(Q34342425)

1 August 2017

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

1 reference

amyotrophic lateral sclerosis

1 August 2017

0 references

0 references

8

Guy A Rouleau

0 references

François Gros-Louis

1

François Gros-Louis

0 references

Jean-Pierre Bouchard

6

Jean-Pierre Bouchard

0 references

Roxanne Larivière

2

Roxanne Larivière

0 references

Vincent Meininger

7

Vincent Meininger

1 reference

1 August 2017

4

Sandra Laurent

1 reference

1 August 2017

9

Jean-Pierre Julien

1 reference

1 August 2017

5

William Camu

1 reference

1 August 2017

3

Geneviève Gowing

1 reference

PubMed ID

15322088

1 August 2017

language of work or name

English

0 references

publication date

17 August 2004

1 reference

Journal of Biological Chemistry

1 August 2017

1 reference

1 August 2017

279

1 reference

1 August 2017

44

1 reference

1 August 2017

45951-45956

1 reference

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

1 August 2017

1 reference

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

1 reference

1 August 2017

1 reference

PubMed ID

15322088