelleri; R. Mantegazza; P. Bernasconi


P.21.2
New insights into eosinophilic fasciitis
D. Pehl; C. Preusse; J.L. Rinnenthal; U. Schneider; H.H. Goebel; F.L. Heppner; R. Alten;W. Stenzel

P.21.3
Skeletal muscle provides a permissive environment for Th2-M2 polarisation in neuromuscularsarcoidosis
C. Preusse; H.H. Goebel; D. Pehl; A. Doeser; R.A. Kley; M. Vorgerd; F.L. Heppner; W. Stenzel

P.21.4
Combining MRI and muscle biopsy improves diagnostic accuracy in subacute-onset idiopathic
inflammatory myopathy

M. de Visser; J. van de Vlekkert; M. Maas; J.E. Hoogendijk; I.N. van Schaik

P.21.5
Progress report on the development of new classification criteria for adult and juvenile idiopathic
inflammatory myopathies

I.E. Lundberg; A. Tjarnlund; M. Bottai; L.G. Rider; V.P. Werth; C. Pilkington; M. de Visser; L.Alfredsson; A.A. Amato; R.J. Barohn; M.H. Liang; J.A. Singh; F.W. Miller

P.21.6
A case of familial Rippling muscle disease showing decreased of caveolin-3 in muscle biopsy
suggesting an immunologic rippling mechanism

H. Arahata; H. Furuya; M. Kinoshita; N. Fujii

P.21.7
Rippling muscle disease associated with myasthenia gravis: A case report
A. Lusakowska; M. Gawel; A.M. Kaminska

P.21.8
Long-term follow up of a cohort of 62 newly diagnosed patients with a subacute-onset idiopathic
inflammatory myopathy

M. de Visser; J. van de Vlekkert; J.E. Hoogendijk

P.21.9
Responsiveness of muscle testing and functions in a retrospective 51 inflammatory myopathies
patient series

H. Devilliers; N. Shewaro; Y. Allenbach; A. Rigolet; O. Benveniste

P.21.10
Withdrawn
P.21.11
Muscle weakness and atrophy as initial symptoms of acquired immunodeficiency syndrome (AIDS):
A case report

H. Keyou; H. Jing; S. Hongrui

19:00–21:30
Sarepta Industry Symposium – Merrill Hall
Friday 4 October 2013

08:30–10:00
Advances in Therapy for Neuromuscular Diseases; Invited lectures(T.I.1–3) – Merrill Hall
Chairpersons: N. Goemans and F. Muntoni

T.I.1
Targeted therapies for myotonic dystrophy
C. Thornton

T.I.2
Exon skipping and PRO044 in Duchenne muscular dystrophy: extending the program
A. Ferlini; N. Goemans; M. Tulinius; E.H. Niks; S. Dorricott; A. Morgan; A. Lourbakos;S. de Kimpe; R. Wilson; A. Armaroli; J. van Deutekom; G. Campion


T.I.3
Perspectives on microdystrophins and delivery
G. Dickson; C. Le Guiner; M. Montus; L. Servais; Y. Cherel; J.Y. Hogrel; P. Carlier;C. Masurier; O. Adjali; T. Athanasopoulos; T. Koo; A. Malerba; F. Mavilio; T. Voit;P. Moullier

10:00–10:30
10:30–11:00
Advances in Therapy for Neuromuscular Diseases; Invited lecture (T.I.4) – MerrillHall
Chairpersons: N. Goemans and F. Muntoni

T.I.4
Cell therapy and muscular dystrophy
G. Butler-Browne

11:00–12:15
Treatment Approaches for Muscular Dystrophy; Oral Presentations(O.11–15) – Merrill Hall
Chairpersons: I. Nishino and D. Selcen

O.11
Personalized therapy in Duchenne muscular dystrophy: An integrated approach
G. Campion; T. Voit; A.A. Levin; E. Vroom; P. Furlong; A. Morgan; S. de Kimpe; R. Holslag;L. Bell

O.12
Peptide-enhanced uptake and bioactivity of antisense oligonucleotides in muscle and heart of DMDand DM1 mouse models
B. Aguilera; S.A.M. Mulders; C. Tanganyika-de Winter; W.J.A. van den Broek; D. Muilwijk;H. Heemskerk; S.M.G. Sirka; P.C. de Visser; D.G. Wansink; A. Aartsma-Rus; J.C.T. vanDeutekom

O.13
Using out-of-frame exon skipping to induce IRES-driven expression of an N-truncated dystrophin
isoform for 50 DMD mutations

N. Wein; A. Vulin; M.S. Falzarano; A. Szigyarto; A. Findlay; G. Vattemi; D. Perrone;F. Gualandi; M.T. Howard; K.M. Flanigan

