Associated Papers
Hereditary Polyneuropathies in the Era of Precision Medicine: Genetic Complexity and Emerging Strategies.
Chrysostomaki M et al.
Genes, 2026
Literature review of clinical analysis of hereditary neuropathy with liability to pressure palsies.
Chen L et al.
Journal of Neurology, 2024
39666198 (PubMed )
Supplement: 415_2024_12839_MOESM1_ESM.xlsx › Sheet1
Ion mobility-mass spectrometry reveals the role of peripheral myelin protein dimers in peripheral neuropathy.
Fantin SM et al.
Proceedings of the National Academy of Sciences of the United States of America, 2021
New evidence for secondary axonal degeneration in demyelinating neuropathies.
Moss KR et al.
Neuroscience Letters, 2021
A New Point Mutation in the PMP22 Gene in a Family Suffering From Atypical HNPP.
Benquey T et al.
Journal of Neuromuscular Diseases, 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
Conformational Stability and Pathogenic Misfolding of the Integral Membrane Protein PMP22.
Schlebach JP et al.
Journal of the American Chemical Society, 2015
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
Computational Analysis Reveals the Association of Threonine 118 Methionine Mutation in PMP22 Resulting in CMT-1A.
Kumar CV et al.
Advances in Bioinformatics, 2014
The various Charcot-Marie-Tooth diseases.
Vallat JM et al.
Current Opinion in Neurology, 2013
Variable phenotypes are associated with PMP22 missense mutations.
Russo M et al.
Neuromuscular Disorders : Nmd, 2011
Charcot-Marie-Tooth disease in Cyprus: epidemiological, clinical and genetic characteristics.
Nicolaou P et al.
Neuroepidemiology, 2010
A novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes.
Kleopa KA et al.
Neurogenetics, 2004
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