Associated Papers
Disease Progression in Charcot-Marie-Tooth Disease Related to MPZ Mutations: A Longitudinal Study.
Fridman V et al.
Annals of Neurology, 2023
Thr124Met myelin protein zero mutation mimicking motor neuron disease.
Bisogni G et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2022
Concomitant MPZ and MFN2 Gene Variants and Charcot Marie Tooth Disease in a Boy: Clinical and Genetic Analysis-Literature Review.
Comella M et al.
Case Reports in Pediatrics, 2022
Genetic spectrum of Charcot-Marie-Tooth disease associated with myelin protein zero gene variants in Japan.
Taniguchi T et al.
Clinical Genetics, 2021
A Novel Asp121Asn Mutation of Myelin Protein Zero Is Associated with Late-Onset Axonal Charcot-Marie-Tooth Disease, Hearing Loss and Pupil Abnormalities.
Duan X et al.
Frontiers in Aging Neuroscience, 2016
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
Late-onset CMT phenotype caused by a novel mutation in the MPZ gene.
O'Connor G et al.
European Journal of Neurology, 2012
Cellular characterization of MPZ mutations presenting with diverse clinical phenotypes.
Lee YC et al.
Journal of Neurology, 2010
Charcot–Marie–Tooth disease type 2J with MPZ Thr124Met mutation: clinico-electrophysiological and MRI study of a family.
Gallardo E et al.
Journal of Neurology, 2009
[Predominant parasympathetic involvement in a patient with Charcot-Marie-Tooth disease caused by the MPZ Thr124Met mutation].
Nakamura N et al.
Rinsho Shinkeigaku = Clinical Neurology, 2009
Late onset autosomal dominant Charcot-Marie-Tooth 2 neuropathy in a Costa Rican family.
Berghoff C et al.
Neurological Research, 2009
Late-onset Charcot-Marie-Tooth type 2 disease with hearing impairment associated with a novel Pro105Thr mutation in the MPZ gene.
Kabzińska D et al.
American Journal of Medical Genetics. Part A, 2007
Charcot-Marie-Tooth families in Japan with MPZ Thr124Met mutation.
Kurihara S et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2004
Chronic cough due to Thr124Met mutation in the peripheral myelin protein zero (MPZ gene).
Baloh RH et al.
Neurology, 2004
A novel mutation of myelin protein zero associated with an axonal form of Charcot-Marie-Tooth disease.
Santoro L et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2004
The causes of Charcot-Marie-Tooth disease.
Young P et al.
Cellular and Molecular Life Sciences : Cmls, 2003
Late onset Charcot-Marie-Tooth 2 syndrome caused by two novel mutations in the MPZ gene.
Auer-Grumbach M et al.
Neurology, 2003
Two amino-acid substitutions in the myelin protein zero gene of a case of Charcot-Marie-Tooth disease associated with light-near dissociation.
Bienfait HM et al.
Neuromuscular Disorders : Nmd, 2002
Nerve conduction abnormalities in aging mice deficient for myelin-associated glycoprotein.
Weiss MD et al.
Muscle & Nerve, 2001
An axonal form of Charcot-Marie-Tooth disease showing distinctive features in association with mutations in the peripheral myelin protein zero gene (Thr124Met or Asp75Val).
Misu K et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2000
[Two families of Charcot-Marie-Tooth disease with Adie's pupil, axonal neuropahy and the Thr124Met mutation in the peripheral myelin protein zero gene].
Misu K et al.
Rinsho Shinkeigaku = Clinical Neurology, 2000