因髓鞘蛋白零基因中Thr124Met突变导致的夏科-马里-图斯病与多发性硬化症相关。 - Suppr

Suppr

超能文献

Charcot-Marie-Tooth disease due to the Thr124Met mutation in the myelin protein zero gene associated with multiple sclerosis.

作者信息

Rajabally Yusuf A, Abbott Richard J

出版信息

J Peripher Nerv Syst. 2005 Dec;10(4):388-9. doi: 10.1111/j.1085-9489.2005.00054.x.

DOI:10.1111/j.1085-9489.2005.00054.x

PMID:16279991

Abstract

摘要

相似文献

Charcot-Marie-Tooth disease due to the Thr124Met mutation in the myelin protein zero gene associated with multiple sclerosis.

J Peripher Nerv Syst. 2005 Dec;10(4):388-9. doi: 10.1111/j.1085-9489.2005.00054.x.

A novel mutation, Thr65Ala, in the MPZ gene in a patient with Charcot-Marie-Tooth type 1B disease with focally folded myelin.

Neuromuscul Disord. 2004 Mar;14(3):229-32. doi: 10.1016/j.nmd.2003.12.001.

[Two families of Charcot-Marie-Tooth disease with Adie's pupil, axonal neuropahy and the Thr124Met mutation in the peripheral myelin protein zero gene].

Rinsho Shinkeigaku. 2000 Feb;40(2):149-54.

Autonomic and respiratory dysfunction in Charcot-Marie-Tooth disease due to Thr124Met mutation in the myelin protein zero gene.

Clin Neurophysiol. 2003 Sep;114(9):1609-14. doi: 10.1016/s1388-2457(03)00159-7.

Early onset Charcot-Marie-Tooth type 1B disease caused by a novel Leu190fs mutation in the myelin protein zero gene.

Eur J Paediatr Neurol. 2004;8(4):221-4. doi: 10.1016/j.ejpn.2004.04.001.

Charcot-Marie-Tooth disease due to novel myelin protein zero mutation presenting as late-onset remitting sensory neuropathy.

J Clin Neuromuscul Dis. 2010 Jun;11(4):187-90. doi: 10.1097/CND.0b013e3181a84bb8.

Unusual Charcot-Marie-Tooth phenotype due to a mutation within the intracellular domain of myelin protein zero.

Muscle Nerve. 2010 Apr;41(4):550-4. doi: 10.1002/mus.21523.

Clinical and genetic description of a family with Charcot-Marie-Tooth disease type 1B from a transmembrane MPZ mutation.

Muscle Nerve. 2004 Jun;29(6):867-9. doi: 10.1002/mus.20034.

Gene symbol: MPZ. Disease: Charcot-Marie-Tooth disease. Accession #Hm0549.

Hum Genet. 2006 Feb;118(6):781.

Gene symbol: MPZ. Disease: Charcot-Marie-Tooth disease. Accession #Hm0551.

Hum Genet. 2006 Feb;118(6):781.

引用本文的文献

Phenotypic spectrum of myelin protein zero-related neuropathies: a large cohort study from five mutation clusters across Italy.

J Neurol Neurosurg Psychiatry. 2024 Dec 16;96(1):47-53. doi: 10.1136/jnnp-2024-333842.

A rare association between multiple sclerosis and Charcot-Marie-Tooth type 1B.

Brain Behav. 2016 Sep 25;6(12):e00580. doi: 10.1002/brb3.580. eCollection 2016 Dec.

Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene.

Brain. 2015 Nov;138(Pt 11):3180-92. doi: 10.1093/brain/awv241. Epub 2015 Aug 25.

The sad plight of multiple sclerosis research (low on fact, high on fiction): critical data to support it being a neurocristopathy.

Inflammopharmacology. 2010 Dec;18(6):265-90. doi: 10.1007/s10787-010-0054-4. Epub 2010 Sep 24.

Myelin protein zero mutation His39Pro: hereditary motor and sensory neuropathy with variable onset, hearing loss, restless legs and multiple sclerosis.

J Neurol Neurosurg Psychiatry. 2006 Aug;77(8):963-6. doi: 10.1136/jnnp.2006.090076.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验