(Q36575025)

15 August 2017

1 reference

title

Genetics of motor neuron disease (English)

1 reference

15 August 2017

Ludo Van Den Bosch

1

1 reference

15 August 2017

Vincent Timmerman

series ordinal

2

1 reference

15 August 2017

publication date

1 September 2006

1 reference

Current Neurology and Neuroscience Reports

15 August 2017

published in

1 reference

15 August 2017

volume

6

1 reference

15 August 2017

issue

5

1 reference

15 August 2017

page(s)

423-431

1 reference

https://scigraph.springernature.com/pub.10.1007/s11910-996-0024-9

15 August 2017

exact match

0 references

cites work

A novel candidate region for ALS on chromosome 14q11.2.

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS11910-996-0024-9

Lentiviral-mediated silencing of SOD1 through RNA interference retards disease onset and progression in a mouse model of ALS.

21 January 2018

1 reference

12 December 2020

From snails to sciatic nerve: Retrograde injury signaling from axon to soma in lesioned neurons.

1 reference

12 December 2020

Defective neurofilament transport in mouse models of amyotrophic lateral sclerosis: a review

1 reference

12 December 2020

Autosomal dominant juvenile amyotrophic lateral sclerosis.

1 reference

12 December 2020

The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type V.

1 reference

12 December 2020

The first ALS2 missense mutation associated with JPLS reveals new aspects of alsin biological function

1 reference

12 December 2020

Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy

1 reference

12 December 2020

Is spinal muscular atrophy the result of defects in motor neuron processes?

1 reference

12 December 2020

Axonal defects in mouse models of motoneuron disease

1 reference

12 December 2020

Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1

1 reference

12 December 2020

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

1 reference

12 December 2020

A common founder for amyotrophic lateral sclerosis type 8 (ALS8) in the Brazilian population

1 reference

12 December 2020

A mutation in the small heat-shock protein HSPB1 leading to distal hereditary motor neuronopathy disrupts neurofilament assembly and the axonal transport of specific cellular cargoes.

1 reference

12 December 2020

Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2.

1 reference

12 December 2020

Autosomal dominant juvenile amyotrophic lateral sclerosis and distal hereditary motor neuronopathy with pyramidal tract signs: synonyms for the same disorder?

1 reference

12 December 2020

Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome

1 reference

12 December 2020

A dynein mutation attenuates motor neuron degeneration in SOD1(G93A) mice

1 reference

12 December 2020

The Ribonucleolytic Activity of Angiogenin†

1 reference

12 December 2020

Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13.

1 reference

12 December 2020

Alsin is partially associated with centrosome in human cells

1 reference

12 December 2020

Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.

1 reference

12 December 2020

Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy

1 reference

12 December 2020

A mutation in dynein rescues axonal transport defects and extends the life span of ALS mice

1 reference

12 December 2020

Co-regulation of survival of motor neuron (SMN) protein and its interactor SIP1 during development and in spinal muscular atrophy

1 reference

12 December 2020

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

1 reference

12 December 2020

Mutant dynactin in motor neuron disease.

1 reference

12 December 2020

A motor neuron disease-associated mutation in p150Glued perturbs dynactin function and induces protein aggregation

1 reference

12 December 2020

Virus-delivered small RNA silencing sustains strength in amyotrophic lateral sclerosis

1 reference

12 December 2020

Transgenic Small Interfering RNA Halts Amyotrophic Lateral Sclerosis in a Mouse Model

1 reference

12 December 2020

A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10)

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

Inhibition of SOD1 expression by mitomycin C is a non-specific consequence of cellular toxicity

1 reference

12 December 2020

DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4)

1 reference

12 December 2020

Drosophila VAP-33A directs bouton formation at neuromuscular junctions in a dosage-dependent manner

1 reference

12 December 2020

Mutations in dynein link motor neuron degeneration to defects in retrograde transport

1 reference

12 December 2020

Slowing of axonal transport is a very early event in the toxicity of ALS-linked SOD1 mutants to motor neurons

1 reference

12 December 2020

Silencing mutant SOD1 using RNAi protects against neurodegeneration and extends survival in an ALS model

1 reference

12 December 2020

Mouse VAP33 is associated with the endoplasmic reticulum and microtubules

1 reference

12 December 2020

The rat ortholog of the presumptive flounder antifreeze enhancer-binding protein is a helicase domain-containing protein.

1 reference

12 December 2020

Mutation analysis of the small heat shock protein 27 gene in chinese patients with Charcot-Marie-Tooth disease

1 reference

12 December 2020

ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis.

1 reference

12 December 2020

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

1 reference

12 December 2020

Spinal muscular atrophy: a deficiency in a ubiquitous protein; a motor neuron-specific disease

1 reference

12 December 2020

Disruption of dynein/dynactin inhibits axonal transport in motor neurons causing late-onset progressive degeneration.

1 reference

12 December 2020

Mice deficient in the Rab5 guanine nucleotide exchange factor ALS2/alsin exhibit age-dependent neurological deficits and altered endosome trafficking

1 reference

12 December 2020

A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis

1 reference

12 December 2020

Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy

1 reference

12 December 2020

ALS2/Alsin regulates Rac-PAK signaling and neurite outgrowth

1 reference

12 December 2020

Identification of the mouse neuromuscular degeneration gene and mapping of a second site suppressor allele

1 reference

12 December 2020

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

1 reference

12 December 2020

Unraveling the genetics of distal hereditary motor neuronopathies

1 reference

12 December 2020

Identification and characterization of a spinal muscular atrophy-determining gene

1 reference

12 December 2020

Loss of ALS2 function is insufficient to trigger motor neuron degeneration in knock-out mice but predisposes neurons to oxidative stress

1 reference

12 December 2020

Inactivation of the survival motor neuron gene, a candidate gene for human spinal muscular atrophy, leads to massive cell death in early mouse embryos

1 reference

12 December 2020

Seipin: a mysterious protein

1 reference

12 December 2020

Motor neurons in Cu/Zn superoxide dismutase-deficient mice develop normally but exhibit enhanced cell death after axonal injury

1 reference

12 December 2020

10.1007/S11910-996-0024-9

Identifiers

DOI

1 reference

release_2dyoycomsfc3pfdp2sq6rukqai

15 August 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/2dyoycomsfc3pfdp2sq6rukqai

24 November 2022

mapped directly with Wikidata item

1 reference