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Richard Charlton

Showing results (11-20 of 21) with videos related to

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Human Molecular Genetics|March 17, 2009
Attenuated muscle regeneration is a key factor in dysferlin-deficient muscular dystrophyYen-Hui Chiu, Mark A Hornsey, Lars Klinge, et al.
Neuromuscular Disorders : NMD|June 28, 2008
Caveolinopathy--new mutations and additional symptomsAhmed Aboumousa, Jessica Hoogendijk, Richard Charlton, et al.
BMC Public Health|July 31, 2014
Factors associated with low fitness in adolescents--a mixed methods studyRichard Charlton, Michael B Gravenor, Anwen Rees, 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.
Neuromuscular Disorders : NMD|November 13, 2017
MEGF10 related myopathies: A new case with adult onset disease with prominent respiratory failure and review of reported phenotypesElizabeth Harris, Chiara Marini-Bettolo, Ana Töpf, et al.
Acta Neuropathologica|April 12, 2013
Recessive desmin-null muscular dystrophy with central nuclei and mitochondrial abnormalitiesMatthew Henderson, Liesbeth De Waele, Judith Hudson, et al.
Acta Neuropathologica|October 20, 2022
Loss of function variants in DNAJB4 cause a myopathy with early respiratory failureConrad C Weihl, Ana Töpf, Rocio Bengoechea, et al.
Brain : a Journal of Neurology|November 7, 2016
Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportionNasim Vasli, Elizabeth Harris, Jason Karamchandani, et al.
Brain : a Journal of Neurology|April 1, 2021
INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDHDenisa Hathazi, Dan Cox, Adele D'Amico, et al.
Pageof 3

Showing results (11-20 of 21) with videos related to

Sort By:
Pageof 3
Human Molecular Genetics|March 17, 2009
Attenuated muscle regeneration is a key factor in dysferlin-deficient muscular dystrophyYen-Hui Chiu, Mark A Hornsey, Lars Klinge, et al.
Neuromuscular Disorders : NMD|June 28, 2008
Caveolinopathy--new mutations and additional symptomsAhmed Aboumousa, Jessica Hoogendijk, Richard Charlton, et al.
BMC Public Health|July 31, 2014
Factors associated with low fitness in adolescents--a mixed methods studyRichard Charlton, Michael B Gravenor, Anwen Rees, 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.
Neuromuscular Disorders : NMD|November 13, 2017
MEGF10 related myopathies: A new case with adult onset disease with prominent respiratory failure and review of reported phenotypesElizabeth Harris, Chiara Marini-Bettolo, Ana Töpf, et al.
Acta Neuropathologica|April 12, 2013
Recessive desmin-null muscular dystrophy with central nuclei and mitochondrial abnormalitiesMatthew Henderson, Liesbeth De Waele, Judith Hudson, et al.
Acta Neuropathologica|October 20, 2022
Loss of function variants in DNAJB4 cause a myopathy with early respiratory failureConrad C Weihl, Ana Töpf, Rocio Bengoechea, et al.
Brain : a Journal of Neurology|November 7, 2016
Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportionNasim Vasli, Elizabeth Harris, Jason Karamchandani, et al.
Brain : a Journal of Neurology|April 1, 2021
INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDHDenisa Hathazi, Dan Cox, Adele D'Amico, et al.
Pageof 3