Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E. (Q33935585)

30 July 2017

title

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

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Christine Van Broeckhoven

30 July 2017

author

6

object named as

Van Broeckhoven C

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30 July 2017

De Jonghe P

1

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30 July 2017

Mersivanova I

2

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30 July 2017

Nelis E

3

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30 July 2017

Del Favero J

4

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30 July 2017

Martin JJ

5

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30 July 2017

Evgrafov O

7

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30 July 2017

Timmerman V

8

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30 July 2017

publication date

1 February 2001

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30 July 2017

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30 July 2017

volume

49

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30 July 2017

issue

2

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30 July 2017

page(s)

245-249

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

30 July 2017

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

21 January 2018

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Autosomal dominant Charcot-Marie-Tooth axonal neuropathy mapped on chromosome 7p (CMT2D).

21 January 2018

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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

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Axonal Charcot-Marie-Tooth disease and the neurofilament light gene (NF-L)

21 January 2018

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Neurofilament functions in health and disease

21 January 2018

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The structure of a human neurofilament gene (NF-L): a unique exon-intron organization in the intermediate filament gene family

21 January 2018

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Neurofilament deficiency in quail caused by nonsense mutation in neurofilament-L gene

21 January 2018

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Delayed maturation of regenerating myelinated axons in mice lacking neurofilaments

21 January 2018

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

21 January 2018

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Transgenic mice in the study of ALS: the role of neurofilaments.

21 January 2018

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Localization of a Gene (CMT2A) for Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 to Chromosome 1p and Evidence of Genetic Heterogeneity

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Variants of the heavy neurofilament subunit are associated with the development of amyotrophic lateral sclerosis

21 January 2018

1 reference

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Novel insertion in the KSP region of the neurofilament heavy gene in amyotrophic lateral sclerosis (ALS)

21 January 2018

1 reference

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10.1002/1531-8249(20010201)49:2<245::AID-ANA45>3.0.CO;2-A

21 January 2018

Identifiers

DOI

1 reference

30 July 2017

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