A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2L) maps to chromosome 12q24 (Q79777643)

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25 December 2019

title

A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2L) maps to chromosome 12q24 (English)

1 reference

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Charcot-Marie-Tooth disease type 2

25 December 2019

main subject

1 reference

Bei-Sha Tang

1

1 reference

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25 December 2019

Wei Luo

2

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25 December 2019

Kun Xia

3

1 reference

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25 December 2019

Jian-Feng Xiao

4

1 reference

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25 December 2019

Hong Jiang

5

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25 December 2019

Lu Shen

6

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25 December 2019

Jian-Guang Tang

7

1 reference

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25 December 2019

Guo-Hua Zhao

8

1 reference

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25 December 2019

Fang Cai

9

1 reference

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25 December 2019

Qian Pan

10

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25 December 2019

He-Ping Dai

11

1 reference

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25 December 2019

Qi-Dong Yang

12

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25 December 2019

Jia-Hui Xia

13

1 reference

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25 December 2019

Oleg V Evgrafov

14

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25 December 2019

publication date

12 March 2004

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25 December 2019

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25 December 2019

volume

114

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25 December 2019

issue

6

1 reference

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25 December 2019

page(s)

527-533

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https://scigraph.springernature.com/pub.10.1007/s00439-004-1102-1

25 December 2019

exact match

0 references

cites work

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 19

1 reference

12 December 2020

Clinical and pathological phenotype of the original family with Charcot-Marie-Tooth type 1B: a 20-year study

1 reference

12 December 2020

The clinical features of hereditary motor and sensory neuropathy types I and II

1 reference

12 December 2020

An axonal form of Charcot-Marie-Tooth disease showing distinctive features in association with mutations in the peripheral myelin protein zero gene (Thr124Met or Asp75Val).

1 reference

12 December 2020

Strategies for multilocus linkage analysis in humans

1 reference

12 December 2020

The gene for HMSN2C maps to 12q23-24: a region of neuromuscular disorders

1 reference

12 December 2020

A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2F) maps to chromosome 7q11-q21

1 reference

12 December 2020

Localisation of the gene for a dominant congenital spinal muscular atrophy predominantly affecting the lower limbs to chromosome 12q23-q24

1 reference

12 December 2020

Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A

1 reference

12 December 2020

Absence of PMP22 coding region mutations in CMT1A duplication patients: further evidence supporting gene dosage as a mechanism for Charcot-Marie-Tooth disease type 1A

1 reference

12 December 2020

Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies

1 reference

12 December 2020

A locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 1q21.2-q21.3.

1 reference

12 December 2020

The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease

1 reference

12 December 2020

Genetic and clinical aspects of Charcot-Marie-Tooth's disease

1 reference

12 December 2020

Linkage of scapuloperoneal spinal muscular atrophy to chromosome 12q24.1-q24.31.

1 reference

12 December 2020

Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.

1 reference

12 December 2020

Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy

1 reference

12 December 2020

Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E.

1 reference

12 December 2020

Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. I. Neurologic, genetic, and electrophysiologic findings in hereditary polyneuropathies

1 reference

12 December 2020

Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta

1 reference

12 December 2020

The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A

1 reference

12 December 2020

Peripheral myelin protein-22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot-Marie-Tooth 1A.

1 reference

12 December 2020

A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene

1 reference

12 December 2020

The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication

1 reference

12 December 2020

Phenotypical features of a Moroccan family with autosomal recessive Charcot-Marie-Tooth disease associated with the S194X mutation in the GDAP1 gene

1 reference

12 December 2020

The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A

1 reference

12 December 2020

Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2.

1 reference

12 December 2020

Abnormal Schwann cell-axon interactions in CMT neuropathies. The effects of mutant Schwann cells on the axonal cytoskeleton and regeneration-associated myelination

1 reference

12 December 2020

Distal hereditary motor neuropathy type II (distal HMN II): mapping of a locus to chromosome 12q24.

1 reference

12 December 2020

DNA duplication associated with Charcot-Marie-Tooth disease type 1A

1 reference

12 December 2020

Charcot-Marie-Tooth disease: lessons in genetic mechanisms

1 reference

12 December 2020

Hereditary motor and sensory neuropathy of neuronal type with onset in early childhood.

1 reference

12 December 2020

Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21

1 reference

12 December 2020

Gene for hereditary motor and sensory neuropathy (proximal dominant form) mapped to 3q13.1

1 reference

12 December 2020

Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation

1 reference

12 December 2020

Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C.

1 reference

12 December 2020

Myelin uncompaction in Charcot-Marie-Tooth neuropathy type 1A with a point mutation of peripheral myelin protein-22

1 reference

12 December 2020

Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a)

1 reference

12 December 2020