(Q46768520)

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

9 January 2020

title

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

1 reference

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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

1 reference

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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

1 reference

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9 January 2020

Vera Rocha

8

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9 January 2020

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

page(s)

972-979

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9 January 2020

issue

8

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

9 January 2020

exact match

0 references

cites work

Hereditary neurodegenerative disorders in Nigerian Africans

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

21 January 2018

1 reference

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-005-0797-9

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-005-0797-9

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

21 January 2018

1 reference

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

21 January 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Variation of Phenotype in Charcot-Marie-Tooth Disease

1 reference

12 December 2020

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

1 reference

12 December 2020

Charcot-Marie-Tooth disease type 1a (CMT1a): evidence for trisomy of the region p11.2 of chromosome 17 in south Wales families

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Neurological dysfunction and axonal degeneration in Charcot-Marie-Tooth disease type 1A.

1 reference

12 December 2020

The phenotypic manifestations of chromosome 17p11.2 duplication.

1 reference

12 December 2020

Electrophysiological features of inherited demyelinating neuropathies: A reappraisal in the era of molecular diagnosis.

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12 December 2020

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

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12 December 2020

Charcot-Marie-Tooth neuropathies: from clinical description to molecular genetics

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12 December 2020

Atypical phenotype of charcot-marie-tooth disease type 1A

1 reference

12 December 2020

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

1 reference

12 December 2020

Hereditary motor-sensory neuropathy and movement disorders

1 reference

12 December 2020

Clinical predominance of proximal upper limb weakness in CMT1A syndrome

1 reference

12 December 2020

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.

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

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

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

Novel PCR-based diagnostic tools for Charcot-Marie-Tooth type 1A and hereditary neuropathy with liability to pressure palsies

1 reference

12 December 2020

Nerve conduction studies in Charcot-Marie-Tooth polyneuropathy associated with a segmental duplication of chromosome 17

1 reference

12 December 2020

Charcot-Marie-Tooth (CMT) 1a duplication at 17p11.2 in Italian families

1 reference

12 December 2020

Genetically determined neuropathies

1 reference

12 December 2020

Detection of the CMT1A/HNPP recombination hotspot in unrelated patients of European descent

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Neuropathic pain in Charcot-Marie-Tooth disease

1 reference

12 December 2020

Diagnosis of peripheral neuropathies: general characteristics of the population study

1 reference

12 December 2020

Calf enlargement in hereditary motor and sensory neuropathy

1 reference

12 December 2020

Molecular diagnostic testing in Charcot-Marie-Tooth disease and related disorders. Approaches and results

1 reference

12 December 2020

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

1 reference

12 December 2020

Molecular anatomy and genetics of myelin proteins in the peripheral nervous system

1 reference

12 December 2020

Charcot-Marie-Tooth disease type 1A with 17p11.2 duplication. Clinical and electrophysiological phenotype study and factors influencing disease severity in 119 cases.

1 reference

12 December 2020

The phylogeography of Brazilian Y-chromosome lineages

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Recombination hot spot in a 3.2-kb region of the Charcot-Marie-Tooth type 1A repeat sequences: new tools for molecular diagnosis of hereditary neuropathy with liability to pressure palsies and of Charcot-Marie-Tooth type 1A. French CMT Collaborative

1 reference

12 December 2020

Screening of dominantly inherited Charcot-Marie-Tooth neuropathies

1 reference

12 December 2020

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 reference

12 December 2020

EMG evaluation of the floppy infant: differential diagnosis and technical aspects

1 reference

12 December 2020

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

1 reference

12 December 2020

10.1007/S00415-005-0797-9

Identifiers

DOI

1 reference

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

9 January 2020

1 reference