Mutations in a Gene Encoding a Novel SH3/TPR Domain Protein Cause Autosomal Recessive Charcot-Marie-Tooth Type 4C Neuropathy-Reference-Cited by-同舟云学术

Mutations in a Gene Encoding a Novel SH3/TPR Domain Protein Cause Autosomal Recessive Charcot-Marie-Tooth Type 4C Neuropathy

Published:2003-11 Issue:5 Volume:73 Page:1106-1119
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Senderek Jan,Bergmann Carsten,Stendel Claudia,Kirfel Jutta,Verpoorten Nathalie,De Jonghe Peter,Timmerman Vincent,Chrast Roman,Verheijen Mark H.G.,Lemke Greg,Battaloglu Esra,Parman Yesim,Erdem Sevim,Tan Ersin,Topaloglu Haluk,Hahn Andreas,Müller-Felber Wolfgang,Rizzuto Nicolò,Fabrizi Gian Maria,Stuhrmann Manfred,Rudnik-Schöneborn Sabine,Züchner Stephan,Michael Schröder J.,Buchheim Eckhard,Straub Volker,Klepper Jörg,Huehne Kathrin,Rautenstrauss Bernd,Büttner Reinhard,Nelis Eva,Zerres Klaus

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference30 articles.

1. Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma;Azzedine;Am J Hum Genet,2003

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

3. Exon skipping in Mcl-1 results in a bcl-2 homology domain 3 only gene product that promotes cell death;Bingle;J Biol Chem,2000

4. The tetratricopeptide repeat: a structural motif mediating protein-protein interactions;Blatch;Bioessays,1999

5. Periaxin mutations cause recessive Dejerine-Sottas neuropathy;Boerkoel;Am J Hum Genet,2001

Cited by 175 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. Genetic Landscape of SH3TC2 variants in Russian patients with Charcot–Marie–Tooth disease;Frontiers in Genetics;2024-06-06

2. Late Onset of Severe Demyelinating Peripheral Neuropathy in a 62-Year-Old African American Woman;Journal of Clinical Neuromuscular Disease;2024-03

3. Charcot-Marie-Tooth Disease;Reference Module in Neuroscience and Biobehavioral Psychology;2024

4. AAV9-mediated SH3TC2 gene replacement therapy targeted to Schwann cells for the treatment of CMT4C;Molecular Therapy;2023-11

5. The Meryon Lecture at the 24th annual meeting of the Meryon Society, St. Anne's College, Oxford, UK, 15th July 2022;Neuromuscular Disorders;2023-10