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Plos One|September 3, 2010
SMA CARNI-VAL trial part I: double-blind, randomized, placebo-controlled trial of L-carnitine and valproic acid in spinal muscular atrophyKathryn J Swoboda, Charles B Scott, Thomas O Crawford, et al.Muscle & Nerve|May 18, 2013
SMA valiant trial: a prospective, double-blind, placebo-controlled trial of valproic acid in ambulatory adults with spinal muscular atrophyJohn T Kissel, Bakri Elsheikh, Wendy M King, et al.Plos One|October 19, 2020
Medical management of muscle weakness in Duchenne muscular dystrophySarah R Rivera, Sumit K Jhamb, Hoda Z Abdel-Hamid, et al.Annals of Clinical and Translational Neurology|August 20, 2025
Long-Term Evaluation of Givinostat in Duchenne Muscular Dystrophy, and Natural History ComparisonsCraig M McDonald, Michela Guglieri, Dragana Vučinić, et al.Brain : a Journal of Neurology|November 27, 2018
Development and validation of the Charcot-Marie-Tooth Disease Infant ScaleMelissa R Mandarakas, Manoj P Menezes, Kristy J Rose, et al.Muscle & Nerve|August 24, 2017
Clinical trial of L-Carnitine and valproic acid in spinal muscular atrophy type IKristin J Krosschell, John T Kissel, Elise L Townsend, et al.American Journal of Human Genetics|May 14, 2013
Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegiaEmily C Oates, Alexander M Rossor, Majid Hafezparast, et al.Brain : a Journal of Neurology|June 7, 2023
Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variantsChristopher J Record, Mariola Skorupinska, Matilde Laura, et al.Nature Genetics|April 2, 2013
Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndromeLaura M McDonell, Ghayda M Mirzaa, Diana Alcantara, et al.Neurology|February 13, 2020
A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scoresVera Fridman, Stefan Sillau, Gyula Acsadi, et al.Pageof 5