(Q73351709)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11140841%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

title

Mutational analysis and genotype/phenotype correlation in Turkish Charcot-Marie-Tooth Type 1 and HNPP patients (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11140841%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

1 reference

1 reference

N Bissar-Tadmouri

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11140841%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

Y Parman

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11140841%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

L Boutrand

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11140841%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

F Deymeer

4

1 reference

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3 November 2019

P Serdaroglu

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11140841%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

A Vandenberghe

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11140841%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

E Battaloglu

7

1 reference

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3 November 2019

publication date

1 November 2000

1 reference

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3 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11140841%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

volume

58

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11140841%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11140841%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

page(s)

396-402

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11140841%20AND%20SRC:MED&resulttype=core&format=json

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

3 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580511.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580511.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580511.X

7 January 2021

Clinical variability in two pairs of identical twins with the Charcot-Marie-Tooth disease type 1A duplication

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580511.X

7 January 2021

Chromosome 1 Charcot-Marie-Tooth disease (CMT1B) locus in the Fc? receptor gene region

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580511.X

7 January 2021

Multicolor fluorescence in situ hybridization and pulsed field electrophoresis dissect CMT1B gene region

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580511.X

7 January 2021

The major peripheral myelin protein zero gene: structure and localization in the cluster of Fc gamma receptor genes on human chromosome 1q21.3-q23

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580511.X

7 January 2021

Role of myelin Po protein as a homophilic adhesion molecule

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580511.X

7 January 2021

Localization of Charcot-Marie-Tooth disease type 1a (CMT1A) to chromosome 17p11.2.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580511.X

7 January 2021

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

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580511.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580511.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580511.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580511.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580511.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580511.X

7 January 2021

Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580511.X

7 January 2021

Connexin mutations in X-linked Charcot-Marie-Tooth disease

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580511.X

7 January 2021

Hereditary neuropathy with liability to pressure palsies. Electrophysiological and histopathological aspects.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580511.X

7 January 2021

DNA deletion associated with hereditary neuropathy with liability to pressure palsies

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580511.X

7 January 2021

Diagnostic criteria for autosomal dominant hereditary motor and sensory neuropathy type Ia

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580511.X

7 January 2021

Guidelines for diagnosis of hereditary neuropathy with liability to pressure palsies

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580511.X

7 January 2021

Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580511.X

7 January 2021

Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580511.X

7 January 2021

Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). HMSN Collaborative Research Group

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580511.X

7 January 2021

Two novel mutations in the MPZ gene coding region in Charcot-Marie-Tooth type 1 patients of Turkish origin: S54P, [I30del; GVYI29ins].

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580511.X

7 January 2021

Charcot-Marie-Tooth Disease Type 1A -- Association with a Spontaneous Point Mutation in the PMP22 Gene

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580511.X

7 January 2021

Isolation and sequence determination of cDNA encoding PMP-22 (PAS-II/SR13/Gas-3) of human peripheral myelin

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580511.X

7 January 2021

Peripheral myelin protein 22: facts and hypotheses

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580511.X

7 January 2021

Ultrastructural PMP22 expression in inherited demyelinating neuropathies

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580511.X

7 January 2021

Underexpression of messenger RNA for peripheral myelin protein 22 in hereditary neuropathy with liability to pressure palsies

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580511.X

7 January 2021

Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580511.X

7 January 2021

Dejerine-Sottas disease with sensorineural hearing loss, nystagmus, and peripheral facial nerve weakness: de novo dominant point mutation of the PMP22 gene

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580511.X

7 January 2021

Dejerine-Sottas disease with de novo dominant point mutation of the PMP22 gene

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580511.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580511.X

7 January 2021

Congenital hypomyelination neuropathy with Ser72Leu substitution in PMP22

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580511.X

7 January 2021

Hereditary demyelinating neuropathy of infancy. A genetically complex syndrome

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580511.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580511.X

7 January 2021

Novel mutations of the peripheral myelin protein 22 gene in two pedigrees with Dejerine-Sottas disease

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580511.X

7 January 2021

Mutations in the connexin 32 gene in X-linked dominant Charcot-Marie-Tooth disease (CMTX1)

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580511.X

7 January 2021

Mutation analysis in Charcot-Marie-Tooth disease type 1 (CMT1)

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580511.X

7 January 2021

10.1034/J.1399-0004.2000.580511.X

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11140841%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

1 reference