(Q48091038)

English

X-linked dominant Charcot-Marie-Tooth neuropathy: clinical, electrophysiological, and morphological phenotype in four families with different connexin32 mutations(1).

scientific article published in August 1999

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10521546%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

X-linked dominant Charcot-Marie-Tooth neuropathy: clinical, electrophysiological, and morphological phenotype in four families with different connexin32 mutations(1) (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10521546%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

electrophysiology

1 reference

based on heuristic

inferred from title

1

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10521546%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

6

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10521546%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

author name string

B Hermanns

2

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10521546%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

C Bergmann

3

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10521546%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

B Boroojerdi

4

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10521546%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

M Bajbouj

5

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10521546%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

V T Ramaekers

7

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10521546%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

S Quasthoff

8

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10521546%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

D Karch

9

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10521546%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

J M Schröder

10

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10521546%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

publication date

1 August 1999

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10521546%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

Journal of the Neurological Sciences

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10521546%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

167

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10521546%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

2

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10521546%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

90-101

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10521546%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

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

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900146-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900146-X

7 January 2021

Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900146-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900146-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900146-X

7 January 2021

Hereditary motor and sensory neuropathy: HMSN type II (neuronal type) and X-linked HMSN.

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900146-X

7 January 2021

X-linked Charcot-Marie-Tooth disease. A linkage study in a large family by using 12 probes of the pericentromeric region

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900146-X

7 January 2021

Hereditary motor and sensory neuropathy, X-linked: a half century follow-up

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900146-X

7 January 2021

Charcot-Marie-Tooth disease: histopathological features of the peripheral myelin protein (PMP22) duplication (CMT1A) and connexin32 mutations (CMTX1)

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900146-X

7 January 2021

Intermediate nerve conduction velocities define X-linked Charcot-Marie-Tooth neuropathy families

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900146-X

7 January 2021

Efficient neurophysiologic selection of X-linked Charcot-Marie-Tooth families: ten novel mutations.

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900146-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900146-X

7 January 2021

X-linked dominant Charcot-Marie-Tooth disease: suggestion of linkage with a cloned DNA sequence from the proximal Xq.

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900146-X

7 January 2021

Connexin32 is a myelin-related protein in the PNS and CNS

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900146-X

7 January 2021

Slowing of central conduction in X-linked Charcot-Marie-Tooth neuropathy shown by brain stem auditory evoked responses

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900146-X

7 January 2021

X-linked dominant Charcot-Marie-Tooth disease: nerve biopsies allow morphological evaluation and detection of connexin32 mutations (Arg15Trp, Arg22Gln).

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900146-X

7 January 2021

PMP-22 gene duplications and deletions identified in archival, paraffin-embedded sural nerve biopsy specimens: correlation to structural changes

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900146-X

7 January 2021

Cloning and characterization of human and rat liver cDNAs coding for a gap junction protein

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900146-X

7 January 2021

Connections with connexins: the molecular basis of direct intercellular signaling

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900146-X

7 January 2021

Null mutations of connexin32 in patients with X-linked Charcot-Marie-Tooth disease.

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900146-X

7 January 2021

Altered trafficking of mutant connexin32

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900146-X

7 January 2021

Changes in permeability caused by connexin 32 mutations underlie X-linked Charcot-Marie-Tooth disease

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900146-X

7 January 2021

Connexin 32 mutations from X-linked Charcot-Marie-Tooth disease patients: functional defects and dominant negative effects

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900146-X

7 January 2021

A connexin-32 mutation associated with Charcot-Marie-Tooth disease does not affect channel formation in oocytes.

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900146-X

7 January 2021

Mutations of connexin32 in Charcot-Marie-Tooth disease type X interfere with cell-to-cell communication but not cell proliferation and myelin-specific gene expression.

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900146-X

7 January 2021

Gap junctions: new tools, new answers, new questions

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900146-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/10.1016%2FS0022-510X%2899%2900146-X

7 January 2021

X-linked dominant Charcot-Marie-Tooth neuropathy: valine-38-methionine substitution of connexin32

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900146-X

7 January 2021

Connexin domains relevant to the chemical gating of gap junction channels.

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900146-X

7 January 2021

Connexin32-null mice develop demyelinating peripheral neuropathy

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900146-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900146-X

7 January 2021

Germline and somatic mosaicism in a female carrier of Duchenne muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900146-X

7 January 2021

Molecular genetics of inherited variation in human color vision

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900146-X

7 January 2021

A family with Charcot-Marie-Tooth's disease, showing a probable X-linked incompletely dominant inheritance

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900146-X

7 January 2021

Correlation between connexin 32 gene mutations and clinical phenotype in X-linked dominant Charcot-Marie-Tooth neuropathy

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900146-X

7 January 2021

Missense mutation (R15W) of the connexin32 gene in a family with X chromosomal Charcot-Marie-Tooth neuropathy with only female family members affected

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900146-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900146-X

7 January 2021

Evidence that Charcot-Marie-tooth disease with tremor coincides with the Roussy-Levy syndrome.

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900146-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900146-X

7 January 2021

Roussy-Lévy syndrome is a phenotypic variant of Charcot-Marie-Tooth syndrome IA associated with a duplication on chromosome 17p11.2.

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900146-X

7 January 2021

The phenotypic manifestations of chromosome 17p11.2 duplication.

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900146-X

7 January 2021

Charcot-Marie-Tooth Disease Associated with ‘Essential Tremor’ and Normal and/or Slightly Diminished Motor Conduction Velocity

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900146-X

7 January 2021

Tremor associated with benign IgM paraproteinaemic neuropathy

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900146-X

7 January 2021

Hereditary motor-sensory neuropathy and movement disorders

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900146-X

7 January 2021

Central visual, acoustic, and motor pathway involvement in a Charcot-Marie-Tooth family with an Asn205Ser mutation in the connexin 32 gene

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900146-X

7 January 2021

Gap junctions in the brain: where, what type, how many and why?

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900146-X

7 January 2021

Fine structural evaluation of altered Schmidt-Lanterman incisures in human sural nerve biopsies

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900146-X

7 January 2021

Functional gap junctions in the schwann cell myelin sheath

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900146-X

7 January 2021

Reciprocal Schwann cell-axon interactions

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900146-X

7 January 2021

Abnormalities in the axonal cytoskeleton induced by a connexin32 mutation in nerve xenografts.

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900146-X

7 January 2021

Structural abnormalities and deficient maintenance of peripheral nerve myelin in mice lacking the gap junction protein connexin 32

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900146-X

7 January 2021

Parental origin and germline mosaicism of deletions and duplications of the dystrophin gene: a European study.

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900146-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1016/S0022-510X(99)00146-X

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10521546%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10521546%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q48091038&oldid=1391194481"