Variability of disease progression in a family with autosomal recessive CMT associated with a S194X and new R310Q mutation in the GDAP1 gene-Reference-Cited by-同舟云学术

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

Published:2003-05 Issue:4 Volume:13 Page:341-346
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Azzedine H,Ruberg M,Ente D,Gilardeau C,Périé S,Wechsler B,Brice A,LeGuern E,Dubourg O

Publisher

Elsevier BV

Subject

Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health

Reference27 articles.

1. Inherited neuronal degeneration and atrophy affecting peripheral motor, sensory, and autonomic neurons;Dyck,1975

2. The clinical features of hereditary motor and sensory neuropathy types I and II;Harding;Brain,1980

3. Peroneal muscular atrophy. Part I. Clinical and electrophysiological study;Bouche;J Neurol Sci,1983

4. Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q;Ben Othmane;Hum Mol Genet,1993

5. Ganglioside induced differentiation-associated protein 1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21;Baxter;Nat Genet,2002

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1. 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

2. Conformational analysis of membrane-proximal segments of GDAP1 in a lipidic environment using synchrotron radiation suggests a mode of assembly at the mitochondrial outer membrane;Biophysical Chemistry;2023-12

3. Rapid degeneration of iPSC-derived motor neurons lacking Gdap1 engages a mitochondrial-sustained innate immune response;Cell Death Discovery;2023-07-01

4. Conformational analysis of membrane-proximal segments of GDAP1 in a lipidic environment using synchrotron radiation suggests a mode of assembly at the mitochondrial outer membrane;2023-05-08

5. Conserved intramolecular networks in GDAP1 are closely connected to CMT-linked mutations and protein stability;PLOS ONE;2023-04-14

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