Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Kate Bushby

Showing results (61-70 of 151) with videos related to

Pageof 16
Sort By:
Annals of Neurology|October 27, 2004
Cardiac and respiratory failure in limb-girdle muscular dystrophy 2IMaja Poppe, John Bourke, Michelle Eagle, et al.
Muscle & Nerve|March 14, 2013
Corticosteroids in Duchenne muscular dystrophy: major variations in practiceRobert C Griggs, Barbara E Herr, Allen Reha, et al.
Neuromuscular Disorders : NMD|June 28, 2008
Caveolinopathy--new mutations and additional symptomsAhmed Aboumousa, Jessica Hoogendijk, Richard Charlton, et al.
Muscle & Nerve|January 19, 2010
Dysferlin associates with the developing T-tubule system in rodent and human skeletal muscleLars Klinge, John Harris, Caroline Sewry, et al.
European Journal of Human Genetics : EJHG|June 2, 2011
Phenotypic heterogeneity in British patients with a founder mutation in the FHL1 geneAnna Sarkozy, Christian Windpassinger, Judith Hudson, et al.
Archives of Neurology|May 19, 2004
Extreme variability of phenotype in patients with an identical missense mutation in the lamin A/C gene: from congenital onset with severe phenotype to milder classic Emery-Dreifuss variantEugenio Mercuri, Maja Poppe, Ros Quinlivan, et al.
Neuromuscular Disorders : NMD|July 19, 2017
A 'second truncation' in TTN causes early onset recessive muscular dystrophyElizabeth Harris, Ana Töpf, Anna Vihola, et al.
Neuromuscular Disorders : NMD|February 8, 2005
Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contracturesEugenio Mercuri, Kate Bushby, Enzo Ricci, et al.
Neuromuscular Disorders : NMD|September 5, 2015
Novel mutations in DNAJB6 gene cause a very severe early-onset limb-girdle muscular dystrophy 1D diseaseJohanna Palmio, Per Harald Jonson, Anni Evilä, et al.
Neuromuscular Disorders : NMD|July 8, 2010
Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutationZagaa Odgerel, Anna Sarkozy, Hee-Suk Lee, et al.
Pageof 16

Showing results (61-70 of 151) with videos related to

Sort By:
Pageof 16
Annals of Neurology|October 27, 2004
Cardiac and respiratory failure in limb-girdle muscular dystrophy 2IMaja Poppe, John Bourke, Michelle Eagle, et al.
Muscle & Nerve|March 14, 2013
Corticosteroids in Duchenne muscular dystrophy: major variations in practiceRobert C Griggs, Barbara E Herr, Allen Reha, et al.
Neuromuscular Disorders : NMD|June 28, 2008
Caveolinopathy--new mutations and additional symptomsAhmed Aboumousa, Jessica Hoogendijk, Richard Charlton, et al.
Muscle & Nerve|January 19, 2010
Dysferlin associates with the developing T-tubule system in rodent and human skeletal muscleLars Klinge, John Harris, Caroline Sewry, et al.
European Journal of Human Genetics : EJHG|June 2, 2011
Phenotypic heterogeneity in British patients with a founder mutation in the FHL1 geneAnna Sarkozy, Christian Windpassinger, Judith Hudson, et al.
Archives of Neurology|May 19, 2004
Extreme variability of phenotype in patients with an identical missense mutation in the lamin A/C gene: from congenital onset with severe phenotype to milder classic Emery-Dreifuss variantEugenio Mercuri, Maja Poppe, Ros Quinlivan, et al.
Neuromuscular Disorders : NMD|July 19, 2017
A 'second truncation' in TTN causes early onset recessive muscular dystrophyElizabeth Harris, Ana Töpf, Anna Vihola, et al.
Neuromuscular Disorders : NMD|February 8, 2005
Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contracturesEugenio Mercuri, Kate Bushby, Enzo Ricci, et al.
Neuromuscular Disorders : NMD|September 5, 2015
Novel mutations in DNAJB6 gene cause a very severe early-onset limb-girdle muscular dystrophy 1D diseaseJohanna Palmio, Per Harald Jonson, Anni Evilä, et al.
Neuromuscular Disorders : NMD|July 8, 2010
Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutationZagaa Odgerel, Anna Sarkozy, Hee-Suk Lee, et al.
Pageof 16