(Q40240117)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16930284%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

title

Is a novel I214M substitution in the NEFL gene a cause of Charcot-Marie-Tooth disease? Functional analysis using cell culture models (English)

1 reference

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29 December 2019

7

1 reference

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Irena Hausmanowa-Petrusewicz

29 December 2019

6

object named as

Irena Hausmanowa-Petrusewicz

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16930284%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

1

Dagmara Kabzińska

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16930284%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

4

Hanna Drac

1 reference

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29 December 2019

5

Barbara Ryniewicz

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16930284%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

author name string

Raul Perez-Olle

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16930284%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

Dmitry Goryunov

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16930284%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

Ronald K H Liem

8

1 reference

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29 December 2019

publication date

1 September 2006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16930284%20AND%20SRC:MED&resulttype=core&format=json

Journal of the Peripheral Nervous System

29 December 2019

published in

1 reference

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29 December 2019

volume

11

1 reference

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29 December 2019

issue

3

1 reference

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29 December 2019

page(s)

225-231

1 reference

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

29 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1529-8027.2006.00092.X

Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1529-8027.2006.00092.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1529-8027.2006.00092.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1529-8027.2006.00092.X

Mutation analysis of the neurofilament M gene in Parkinson's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1529-8027.2006.00092.X

A mutation in the human neurofilament M gene in Parkinson's disease that suggests a role for the cytoskeleton in neuronal degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1529-8027.2006.00092.X

Molecular biology of neuronal intermediate filaments

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1529-8027.2006.00092.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1529-8027.2006.00092.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1529-8027.2006.00092.X

Mutations in the neurofilament light gene linked to Charcot-Marie-Tooth disease cause defects in transport

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1529-8027.2006.00092.X

The G336S variant in the human neurofilament-M gene does not affect its assembly or distribution: importance of the functional analysis of neurofilament variants

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1529-8027.2006.00092.X

Regulated expression of vimentin cDNA in cells in the presence and absence of a preexisting vimentin filament network

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1529-8027.2006.00092.X

Delayed maturation of regenerating myelinated axons in mice lacking neurofilaments

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1529-8027.2006.00092.X

The novel neurofilament light (NEFL) mutation Glu397Lys is associated with a clinically and morphologically heterogeneous type of Charcot-Marie-Tooth neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1529-8027.2006.00092.X

A novel NF-L mutation Pro22Ser is associated with CMT2 in a large Slovenian family

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1529-8027.2006.00092.X