(Q72993307)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10487913%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

title

Demyelinating X-linked Charcot-Marie-Tooth disease: unusual electrophysiological findings (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10487913%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10487913%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

author name string

F Tabaraud

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10487913%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

E Lagrange

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10487913%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

P Sindou

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10487913%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

A Vandenberghe

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10487913%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

J M Vallat

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10487913%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

publication date

1 October 1999

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10487913%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10487913%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

volume

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10487913%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

issue

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10487913%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

page(s)

1442-1447

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10487913%20AND%20SRC:MED&resulttype=core&format=json

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

31 October 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199910%2922%3A10%3C1442%3A%3AAID-MUS16%3E3.0.CO%3B2-6

X-linked Charcot-Marie-Tooth disease with connexin 32 mutations: clinical and electrophysiologic study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199910%2922%3A10%3C1442%3A%3AAID-MUS16%3E3.0.CO%3B2-6

New connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199910%2922%3A10%3C1442%3A%3AAID-MUS16%3E3.0.CO%3B2-6

Connexin32 and X-linked Charcot-Marie-Tooth disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199910%2922%3A10%3C1442%3A%3AAID-MUS16%3E3.0.CO%3B2-6

Connections with connexins: the molecular basis of direct intercellular signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199910%2922%3A10%3C1442%3A%3AAID-MUS16%3E3.0.CO%3B2-6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199910%2922%3A10%3C1442%3A%3AAID-MUS16%3E3.0.CO%3B2-6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199910%2922%3A10%3C1442%3A%3AAID-MUS16%3E3.0.CO%3B2-6

X-linked neuropathy: gene localization with DNA probes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199910%2922%3A10%3C1442%3A%3AAID-MUS16%3E3.0.CO%3B2-6

X-linked dominant hereditary motor and sensory neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199910%2922%3A10%3C1442%3A%3AAID-MUS16%3E3.0.CO%3B2-6

From the syndrome of Charcot, Marie and Tooth to disorders of peripheral myelin proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199910%2922%3A10%3C1442%3A%3AAID-MUS16%3E3.0.CO%3B2-6

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%2F%28SICI%291097-4598%28199910%2922%3A10%3C1442%3A%3AAID-MUS16%3E3.0.CO%3B2-6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199910%2922%3A10%3C1442%3A%3AAID-MUS16%3E3.0.CO%3B2-6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199910%2922%3A10%3C1442%3A%3AAID-MUS16%3E3.0.CO%3B2-6

Mutations of the noncoding region of the connexin32 gene in X-linked dominant Charcot-Marie-Tooth neuropathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199910%2922%3A10%3C1442%3A%3AAID-MUS16%3E3.0.CO%3B2-6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199910%2922%3A10%3C1442%3A%3AAID-MUS16%3E3.0.CO%3B2-6

Mutations in the X-linked form of Charcot-Marie-Tooth disease in the French population

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199910%2922%3A10%3C1442%3A%3AAID-MUS16%3E3.0.CO%3B2-6

The electrodiagnostic distinctions between chronic familial and acquired demyelinative neuropathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199910%2922%3A10%3C1442%3A%3AAID-MUS16%3E3.0.CO%3B2-6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199910%2922%3A10%3C1442%3A%3AAID-MUS16%3E3.0.CO%3B2-6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199910%2922%3A10%3C1442%3A%3AAID-MUS16%3E3.0.CO%3B2-6

Accelerated demyelination of peripheral nerves in mice deficient in connexin 32 and protein zero

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199910%2922%3A10%3C1442%3A%3AAID-MUS16%3E3.0.CO%3B2-6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199910%2922%3A10%3C1442%3A%3AAID-MUS16%3E3.0.CO%3B2-6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199910%2922%3A10%3C1442%3A%3AAID-MUS16%3E3.0.CO%3B2-6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199910%2922%3A10%3C1442%3A%3AAID-MUS16%3E3.0.CO%3B2-6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199910%2922%3A10%3C1442%3A%3AAID-MUS16%3E3.0.CO%3B2-6

Connexin32-null mice develop demyelinating peripheral neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199910%2922%3A10%3C1442%3A%3AAID-MUS16%3E3.0.CO%3B2-6

Novel missense mutation of the connexin32 (GJB1) gene in X-linked dominant Charcot-Marie-Tooth neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199910%2922%3A10%3C1442%3A%3AAID-MUS16%3E3.0.CO%3B2-6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199910%2922%3A10%3C1442%3A%3AAID-MUS16%3E3.0.CO%3B2-6

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%2F%28SICI%291097-4598%28199910%2922%3A10%3C1442%3A%3AAID-MUS16%3E3.0.CO%3B2-6

Hereditary motor and sensory neuropathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199910%2922%3A10%3C1442%3A%3AAID-MUS16%3E3.0.CO%3B2-6

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.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199910%2922%3A10%3C1442%3A%3AAID-MUS16%3E3.0.CO%3B2-6

10.1002/(SICI)1097-4598(199910)22:10<1442::AID-MUS16>3.0.CO;2-6

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10487913%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

1 reference