Associated Papers
A Computational Approach to Identify a Potential Alternative Drug With Its Positive Impact Toward PMP22.
Agrahari AK et al.
Journal of Cellular Biochemistry, 2017
Influence of Pathogenic Mutations on the Energetics of Translocon-Mediated Bilayer Integration of Transmembrane Helices.
Schlebach JP et al.
The Journal of Membrane Biology, 2015
The homology model of PMP22 suggests mutations resulting in peripheral neuropathy disrupt transmembrane helix packing.
Mittendorf KF et al.
Biochemistry, 2014
Genetic epidemiology of Charcot-Marie-Tooth disease.
Braathen GJ
Acta Neurologica Scandinavica. Supplementum, 2012
Phenotypic spectrum of MFN2 mutations in the Spanish population.
Casasnovas C et al.
Journal of Medical Genetics, 2010
Charcot-Marie-Tooth type 1A disease caused by a novel Ser112Arg mutation in the PMP22 gene, coexisting with a slowly progressive hearing impairment.
Kabzińska D et al.
Journal of Applied Genetics, 2010
Dejerine-Sottas syndrome and vestibular loss due to a point mutation in the PMP22 gene.
Jen J et al.
Journal of the Neurological Sciences, 2005
Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.
Boerkoel CF et al.
Annals of Neurology, 2002
[The glucose-pyruvate test in Friedreich's ataxia and Charcot-Marie-Tooth disease].
Reggio A et al.
Acta Neurologica, 1981
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