Associated Papers
Selective Bilateral Vestibular Neuropathy in a Turkish CMT1B Family With a Novel MPZ Mutation.
Akdal G et al.
Neurology. Clinical Practice, 2021
Genetic spectrum of Charcot-Marie-Tooth disease associated with myelin protein zero gene variants in Japan.
Taniguchi T et al.
Clinical Genetics, 2021
Pathological mutations in PNKP trigger defects in DNA single-strand break repair but not DNA double-strand break repair.
Kalasova I et al.
Nucleic Acids Research, 2020
Myelin protein zero mutations and the unfolded protein response in Charcot Marie Tooth disease type 1B.
Bai Y et al.
Annals of Clinical and Translational Neurology, 2018
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
Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene.
Sanmaneechai O et al.
Brain : a Journal of Neurology, 2015
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
A Costa Rican family affected with Charcot-Marie-Tooth disease due to the myelin protein zero (MPZ) p.Thr124Met mutation shares the Belgian haplotype.
Leal A et al.
Revista De Biologia Tropical, 2014
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
A new MPZ mutation associated with a mild CMT1 phenotype presenting with recurrent nerve compression.
Magot A et al.
Muscle & Nerve, 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
Case records of the Massachusetts General Hospital. Case 18-2006. A 57-year-old woman with numbness and weakness of the feet and legs.
Triggs WJ et al.
The New England Journal of Medicine, 2006
[Acute relapse in Charcot-Marie-Tooth 1B neuropathy: can protein P0 behave like an autoantigen?].
Fleury M et al.
Revue Neurologique, 2004
Genetics of hereditary motor and sensory neuropathy and the Costa Rican contribution.
Leal A
Revista De Biologia Tropical, 2004
Charcot-Marie-Tooth disease: a novel Tyr145Ser mutation in the myelin protein zero (MPZ, P0) gene causes different phenotypes in homozygous and heterozygous carriers within one family.
Leal A et al.
Neurogenetics, 2003
[Type II Charcot-Marie-Tooth and dopa-sensitive Parkinson disease].
Tranchant C et al.
Revue Neurologique, 1994
Fiber-Specific Changes in White Matter Microstructure in Individuals With X-Linked Auditory Neuropathy.
Zanin J et al.
Ear and Hearing, 0