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Ruben Attali

Showing results (1-10 of 10) with videos related to

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Neuromuscular Disorders : NMD|September 4, 2023
GNE myopathy: can homozygous asymptomatic subjects give a clue for the identification of protective factors?Stella Mitrani-Rosenbaum, Ruben Attali, Zohar Argov
Advances in Experimental Medicine and Biology|March 13, 2010
Spinal muscular atrophyJérémie Vitte, Ruben Attali, Nasim Warwar, et al.
Human Molecular Genetics|June 23, 2009
Mutation of SYNE-1, encoding an essential component of the nuclear lamina, is responsible for autosomal recessive arthrogryposisRuben Attali, Nasim Warwar, Ariel Israel, et al.
Plos One|July 30, 2013
Variable myopathic presentation in a single family with novel skeletal RYR1 mutationRuben Attali, Sharon Aharoni, Susan Treves, et al.
Plos One|May 30, 2008
Early neurodegeneration progresses independently of microglial activation by heparan sulfate in the brain of mucopolysaccharidosis IIIB miceJérôme Ausseil, Nathalie Desmaris, Stéphanie Bigou, et al.
Molecular Genetics and Metabolism|April 1, 2022
Functional analysis of a novel de novo variant in PPP5C associated with microcephaly, seizures, and developmental delaySara M Fielder, Jill A Rosenfeld, Lindsay C Burrage, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 20, 2023
Evaluation of an automated genome interpretation model for rare disease routinely used in a clinical genetic laboratoryLinyan Meng, Ruben Attali, Tomer Talmy, et al.
Human Molecular Genetics|May 29, 2015
Epigenetic changes as a common trigger of muscle weakness in congenital myopathiesOri Rokach, Marijana Sekulic-Jablanovic, Nicol Voermans, et al.
Pediatric Neurology|August 24, 2024
Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental DisorderMaria Carla Borroto, Heena Patel, Siddharth Srivastava, et al.
American Journal of Human Genetics|May 19, 2021
Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulationAlban Ziegler, Rémi Duclaux-Loras, Céline Revenu, et al.
Pageof 1

Showing results (1-10 of 10) with videos related to

Sort By:
Pageof 1
Neuromuscular Disorders : NMD|September 4, 2023
GNE myopathy: can homozygous asymptomatic subjects give a clue for the identification of protective factors?Stella Mitrani-Rosenbaum, Ruben Attali, Zohar Argov
Advances in Experimental Medicine and Biology|March 13, 2010
Spinal muscular atrophyJérémie Vitte, Ruben Attali, Nasim Warwar, et al.
Human Molecular Genetics|June 23, 2009
Mutation of SYNE-1, encoding an essential component of the nuclear lamina, is responsible for autosomal recessive arthrogryposisRuben Attali, Nasim Warwar, Ariel Israel, et al.
Plos One|July 30, 2013
Variable myopathic presentation in a single family with novel skeletal RYR1 mutationRuben Attali, Sharon Aharoni, Susan Treves, et al.
Plos One|May 30, 2008
Early neurodegeneration progresses independently of microglial activation by heparan sulfate in the brain of mucopolysaccharidosis IIIB miceJérôme Ausseil, Nathalie Desmaris, Stéphanie Bigou, et al.
Molecular Genetics and Metabolism|April 1, 2022
Functional analysis of a novel de novo variant in PPP5C associated with microcephaly, seizures, and developmental delaySara M Fielder, Jill A Rosenfeld, Lindsay C Burrage, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 20, 2023
Evaluation of an automated genome interpretation model for rare disease routinely used in a clinical genetic laboratoryLinyan Meng, Ruben Attali, Tomer Talmy, et al.
Human Molecular Genetics|May 29, 2015
Epigenetic changes as a common trigger of muscle weakness in congenital myopathiesOri Rokach, Marijana Sekulic-Jablanovic, Nicol Voermans, et al.
Pediatric Neurology|August 24, 2024
Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental DisorderMaria Carla Borroto, Heena Patel, Siddharth Srivastava, et al.
American Journal of Human Genetics|May 19, 2021
Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulationAlban Ziegler, Rémi Duclaux-Loras, Céline Revenu, et al.
Pageof 1