Associated Papers
Peripheral Myelin Protein 22 Gene Mutations in Charcot-Marie-Tooth Disease Type 1E Patients.
Jung NY et al.
Genes, 2022
Targeted Next-Generation Sequencing Panels in the Diagnosis of Charcot-Marie-Tooth Disease.
Unknown Author
Neurology, 2022
New evidence for secondary axonal degeneration in demyelinating neuropathies.
Moss KR et al.
Neuroscience Letters, 2021
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
Inherited neuropathies and deafness caused by a PMP22 point mutation: a case report and a review of the literature.
Luigetti M et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2013
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
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeII_
A novel point mutation in PMP22 gene associated with a familial case of Charcot-Marie-Tooth disease type 1A with sensorineural deafness.
Joo IS et al.
Neuromuscular Disorders : Nmd, 2004
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