TARDBP and FUS mutations associated with amyotrophic lateral sclerosis: summary and update (Q38096349)

28 August 2017

title

TARDBP and FUS mutations associated with amyotrophic lateral sclerosis: summary and update (English)

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amyotrophic lateral sclerosis

28 August 2017

main subject

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Guy A Rouleau

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Serena Lattante

series ordinal

object named as

Serena Lattante

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28 August 2017

Edor Kabashi

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28 August 2017

language of work or name

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29 April 2013

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28 August 2017

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28 August 2017

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28 August 2017

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28 August 2017

page(s)

812-826

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TDP-43 immunoreactivity in hippocampal sclerosis and Alzheimer's disease

28 August 2017

cites work

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Mutant FUS proteins that cause amyotrophic lateral sclerosis incorporate into stress granules

21 January 2018

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TDP-43 binds heterogeneous nuclear ribonucleoprotein A/B through its C-terminal tail: an important region for the inhibition of cystic fibrosis transmembrane conductance regulator exon 9 splicing

21 January 2018

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Multiple roles of TDP-43 in gene expression, splicing regulation, and human disease.

21 January 2018

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Two Italian kindreds with familial amyotrophic lateral sclerosis due to FUS mutation

21 January 2018

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Large proportion of amyotrophic lateral sclerosis cases in Sardinia due to a single founder mutation of the TARDBP gene

21 January 2018

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A de novo missense mutation of the FUS gene in a "true" sporadic ALS case

21 January 2018

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Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS.

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22319

TDP-43 is recruited to stress granules in conditions of oxidative insult.

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22319

P525L FUS mutation is consistently associated with a severe form of juvenile amyotrophic lateral sclerosis.

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22319

High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosis.

21 January 2018

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Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21

21 January 2018

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21 January 2018

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Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS

21 January 2018

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21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22319

Cytoplasmic accumulation of TDP-43 in circulating lymphomonocytes of ALS patients with and without TARDBP mutations

21 January 2018

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Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22319

The RNA-binding protein FUS/TLS is a common aggregate-interacting protein in polyglutamine diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

Proteolytic processing of TAR DNA binding protein-43 by caspases produces C-terminal fragments with disease defining properties independent of progranulin

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22319

C-terminal FUS/TLS mutations in familial and sporadic ALS in Germany

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

The ALS disease protein TDP-43 is actively transported in motor neuron axons and regulates axon outgrowth.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

Ataxin-2 interacts with FUS and intermediate-length polyglutamine expansions enhance FUS-related pathology in amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

Depletion of TDP-43 affects Drosophila motoneurons terminal synapsis and locomotive behavior

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

Knockdown of transactive response DNA-binding protein (TDP-43) downregulates histone deacetylase 6

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22319

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21 January 2018

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TDP-43: a novel neurodegenerative proteinopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

Plasma phosphorylated-TDP-43 protein levels correlate with brain pathology in frontotemporal lobar degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

Global analysis of TDP-43 interacting proteins reveals strong association with RNA splicing and translation machinery.

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22319

TLS-GFP cannot rescue mRNP formation near spines and spine phenotype in TLS-KO.

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22319

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

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22319

FUS mutations in familial amyotrophic lateral sclerosis in the Netherlands.

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22319

TDP-43 is not a common cause of sporadic amyotrophic lateral sclerosis

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22319

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

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22319

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/10.1002%2FHUMU.22319

Ubiquilin modifies TDP-43 toxicity in a Drosophila model of amyotrophic lateral sclerosis (ALS).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

Novel FUS/TLS mutations and pathology in familial and sporadic amyotrophic lateral sclerosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

Focal loss of the glutamate transporter EAAT2 in a transgenic rat model of SOD1 mutant-mediated amyotrophic lateral sclerosis (ALS).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

Biomarkers in frontotemporal lobar degenerations--progress and challenges

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

TDP-43 depletion induces neuronal cell damage through dysregulation of Rho family GTPases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

Exome sequencing reveals VCP mutations as a cause of familial ALS

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

Failure of protein quality control in amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

Oxidized/misfolded superoxide dismutase-1: the cause of all amyotrophic lateral sclerosis?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

Gain and loss of function of ALS-related mutations of TARDBP (TDP-43) cause motor deficits in vivo

