(Q74261783)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9488160%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

title

Absence of mutations in peripheral myelin protein-22, myelin protein zero, and connexin 32 in autosomal recessive Dejerine-Sottas syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9488160%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

author name string

F Stögbauer

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9488160%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

P Young

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9488160%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

H Wiebusch

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9488160%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

V Timmerman

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9488160%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

G Kuhlenbäumer

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9488160%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

E Nelis

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9488160%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

E B Ringelstein

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9488160%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

G Kurlemann

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9488160%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

G Assmann

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9488160%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

C Van Broeckhoven

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9488160%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

H Funke

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9488160%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

publication date

1 January 1998

1 reference

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9 November 2019

1 reference

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9 November 2019

volume

240

1 reference

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9 November 2019

issue

1

1 reference

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9 November 2019

page(s)

1-4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9488160%20AND%20SRC:MED&resulttype=core&format=json

Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q.

9 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0304-3940%2897%2900887-2

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0304-3940%2897%2900887-2

7 January 2021

Localization of a gene responsible for autosomal recessive demyelinating neuropathy with focally folded myelin sheaths to chromosome 11q23 by homozygosity mapping and haplotype sharing

1 reference

https://api.crossref.org/works/10.1016%2FS0304-3940%2897%2900887-2

7 January 2021

A novel homozygous mutation of the myelin Po gene producing Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III)

1 reference

https://api.crossref.org/works/10.1016%2FS0304-3940%2897%2900887-2

7 January 2021

A Dejerine-Sottas neuropathy family with a gene mapped on chromosome 8

1 reference

https://api.crossref.org/works/10.1016%2FS0304-3940%2897%2900887-2

7 January 2021

Gene mapping in Gypsies identifies a novel demyelinating neuropathy on chromosome 8q24

1 reference

https://api.crossref.org/works/10.1016%2FS0304-3940%2897%2900887-2

7 January 2021

A case of congenital hypomyelination neuropathy. Clinical, morphological, and chemical studies

1 reference

https://api.crossref.org/works/10.1016%2FS0304-3940%2897%2900887-2

7 January 2021

Homozygosity mapping of an autosomal recessive form of demyelinating Charcot-Marie-Tooth disease to chromosome 5q23-q33.

1 reference

https://api.crossref.org/works/10.1016%2FS0304-3940%2897%2900887-2

7 January 2021

Mutation analysis of the connexin 32 (Cx32) gene in Charcot-Marie-Tooth neuropathy type 1: identification of five new mutations

1 reference

https://api.crossref.org/works/10.1016%2FS0304-3940%2897%2900887-2

7 January 2021

THE HYPERTROPHIC FORMS OF HEREDITARY MOTOR AND SENSORY NEUROPATHY

1 reference

https://api.crossref.org/works/10.1016%2FS0304-3940%2897%2900887-2

7 January 2021

Autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths: clinical, electrophysiologic, and genetic aspects of a large family.

1 reference

https://api.crossref.org/works/10.1016%2FS0304-3940%2897%2900887-2

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%2FS0304-3940%2897%2900887-2

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/10.1016%2FS0304-3940%2897%2900887-2

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/10.1016%2FS0304-3940%2897%2900887-2

7 January 2021

Hereditary demyelinating neuropathy of infancy. A genetically complex syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0304-3940%2897%2900887-2

7 January 2021

A novel frameshift mutation in PMP22 accounts for hereditary neuropathy with liability to pressure palsies

1 reference

https://api.crossref.org/works/10.1016%2FS0304-3940%2897%2900887-2

7 January 2021

10.1016/S0304-3940(97)00887-2

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9488160%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

1 reference