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Experimental Neurology|December 3, 2014
Axonal Charcot-Marie-Tooth disease patient-derived motor neurons demonstrate disease-specific phenotypes including abnormal electrophysiological propertiesMario A Saporta, Vu Dang, Dmitri Volfson, et al.
Human Molecular Genetics|September 22, 2018
A nonsense mutation in myelin protein zero causes congenital hypomyelination neuropathy through altered P0 membrane targeting and gain of abnormal functionPietro Fratta, Francesca Ornaghi, Gabriele Dati, et al.
HGG Advances|February 27, 2023
Biallelic pathogenic variants in the mitochondrial form of phosphoenolpyruvate carboxykinase cause peripheral neuropathyNeal Sondheimer, Alberto Aleman, Jessie Cameron, et al.
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.
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