Vocal cord paresis and diaphragmatic dysfunction are severe and frequent symptoms of GDAP1-associated neuropathy-Reference-Cited by-同舟云学术

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Vocal cord paresis and diaphragmatic dysfunction are severe and frequent symptoms of GDAP1-associated neuropathy

Published:2008-06-21 Issue:11 Volume:131 Page:3051-3061
ISSN:0006-8950
Container-title:Brain
language:en
Short-container-title:Brain

Author:

Sevilla T.,Jaijo T.,Nauffal D.,Collado D.,Chumillas M. J.,Vilchez J. J.,Muelas N.,Bataller L.,Domenech R.,Espinos C.,Palau F.

Publisher

Oxford University Press (OUP)

Subject

Clinical Neurology

Link

http://academic.oup.com/brain/article-pdf/131/11/3051/1057606/awn228.pdf

Reference47 articles.

1. Disorders of Pulmonary Function, Sleep, and the Upper Airway in Charcot-Marie-Tooth Disease

2. Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth disease

3. Variability of disease progression in a family with autosomal recessive CMT associated with a S194X and new R310Q mutation in the GDAP1 gene

4. Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21

5. CMT4A: Identification of a HispanicGDAP1 founder mutation

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1. Genetic and clinical profile of 15 Chinese families with GDAP1‐related Charcot–Marie–Tooth disease and identification of H256R as a frequent mutation;Journal of the Peripheral Nervous System;2024-05-05

2. Mutational screening of GDAP1 in dysphonia associated with Charcot-Marie-Tooth disease: clinical insights and phenotypic effects;Journal of Genetic Engineering and Biotechnology;2023-12

3. Charcot-Marie-Tooth disease: from historical landmarks in Brazil to current care perspectives;Arquivos de Neuro-Psiquiatria;2023-08-23

4. Intrinsic Susceptibility Of The Left Vs Right Recurrent Laryngeal Nerve To Paralysis: A Systematic Review;2023-08-10

5. Disruption of BMP4 signaling is associated with laryngeal birth defects in a mouse model;Developmental Biology;2023-08

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