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Annals of Neurology|January 22, 2011
Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth familyGladys Montenegro, Eric Powell, Jia Huang, et al.Journal of the Peripheral Nervous System : JPNS|May 13, 2020
Validation of the Italian version of the Charcot-Marie-Tooth disease Pediatric ScaleRiccardo Zuccarino, Valeria Prada, Isabella Moroni, et al.Annals of Neurology|March 28, 2012
Gain of glycosylation: a new pathomechanism of myelin protein zero mutationsValeria Prada, Mario Passalacqua, Maria Bono, et al.JCI Insight|April 4, 2023
Sorbitol reduction via govorestat ameliorates synaptic dysfunction and neurodegeneration in sorbitol dehydrogenase deficiencyYi Zhu, Amanda G Lobato, Adriana P Rebelo, et al.Annals of the New York Academy of Sciences|November 1, 2017
Peripheral Neuropathy Caused by Proteolipid Protein Gene MutationsJames Y Garbern, Franca Cambi, Richard Lewis, et al.Annals of Neurology|March 9, 2018
Myelin abnormality in Charcot-Marie-Tooth type 4J recapitulates features of acquired demyelinationBo Hu, Megan McCollum, Vignesh Ravi, et al.Annals of Neurology|February 9, 2002
Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlationCornelius F Boerkoel, Hiroshi Takashima, Carlos A Garcia, et al.Annals of Neurology|January 27, 2006
Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2Stephan Züchner, Peter De Jonghe, Albena Jordanova, et al.Journal of Neurology, Neurosurgery, and Psychiatry|May 15, 2017
Genetic and clinical characteristics of <i>NEFL</i>-related Charcot-Marie-Tooth diseaseAlejandro Horga, Matilde Laurà, Zane Jaunmuktane, et al.Neurology|December 3, 2021
Phase 2 Trial of Rituximab in Acetylcholine Receptor Antibody-Positive Generalized Myasthenia Gravis: The BeatMG StudyRichard J Nowak, Christopher S Coffey, Jonathan M Goldstein, et al.Pageof 4