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braz j otorhinolaryngol. 2017832:235---238 www.bjorl.org brazilian journal of otorhinolaryngology case report oculopharyngeal muscular dystrophy or oculopharyngeal distal…
hal id: hal-00562732 https:hal.archives-ouvertes.frhal-00562732 submitted on 4 feb 2011 hal is a multi-disciplinary open access archive for the deposit and dissemination…
gene therapy for oculopharyngeal muscular dystrophy alberto malerba world muscle society annual conference 06-10-2017 opmd: oculopharyngeal muscular dystrophy - autosomal…
© 2001 oxford university press human molecular genetics, 2001, vol. 10, no. 11 1129–1139 the product of an oculopharyngeal muscular dystrophy gene, poly(a)-binding protein…
braz j otorhinolaryngol 2017832:235---238 wwwbjorlorg brazilian journal of otorhinolaryngology relato de caso oculopharyngeal muscular dystrophy or oculopharyngeal distal…
slide 1 modeling childhood-onset myotonic dystrophy jordan gladman ph.d. prpr 9/24/2012 myotonic dystrophy type 1 autosomal dominant 1 in 8000 - most common adult muscular…
1 in focus: oculopharyngeal muscular dystrophy ©2009 mda oculopharyngeal muscular dystrophy opmd is a form of muscular dystrophy that results from a mutation in the pabpn1…
la dystrophie musculaire oculopharyngée > dmop > oculo-pharyngeal muscular dystrophy la dystrophie musculaire oculopharyngée est une myopathie qui touche essentiellement…
1scientific reports 7: 9146 doi:101038s41598-017-09629-9 wwwnaturecomscientificreports adult-onset vitelliform macular dystrophy caused by best1 pile38ser mutation is a mild…
slide 1 muscular dystrophy omid yaghini slide 2 congenital muscular dystrophy presentation: neonatal onset of severe weakness, delayed motor milestones, contractures presentation:…
attention french-canadian descendants: did you inherit oculopharyngeal muscular dystrophy? difficulty swallowing? droopy eyelids? outline descendant report for anne aymard…
copyright © benitec biopharma ltd www.benitec.com 1 benitec biopharma overview april 2020 copyright © benitec biopharma inc copyright © benitec biopharma ltd www.benitec.com…
british journal of ophthalmology, 1987, 71, 290-294 treatment of ptosis in chronic progressive external ophthalmoplegia carol m lane and j r 0 collin from moorfields eye…
towards development of a ‘silence and replace’ based approach for the treatment of oculopharyngeal muscular dystrophy vanessa strings‐ufombah research scientist…
slide 1modeling childhood-onset myotonic dystrophy jordan gladman ph.d. prpr 9/24/2012 slide 2 myotonic dystrophy type 1 autosomal dominant 1 in 8000 - most common…
action plan for the muscular dystrophies department of health and human services muscular dystrophy coordinating committee action plan for the muscular dystrophies plan developed…
an 81-year-old man from a family with a history of oculopharyngeal mus- cular dystrophy (opmd) involving 6 members over 4 generations is de- scribed. the patient first noted
product manual myotonic dystrophy gldm pcrprober™ kit non-radioactive myotonic dystrophy genotyping by pcr* analysis ctg repeat detection kit for amplification and non-radioactive…
summary • myotonic dystrophy (dm) is the most common adult-onset muscular dystrophy. type 1 is caused by an expansion of ctg in dmpk while type 2 is caused by an expansion…
dysphagia and opmd: more than an oculopharyngeal problem? 11/12/2011 leslie price & martin kistin university of new mexico department of gastroenterology overview background…