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Case report

First published 2020

A New Point Mutation in the PMP22 Gene in a Family Suffering From Atypical HNPP

T. Benquey, E. Fockens, L. Kouton [...]

Journal of Neuromuscular Diseases

Retricted access

Research article

First published 2001-08

Competitive Binding of Triplex-Forming Oligonucleotides in the Two Alternate Promoters of the PMP22 Gene

Mehreen Hai, Sanjay I. Bidichandani, Michael E. Hogan [...]

Nucleic Acid Therapeutics

Free access

Research article

First published 2009-10

Molecular Diagnosis of PMP22 Gene Duplications and Deletions: Comparison of Different Methods

Š Stangler Herodež, B Zagradišnik, A Erjavec Škerget [...]

Journal of International Medical Research

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Other

First published 1996-03

Correlation Between the Histopathologic,Genotypic,and Phenotypic Features of Hereditary Peripheral Neuropathies in Childhood

Robert Ouvrier

Journal of Child Neurology

Open access

Case report

First published 2026

Multiple Sclerosis in Charcot-Marie-Tooth Disease Type 1A – A Case Report and Literature Review

Wen Yang, Lei Zhou, Gavin P. Reynolds [...]

Journal of Central Nervous System Disease

Open access

Research article

First published 2024-7

EMP3: A promising biomarker for tumor prognosis and targeted cancer therapy

Wenjing Zhu, Shu Song, Yangchun Xu [...]

Cancer Biomarkers

Open access

Research article

First published 2025-1

Genetic landscape of Charcot–Marie–Tooth disease in Vietnam: A prospective multicenter study

Hoang Tien Trong Nghia, Thirugnanam Umapathi, Nguyen Minh Duc [...]

Journal of Neuromuscular Diseases

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Research article

First published 2003-06

A Rapid and Definitive Test for Charcot-Marie-Tooth 1A and Hereditary Neuropathy with Liability to Pressure Palsies Using Multiplexed Real-Time PCR

P. Lorentzos, T. Kaiser, M.L. Kennerson [...]

Genetic Testing and Molecular Biomarkers

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Review article

First published 2003-9

Molecular Mechanisms,Diagnosis,and Rational Approaches to Management of and Therapy for Charcot-Marie-Tooth Disease and Related Peripheral Neuropathies

Gulam Mustafa Saifi, Kinga Szigeti, G. Jackson Snipes [...]

Journal of Investigative Medicine

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Research article

First published 2024-2

Hereditary neuropathy associated with liability to pressure palsies: a 24-year experience with carpal and cubital tunnel surgery

Théo François, Jean-Baptiste Davion, Valérie Deken-Delannoy [...]

Journal of Hand Surgery (European Volume)

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