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Eclinicalmedicine|February 6, 2024
Rycal S48168 (ARM210) for <i>RYR1</i>-related myopathies: a phase one, open-label, dose-escalation trialJoshua J Todd, Tokunbor A Lawal, Irene C Chrismer, et al.
Acta Neuropathologica|April 3, 2020
Intracellular calcium leak as a therapeutic target for RYR1-related myopathiesAlexander Kushnir, Joshua J Todd, Jessica W Witherspoon, et al.
American Journal of Human Genetics|April 3, 2004
Identification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the Study of Canadian Genetic IsolatesRonald G Lafreniere, Marcia L E MacDonald, Marie-Pierre Dube, et al.
Iucrj|September 8, 2022
Complementarity of neutron, XFEL and synchrotron crystallography for defining the structures of metalloenzymes at room temperatureTadeo Moreno-Chicano, Leiah M Carey, Danny Axford, et al.
Eneurologicalsci|February 13, 2018
Does the survival motor neuron copy number variation play a role in the onset and severity of sporadic amyotrophic lateral sclerosis in Malians?Modibo Sangare, Ilo Dicko, Cheick Oumar Guinto, et al.
Annals of Neurology|May 14, 2020
GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency SyndromeA Reghan Foley, Yaqun Zou, James E Dunford, et al.
Biorxiv : the Preprint Server for Biology|November 28, 2024
Identification and characterization of substrate- and product-selective nylon hydrolasesErin E Drufva, John F Cahill, Patricia M B Saint-Vincent, et al.
Neurology|January 14, 2021
Association of Initial Maximal Motor Ability With Long-term Functional Outcome in Patients With COL6-Related DystrophiesDaniel Natera-de Benito, A Reghan Foley, Cristina Domínguez-González, et al.
Neuromuscular Disorders : NMD|October 14, 2014
Results of a two-year pilot study of clinical outcome measures in collagen VI- and laminin alpha2-related congenital muscular dystrophiesKatherine G Meilleur, Minal S Jain, Linda S Hynan, et al.
Human Mutation|July 17, 2013
Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12Guida Landouré, Peng-Peng Zhu, Charles M Lourenço, et al.
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