Associated Papers
New evidence for secondary axonal degeneration in demyelinating neuropathies.
Moss KR et al.
Neuroscience Letters, 2021
Subcellular diversion of cholesterol by gain- and loss-of-function mutations in PMP22.
Zhou Y et al.
Glia, 2020
A Computational Approach to Identify a Potential Alternative Drug With Its Positive Impact Toward PMP22.
Agrahari AK et al.
Journal of Cellular Biochemistry, 2017
The homology model of PMP22 suggests mutations resulting in peripheral neuropathy disrupt transmembrane helix packing.
Mittendorf KF et al.
Biochemistry, 2014
25243937 (PubMed )
Supplement: bi500809t_si_001.pdf
Severe Charcot-Marie-Tooth disease type 1E caused by a novel p.Phe84Leufs*24 PMP22 point mutation.
Vital A et al.
Journal of the Peripheral Nervous System : Jpns, 2013
Dejerine-Sottas disease and hereditary demyelinating polyneuropathy of infancy.
Plante-Bordeneuve V et al.
Muscle & Nerve, 2002
[Ciguatera and peripheral neuropathy: a case report].
Derouiche F et al.
Revue Neurologique, 2000
Dejerine-sottas disease with a novel de novo dominant mutation, Ser 149 Arg, of the peripheral myelin protein 22.
Ohnishi A et al.
Acta Neuropathologica, 2000
[Genetic studies in neurology].
Lechner-Scott J et al.
Schweizerische Medizinische Wochenschrift, 1997
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