Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
A Computational Approach to Identify a Potential Alternative Drug With Its Positive Impact Toward PMP22.
Agrahari AK et al.
Journal of Cellular Biochemistry, 2017
Conformational changes associated with L16P and T118M mutations in the membrane-embedded PMP22 protein, consequential in CMT-1A.
Bello M et al.
Journal of Biomolecular Structure & Dynamics, 2017
Computational Analysis Reveals the Association of Threonine 118 Methionine Mutation in PMP22 Resulting in CMT-1A.
Kumar CV et al.
Advances in Bioinformatics, 2014
Molecular diagnosis and clinical onset of Charcot-Marie-Tooth disease in Japan.
Abe A et al.
Journal of Human Genetics, 2011
Variable phenotypes are associated with PMP22 missense mutations.
Russo M et al.
Neuromuscular Disorders : Nmd, 2011
Compound heterozygous deletions of PMP22 causing severe Charcot-Marie-Tooth disease of the Dejerine-Sottas disease phenotype.
Al-Thihli K et al.
American Journal of Medical Genetics. Part A, 2008
T118M PMP22 mutation causes partial loss of function and HNPP-like neuropathy.
Shy ME et al.
Annals of Neurology, 2006
Molecular genetics of autosomal-dominant demyelinating Charcot-Marie-Tooth disease.
Houlden H et al.
Neuromolecular Medicine, 2006
Autosomal-recessive Charcot-Marie-Tooth diseases.
Vallat JM et al.
Journal of Neuropathology and Experimental Neurology, 2005
[Autosomal recessive forms of Charcot-Marie-Tooth disease].
Vallat JM et al.
Bulletin De L'academie Nationale De Medecine, 2005
Recessive, but not dominant, mutations in peripheral myelin protein 22 gene show unique patterns of aggregation and intracellular trafficking.
Liu N et al.
Neurobiology of Disease, 2004
Autosomal recessive forms of Charcot-Marie-Tooth disease.
Vallat JM et al.
Current Neurology and Neuroscience Reports, 2004
Dejerine-Sottas disease and hereditary demyelinating polyneuropathy of infancy.
Plante-Bordeneuve V et al.
Muscle & Nerve, 2002
Molecular analysis in Japanese patients with Charcot-Marie-Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations.
Numakura C et al.
Human Mutation, 2002
The range of chronic demyelinating neuropathy of infancy: a clinico-pathological and genetic study of 15 unrelated cases.
Planté-Bordeneuve V et al.
Journal of Neurology, 2001
Association studies of Parkinson's disease and parkin polymorphisms.
Klein C et al.
Annals of Neurology, 2000
Hemizygous mutation of the peripheral myelin protein 22 gene associated with Charcot-Marie-Tooth disease type 1.
Numakura C et al.
Annals of Neurology, 2000