(Q55671003)

3

0 references

J E Hoogendijk

4

0 references

N H van den Bosch

5

0 references

A W Gabreëls-Festen

7

0 references

M de Visser

8

0 references

P A Bolhuis

9

0 references

Valentijn LJ

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1303281

11 September 2022

Baas F

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1303281

11 September 2022

Wolterman RA

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1303281

11 September 2022

Hoogendijk JE

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1303281

11 September 2022

van den Bosch NH

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1303281

11 September 2022

Zorn I

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1303281

11 September 2022

Gabreëls-Festen AW

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1303281

11 September 2022

de Visser M

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1303281

11 September 2022

Bolhuis PA

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1303281

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

11 September 2022

language of work or name

English

0 references

publication date

December 1992

0 references

published in

Nature Genetics

0 references

volume

2

0 references

issue

4

0 references

page(s)

288-91

0 references

cites work

1 reference

https://api.crossref.org/works/10.1038%2FNG1292-288

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1292-288

Trembler mouse carries a point mutation in a myelin gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1292-288

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1292-288

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1292-288

Enzymatic activity of a synthetic 99 residue protein corresponding to the putative HIV-1 protease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1292-288

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1292-288

Uncoupling of hypomyelination and glial cell death by a mutation in the proteolipid protein gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1292-288

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1292-288

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%2FNG1292-288

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1292-288

7 January 2021

Linkage of Charcot-Marie-Tooth neuropathy type 1a to chromosome 17

1 reference

https://api.crossref.org/works/10.1038%2FNG1292-288

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%2FNG1292-288

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%2FNG1292-288

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1292-288

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%2FNG1292-288

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%2FNG1292-288

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/10.1038%2FNG1292-288

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%2FNG1292-288

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/10.1038%2FNG1292-288

7 January 2021

Genes specifically expressed at growth arrest of mammalian cells

1 reference

https://api.crossref.org/works/10.1038%2FNG1292-288

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%2FNG1292-288

7 January 2021

Mutation of the proteolipid protein gene PLP in a human X chromosome-linked myelin disorder

1 reference

https://api.crossref.org/works/10.1038%2FNG1292-288

7 January 2021

An interstitial duplication of the X chromosome in a male allows physical fine mapping of probes from the Xq13-q22 region

1 reference

https://api.crossref.org/works/10.1038%2FNG1292-288

7 January 2021

Prediction of protein conformation

1 reference

https://api.crossref.org/works/10.1038%2FNG1292-288

7 January 2021

Early morphological features in dominantly inherited demyelinating motor and sensory neuropathy (HMSN type I)

1 reference

https://api.crossref.org/works/10.1038%2FNG1292-288

7 January 2021

Dimensions Publication ID

Identifiers

DOI

10.1038/NG1292-288

0 references

1030313048

0 references