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Steven A Moore

Showing results (121-130 of 141) with videos related to

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Nature|October 12, 2012
CaMKII determines mitochondrial stress responses in heartMei-Ling A Joiner, Olha M Koval, Jingdong Li, et al.
Journal of Neurology|June 24, 2015
Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1Alleene V Strickland, Maria Schabhüttl, Hans Offenbacher, et al.
Brain : a Journal of Neurology|January 5, 2013
ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophiesSebahattin Cirak, Aileen Reghan Foley, Ralf Herrmann, et al.
Journal of Neuropathology and Experimental Neurology|November 9, 2025
Establishment of normal myofiber size distribution in children and young adultsMichael W Lawlor, Marta Margeta, Karra A Jones, et al.
Neurology|February 5, 2022
Cross-sectional Neuromuscular Phenotyping Study of Patients With Arhinia With <i>SMCHD1</i> VariantsPayam Mohassel, Ning Chang, Kaoru Inoue, et al.
Neurology. Genetics|August 6, 2020
Congenital myasthenic syndrome caused by a frameshift insertion mutation in <i>GFPT1</i>Szabolcs Szelinger, Jonida Krate, Keri Ramsey, et al.
Human Molecular Genetics|October 10, 2013
Recessive TTN truncating mutations define novel forms of core myopathy with heart diseaseClaire Chauveau, Carsten G Bonnemann, Cedric Julien, et al.
Journal of Medical Genetics|June 28, 2019
SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domainRichard J L F Lemmers, Nienke van der Stoep, Patrick J van der Vliet, et al.
Annals of Clinical and Translational Neurology|May 15, 2026
Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN-Digenic MyopathyRotem Orbach, Sandra Donkervoort, Carola Hedberg-Oldfors, et al.
Neurology. Genetics|May 2, 2019
Clinical, genetic, and pathologic characterization of <i>FKRP</i> Mexican founder mutation c.1387A>GAngela J Lee, Karra A Jones, Russell J Butterfield, et al.
Pageof 15

Showing results (121-130 of 141) with videos related to

Sort By:
Pageof 15
Nature|October 12, 2012
CaMKII determines mitochondrial stress responses in heartMei-Ling A Joiner, Olha M Koval, Jingdong Li, et al.
Journal of Neurology|June 24, 2015
Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1Alleene V Strickland, Maria Schabhüttl, Hans Offenbacher, et al.
Brain : a Journal of Neurology|January 5, 2013
ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophiesSebahattin Cirak, Aileen Reghan Foley, Ralf Herrmann, et al.
Journal of Neuropathology and Experimental Neurology|November 9, 2025
Establishment of normal myofiber size distribution in children and young adultsMichael W Lawlor, Marta Margeta, Karra A Jones, et al.
Neurology|February 5, 2022
Cross-sectional Neuromuscular Phenotyping Study of Patients With Arhinia With <i>SMCHD1</i> VariantsPayam Mohassel, Ning Chang, Kaoru Inoue, et al.
Neurology. Genetics|August 6, 2020
Congenital myasthenic syndrome caused by a frameshift insertion mutation in <i>GFPT1</i>Szabolcs Szelinger, Jonida Krate, Keri Ramsey, et al.
Human Molecular Genetics|October 10, 2013
Recessive TTN truncating mutations define novel forms of core myopathy with heart diseaseClaire Chauveau, Carsten G Bonnemann, Cedric Julien, et al.
Journal of Medical Genetics|June 28, 2019
SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domainRichard J L F Lemmers, Nienke van der Stoep, Patrick J van der Vliet, et al.
Annals of Clinical and Translational Neurology|May 15, 2026
Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN-Digenic MyopathyRotem Orbach, Sandra Donkervoort, Carola Hedberg-Oldfors, et al.
Neurology. Genetics|May 2, 2019
Clinical, genetic, and pathologic characterization of <i>FKRP</i> Mexican founder mutation c.1387A>GAngela J Lee, Karra A Jones, Russell J Butterfield, et al.
Pageof 15