A frameshift deletion in peripherin gene associated with amyotrophic lateral sclerosis (Q34342425)

1 August 2017

title

A frameshift deletion in peripherin gene associated with amyotrophic lateral sclerosis (English)

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amyotrophic lateral sclerosis

1 August 2017

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8

Guy A Rouleau

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François Gros-Louis

1

François Gros-Louis

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Jean-Pierre Bouchard

6

Jean-Pierre Bouchard

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Roxanne Larivière

2

Roxanne Larivière

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Vincent Meininger

7

Vincent Meininger

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1 August 2017

4

Sandra Laurent

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1 August 2017

9

Jean-Pierre Julien

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1 August 2017

5

William Camu

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1 August 2017

3

Geneviève Gowing

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1 August 2017

language of work or name

English

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publication date

17 August 2004

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Journal of Biological Chemistry

1 August 2017

published in

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1 August 2017

volume

279

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1 August 2017

issue

44

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1 August 2017

page(s)

45951-45956

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Amyotrophic lateral sclerosis: Part 1. Clinical features, pathology, and ethical issues in management

1 August 2017

cites work

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https://api.crossref.org/works/10.1074%2FJBC.M408139200

Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M408139200

A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M408139200

The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M408139200

Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M408139200

The first nonsense mutation in alsin results in a homogeneous phenotype of infantile-onset ascending spastic paralysis with bulbar involvement in two siblings

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M408139200

AnALS2gene mutation causes hereditary spastic paraplegia in a Pakistani kindred

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M408139200

Motor neuron degeneration in mice that express a human Cu,Zn superoxide dismutase mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M408139200

An adverse property of a familial ALS-linked SOD1 mutation causes motor neuron disease characterized by vacuolar degeneration of mitochondria

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M408139200

ALS-linked SOD1 mutant G85R mediates damage to astrocytes and promotes rapidly progressive disease with SOD1-containing inclusions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M408139200

Proximal axonal enlargement in motor neuron disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M408139200

A type III intermediate filament gene is expressed in mature neurons

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M408139200

Regulation of peripherin and neurofilament expression in regenerating rat motor neurons

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M408139200

Late onset of motor neurons in mice overexpressing wild-type peripherin

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M408139200

Apoptotic death of neurons exhibiting peripherin aggregates is mediated by the proinflammatory cytokine tumor necrosis factor-alpha

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M408139200

A neurotoxic peripherin splice variant in a mouse model of ALS

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M408139200

Peripherin is not a contributing factor to motor neuron disease in a mouse model of amyotrophic lateral sclerosis caused by mutant superoxide dismutase.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M408139200

Intermediate filament protein domain interactions as revealed by two-hybrid screens

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M408139200

Phosphorylation of the head domain of neurofilament protein (NF-M): a factor regulating topographic phosphorylation of NF-M tail domain KSP sites in neurons

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M408139200

Reduced number of unmyelinated sensory axons in peripherin null mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M408139200

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/10.1074%2FJBC.M408139200

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/10.1074%2FJBC.M408139200

Deletions of the heavy neurofilament subunit tail in amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M408139200

21 January 2018

Identifiers

DOI

10.1074/JBC.M408139200

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1 August 2017

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