Associated Papers
Charcot-Marie-Tooth Disease with Myelin Protein Zero Mutation Presenting as Painful, Predominant Small-Fiber Neuropathy.
Gemignani F et al.
International Journal of Molecular Sciences, 2024
The mutational profile in a South African cohort with inherited neuropathies and spastic paraplegia.
Mahungu AC et al.
Frontiers in Neurology, 2023
Genetic spectrum of Charcot-Marie-Tooth disease associated with myelin protein zero gene variants in Japan.
Taniguchi T et al.
Clinical Genetics, 2021
33179255 (PubMed )
Supplement: CGE-99-359-s001.docx
New evidence for secondary axonal degeneration in demyelinating neuropathies.
Moss KR et al.
Neuroscience Letters, 2021
Intermediate Charcot-Marie-Tooth disease due to a novel Trp101Stop myelin protein zero mutation associated with debilitating neuropathic pain.
Ramirez JD et al.
Pain, 2012
Unusual Charcot-Marie-Tooth phenotype due to a mutation within the intracellular domain of myelin protein zero.
Schneider-Gold C et al.
Muscle & Nerve, 2010
A patient with neurofibromatosis type 1 and Charcot-Marie-Tooth disease type 1B.
Lancaster E et al.
Muscle & Nerve, 2010
Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations.
Inoue K et al.
Nature Genetics, 2004
Early onset Charcot-Marie-Tooth type 1B disease caused by a novel Leu190fs mutation in the myelin protein zero gene.
Kochański A et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2004
Mild recurrent neuropathy in CMT1B with a novel nonsense mutation in the extracellular domain of the MPZ gene.
Lagueny A et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2001
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