17p duplicated Charcot-Marie-Tooth 1A: characteristics of a new population. (Q46768520)

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9 January 2020

title

17p duplicated Charcot-Marie-Tooth 1A: characteristics of a new population (English)

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9 January 2020

author

Amilton Antunes Barreira

9

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9 January 2020

author name string

Wilson Marques

1

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9 January 2020

Marcos R Freitas

2

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9 January 2020

Osvaldo J M Nascimento

3

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9 January 2020

Acary B Oliveira

4

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9 January 2020

Leandro Calia

5

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9 January 2020

Ailton Melo

6

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9 January 2020

Rita Lucena

7

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9 January 2020

Vera Rocha

8

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publication date

18 March 2005

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9 January 2020

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9 January 2020

volume

252

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9 January 2020

issue

8

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9 January 2020

page(s)

972-979

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https://scigraph.springernature.com/pub.10.1007/s00415-005-0797-9

9 January 2020

exact match

0 references

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Compression of spinal cord and cauda equina in Charcot-Marie-Tooth disease type 1A.

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Trisomy 17p associated with Charcot-Marie-Tooth neuropathy type 1A phenotype: evidence for gene dosage as a mechanism in CMT1A

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A clinical, electrophysiologic, neuropathologic, and genetic study of two large Algerian families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease

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Compression syndromes due to hypertrophic nerve roots in hereditary motor sensory neuropathy type I.

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Uniform slowing of conduction velocities in Charcot-Marie-Tooth polyneuropathy type 1

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Dejerine-Sottas neuropathy and PMP22 point mutations: a new base pair substitution and a possible "hot spot" on Ser72

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Variation of Phenotype in Charcot-Marie-Tooth Disease

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Hereditary motor and sensory neuropathy with calf hypertrophy is associated with 17p 11.2 duplication

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Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication

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The devastating combination of Charcot-Marie-Tooth disease and facioscapulohumeral muscular dystrophy

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Clinical predominance of proximal upper limb weakness in CMT1A syndrome

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Study on the gene and phenotypic characterisation of autosomal recessive demyelinating motor and sensory neuropathy (Charcot-Marie-Tooth disease) with a gene locus on chromosome 5q23-q33.

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

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

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12 December 2020

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

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Duplication within chromosome 17p11.2 in 12 families of French ancestry with Charcot-Marie-Tooth disease type 1a. The French CMT Research Group

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Hereditary motor and sensory neuropathy type I: clinical and neurographical features of the 17p duplication subtype

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

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Charcot-Marie-Tooth disease type 1A with 17p duplication in infancy and early childhood: a longitudinal clinical and electrophysiologic study

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A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element.

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The frequency of 17p11.2 duplication and Connexin 32 mutations in 282 Charcot-Marie-Tooth families in relation to the mode of inheritance and motor nerve conduction velocity

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12 December 2020

10.1007/S00415-005-0797-9

Identifiers

DOI

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15765265%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

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