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Sandra T Cooper

Showing results (41-50 of 97) with videos related to

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Annals of Neurology|August 21, 2007
Intranuclear rod myopathy: molecular pathogenesis and mechanisms of weaknessAna Domazetovska, Biljana Ilkovski, Vikash Kumar, et al.
European Journal of Human Genetics : EJHG|January 27, 2022
Neonatal-lethal dilated cardiomyopathy due to a homozygous LMOD2 donor splice-site variantMichaela Yuen, Lisa Worgan, Jessika Iwanski, et al.
Cardiovascular Research|January 22, 2016
Lack of MG53 in human heart precludes utility as a biomarker of myocardial injury or endogenous cardioprotective factorFrances A Lemckert, Adam Bournazos, Daniel M Eckert, et al.
European Journal of Human Genetics : EJHG|November 5, 2023
Biallelic ATP2B1 variants as a likely cause of a novel neurodevelopmental malformation syndrome with primary hypoparathyroidismPatrick Yap, Lisa G Riley, Purvi M Kakadia, et al.
Human Molecular Genetics|December 12, 2017
Dietary intervention rescues myopathy associated with neurofibromatosis type 1Matthew A Summers, Thusitha Rupasinghe, Emily R Vasiljevski, et al.
Journal of Cachexia, Sarcopenia and Muscle|June 22, 2019
Mice with myocyte deletion of vitamin D receptor have sarcopenia and impaired muscle functionChristian M Girgis, Kuan Minn Cha, Benjamin So, et al.
American Journal of Human Genetics|November 26, 2008
Mutations in contactin-1, a neural adhesion and neuromuscular junction protein, cause a familial form of lethal congenital myopathyAlison G Compton, Douglas E Albrecht, Jane T Seto, et al.
Neuromuscular Disorders : NMD|August 10, 2022
A genetic basis is identified in 74% cases of paediatric hyperCKaemia without weakness presenting to a tertiary paediatric neuromuscular centreWui-Kwan Wong, Samantha J Bryen, Adam Bournazos, et al.
NPJ Genomic Medicine|November 21, 2017
Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseasesDeborah Schofield, Khurshid Alam, Lyndal Douglas, et al.
Clinical Genetics|February 17, 2023
Compound heterozygous splicing variants expand the genotypic spectrum of EMC1-related disordersSamantha J Bryen, Katharine Zhang, Gregory Dziaduch, et al.
Pageof 10

Showing results (41-50 of 97) with videos related to

Sort By:
Pageof 10
Annals of Neurology|August 21, 2007
Intranuclear rod myopathy: molecular pathogenesis and mechanisms of weaknessAna Domazetovska, Biljana Ilkovski, Vikash Kumar, et al.
European Journal of Human Genetics : EJHG|January 27, 2022
Neonatal-lethal dilated cardiomyopathy due to a homozygous LMOD2 donor splice-site variantMichaela Yuen, Lisa Worgan, Jessika Iwanski, et al.
Cardiovascular Research|January 22, 2016
Lack of MG53 in human heart precludes utility as a biomarker of myocardial injury or endogenous cardioprotective factorFrances A Lemckert, Adam Bournazos, Daniel M Eckert, et al.
European Journal of Human Genetics : EJHG|November 5, 2023
Biallelic ATP2B1 variants as a likely cause of a novel neurodevelopmental malformation syndrome with primary hypoparathyroidismPatrick Yap, Lisa G Riley, Purvi M Kakadia, et al.
Human Molecular Genetics|December 12, 2017
Dietary intervention rescues myopathy associated with neurofibromatosis type 1Matthew A Summers, Thusitha Rupasinghe, Emily R Vasiljevski, et al.
Journal of Cachexia, Sarcopenia and Muscle|June 22, 2019
Mice with myocyte deletion of vitamin D receptor have sarcopenia and impaired muscle functionChristian M Girgis, Kuan Minn Cha, Benjamin So, et al.
American Journal of Human Genetics|November 26, 2008
Mutations in contactin-1, a neural adhesion and neuromuscular junction protein, cause a familial form of lethal congenital myopathyAlison G Compton, Douglas E Albrecht, Jane T Seto, et al.
Neuromuscular Disorders : NMD|August 10, 2022
A genetic basis is identified in 74% cases of paediatric hyperCKaemia without weakness presenting to a tertiary paediatric neuromuscular centreWui-Kwan Wong, Samantha J Bryen, Adam Bournazos, et al.
NPJ Genomic Medicine|November 21, 2017
Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseasesDeborah Schofield, Khurshid Alam, Lyndal Douglas, et al.
Clinical Genetics|February 17, 2023
Compound heterozygous splicing variants expand the genotypic spectrum of EMC1-related disordersSamantha J Bryen, Katharine Zhang, Gregory Dziaduch, et al.
Pageof 10