(Q48577370)

12 February 2018

title

Molecular and pathological studies in Charcot-Marie-Tooth disease 1A. (English)

1 reference

12 February 2018

author name string

Kosuka N

1

1 reference

12 February 2018

Tachi N

2

1 reference

12 February 2018

Ohya K

3

1 reference

12 February 2018

Chiba S

4

1 reference

12 February 2018

publication date

1 November 1997

1 reference

12 February 2018

published in

Brain and Development

1 reference

12 February 2018

volume

19

1 reference

12 February 2018

issue

7

1 reference

12 February 2018

page(s)

464-468

1 reference

12 February 2018

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

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2897%2900062-4

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%2FS0387-7604%2897%2900062-4

7 January 2021

Duplication within chromosome 17p11.2 in 12 families of French ancestry with Charcot-Marie-Tooth disease type 1a. The French CMT Research Group

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2897%2900062-4

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%2FS0387-7604%2897%2900062-4

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/10.1016%2FS0387-7604%2897%2900062-4

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/10.1016%2FS0387-7604%2897%2900062-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2897%2900062-4

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%2FS0387-7604%2897%2900062-4

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%2FS0387-7604%2897%2900062-4

7 January 2021

DNA deletion associated with hereditary neuropathy with liability to pressure palsies

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2897%2900062-4

7 January 2021

Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2897%2900062-4

7 January 2021

Constant rearrangement of the CMT1A-REP sequences in HNPP patients with a deletion in chromosome 17p11.2: a study of 30 unrelated cases. The French CMT Collaborative Research Group

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2897%2900062-4

7 January 2021

Analysis of the CMT1A-REP repeat: mapping crossover breakpoints in CMT1A and HNPP.

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2897%2900062-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2897%2900062-4

7 January 2021

Elevated expression of messenger RNA for peripheral myelin protein 22 in biopsied peripheral nerves of patients with Charcot-Marie-Tooth disease type 1A

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2897%2900062-4

7 January 2021

Charcot-Marie-Tooth disease type 1A: morphological phenotype of the 17p duplication versus PMP22 point mutations

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2897%2900062-4

7 January 2021

10.1016/S0387-7604(97)00062-4

Identifiers

DOI

1 reference

12 February 2018

release_guqb3z7tvjb2bftfpkcv5wju6u

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/guqb3z7tvjb2bftfpkcv5wju6u

24 November 2022

mapped directly with Wikidata item

1 reference

12 February 2018