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Acta Neuropathologica Communications|November 12, 2020
In vivo RyR1 reduction in muscle triggers a core-like myopathyLaurent Pelletier, Anne Petiot, Julie Brocard, et al.Acta Neuropathologica Communications|January 7, 2019
'Dusty core disease' (DuCD): expanding morphological spectrum of RYR1 recessive myopathiesMatteo Garibaldi, John Rendu, Julie Brocard, et al.Plos One|July 5, 2013
An integrated diagnosis strategy for congenital myopathiesJohann Böhm, Nasim Vasli, Edoardo Malfatti, et al.Human Molecular Genetics|March 17, 2012
Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in humanNathalie Roux-Buisson, Marine Cacheux, Anne Fourest-Lieuvin, et al.Journal of Medical Genetics|September 30, 2020
Clinical phenotype and loss of the slow skeletal muscle troponin T in three new patients with recessive TNNT1 nemaline myopathyJustine Géraud, Klaus Dieterich, John Rendu, et al.Pageof 3