Associated Papers
Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French series.
Lerat J et al.
Molecular Genetics & Genomic Medicine, 2019
A Computational Approach to Identify a Potential Alternative Drug With Its Positive Impact Toward PMP22.
Agrahari AK et al.
Journal of Cellular Biochemistry, 2017
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
Novel human pathological mutations. Gene symbol: PMP22. Disease: Charcot-Marie-Tooth disease 1.
Rautenstrauss B et al.
Human Genetics, 2007
Novel human pathological mutations. Gene symbol: GJB1. Disease: Charcot-Marie-Tooth disease 1.
Rautenstrauss B et al.
Human Genetics, 2007
Novel human pathological mutations. Gene symbol: GJB1. Disease: Charcot-Marie-Tooth disease 1.
Rautenstrauss B et al.
Human Genetics, 2007
Novel human pathological mutations. Gene symbol: GJB1. Disease: Charcot-Marie-Tooth disease 1.
Rautenstrauss B et al.
Human Genetics, 2007
Novel human pathological mutations. Gene symbol: GJB1. Disease: Charcot-Marie-Tooth disease 1.
Rautenstrauss B et al.
Human Genetics, 2007
Novel human pathological mutations. Gene symbol: MPZ. Disease: Charcot-Marie-Tooth disease 1.
Rautenstrauss B et al.
Human Genetics, 2007
Novel human pathological mutations. Gene symbol: MPZ. Disease: Charcot-Marie-Tooth disease 1.
Rautenstrauss B et al.
Human Genetics, 2007
Cochlear implantation in a patient with deafness induced by Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathies).
Postelmans JT et al.
The Journal of Laryngology and Otology, 2006
Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1.
Huehne K et al.
Human Mutation, 2003
Select a paper to view details