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Brain : a Journal of Neurology|August 26, 2003
Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesiaNorma Beatriz Romero, Nicole Monnier, Louis Viollet, et al.Anesthesiology|November 2, 2002
Presence of two different genetic traits in malignant hyperthermia families: implication for genetic analysis, diagnosis, and incidence of malignant hyperthermia susceptibilityNicole Monnier, Renée Krivosic-Horber, Jean-François Payen, et al.Neuromuscular Disorders : NMD|June 26, 2009
A TPM3 mutation causing cap myopathyAndre Maues De Paula, Jerome Franques, Carla Fernandez, et al.Human Molecular Genetics|July 17, 2012
Congenital myopathy-causing tropomyosin mutations induce thin filament dysfunction via distinct physiological mechanismsJulien Ochala, David S Gokhin, Isabelle Pénisson-Besnier, et al.Neuromuscular Disorders : NMD|June 18, 2010
Evidence for a dominant negative disease mechanism in cap myopathy due to TPM3Leigh B Waddell, Michaela Kreissl, Andrew Kornberg, et al.Neurology|September 29, 2020
Asymmetric muscle weakness due to ACTA1 mosaic mutationsXavière Lornage, Susana Quijano-Roy, Helge Amthor, et al.Journal of Neuropathology and Experimental Neurology|January 6, 2007
Abnormal distribution of calcium-handling proteins: a novel distinctive marker in core myopathiesMuriel Herasse, Karine Parain, Isabelle Marty, et al.Archives of Neurology|January 21, 2004
Multiminicore disease in a family susceptible to malignant hyperthermia: histology, in vitro contracture tests, and genetic characterizationSandrine Guis, Dominique Figarella-Branger, Nicole Monnier, et al.Journal of Immunology (Baltimore, Md. : 1950)|September 20, 2008
Human C3 deficiency associated with impairments in dendritic cell differentiation, memory B cells, and regulatory T cellsArije Ghannam, Martine Pernollet, Jean-Luc Fauquert, et al.Journal of Neurology, Neurosurgery, and Psychiatry|May 16, 2014
Autosomal dominant eccentric core disease caused by a heterozygous mutation in the MYH7 geneNorma B Romero, Ting Xie, Edoardo Malfatti, et al.Pageof 5