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

FUS and TARDBP but not SOD1 interact in genetic models of amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

Amyotrophic lateral sclerosis-associated proteins TDP-43 and FUS/TLS function in a common biochemical complex to co-regulate HDAC6 mRNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

The tip of the iceberg: RNA-binding proteins with prion-like domains in neurodegenerative disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

Broad clinical phenotypes associated with TAR-DNA binding protein (TARDBP) mutations in amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

TARDBP variation associated with frontotemporal dementia, supranuclear gaze palsy, and chorea.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

Loss of murine TDP-43 disrupts motor function and plays an essential role in embryogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

Screening of the SOD1, FUS, TARDBP, ANG, and OPTN mutations in Korean patients with familial and sporadic ALS

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

Rethinking ALS: the FUS about TDP-43.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

FUS mutations in sporadic amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

Progranulin is neurotrophic in vivo and protects against a mutant TDP-43 induced axonopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

VEGF is a modifier of amyotrophic lateral sclerosis in mice and humans and protects motoneurons against ischemic death

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

A century-old debate on protein aggregation and neurodegeneration enters the clinic

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

A Drosophila model of FUS-related neurodegeneration reveals genetic interaction between FUS and TDP-43.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

TDP-43 M311V mutation in familial amyotrophic lateral sclerosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

A Drosophila model for TDP-43 proteinopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

Neuronal function and dysfunction of Drosophila dTDP

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

ALS-associated mutations in TDP-43 increase its stability and promote TDP-43 complexes with FUS/TLS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

Incidence of amyotrophic lateral sclerosis in Europe

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

The overlap of amyotrophic lateral sclerosis and frontotemporal dementia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

TDP-43 and FUS in amyotrophic lateral sclerosis and frontotemporal dementia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

Mutations of optineurin in amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

Exome sequencing identifies FUS mutations as a cause of essential tremor

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

Both cytoplasmic and nuclear accumulations of the protein are neurotoxic in Drosophila models of TDP-43 proteinopathies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

Accumulation of insoluble forms of FUS protein correlates with toxicity in Drosophila

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

Overexpression of human wild-type FUS causes progressive motor neuron degeneration in an age- and dose-dependent fashion

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

Familial ALS with FUS P525L mutation: two Japanese sisters with multiple systems involvement.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

Wide phenotypic spectrum of the TARDBP gene: homozygosity of A382T mutation in a patient presenting with amyotrophic lateral sclerosis, Parkinson's disease, and frontotemporal lobar degeneration, and in neurologically healthy subject.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

Co-morbidity of TDP-43 proteinopathy in Lewy body related diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

Roles of ataxin-2 in pathological cascades mediated by TAR DNA-binding protein 43 (TDP-43) and Fused in Sarcoma (FUS)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

Characterization of alternative isoforms and inclusion body of the TAR DNA-binding protein-43.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

Familial ALS with G298S mutation in TARDBP: a comparison of CSF tau protein levels with those in sporadic ALS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

High frequency of the TARDBP p.Ala382Thr mutation in Sardinian patients with amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

Genetic analysis of the FUS/TLS gene in essential tremor

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

Molecular biology of amyotrophic lateral sclerosis: insights from genetics

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

Long pre-mRNA depletion and RNA missplicing contribute to neuronal vulnerability from loss of TDP-43.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

Co-occurrence of progressive anarthria with an S393L TARDBP mutation and ALS within a family

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

The syndrome of cognitive impairment in amyotrophic lateral sclerosis: a population-based study

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

Broadening the phenotype of TARDBP mutations: the TARDBP Ala382Thr mutation and Parkinson’s disease in Sardinia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

Fus gene mutations in familial and sporadic amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

TARDBP mutations in Parkinson's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

Prevalence and patterns of cognitive impairment in sporadic ALS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

TDP-43 mediates degeneration in a novel Drosophila model of disease caused by mutations in VCP/p97.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

A novel double mutation in FUS gene causing sporadic ALS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

Drosophila Answers to TDP-43 Proteinopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

Current hypotheses for the underlying biology of amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

Pathogenicity of exonic indels in fused in sarcoma in amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

