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Kate Bushby

Showing results (101-110 of 151) with videos related to

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Annals of Neurology|December 11, 2008
Brain involvement in muscular dystrophies with defective dystroglycan glycosylationEmma Clement, Eugenio Mercuri, Caroline Godfrey, et al.
Journal of General Internal Medicine|July 18, 2014
RD-Connect: an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease researchRachel Thompson, Louise Johnston, Domenica Taruscio, et al.
Neuromuscular Disorders : NMD|September 18, 2012
Muscle MRI findings in limb girdle muscular dystrophy type 2LAnna Sarkozy, Marcus Deschauer, Robert-Yves Carlier, et al.
Brain : a Journal of Neurology|May 8, 2007
Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathiesHaiyan Zhou, Heinz Jungbluth, Caroline A Sewry, et al.
Brain : a Journal of Neurology|December 28, 2010
A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophyDebbie Hicks, Anna Sarkozy, Nuria Muelas, et al.
Brain : a Journal of Neurology|September 20, 2007
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycanCaroline Godfrey, Emma Clement, Rachael Mein, et al.
Lancet (London, England)|July 26, 2011
Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation studySebahattin Cirak, Virginia Arechavala-Gomeza, Michela Guglieri, et al.
European Journal of Human Genetics : EJHG|December 4, 2008
In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathyAlexey Shatunov, Montse Olivé, Zagaa Odgerel, et al.
Muscle & Nerve|May 4, 2022
Comparison of strength testing modalities in dysferlinopathyNatalie F Reash, Meredith K James, Lindsay N Alfano, et al.
Brain : a Journal of Neurology|July 3, 2015
Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathiesKatsiaryna Belaya, Pedro M Rodríguez Cruz, Wei Wei Liu, et al.
Pageof 16

Showing results (101-110 of 151) with videos related to

Sort By:
Pageof 16
Annals of Neurology|December 11, 2008
Brain involvement in muscular dystrophies with defective dystroglycan glycosylationEmma Clement, Eugenio Mercuri, Caroline Godfrey, et al.
Journal of General Internal Medicine|July 18, 2014
RD-Connect: an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease researchRachel Thompson, Louise Johnston, Domenica Taruscio, et al.
Neuromuscular Disorders : NMD|September 18, 2012
Muscle MRI findings in limb girdle muscular dystrophy type 2LAnna Sarkozy, Marcus Deschauer, Robert-Yves Carlier, et al.
Brain : a Journal of Neurology|May 8, 2007
Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathiesHaiyan Zhou, Heinz Jungbluth, Caroline A Sewry, et al.
Brain : a Journal of Neurology|December 28, 2010
A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophyDebbie Hicks, Anna Sarkozy, Nuria Muelas, et al.
Brain : a Journal of Neurology|September 20, 2007
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycanCaroline Godfrey, Emma Clement, Rachael Mein, et al.
Lancet (London, England)|July 26, 2011
Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation studySebahattin Cirak, Virginia Arechavala-Gomeza, Michela Guglieri, et al.
European Journal of Human Genetics : EJHG|December 4, 2008
In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathyAlexey Shatunov, Montse Olivé, Zagaa Odgerel, et al.
Muscle & Nerve|May 4, 2022
Comparison of strength testing modalities in dysferlinopathyNatalie F Reash, Meredith K James, Lindsay N Alfano, et al.
Brain : a Journal of Neurology|July 3, 2015
Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathiesKatsiaryna Belaya, Pedro M Rodríguez Cruz, Wei Wei Liu, et al.
Pageof 16