(Q74552707)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9588852%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

title

A small direct tandem duplication of the myelin protein zero gene in a patient with Dejerine-Sottas disease phenotype (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9588852%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

1 reference

N Tachi

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9588852%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

N Kozuka

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9588852%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

K Ohya

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9588852%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

S Chiba

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9588852%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

S Yamashita

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9588852%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

publication date

1 April 1998

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9588852%20AND%20SRC:MED&resulttype=core&format=json

Journal of the Neurological Sciences

11 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9588852%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

volume

156

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9588852%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9588852%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

page(s)

167-171

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9588852%20AND%20SRC:MED&resulttype=core&format=json

A simple method for generating single-stranded DNA probes labeled to high activities

11 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900028-8

Hereditary demyelinating motor and sensory neuropathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900028-8

The status of HMSN type III.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900028-8

Congenital hypomyelination polyneuropathy. Pathological findings compared with polyneuropathies starting later in life

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900028-8

Autosomal recessive forms of hereditary motor and sensory neuropathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900028-8

Isolation and sequence determination of cDNA encoding the major structural protein of human peripheral myelin

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900028-8

Structure and chromosomal localization of the gene encoding the human myelin protein zero (MPZ)

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900028-8

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900028-8

Mutation of the myelin P0 gene in Charcot-Marie-tooth neuropathy type 1.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900028-8

Mutation of the myelin P0 gene in Charcot-Marie-Tooth neuropathy type 1B.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900028-8

De novo mutation of the myelin P0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III)

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900028-8

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900028-8

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900028-8

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900028-8

Isolation and analysis of the gene encoding peripheral myelin protein zero

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900028-8

The molecular genetics of myelination: an update

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900028-8

Rapid screening of myelin genes in CMT1 patients by SSCP analysis: identification of new mutations and polymorphisms in the P0 gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900028-8

Identification of a de novo insertional mutation in P0 in a patient with a Déjérine-Sottas syndrome (DSS) phenotype

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900028-8

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900028-8

Two cases of congenital hypomyelination neuropathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900028-8

A new mutation of the Po gene in patients with Charcot-Marie-Tooth disease type 1B: screening of the Po gene by heteroduplex analysis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900028-8

Detecting single base substitutions as heteroduplex polymorphisms

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900028-8

10.1016/S0022-510X(98)00028-8

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9588852%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

1 reference