(Q37434642)

20 August 2017

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title

Recent advances in the genetics of amyotrophic lateral sclerosis (English)

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amyotrophic lateral sclerosis

20 August 2017

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4

Guy A Rouleau

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Paul N. Valdmanis

object named as

Paul N Valdmanis

series ordinal

1

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Patrick A Dion

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3

object named as

Patrick A Dion

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20 August 2017

2

Hussein Daoud

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20 August 2017

1 May 2009

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Current Neurology and Neuroscience Reports

20 August 2017

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20 August 2017

9

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20 August 2017

198-205

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20 August 2017

3

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https://scigraph.springernature.com/pub.10.1007/s11910-009-0030-9

20 August 2017

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cites work

Paraoxonase promoter and intronic variants modify risk of sporadic amyotrophic lateral sclerosis

1 reference

12 December 2020

ITPR2 as a susceptibility gene in sporadic amyotrophic lateral sclerosis: a genome-wide association study

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12 December 2020

New VAPB deletion variant and exclusion of VAPB mutations in familial ALS.

1 reference

12 December 2020

Phosphorylated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis.

1 reference

12 December 2020

Variants of the elongator protein 3 (ELP3) gene are associated with motor neuron degeneration

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12 December 2020

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

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12 December 2020

DPP6 gene variability confers increased risk of developing sporadic amyotrophic lateral sclerosis in Italian patients

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12 December 2020

Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data

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12 December 2020

Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3.

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12 December 2020

Pathological TDP-43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with SOD1 mutations.

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12 December 2020

A novel locus for familial amyotrophic lateral sclerosis, on chromosome 18q

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12 December 2020

TLS facilitates transport of mRNA encoding an actin-stabilizing protein to dendritic spines

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12 December 2020

TDP43 is a human low molecular weight neurofilament (hNFL) mRNA-binding protein

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12 December 2020

Genetics of familial amyotrophic lateral sclerosis

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12 December 2020

Whole-genome analysis of sporadic amyotrophic lateral sclerosis

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12 December 2020

TDP-43 mutation in familial amyotrophic lateral sclerosis

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12 December 2020

Characterization of amyotrophic lateral sclerosis-linked P56S mutation of vesicle-associated membrane protein-associated protein B (VAPB/ALS8)

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12 December 2020

Identification of two novel loci for dominantly inherited familial amyotrophic lateral sclerosis

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12 December 2020

TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis

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12 December 2020

Overexpression of mutant superoxide dismutase 1 causes a motor axonopathy in the zebrafish

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12 December 2020

Neuropathologic diagnostic and nosologic criteria for frontotemporal lobar degeneration: consensus of the Consortium for Frontotemporal Lobar Degeneration

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12 December 2020

Contribution of TARDBP mutations to sporadic amyotrophic lateral sclerosis.

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12 December 2020

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

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12 December 2020

Two German kindreds with familial amyotrophic lateral sclerosis due to TARDBP mutations

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12 December 2020

Pedigree with frontotemporal lobar degeneration--motor neuron disease and Tar DNA binding protein-43 positive neuropathology: genetic linkage to chromosome 9.

1 reference

12 December 2020

Identification of new ANG gene mutations in a large cohort of Italian patients with amyotrophic lateral sclerosis

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12 December 2020

Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

1 reference

12 December 2020

Angiogenin loss-of-function mutations in amyotrophic lateral sclerosis

1 reference

12 December 2020

Three families with amyotrophic lateral sclerosis and frontotemporal dementia with evidence of linkage to chromosome 9p.

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12 December 2020

A common haplotype within the PON1 promoter region is associated with sporadic ALS.

1 reference

12 December 2020

Linkage of familial amyotrophic lateral sclerosis with frontotemporal dementia to chromosome 9q21-q22

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12 December 2020

Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis

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12 December 2020

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

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12 December 2020

A gene-environment study of the paraoxonase 1 gene and pesticides in amyotrophic lateral sclerosis

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12 December 2020

Mutations of the ANG gene in French patients with sporadic amyotrophic lateral sclerosis

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12 December 2020

Als2 mRNA splicing variants detected in KO mice rescue severe motor dysfunction phenotype in Als2 knock-down zebrafish.

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12 December 2020

Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6

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12 December 2020

Screening for replication of genome-wide SNP associations in sporadic ALS

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12 December 2020

Fusion of CHOP to a novel RNA-binding protein in human myxoid liposarcoma

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12 December 2020

A genome-wide association study of sporadic ALS in a homogenous Irish population.

1 reference

12 December 2020

Paraoxonase cluster polymorphisms are associated with sporadic ALS

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12 December 2020

An immunological epitope selective for pathological monomer-misfolded SOD1 in ALS.

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12 December 2020

TDP-43 in familial and sporadic frontotemporal lobar degeneration with ubiquitin inclusions

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12 December 2020

The RNA binding protein TLS is translocated to dendritic spines by mGluR5 activation and regulates spine morphology.

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12 December 2020

Neuropathy target esterase gene mutations cause motor neuron disease

1 reference

12 December 2020

Linkage of a commoner form of recessive amyotrophic lateral sclerosis to chromosome 15q15-q22 markers

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12 December 2020

Analysis of genome-wide copy number variation in Irish and Dutch ALS populations

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12 December 2020

TDP-43 A315T mutation in familial motor neuron disease

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12 December 2020

hVAPB, the causative gene of a heterogeneous group of motor neuron diseases in humans, is functionally interchangeable with its Drosophila homologue DVAP-33A at the neuromuscular junction

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12 December 2020

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

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12 December 2020

Fusion of the dominant negative transcription regulator CHOP with a novel gene FUS by translocation t(12;16) in malignant liposarcoma

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12 December 2020

Fus deficiency in mice results in defective B-lymphocyte development and activation, high levels of chromosomal instability and perinatal death.

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12 December 2020

Anterior horn cells with abnormal TDP-43 immunoreactivities show fragmentation of the Golgi apparatus in ALS.

1 reference

12 December 2020

Association of paraoxonase gene cluster polymorphisms with ALS in France, Quebec, and Sweden

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12 December 2020

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

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12 December 2020

Copy-number variation in sporadic amyotrophic lateral sclerosis: a genome-wide screen

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12 December 2020

TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

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12 December 2020

Human angiogenin is a neuroprotective factor and amyotrophic lateral sclerosis associated angiogenin variants affect neurite extension/pathfinding and survival of motor neurons.

1 reference

12 December 2020

TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysis

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12 December 2020

Paraoxonase gene polymorphisms and sporadic ALS

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12 December 2020

Wild-type superoxide dismutase acquires binding and toxic properties of ALS-linked mutant forms through oxidation

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12 December 2020

Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis

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12 December 2020

Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis

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12 December 2020

Male sterility and enhanced radiation sensitivity in TLS(-/-) mice

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12 December 2020

Induced ncRNAs allosterically modify RNA-binding proteins in cis to inhibit transcription

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12 December 2020

TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis

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12 December 2020

A locus on chromosome 9p confers susceptibility to ALS and frontotemporal dementia

1 reference

12 December 2020

10.1007/S11910-009-0030-9

Identifiers

DOI

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20 August 2017

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PubMed ID

19348708