(Q41485714)

English

De novo mutation (Arg98-->Cys) of the myelin P0 gene and uncompaction of the major dense line of the myelin sheath in a severe variant of Charcot-Marie-Tooth disease type 1B.

scientific article published on July 1997

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9168174%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

1 reference

Europe PubMed Central

De novo mutation (Arg98-->Cys) of the myelin P0 gene and uncompaction of the major dense line of the myelin sheath in a severe variant of Charcot-Marie-Tooth disease type 1B (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9168174%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

Atsushi Komiyama

1

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9168174%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

author name string

A Ohnishi

2

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9168174%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

K Izawa

3

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9168174%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

S Yamamori

4

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9168174%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

H Ohashi

5

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3 November 2019

O Hasegawa

6

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3 November 2019

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publication date

1 July 1997

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3 November 2019

number of pages

7

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Journal of the Neurological Sciences

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3 November 2019

149

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3 November 2019

1

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3 November 2019

103-109

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PubMed publication ID

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3 November 2019

Role of myelin Po protein as a homophilic adhesion molecule

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2905400-2

7 January 2021

A rapid method for starting a culture for the establishment of Epstein-Barr virus-transformed human lymphoblastoid cell lines

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2905400-2

7 January 2021

Two divergent types of nerve pathology in patients with different P0 mutations in Charcot-Marie-Tooth disease

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2905400-2

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%2897%2905400-2

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2905400-2

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2905400-2

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2905400-2

7 January 2021

De-novo mutation in hereditary motor and sensory neuropathy type I.

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2905400-2

7 January 2021

Charcot-Marie-Tooth neuropathy related to chromosome 1.

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2905400-2

7 January 2021

Nerve conduction studies in Charcot-Marie-Tooth polyneuropathy associated with a segmental duplication of chromosome 17

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2905400-2

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2905400-2

7 January 2021

Mutations in the myelin protein zero gene associated with Charcot-Marie-Tooth disease type 1B

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2905400-2

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2905400-2

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2905400-2

7 January 2021

Linkage and mutation analysis in an extended family with Charcot-Marie-Tooth disease type 1B.

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2905400-2

7 January 2021

[A family of hereditary motor and sensory neuropathy type I with a mutation (Arg98-->His) in myelin Po--report on a second Japanese family]

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2905400-2

7 January 2021

The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2905400-2

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%2FS0022-510X%2897%2905400-2

7 January 2021

Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). HMSN Collaborative Research Group

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2905400-2

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2905400-2

7 January 2021

Tomaculous neuropathy in chromosome 1 Charcot-Marie-Tooth syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2905400-2

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%2897%2905400-2

7 January 2021

Uncompacted inner myelin lamellae in inherited tendency to pressure palsy

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2905400-2

7 January 2021

Identifiers

10.1016/S0022-510X(97)05400-2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9168174%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9168174%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

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