Associated Papers
Phenotype-genotype correlation in X-linked Charcot-Marie-Tooth disease: A French cohort study.
Barbat du Closel L et al.
European Journal of Neurology, 2025
Charcot-Marie-Tooth Disease With Leukodystrophy: An Atypical Presentation.
Almarzooqi A
Cureus, 2024
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
The mutational profile in a South African cohort with inherited neuropathies and spastic paraplegia.
Mahungu AC et al.
Frontiers in Neurology, 2023
Genetic profile of Chinese patients with Charcot-Marie-Tooth disease.
Ouyang ZY et al.
Chinese Medical Journal, 2020
Evidence for Cognitive Deficits in X-Linked Charcot-Marie-Tooth Disease.
Kasselimis D et al.
Journal of the International Neuropsychological Society : Jins, 2020
Cross-Sectional Study in a Large Cohort of Chinese Patients With GJB1 Gene Mutations.
Liu X et al.
Frontiers in Neurology, 2020
Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1).
Panosyan FB et al.
Neurology, 2017
Connexinopathies: a structural and functional glimpse.
García IE et al.
Bmc Cell Biology, 2016
Phenotype expression in women with CMT1X.
Siskind CE et al.
Journal of the Peripheral Nervous System : Jpns, 2011
Novel RDH5 mutation in family with mother having fundus albipunctatus and three children with retinitis pigmentosa.
Wang C et al.
Ophthalmic Genetics, 2008
Gap junction beta 1 (GJB1) gene mutations in Italian patients with X-linked Charcot-Marie-Tooth disease.
Mandich P et al.
Journal of Human Genetics, 2008
Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton.
Fabrizi GM et al.
Brain : a Journal of Neurology, 2007
[The genetic polymorphism of melanoma-associated antigen 1 in Chinese normal donors and hepatoma patients].
Wang LP et al.
Zhonghua Gan Zang Bing Za Zhi = Zhonghua Ganzangbing Zazhi = Chinese Journal of Hepatology, 2004
Connexin mutations in hearing loss, dermatological and neurological disorders.
Rabionet R et al.
Trends in Molecular Medicine, 2002
The frequency of 17p11.2 duplication and Connexin 32 mutations in 282 Charcot-Marie-Tooth families in relation to the mode of inheritance and motor nerve conduction velocity.
Dubourg O et al.
Neuromuscular Disorders : Nmd, 2001
A founder mutation in French-Canadian families with X-linked hereditary neuropathy.
Dupré N et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2001
Severe X-linked Charcot-Marie-Tooth neuropathy due to new mutations [G59R(G-->C), W44X(G-->A)] in the connexin 32 gene.
Felice KJ et al.
European Neurology, 2000
X-linked Charcot-Marie-Tooth disease with connexin 32 mutations: clinical and electrophysiologic study.
Birouk N et al.
Neurology, 1998
Mutations in the X-linked form of Charcot-Marie-Tooth disease in the French population.
Latour P et al.
Neurogenetics, 1997
Charcot-Marie-Tooth disease with intermediate motor nerve conduction velocities: characterization of 14 Cx32 mutations in 35 families.
Rouger H et al.
Human Mutation, 1997
X-linked dominant Charcot-Marie-Tooth neuropathy (CMTX): new mutations in the connexin32 gene.
Ressot C et al.
Human Genetics, 1996