Associated Papers
Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants.
Record CJ et al.
Brain : a Journal of Neurology, 2023
37284795 (PubMed )
Supplement: awad187_supplementary_data.zip › Supp_data_2_working_v2.pdf
Charcot-Marie-Tooth disease: experience from a large Italian tertiary neuromuscular center.
Gentile L et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2020
[Transient, recurrent, white matter lesions in X-linked Charcot-Marie-Tooth disease with heterozygote mutation of GJB1 gene: case report of a female patient].
Takemaru M et al.
Rinsho Shinkeigaku = Clinical Neurology, 2018
A Review of X-linked Charcot-Marie-Tooth Disease.
Wang Y et al.
Journal of Child Neurology, 2016
Charcot-Marie-Tooth type X: unusual phenotype of a novel CX32 mutation.
Mazzeo A et al.
European Journal of Neurology, 2008
Hereditary motor and sensory neuropathy (HMSN) type X1 in an Argentinean family reveals independent GJB1/Cx32 mutations at the identical nucleotide position.
Gerding WM et al.
Molecular and Cellular Probes, 0
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