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Scientific Reports|May 31, 2020
Exercise efficiency impairment in metabolic myopathiesJean-Baptiste Noury, Fabien Zagnoli, François Petit, et al.Muscle & Nerve|February 23, 2017
Rigid spine syndrome associated with sensory-motor axonal neuropathy resembling Charcot-Marie-Tooth disease is characteristic of Bcl-2-associated athanogene-3 gene mutations even without cardiac involvementJean-Baptiste Noury, Thierry Maisonobe, Pascale Richard, et al.Scientific Reports|June 3, 2020
The ratio of maximal handgrip force and maximal cycloergometry power as a diagnostic tool to screen for metabolic myopathiesJean-Baptiste Noury, Fabien Zagnoli, François Petit, et al.Neuromuscular Disorders : NMD|November 24, 2016
Tubular aggregate myopathy with features of Stormorken disease due to a new STIM1 mutationJean-Baptiste Noury, Johann Böhm, Georges Arielle Peche, et al.Research and Practice in Thrombosis and Haemostasis|February 19, 2024
Venous thromboembolism and amyotrophic lateral sclerosis: the Venous Thrombo-Embolism and Sclerosis Lateral Amyotrophic studyAudrey Barnabe, Steeve Genestet, Christophe Gut-Gobert, et al.Human Mutation|August 27, 2019
Tubular aggregate myopathy and Stormorken syndrome: Mutation spectrum and genotype/phenotype correlationGilles Morin, Valérie Biancalana, Andoni Echaniz-Laguna, et al.European Journal of Neurology|June 25, 2026
Managing Pompe Disease and Enzyme Replacement Therapy During Pregnancy: Challenges and ConsiderationsMaudy T M Theunissen, Zohra Hayat, Françoise Bouhour, et al.Journal of Neuropathology and Experimental Neurology|November 27, 2025
Clinical, morphological, and molecular characterization of patients with X-linked myopathy with excessive autophagy (XMEA)Angèle N Merlet, Emmanuelle Lacène, Isabelle Nelson, et al.Journal of the Peripheral Nervous System : JPNS|June 30, 2025
Etiologic Diagnosis of Neuropathies Based on First-Line Screening of TTR Gene MutationsArmelle Magot, Maud Lepetit, Steeve Genestet, et al.European Journal of Neurology|April 8, 2024
Real-life effectiveness 1 year after switching to avalglucosidase alfa in late-onset Pompe disease patients worsening on alglucosidase alfa therapy: A French cohort studyCéline Tard, Françoise Bouhour, Maud Michaud, et al.Pageof 3