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Kate Bushby

Showing results (91-100 of 151) with videos related to

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European Journal of Human Genetics : EJHG|April 14, 2005
Protein studies in dysferlinopathy patients using llama-derived antibody fragments selected by phage displayYanchao Huang, Peter Verheesen, Andreas Roussis, et al.
Neuromuscular Disorders : NMD|June 19, 2017
Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domainsElizabeth Harris, Umar Burki, Chiara Marini-Bettolo, et al.
Human Mutation|December 8, 2004
The most common mutation in FKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populationsPatrick Frosk, Cheryl R Greenberg, Alysa A P Tennese, et al.
Annals of Neurology|July 12, 2002
Mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13Louis Viollet, Annie Barois, Jean G Rebeiz, et al.
Neuromuscular Disorders : NMD|December 7, 2010
Infantile onset myofibrillar myopathy due to recessive CRYAB mutationsKatharine M L Forrest, Safa Al-Sarraj, Caroline Sewry, et al.
American Journal of Medical Genetics. Part A|April 7, 2005
SOX2 anophthalmia syndromeNicola K Ragge, Birgit Lorenz, Adele Schneider, et al.
Neuromuscular Disorders : NMD|July 10, 2017
Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year periodMaria Sframeli, Anna Sarkozy, Marta Bertoli, et al.
Plos Currents|January 19, 2013
Guidance in social and ethical issues related to clinical, diagnostic care and novel therapies for hereditary neuromuscular rare diseases: "translating" the translationalPauline McCormack, Simon Woods, Annemieke Aartsma-Rus, et al.
Pediatric Neurology|May 21, 2014
One year outcome of boys with Duchenne muscular dystrophy using the Bayley-III scales of infant and toddler developmentAnne M Connolly, Julaine M Florence, Mary M Cradock, et al.
Human Mutation|June 29, 2010
Recessive mutations in RYR1 are a common cause of congenital fiber type disproportionNigel F Clarke, Leigh B Waddell, Sandra T Cooper, et al.
Pageof 16

Showing results (91-100 of 151) with videos related to

Sort By:
Pageof 16
European Journal of Human Genetics : EJHG|April 14, 2005
Protein studies in dysferlinopathy patients using llama-derived antibody fragments selected by phage displayYanchao Huang, Peter Verheesen, Andreas Roussis, et al.
Neuromuscular Disorders : NMD|June 19, 2017
Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domainsElizabeth Harris, Umar Burki, Chiara Marini-Bettolo, et al.
Human Mutation|December 8, 2004
The most common mutation in FKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populationsPatrick Frosk, Cheryl R Greenberg, Alysa A P Tennese, et al.
Annals of Neurology|July 12, 2002
Mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13Louis Viollet, Annie Barois, Jean G Rebeiz, et al.
Neuromuscular Disorders : NMD|December 7, 2010
Infantile onset myofibrillar myopathy due to recessive CRYAB mutationsKatharine M L Forrest, Safa Al-Sarraj, Caroline Sewry, et al.
American Journal of Medical Genetics. Part A|April 7, 2005
SOX2 anophthalmia syndromeNicola K Ragge, Birgit Lorenz, Adele Schneider, et al.
Neuromuscular Disorders : NMD|July 10, 2017
Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year periodMaria Sframeli, Anna Sarkozy, Marta Bertoli, et al.
Plos Currents|January 19, 2013
Guidance in social and ethical issues related to clinical, diagnostic care and novel therapies for hereditary neuromuscular rare diseases: "translating" the translationalPauline McCormack, Simon Woods, Annemieke Aartsma-Rus, et al.
Pediatric Neurology|May 21, 2014
One year outcome of boys with Duchenne muscular dystrophy using the Bayley-III scales of infant and toddler developmentAnne M Connolly, Julaine M Florence, Mary M Cradock, et al.
Human Mutation|June 29, 2010
Recessive mutations in RYR1 are a common cause of congenital fiber type disproportionNigel F Clarke, Leigh B Waddell, Sandra T Cooper, et al.
Pageof 16