O.14
Optimization and evaluation of new read-through compounds (RTCs) for the treatment of
Duchenne Muscular Dystrophy (DMD)

T. Gintjee; R. Kayali; A. Magh; C. Bertoni

O.15
Engineering a Wnt7a-based protein therapeutic for the treatment of muscular dystrophy
P. Parone; M. Bennett; T. Lee; K. Lai; M. Fitch; C. Lynch; M. Rudniki; P. Flynn

12:15–12:30
Classification of Immune-mediated Necrotizing Myopathies; Oral Presentations(O.16) – Merrill Hall
Chairpersons: I. Nishino and D. Selcen

O.16
Morphological and molecular heterogeneity in autoimmune necrotizing myopathies
W. Stenzel; C. Preusse; D. Pehl; F.L. Heppner; J. Weis; K. Claes; E. Rushing; V. Kana;O. Benveniste; H.H. Goebel

12:30–14:00
19:30–23:00
Gala Dinner and Dance - Crocker Hall and Merrill Hall


Saturday 5 October 2013

08:30–09:00
Next Generation Sequencing Approaches for Muscle Disease; Oral Presentations(O.17–18) – Merrill Hall
Chairpersons: C. Bonnemann and M. Spencer

O.17
Mutation spectrum of limb-girdle muscular dystrophies by New Generation Sequencing approaches
M. Savarese; A. Torella; T. Giugliano; F. del Vecchio Blanco; G. di Fruscio; M. Dionisi;M. Iacomino; A. Garofalo; G. Piluso; I. Italian LGMD Network; V. Nigro

O.18
Systematic identification of causal mutations in Mendelian disorders using exome sequence data
M. Lek; N.F. Clarke; L. Waddell; B. Thomas; M. DePristo; M.J. Daly; K.N. North;D.G. MacArthur

09:00–09:30
Developmental Control of Muscle Growth and Maintenance; Oral Presentations(O.19–20) – Merrill Hall
Chairpersons: C. Bonneman and M. Spencer

O.19
Specification of muscle stem cells : A genome-wide screen to identify new regulators of skeletal
muscle satellite cell renewal

F. Relaix

O.20
BMP signalling controls muscle mass
H. Amthor; R. Sartori; E. Schirwis; B. Blaauw; S. Bortolanza; J. Zhao; E. Enzo; A. Stantzou;E. Mouisel; L. Toniolo; A. Ferry; S. Stricker; A.L. Goldberg; S. Dupont; S. Piccolo; M. Sandri

09:30–10:30
New Neuromuscular Diseases; Oral Presentations (O.21–24) – Merrill Hall
Chairpersons: A. Oldfors and H. Topaloglu

O.21
Congenital Myasthenic Syndrome (CMS), autophagic myopathy, and cognitive dysfunction caused
by mutations in DPAGT1

D. Selcen; X.M. Shen; Y. Li; E.D. Wieben; A.G. Engel

O.22
Autosomal dominant Core Congenital Myopathy caused by a mutation in the MYH7 gene
N.B. Romero; T. Xie; E. Malfatti; U. Schaeffer; M. Fardeau; J. Laporte

O.23
A novel desmin mutation causes autosomal recessive limb girdle muscular dystrophy without
features of myofibrillar myopathy

N. Cetin; B. Balci-Hayta; H. Gundesli; P. Korkusuz; N. Purali; B. Talim; E. Tan; D. Selcen;S. Erdem-Ozdamar; P. Dincer

O.24
Loss of function of MGME1, a novel player in mitochondrial DNA replication, causes a distinct
autosomal recessive mitochondrial disorder

C. Kornblum; T. Nicholls; T.B. Haack; S. Schoeler; V. Peeva; K. Danhauser; K. Hallmann;G. Zsurka; J. Rorbach; A. Iuso; T. Wieland; M. Sciacco; D. Ronchi; G.P. Comi; M. Moggio;C.M. Quinzii; S. DiMauro; S.E. Calvo; V.K. Mootha; T. Klopstock; T.M. Strom; T. Meitinger;M. Minczuk; W.S. Kunz; H. Prokisch

10:30–11:00
11:00–12:30
Poster Highlights
Chairpersons: B. Talim and V. Straub


12:30–13:30
WMS General Assembly – Merrill Hall
3:30–14:30
14:30–16:00
Late Breaking News – Merrill Hall
Chairpersons: N. Romero and P. Van den Bergh

16:00
Prize giving and welcome to the 19th WMS Congress, Berlin, Germany – MerrillHall
Handover of the WMS flag and closing of the Congress

18th wms congress – 2013 – program

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