(Q58183784)

1

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Linda J. Valentijn

2

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Marina L. Kennerson

4

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Tara L. Bragg

5

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Robert M. DeKroon

6

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David A. Ross

7

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John D. Pollard

8

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James G. Mcleod

9

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Pieter A. Bolhuis

10

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Annia K. Cherryson

https://scigraph.springernature.com/pub.10.1038/ng0394-263

3

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language of work or name

English

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publication date

March 1994

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published in

Nature Genetics

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volume

6

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issue

3

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page(s)

263-266

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exact match

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cites work

A family with tomaculous neuropathy mimicking Charcot-Marie-Tooth disease

1 reference

https://api.crossref.org/works/10.1038%2FNG0394-263

Trisomy 17p associated with Charcot-Marie-Tooth neuropathy type 1A phenotype: evidence for gene dosage as a mechanism in CMT1A

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0394-263

Charcot-Marie-Tooth Disease Type 1A -- Association with a Spontaneous Point Mutation in the PMP22 Gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0394-263

Recurrent peripheral nerve palsies in a family

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0394-263

7 January 2021

Hereditary neuropathy with liability to pressure palsies. Report of two families and review of the literature

1 reference

https://api.crossref.org/works/10.1038%2FNG0394-263

7 January 2021

Heredofamilial mononeuritis multiplex with brachial predilection.

1 reference

https://api.crossref.org/works/10.1038%2FNG0394-263

7 January 2021

Recurrent brachial plexus neuropathy

1 reference

https://api.crossref.org/works/10.1038%2FNG0394-263

7 January 2021

DNA deletion associated with hereditary neuropathy with liability to pressure palsies

1 reference

https://api.crossref.org/works/10.1038%2FNG0394-263

7 January 2021

Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit

1 reference

https://api.crossref.org/works/10.1038%2FNG0394-263

7 January 2021

Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A

1 reference

https://api.crossref.org/works/10.1038%2FNG0394-263

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/10.1038%2FNG0394-263

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/10.1038%2FNG0394-263

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/10.1038%2FNG0394-263

7 January 2021

Isolation and sequence determination of cDNA encoding PMP-22 (PAS-II/SR13/Gas-3) of human peripheral myelin

1 reference

https://api.crossref.org/works/10.1038%2FNG0394-263

7 January 2021

Nonsense mutations and diminished mRNA levels

1 reference

https://api.crossref.org/works/10.1038%2FNG0394-263

7 January 2021

Peripherin and the vision thing

1 reference

https://api.crossref.org/works/10.1038%2FNG0394-263

7 January 2021

A medley of retinal dystrophies

1 reference

https://api.crossref.org/works/10.1038%2FNG0394-263

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/10.1038%2FNG0394-263

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/10.1038%2FNG0394-263

7 January 2021

Penetrance of the hereditary motor and sensory neuropathy Ia mutation: assessment by nerve conduction studies

1 reference

https://api.crossref.org/works/10.1038%2FNG0394-263

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/10.1038%2FNG0394-263

7 January 2021

Charcot-Marie-Tooth neuropathy type 1A mutation: apparent crossovers with D17S122 are due to a duplication

1 reference

https://api.crossref.org/works/10.1038%2FNG0394-263

7 January 2021