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Neuromuscular Disorders : NMD|August 19, 2017
Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patientsOsorio Abath Neto, Cristiane de Araújo Martins Moreno, Edoardo Malfatti, et al.Human Mutation|April 3, 2014
Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathiesMinttu Marttila, Vilma-Lotta Lehtokari, Steven Marston, et al.European Heart Journal|March 22, 2021
Association between prophylactic angiotensin-converting enzyme inhibitors and overall survival in Duchenne muscular dystrophy-analysis of registry dataRaphaël Porcher, Isabelle Desguerre, Helge Amthor, et al.Plos One|February 6, 2016
Gender as a Modifying Factor Influencing Myotonic Dystrophy Type 1 Phenotype Severity and Mortality: A Nationwide Multiple Databases Cross-Sectional Observational StudyCeline Dogan, Marie De Antonio, Dalil Hamroun, et al.Brain : a Journal of Neurology|May 2, 2024
Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosisJulian Theuriet, Marion Masingue, Anthony Behin, et al.Brain : a Journal of Neurology|May 15, 2023
The emerging spectrum of fetal acetylcholine receptor antibody-related disorders (FARAD)Nicholas M Allen, Mark O'Rahelly, Bruno Eymard, et al.Orphanet Journal of Rare Diseases|October 17, 2015
Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutationsSandra Mercier, Sébastien Küry, Emmanuelle Salort-Campana, et al.Neurology. Clinical Practice|December 28, 2018
Consensus-based care recommendations for adults with myotonic dystrophy type 1Tetsuo Ashizawa, Cynthia Gagnon, William J Groh, et al.Journal of Medical Genetics|April 6, 2021
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenitaAnnie Laquerriere, Dana Jaber, Emanuela Abiusi, et al.Circulation|June 4, 2019
Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in LaminopathiesKarim Wahbi, Rabah Ben Yaou, Estelle Gandjbakhch, et al.Pageof 21