(Q81282817)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15654615%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

title

A novel out-of-frame mutation in the neurofilament light chain gene (NEFL) does not result in Charcot-Marie-Tooth disease type 2E (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15654615%20AND%20SRC:MED&resulttype=core&format=json

Charcot-Marie-Tooth disease type 2E

7 January 2020

main subject

1 reference

5

1 reference

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7 January 2020

Corrado Angelini

6

1 reference

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7 January 2020

3

Paola Prandini

1 reference

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7 January 2020

author name string

Cinzia Andrigo

1

1 reference

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7 January 2020

Chiara Boito

2

1 reference

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7 January 2020

Maria Luisa Mostacciuolo

4

1 reference

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7 January 2020

Elena Pegoraro

7

1 reference

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7 January 2020

publication date

15 January 2005

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7 January 2020

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7 January 2020

volume

6

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7 January 2020

issue

1

1 reference

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7 January 2020

page(s)

49-50

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https://scigraph.springernature.com/pub.10.1007/s10048-004-0202-3

7 January 2020

exact match

0 references

cites work

Effects of Charcot-Marie-Tooth-linked mutations of the neurofilament light subunit on intermediate filament formation

1 reference

12 December 2020

Delayed maturation of regenerating myelinated axons in mice lacking neurofilaments

1 reference

12 December 2020

A mutant neurofilament subunit causes massive, selective motor neuron death: implications for the pathogenesis of human motor neuron disease

1 reference

12 December 2020

A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance

1 reference

12 December 2020

Charcot-Marie-Tooth disease neurofilament mutations disrupt neurofilament assembly and axonal transport.

1 reference

12 December 2020

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

1 reference

12 December 2020

Neurofilament functions in health and disease

1 reference

12 December 2020

Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease.

1 reference

12 December 2020

10.1007/S10048-004-0202-3

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15654615%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

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