(Q74441956)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11528513%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

title

A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2F) maps to chromosome 7q11-q21 (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11528513%20AND%20SRC:MED&resulttype=core&format=json

Charcot-Marie-Tooth disease type 2

10 November 2019

main subject

1 reference

Christine Van Broeckhoven

inferred from title

author

5

object named as

Van Broeckhoven C

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11528513%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

author name string

Ismailov SM

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11528513%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

Fedotov VP

2

1 reference

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10 November 2019

Dadali EL

3

1 reference

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10 November 2019

Polyakov AV

4

1 reference

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10 November 2019

Ivanov VI

6

1 reference

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10 November 2019

De Jonghe P

7

1 reference

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10 November 2019

Timmerman V

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11528513%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

Evgrafov OV

9

1 reference

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10 November 2019

publication date

1 August 2001

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11528513%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

10 November 2019

published in

1 reference

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10 November 2019

volume

9

1 reference

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10 November 2019

issue

8

1 reference

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10 November 2019

page(s)

646-650

1 reference

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https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5200686

10 November 2019

exact match

0 references

cites work

A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200686

7 January 2021

Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200686

7 January 2021

N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200686

7 January 2021

Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200686

7 January 2021

Periaxin mutations cause recessive Dejerine-Sottas neuropathy

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200686

7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5200686

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11528513%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

1 reference