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European Journal of Human Genetics : EJHG|January 21, 2011
Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE geneNigel F Clarke, Svetlana Maugenre, Aurélie Vandebrouck, et al.Human Mutation|August 24, 2006
Spectrum of HSPG2 (Perlecan) mutations in patients with Schwartz-Jampel syndromeMorgane Stum, Claire-Sophie Davoine, Savine Vicart, et al.Journal of the Peripheral Nervous System : JPNS|November 3, 2010
Peripheral Nerve Society Guideline on processing and evaluation of nerve biopsiesClaudia L Sommer, Sebastian Brandner, Peter J Dyck, et al.Brain : a Journal of Neurology|June 29, 2012
Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron diseaseJanel O Johnson, J Raphael Gibbs, Andre Megarbane, et al.Journal of Neuromuscular Diseases|July 8, 2025
REGISTRE SMA FRANCE: A nationwide observational registry of patients with spinal muscular atrophy in FranceLamiae Grimaldi, Rocio Garcia-Uzquiano, Marta Gomez-Garcia de la Banda, et al.Annals of Neurology|April 12, 2006
CAPN3 mutations in patients with idiopathic eosinophilic myositisMartin Krahn, Adolfo Lopez de Munain, Nathalie Streichenberger, et al.Annals of Neurology|April 24, 2012
Homozygous deletion of an EGR2 enhancer in congenital amyelinating neuropathyBenoît Funalot, Piotr Topilko, Maria Antonia Ramos Arroyo, et al.Biomedicines|March 6, 2021
The lncRNA 44s2 Study Applicability to the Design of 45-55 Exon Skipping Therapeutic Strategy for DMDElena Gargaun, Sestina Falcone, Guilhem Solé, et al.Neurodegenerative Disease Management|June 6, 2019
Current management of Duchenne muscular dystrophy in the Middle East: expert reportMohammed Al Jumah, Mohammad Al Muhaizea, Ahmed Al Rumayyan, et al.Nature Genetics|April 28, 2006
A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressivaEileen M Shore, Meiqi Xu, George J Feldman, et al.Pageof 9