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Menachem Sadeh

Showing results (51-60 of 69) with videos related to

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Neuromuscular Disorders : NMD|October 26, 2002
Molecular genetic study of myophosphorylase deficiency (McArdle's disease) in two Yemenite-Jewish familiesGeorgios M Hadjigeorgiou, Menachem Sadeh, Olimpia Musumeci, et al.
Molecular Genetics and Metabolism|May 22, 2012
McArdle disease: a novel mutation in Jewish families from the Caucasus regionYishai Haimi Cohen, Nechama Shalva, Tal Markus-Eidlitz, et al.
Journal of Receptor and Signal Transduction Research|December 17, 2014
Survival-apoptosis associated signaling in GNE myopathy-cultured myoblastsAvi Harazi, Malka Chaouat, Zippora Shlomai, et al.
European Neurology|March 9, 2005
Extended phenotype in the transthyretin Tyr77 familial amyloid polyneuropathyAlexander Lossos, Dov Soffer, Bettina Steiner-Birmanns, et al.
Amyotrophic Lateral Sclerosis : Official Publication of the World Federation of Neurology Research Group on Motor Neuron Diseases|May 5, 2009
Mutational analysis of glycyl-tRNA synthetase (GARS) gene in Hirayama diseaseSergiu C Blumen, Vivian E Drory, Menachem Sadeh, et al.
Neurogenetics|April 3, 2021
Multi-system neurological disorder associated with a CRYAB variantMenachem Sadeh, Dolev Rahat, Vardiella Meiner, et al.
BMC Medical Genetics|August 14, 2016
Two novel MYH7 proline substitutions cause Laing Distal Myopathy-like phenotypes with variable expressivity and neck extensor contractureMiora Feinstein-Linial, Massimo Buvoli, Ada Buvoli, et al.
Human Molecular Genetics|August 30, 2008
Mitochondrial processes are impaired in hereditary inclusion body myopathyIris Eisenberg, Noa Novershtern, Zohar Itzhaki, et al.
FEBS Letters|May 19, 2004
The homozygous M712T mutation of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase results in reduced enzyme activities but not in altered overall cellular sialylation in hereditary inclusion body myopathyStephan Hinderlich, Ilan Salama, Iris Eisenberg, et al.
Acta Neuropathologica|August 4, 2016
Kyphoscoliosis peptidase (KY) mutation causes a novel congenital myopathy with core targetoid defectsRachel Straussberg, Gudrun Schottmann, Menachem Sadeh, et al.
Pageof 7

Showing results (51-60 of 69) with videos related to

Sort By:
Pageof 7
Neuromuscular Disorders : NMD|October 26, 2002
Molecular genetic study of myophosphorylase deficiency (McArdle's disease) in two Yemenite-Jewish familiesGeorgios M Hadjigeorgiou, Menachem Sadeh, Olimpia Musumeci, et al.
Molecular Genetics and Metabolism|May 22, 2012
McArdle disease: a novel mutation in Jewish families from the Caucasus regionYishai Haimi Cohen, Nechama Shalva, Tal Markus-Eidlitz, et al.
Journal of Receptor and Signal Transduction Research|December 17, 2014
Survival-apoptosis associated signaling in GNE myopathy-cultured myoblastsAvi Harazi, Malka Chaouat, Zippora Shlomai, et al.
European Neurology|March 9, 2005
Extended phenotype in the transthyretin Tyr77 familial amyloid polyneuropathyAlexander Lossos, Dov Soffer, Bettina Steiner-Birmanns, et al.
Amyotrophic Lateral Sclerosis : Official Publication of the World Federation of Neurology Research Group on Motor Neuron Diseases|May 5, 2009
Mutational analysis of glycyl-tRNA synthetase (GARS) gene in Hirayama diseaseSergiu C Blumen, Vivian E Drory, Menachem Sadeh, et al.
Neurogenetics|April 3, 2021
Multi-system neurological disorder associated with a CRYAB variantMenachem Sadeh, Dolev Rahat, Vardiella Meiner, et al.
BMC Medical Genetics|August 14, 2016
Two novel MYH7 proline substitutions cause Laing Distal Myopathy-like phenotypes with variable expressivity and neck extensor contractureMiora Feinstein-Linial, Massimo Buvoli, Ada Buvoli, et al.
Human Molecular Genetics|August 30, 2008
Mitochondrial processes are impaired in hereditary inclusion body myopathyIris Eisenberg, Noa Novershtern, Zohar Itzhaki, et al.
FEBS Letters|May 19, 2004
The homozygous M712T mutation of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase results in reduced enzyme activities but not in altered overall cellular sialylation in hereditary inclusion body myopathyStephan Hinderlich, Ilan Salama, Iris Eisenberg, et al.
Acta Neuropathologica|August 4, 2016
Kyphoscoliosis peptidase (KY) mutation causes a novel congenital myopathy with core targetoid defectsRachel Straussberg, Gudrun Schottmann, Menachem Sadeh, et al.
Pageof 7