(Q72185538)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7728152%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

title

Déjérine-Sottas neuropathy is associated with a de novo PMP22 mutation (English)

1 reference

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24 October 2019

author name string

Valentijn LJ

1

1 reference

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24 October 2019

Ouvrier RA

2

1 reference

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24 October 2019

van den Bosch NH

3

1 reference

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24 October 2019

Bolhuis PA

4

1 reference

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24 October 2019

Baas F

5

1 reference

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24 October 2019

Nicholson GA

6

1 reference

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24 October 2019

publication date

1 January 1995

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24 October 2019

1 reference

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24 October 2019

volume

5

1 reference

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24 October 2019

issue

1

1 reference

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24 October 2019

page(s)

76-80

1 reference

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Onion bulb neuropathy in the trembler mouse: A model of hypertrophic interstitial neuropathy (Dejerine-Sottas) in man

24 October 2019

cites work

1 reference

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7 January 2021

DNA deletion associated with hereditary neuropathy with liability to pressure palsies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050110

7 January 2021

Two new mutants, ‘trembler’ and ‘reeler’, with neurological actions in the house mouse (Mus musculus L.)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050110

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050110

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/10.1002%2FHUMU.1380050110

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/10.1002%2FHUMU.1380050110

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050110

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050110

7 January 2021

Allelic heterogeneity in hereditary motor and sensory neuropathy type Ia (Charcot-Marie-Tooth disease type 1a)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050110

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/10.1002%2FHUMU.1380050110

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050110

7 January 2021

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

1 reference

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7 January 2021

Peripheral myelin protein-22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot-Marie-Tooth 1A.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050110

7 January 2021

A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050110

7 January 2021

THE HYPERTROPHIC FORMS OF HEREDITARY MOTOR AND SENSORY NEUROPATHY

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050110

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/10.1002%2FHUMU.1380050110

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050110

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/10.1002%2FHUMU.1380050110

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/10.1002%2FHUMU.1380050110

7 January 2021

Characterization of a novel peripheral nervous system myelin protein (PMP-22/SR13)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050110

7 January 2021

A leucine-to-proline mutation in the putative first transmembrane domain of the 22-kDa peripheral myelin protein in the trembler-J mouse

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050110

7 January 2021

Trembler mouse carries a point mutation in a myelin gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050110

7 January 2021

The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050110

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/10.1002%2FHUMU.1380050110

7 January 2021

The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050110

7 January 2021

Hereditary motor and sensory neuropathies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050110

7 January 2021

A myelin protein is encoded by the homologue of a growth arrest-specific gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050110

7 January 2021

Identifiers

DOI

10.1002/HUMU.1380050110

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7728152%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

1 reference