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 (81-90 of 151) with videos related to

Pageof 16
Sort By:
Human Molecular Genetics|November 20, 2010
Enhanced excitation-coupled Ca(2+) entry induces nuclear translocation of NFAT and contributes to IL-6 release from myotubes from patients with central core diseaseSusan Treves, Mirko Vukcevic, Pierre-Yves Jeannet, et al.
Human Mutation|August 19, 2006
Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathyVilma-Lotta Lehtokari, Katarina Pelin, Maria Sandbacka, et al.
Journal of Neurology|February 9, 2017
Predictors of Health-Related Quality of Life in boys with Duchenne muscular dystrophy from six European countriesChristiane Otto, Birgit F Steffensen, Ann-Lisbeth Højberg, et al.
Human Mutation|December 24, 2002
Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadricepsIris Eisenberg, Gil Grabov-Nardini, Hagit Hochner, et al.
Orphanet Journal of Rare Diseases|April 24, 2015
The TREAT-NMD advisory committee for therapeutics (TACT): an innovative de-risking model to foster orphan drug developmentEmma Heslop, Cristina Csimma, Volker Straub, et al.
Neuromuscular Disorders : NMD|May 23, 2013
Muscular dystrophy with large mitochondria associated with mutations in the CHKB gene in three British patients: extending the clinical and pathological phenotypeRos Quinlivan, Satomi Mitsuahashi, Caroline Sewry, et al.
Clinical Rehabilitation|November 19, 2013
A multicentre postal survey investigating the contribution of illness perceptions, coping and optimism to quality of life and mood in adults with muscle diseaseChristopher D Graham, John Weinman, Reza Sadjadi, et al.
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|December 23, 2006
AHNAK, a novel component of the dysferlin protein complex, redistributes to the cytoplasm with dysferlin during skeletal muscle regenerationYanchao Huang, Steven H Laval, Alexandra van Remoortere, et al.
Orphanet Journal of Rare Diseases|September 8, 2017
Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular DystrophyElizabeth Harris, Ana Topf, Rita Barresi, et al.
BMJ Open|December 22, 2018
Randomised placebo-controlled trial of combination ACE inhibitor and beta-blocker therapy to prevent cardiomyopathy in children with Duchenne muscular dystrophy? (DMD Heart Protection Study): a protocol studyJohn P Bourke, Gillian Watson, Francesco Muntoni, et al.
Pageof 16

Showing results (81-90 of 151) with videos related to

Sort By:
Pageof 16
Human Molecular Genetics|November 20, 2010
Enhanced excitation-coupled Ca(2+) entry induces nuclear translocation of NFAT and contributes to IL-6 release from myotubes from patients with central core diseaseSusan Treves, Mirko Vukcevic, Pierre-Yves Jeannet, et al.
Human Mutation|August 19, 2006
Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathyVilma-Lotta Lehtokari, Katarina Pelin, Maria Sandbacka, et al.
Journal of Neurology|February 9, 2017
Predictors of Health-Related Quality of Life in boys with Duchenne muscular dystrophy from six European countriesChristiane Otto, Birgit F Steffensen, Ann-Lisbeth Højberg, et al.
Human Mutation|December 24, 2002
Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadricepsIris Eisenberg, Gil Grabov-Nardini, Hagit Hochner, et al.
Orphanet Journal of Rare Diseases|April 24, 2015
The TREAT-NMD advisory committee for therapeutics (TACT): an innovative de-risking model to foster orphan drug developmentEmma Heslop, Cristina Csimma, Volker Straub, et al.
Neuromuscular Disorders : NMD|May 23, 2013
Muscular dystrophy with large mitochondria associated with mutations in the CHKB gene in three British patients: extending the clinical and pathological phenotypeRos Quinlivan, Satomi Mitsuahashi, Caroline Sewry, et al.
Clinical Rehabilitation|November 19, 2013
A multicentre postal survey investigating the contribution of illness perceptions, coping and optimism to quality of life and mood in adults with muscle diseaseChristopher D Graham, John Weinman, Reza Sadjadi, et al.
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|December 23, 2006
AHNAK, a novel component of the dysferlin protein complex, redistributes to the cytoplasm with dysferlin during skeletal muscle regenerationYanchao Huang, Steven H Laval, Alexandra van Remoortere, et al.
Orphanet Journal of Rare Diseases|September 8, 2017
Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular DystrophyElizabeth Harris, Ana Topf, Rita Barresi, et al.
BMJ Open|December 22, 2018
Randomised placebo-controlled trial of combination ACE inhibitor and beta-blocker therapy to prevent cardiomyopathy in children with Duchenne muscular dystrophy? (DMD Heart Protection Study): a protocol studyJohn P Bourke, Gillian Watson, Francesco Muntoni, et al.
Pageof 16