A new SBF2 mutation in a family with recessive demyelinating Charcot-Marie-Tooth (CMT4B2)-Reference-Cited by-同舟云学术

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A new SBF2 mutation in a family with recessive demyelinating Charcot-Marie-Tooth (CMT4B2)

Published:2004-10-11 Issue:7 Volume:63 Page:1327-1328
ISSN:0028-3878
Container-title:Neurology
language:en
Short-container-title:Neurology

Author:

Conforti F. L.,Muglia M.,Mazzei R.,Patitucci A.,Valentino P.,Magariello A.,Sprovieri T.,Bono F.,Bergmann C.,Gabriele A. L.,Peluso G.,Nistico R.,Senderek J.,Quattrone A.

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Neurology (clinical)

Cited by 13 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. Identification of a Novel Homozygous Mutation in MTMR2 Gene Causes Very Rare Charcot–Marie–Tooth Disease Type 4B1;The Application of Clinical Genetics;2024-05

2. Charcot-Marie-Tooth Disease (CMT): Types 4B2, 4B3 (CMT4B3);Genetic Syndromes;2023

3. Charcot-Marie-Tooth type 4B2 demyelinating neuropathy in miniature Schnauzer dogs caused by a novel splicingSBF2 (MTMR13)genetic variant: a new spontaneous clinical model;PeerJ;2019-11-21

4. A multicenter retrospective study of charcot‐marie‐tooth disease type 4B (CMT4B) associated with mutations in myotubularin‐related proteins (MTMRs);Annals of Neurology;2019-05-27

5. Dysregulation of ErbB Receptor Trafficking and Signaling in Demyelinating Charcot-Marie-Tooth Disease;Molecular Neurobiology;2016-01-05

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