Associated Papers
Towards a functional pathology of hereditary neuropathies.
Weis J et al.
Acta Neuropathologica, 2017
Co-segregation of a homozygous SMN1 deletion and a heterozygous PMP22 duplication in a patient.
Fernández RM et al.
Clinical Case Reports, 2016
The EGR2 gene is involved in axonal Charcot-Marie-Tooth disease.
Sevilla T et al.
European Journal of Neurology, 2015
Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort.
Wang H et al.
Investigative Ophthalmology & Visual Science, 2015
X-linked dominant Charcot-Marie-Tooth disease with connexin 32 (Cx32) mutations in Koreans.
Kim Y et al.
Clinical Genetics, 2012
Charcot-marie-tooth disease: seventeen causative genes.
Lee JH et al.
Journal of Clinical Neurology (seoul, Korea), 2006
Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot-Marie-Tooth disease family.
Chung KW et al.
Neurogenetics, 2005
Prenylation-defective human connexin32 mutants are normally localized and function equivalently to wild-type connexin32 in myelinating Schwann cells.
Huang Y et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2005
Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients.
Choi BO et al.
Human Mutation, 2004
Genetic Spectrum of Inherited Neuropathies in India.
Sharma S et al.
Annals of Indian Academy of Neurology, 0
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