Molecular analysis in Japanese patients with Charcot-Marie-Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations (Q78434076)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12402337%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

title

Molecular analysis in Japanese patients with Charcot-Marie-Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12402337%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

author name string

Chikahiko Numakura

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12402337%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

Changqing Lin

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12402337%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

Tohru Ikegami

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12402337%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

Per Guldberg

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12402337%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

Kiyoshi Hayasaka

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12402337%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

publication date

1 November 2002

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12402337%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12402337%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

volume

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12402337%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12402337%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

page(s)

392-398

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12402337%20AND%20SRC:MED&resulttype=core&format=json

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

14 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10134

Connexin32 and X-linked Charcot-Marie-Tooth disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10134

The rapid detection of unknown mutations in nucleic acids.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10134

'Broad-range' DGGE for single-step mutation scanning of entire genes: application to human phenylalanine hydroxylase gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10134

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10134

Charcot–Marie–Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10134

Facilitated diagnosis of CMT1A duplication in chromosome 17p11.2-12: analysis with a CMT1A-REP repeat probe and photostimulated luminescence imaging

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10134

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10134

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10134

Deletion of the serine 34 codon from the major peripheral myelin protein P0 gene in Charcot-Marie-Tooth disease type 1B

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10134

Computational simulation of DNA melting and its application to denaturing gradient gel electrophoresis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10134

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10134

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10134

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).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10134

Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian families

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10134

Identification of a 5' splice site mutation in the PMP-22 gene in autosomal dominant Charcot-Marie-Tooth disease type 1

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10134

Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10134

Mutation analysis of the nerve specific promoter of the peripheral myelin protein 22 gene in CMT1 disease and HNPP.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10134

Hemizygous mutation of the peripheral myelin protein 22 gene associated with Charcot-Marie-Tooth disease type 1

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10134

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10134

Sensitivity of single-strand conformation polymorphism and heteroduplex method for mutation detection in the cystic fibrosis gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10134

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10134

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10134

Mutations of the same sequence of the myelin P0 gene causing two different phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10134

Screening for connexin 32 mutations in Charcot-Marie-Tooth disease families with possible X-linked inheritance

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10134

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10134

Linkage and mutation analysis of Charcot-Marie-Tooth neuropathy type 2 families with chromosomes 1p35-p36 and Xq13

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10134

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10134

Two novel mutations (C53S, S26L) in the connexin32 of Charcot-Marie-Tooth disease type X families

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10134

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10134

21 January 2018

Identifiers

DOI

10.1002/HUMU.10134

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12402337%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

1 reference