欧洲遗传性运动感觉神经病联盟第三届研讨会：第54届ENMC国际研讨会——1型遗传性运动感觉神经病及遗传性压迫易感性神经病的基因型/表型相关性，1997年11月28日至30日，荷兰纳尔登 - Suppr

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3rd workshop of the European CMT consortium: 54th ENMC International Workshop on genotype/phenotype correlations in Charcot-Marie-Tooth type 1 and hereditary neuropathy with liability to pressure palsies 28-30 November 1997, Naarden, The Netherlands.

出版信息

Neuromuscul Disord. 1998 Dec;8(8):591-603. doi: 10.1016/s0960-8966(98)00067-4.

DOI:10.1016/s0960-8966(98)00067-4

PMID:10093067

Abstract

摘要

相似文献

3rd workshop of the European CMT consortium: 54th ENMC International Workshop on genotype/phenotype correlations in Charcot-Marie-Tooth type 1 and hereditary neuropathy with liability to pressure palsies 28-30 November 1997, Naarden, The Netherlands.欧洲遗传性运动感觉神经病联盟第三届研讨会：第54届ENMC国际研讨会——1型遗传性运动感觉神经病及遗传性压迫易感性神经病的基因型/表型相关性，1997年11月28日至30日，荷兰纳尔登

Neuromuscul Disord. 1998 Dec;8(8):591-603. doi: 10.1016/s0960-8966(98)00067-4.

Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study.1型遗传性运动感觉神经病和易患压迫性麻痹的遗传性神经病的突变频率估计：一项欧洲合作研究。

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2nd Workshop of the European CMT Consortium: 53rd ENMC International Workshop on Classification and Diagnostic Guidelines for Charcot-Marie-Tooth Type 2 (CMT2-HMSN II) and Distal Hereditary Motor Neuropathy (distal HMN-Spinal CMT) 26-28 September 1997, Naarden, The Netherlands.欧洲遗传性运动感觉神经病联盟第二届研讨会：第53届ENMC国际研讨会——2型遗传性运动感觉神经病（CMT2 - HMSN II）和远端遗传性运动神经病（远端HMN - 脊髓型CMT）的分类与诊断指南，1997年9月26日至28日，荷兰纳尔登

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Charcot-Marie-Tooth disease and related peripheral neuropathies: novel mutations in the peripheral myelin genes connexin 32 (Cx32), peripheral myelin protein 22 (PMP22), and peripheral myelin protein zero (MPZ).夏科-马里-图思病及相关周围神经病：外周髓鞘基因连接蛋白32（Cx32）、外周髓鞘蛋白22（PMP22）和外周髓鞘蛋白零（MPZ）中的新突变。

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P0-deficient knockout mice as tools to understand pathomechanisms in Charcot-Marie-Tooth 1B and P0-related Déjérine-Sottas syndrome.P0基因缺陷型敲除小鼠作为理解1B型遗传性运动感觉神经病和P0相关的德热里纳-索塔斯综合征发病机制的工具。

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Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination.不同MPZ（P0）突变的临床表型可能包括1B型腓骨肌萎缩症、Dejerine-Sottas病和先天性髓鞘形成低下。

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Genetic epidemiology of Charcot-Marie-Tooth disease.夏科-马里-图思病的遗传流行病学

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Charcot-Marie-Tooth disease and related inherited neuropathies.夏科-马里-图思病及相关遗传性神经病

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Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies.遗传性周围神经病中周围髓鞘基因及相关基因的突变

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A Search for Undiagnosed Charcot-Marie-Tooth Disease Among Patients Registered with Unspecified Polyneuropathy in the Danish National Patient Registry.在丹麦国家患者登记处登记为未特定的多发性神经病患者中寻找未确诊的夏科-马里-图斯病

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CNS involvement in CMTX1 caused by a novel connexin 32 mutation: a 6-year follow-up in neuroimaging and nerve conduction.由一种新型连接蛋白32突变引起的CMTX1中的中枢神经系统受累：神经影像学和神经传导的6年随访

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Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene.由MPZ基因突变引起的遗传性神经病的基因型-表型特征及基线自然病史。

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

Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing.全外显子组测序提高遗传性周围神经病的基因诊断。

Mol Genet Genomic Med. 2015 Mar;3(2):143-54. doi: 10.1002/mgg3.126. Epub 2015 Jan 14.

Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth family.外显子组测序可快速鉴定夏科-马里-图什病家系的致病基因。

Ann Neurol. 2011 Mar;69(3):464-70. doi: 10.1002/ana.22235. Epub 2011 Jan 20.

Gap junction beta 1 (GJB1) gene mutations in Italian patients with X-linked Charcot-Marie-Tooth disease.意大利X连锁型夏科-马里-图斯病患者的缝隙连接蛋白β1（GJB1）基因突变

J Hum Genet. 2008;53(6):529-533. doi: 10.1007/s10038-008-0280-4. Epub 2008 Apr 1.

Inherited focal, episodic neuropathies: hereditary neuropathy with liability to pressure palsies and hereditary neuralgic amyotrophy.遗传性局灶性发作性神经病：遗传性压力易感性麻痹和遗传性神经性肌萎缩。

Neuromolecular Med. 2006;8(1-2):159-74. doi: 10.1385/NMM:8:1:159.

Median nerve motor conduction velocity is concordant with myelin protein zero gene mutation.正中神经运动传导速度与髓鞘蛋白零基因突变一致。

J Neurol. 2005 Feb;252(2):151-5. doi: 10.1007/s00415-005-0621-6.

Connexin mutations in skin disease and hearing loss.皮肤疾病和听力损失中的连接蛋白突变。

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