(Q54483657)

30 May 2018

title

Genetics of the Charcot-Marie-Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy-Russe in depth. (English)

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hereditary motor and sensory neuropathy

main subject

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author

Francesc Palau

8

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Carmen Espinós

9

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Carmen Paradas

object named as

C Paradas

4

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author name string

T Sevilla

1

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D Martínez-Rubio

2

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C Márquez

3

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J Colomer

5

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T Jaijo

6

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J M Millán

7

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publication date

10 October 2012

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published in

Clinical Genetics

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volume

83

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issue

6

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page(s)

565-570

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N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom

cites work

1 reference

The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4.

21 January 2018

1 reference

A mutation in an alternative untranslated exon of hexokinase 1 associated with hereditary motor and sensory neuropathy -- Russe (HMSNR).

21 January 2018

1 reference

Hereditary motor and sensory neuropathy--Lom, a novel demyelinating neuropathy associated with deafness in gypsies. Clinical, electrophysiological and nerve biopsy findings.

21 January 2018

1 reference

Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy

21 January 2018

1 reference

The phenotype of Charcot-Marie-Tooth disease type 4C due to SH3TC2 mutations and possible predisposition to an inflammatory neuropathy

21 January 2018

1 reference

Reliability and validity of the CMT neuropathy score as a measure of disability.

21 January 2018

1 reference

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

21 January 2018

1 reference

Clinical, electrophysiological and morphological findings of Charcot-Marie-Tooth neuropathy with vocal cord palsy and mutations in the GDAP1 gene.

21 January 2018

1 reference

Phenotypical features of the p.R120W mutation in the GDAP1 gene causing autosomal dominant Charcot-Marie-Tooth disease

21 January 2018

1 reference

A novel Gypsy founder mutation, p.Arg1109X in the CMT4C gene, causes variable peripheral neuropathy phenotypes

21 January 2018

1 reference

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

21 January 2018

1 reference

Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect

21 January 2018

1 reference

A novel locus for autosomal recessive peripheral neuropathy in the EGR2 region on 10q23.

21 January 2018

1 reference

A common founder mutation in FANCA underlies the world's highest prevalence of Fanconi anemia in Gypsy families from Spain.

21 January 2018

1 reference

Mutation screening of the N-myc downstream-regulated gene 1 (NDRG1) in patients with Charcot-Marie-Tooth Disease

21 January 2018

1 reference

Hereditary motor and sensory neuropathy-russe: New autosomal recessive neuropathy in balkan gypsies

21 January 2018

1 reference

Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1111/CGE.12015

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