Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth disease-Reference-Cited by-同舟云学术

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

Published:2003-11 Issue:9 Volume:13 Page:720-728
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Ammar Nadia,Nelis Eva,Merlini Luciano,Barišić Nina,Amouri Rim,Ceuterick Chantal,Martin Jean-Jacques,Timmerman Vincent,Hentati Fayçal,De Jonghe Peter

Publisher

Elsevier BV

Subject

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

Reference17 articles.

1. Hereditary motor and sensory neuropathies;Dyck,1993

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

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

4. Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2;Bolino;Nat Genet,2000

5. N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom;Kalaydjieva;Am J Hum Genet,2000

Cited by 51 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

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

3. Differential effects of Mendelian GDAP1 clinical variants on mitochondria-lysosome membrane contacts sites;Biology Open;2023-04-03

4. Beneficial effects of a ketogenic diet in a woman with Charcot-Marie-Tooth disease;Archives of Food and Nutritional Science;2022-11-15

5. GDAP1 binds 4-hydroxynonenal, the toxic end-product of lipid peroxidation, using its GST-like binding pocket;2022-10-28

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