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Neurology|January 5, 2018
Atypical periodic paralysis and myalgia: A novel <i>RYR1</i> phenotypeEmma Matthews, Christoph Neuwirth, Fatima Jaffer, et al.Iscience|March 5, 2021
Rapid subcellular calcium responses and dynamics by calcium sensor G-CatchER<sup></sup>Florence N Reddish, Cassandra L Miller, Xiaonan Deng, et al.Brain Communications|October 5, 2022
Targeted transcript analysis in muscles from patients with genetically diverse congenital myopathiesChristoph Bachmann, Martina Franchini, Luuk R Van den Bersselaar, et al.Journal of Neuromuscular Diseases|May 8, 2023
Muscle Ultrasound Abnormalities in Individuals with RYR1-Related Malignant Hyperthermia SusceptibilityLuuk R van den Bersselaar, Nens van Alfen, Nick Kruijt, et al.Medicine|August 20, 2021
The neuromuscular and multisystem features of RYR1-related malignant hyperthermia and rhabdomyolysis: A study protocolLuuk R van den Bersselaar, Nick Kruijt, Gert-Jan Scheffer, et al.Brain : a Journal of Neurology|May 8, 2007
Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathiesHaiyan Zhou, Heinz Jungbluth, Caroline A Sewry, et al.Neuromuscular Disorders : NMD|January 19, 2010
Multi-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) geneHaiyan Zhou, Suzanne Lillis, Ryan E Loy, et al.Human Mutation|April 2, 2019
Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathiesChristoph Bachmann, Faiza Noreen, Nicol C Voermans, et al.Brain : a Journal of Neurology|February 11, 2020
Clinical, morphological and genetic characterization of Brody disease: an international study of 40 patientsJoery P Molenaar, Jamie I Verhoeven, Richard J Rodenburg, et al.Human Mutation|September 1, 2018
STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibilityIrina T Zaharieva, Anna Sarkozy, Pinki Munot, et al.Pageof 10