Associated Papers
Applying National Whole-genome Sequencing Findings for Rare Diseases in Clinical Practice: The Imperative of a Multidisciplinary Approach.
Park KS et al.
Annals of Laboratory Medicine, 2026
Phenotype-Genotype Correlations in Early-Onset Myelin Protein Zero-Related Neuropathies.
Laurini C et al.
Neurology. Genetics, 2025
Computational prioritization of deleterious human myelin protein zero gene mutations reveals structural disruption and potential myelin dysfunction through dynamic simulations and stability analysis.
Alhassan HH et al.
Journal of Biomolecular Structure & Dynamics, 2025
Novel mutation in the MPZ gene causes early-onset but slow-progressive Charcot-Marie-Tooth disease in a Russian family: a case report.
Kozina AA et al.
The Journal of International Medical Research, 2022
Roussy-Lévy syndrome: a case of genotype-phenotype correlation.
Cioffi E et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021
Genotype-phenotype correlation in French patients with myelin protein zero gene-related inherited neuropathy.
Subréville M et al.
European Journal of Neurology, 2021
Genetic spectrum of Charcot-Marie-Tooth disease associated with myelin protein zero gene variants in Japan.
Taniguchi T et al.
Clinical Genetics, 2021
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
Impact of I30T and I30M substitution in MPZ gene associated with Dejerine-Sottas syndrome type B (DSSB): A molecular modeling and dynamics.
Agrahari A et al.
Journal of Theoretical Biology, 2015
Genetic epidemiology of Charcot-Marie-Tooth disease.
Braathen GJ
Acta Neurologica Scandinavica. Supplementum, 2012
Congenital hypomyelinating neuropathy due to a novel MPZ mutation.
Sevilla T et al.
Journal of the Peripheral Nervous System : Jpns, 2011
Dysmyelinating and demyelinating Charcot-Marie-Tooth disease associated with two myelin protein zero gene mutations.
Drac H et al.
Journal of Applied Genetics, 2011
Novel MPZ mutations and congenital hypomyelinating neuropathy.
McMillan HJ et al.
Neuromuscular Disorders : Nmd, 2010
Loss of the inactive myotubularin-related phosphatase Mtmr13 leads to a Charcot-Marie-Tooth 4B2-like peripheral neuropathy in mice.
Robinson FL et al.
Proceedings of the National Academy of Sciences of the United States of America, 2008
Diagnostic value of ultrastructural nerve examination in Charcot-Marie-Tooth disease: two CMT 1B cases with pseudo-recessive inheritance.
Vallat JM et al.
Acta Neuropathologica, 2007
Focally folded myelin in Charcot-Marie-Tooth type 1B disease is associated with Asn131Lys mutation in myelin protein zero gene: short report.
Kochański A et al.
European Journal of Neurology, 2003
Progress in clinical neurosciences: Charcot-Marie-Tooth disease and related inherited peripheral neuropathies.
Benstead TJ et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2001
The Roussy-Lévy family: from the original description to the gene.
Planté-Bordeneuve V et al.
Annals of Neurology, 1999
[The glucose-pyruvate test in Friedreich's ataxia and Charcot-Marie-Tooth disease].
Reggio A et al.
Acta Neurologica, 1981
[Diagnostic usefulness of the determination of protein 14-3-3 in cerebrospinal fluid in Creutzfeld-Jakob disease].
Sáiz A et al.
Neurologia (barcelona, Spain), 0