(Q57624287)

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Charcot–Marie–Tooth disease

11 September 2022

main subject

1 reference

1 reference

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11 September 2022

3

Van Hul W

1 reference

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11 September 2022

9

Leach RJ

1 reference

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11 September 2022

10

Hanemann CO

1 reference

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11 September 2022

author name string

B.W. Nieuwenhuijsen

4

0 references

K.L. Chen

5

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R.J. Leach

9

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C.O. Hanemann

10

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P. De Jonghe

11

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P. Raeymaekers

12

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G-J.B. van Ommen

13

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J-J. Martin

14

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H.W. Müller

15

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J.M. Vance

16

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K.H. Fischbeck

17

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C. Van Broeckhoven

18

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Timmerman V

1

1 reference

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11 September 2022

Nelis E

2

1 reference

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11 September 2022

Nieuwenhuijsen BW

4

1 reference

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11 September 2022

Chen KL

5

1 reference

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11 September 2022

Wang S

6

1 reference

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11 September 2022

Ben Othman K

7

1 reference

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11 September 2022

Cullen B

8

1 reference

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https://scigraph.springernature.com/pub.10.1038/ng0692-171

11 September 2022

language of work or name

English

0 references

publication date

June 1992

0 references

published in

Nature Genetics

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volume

1

0 references

issue

3

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page(s)

171-175

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exact match

0 references

cites work

Population frequencies of inherited neuromuscular diseases—A world survey

1 reference

https://api.crossref.org/works/10.1038%2FNG0692-171

Trembler mouse carries a point mutation in a myelin gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0692-171

A growth arrest-specific (gas) gene codes for a membrane protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0692-171

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0692-171

Hereditary motor and sensory neuropathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0692-171

7 January 2021

Genetic aspects of hereditary motor and sensory neuropathy (types I and II)

1 reference

https://api.crossref.org/works/10.1038%2FNG0692-171

7 January 2021

Chromosome 1 Charcot-Marie-Tooth disease (CMT1B) locus in the Fc? receptor gene region

1 reference

https://api.crossref.org/works/10.1038%2FNG0692-171

7 January 2021

Localization of Charcot-Marie-Tooth disease type 1a (CMT1A) to chromosome 17p11.2.

1 reference

https://api.crossref.org/works/10.1038%2FNG0692-171

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0692-171

7 January 2021

The duplication in Charcot-Marie-Tooth disease type 1a spans at least 1100 kb on chromosome 17p11.2

1 reference

https://api.crossref.org/works/10.1038%2FNG0692-171

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/10.1038%2FNG0692-171

7 January 2021

De novo partial duplication of 17p [dup(17)(p12----p11.2)]: clinical report.

1 reference

https://api.crossref.org/works/10.1038%2FNG0692-171

7 January 2021

De novo tandem duplication 17p11 leads to cen.

1 reference

https://api.crossref.org/works/10.1038%2FNG0692-171

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0692-171

7 January 2021

Abnormal myelination in transplanted Trembler mouse Schwann cells

1 reference

https://api.crossref.org/works/10.1038%2FNG0692-171

7 January 2021

Long lives for homozygous trembler mutant mice despite virtual absence of peripheral nerve myelin

1 reference

https://api.crossref.org/works/10.1038%2FNG0692-171

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0692-171

7 January 2021

Localization of growth arrest-specific genes on mouse chromosomes 1, 7, 8, 11, 13, and 16.

1 reference

https://api.crossref.org/works/10.1038%2FNG0692-171

7 January 2021

Two NF1 translocations map within a 600-kilobase segment of 17q11.2.

1 reference

https://api.crossref.org/works/10.1038%2FNG0692-171

7 January 2021

Pelizaeus-Merzbacher disease: a valine to phenylalanine point mutation in a putative extracellular loop of myelin proteolipid

1 reference

https://api.crossref.org/works/10.1038%2FNG0692-171

7 January 2021

Regional mapping panel for human chromosome 17: application to neurofibromatosis type 1.

1 reference

https://api.crossref.org/works/10.1038%2FNG0692-171

7 January 2021

Separation of large DNA molecules by contour-clamped homogeneous electric fields

1 reference

https://api.crossref.org/works/10.1038%2FNG0692-171

7 January 2021

https://api.crossref.org/works/10.1038%2FNG0692-171

1 reference

7 January 2021

Generation and fluorescent in situ hybridization mapping of yeast artificial chromosomes of 1p, 17p, 17q, and 19q from a hybrid cell line by high-density screening of an amplified library

1 reference

https://api.crossref.org/works/10.1038%2FNG0692-171

7 January 2021

Identifiers

DOI

10.1038/NG0692-171

0 references