Colocalization of transactivation-responsive DNA-binding protein 43 and huntingtin in inclusions of Huntington disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

TDP-43 is a developmentally regulated protein essential for early embryonic development

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

Altered distributions of Gemini of coiled bodies and mitochondria in motor neurons of TDP-43 transgenic mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

Missense mutations in the progranulin gene linked to frontotemporal lobar degeneration with ubiquitin-immunoreactive inclusions reduce progranulin production and secretion.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

How do ALS-associated mutations in superoxide dismutase 1 promote aggregation of the protein?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

Motor-neuron disease: Rogue gene in the family

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

Mutation in the tau gene in familial multiple system tauopathy with presenile dementia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

TDP-43 in cerebrospinal fluid of patients with frontotemporal lobar degeneration and amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

The syndromes of frontotemporal dysfunction in amyotrophic lateral sclerosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

Pathological hallmarks of amyotrophic lateral sclerosis/frontotemporal lobar degeneration in transgenic mice produced with TDP-43 genomic fragments

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

TDP-43 M337V mutation in familial amyotrophic lateral sclerosis in Japan

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

Analysis of FUS gene mutation in familial amyotrophic lateral sclerosis within an Italian cohort

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

Mutational analysis of TARDBP in neurodegenerative diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

Arginine methylation by PRMT1 regulates nuclear-cytoplasmic localization and toxicity of FUS/TLS harbouring ALS-linked mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

FUS, TARDBP, and SOD1 mutations in a Taiwanese cohort with familial ALS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

Non-human primate model of amyotrophic lateral sclerosis with cytoplasmic mislocalization of TDP-43

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

TDP-1/TDP-43 regulates stress signaling and age-dependent proteotoxicity in Caenorhabditis elegans

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia: can we learn from other noncoding repeat expansion disorders?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

Evidence for an oligogenic basis of amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

Genetic contribution of FUS to frontotemporal lobar degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

TDP-43 plasma levels are higher in amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

TDP-43-mediated neuron loss in vivo requires RNA-binding activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

Higher order arrangement of the eukaryotic nuclear bodies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

Structural diversity and functional implications of the eukaryotic TDP gene family

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

TDP-43, the signature protein of FTLD-U, is a neuronal activity-responsive factor

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

TDP-43 mutant transgenic mice develop features of ALS and frontotemporal lobar degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

TDP-43 accumulation in inclusion body myopathy muscle suggests a common pathogenic mechanism with frontotemporal dementia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

A novel TARDBP mutation in an Australian amyotrophic lateral sclerosis kindred.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

TDP-43 transgenic mice develop spastic paralysis and neuronal inclusions characteristic of ALS and frontotemporal lobar degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

A90V TDP-43 variant results in the aberrant localization of TDP-43 in vitro

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

Association between novel TARDBP mutations and Chinese patients with amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

Wild-type human TDP-43 expression causes TDP-43 phosphorylation, mitochondrial aggregation, motor deficits, and early mortality in transgenic mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

A Japanese ALS6 family with mutation R521C in the FUS/TLS gene: a clinical, pathological and genetic report.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

FUS-SMN protein interactions link the motor neuron diseases ALS and SMA

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

Frameshift and novel mutations in FUS in familial amyotrophic lateral sclerosis and ALS/dementia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

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/10.1002%2FHUMU.22319

TDP-43 mutation in familial amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

Progranulin mediates caspase-dependent cleavage of TAR DNA binding protein-43.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

Aberrant cleavage of TDP-43 enhances aggregation and cellular toxicity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

De novo FUS gene mutations are associated with juvenile-onset sporadic amyotrophic lateral sclerosis in China.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

Elevated CSF TDP-43 levels in amyotrophic lateral sclerosis: Specificity, sensitivity, and a possible prognostic value

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

The occurrence of mutations inFUSin a Belgian cohort of patients with familial ALS

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

Neuronal inclusion protein TDP-43 has no primary genetic role in FTD and ALS

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

SOD1, ANG, TARDBP and FUS mutations in amyotrophic lateral sclerosis: A United States clinical testing lab experience

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

Clinical heterogeneity in Italian patients with amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

Rapid voice tremor, or "flutter," in amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

7 January 2021

Identification of a FUS splicing mutation in a large family with amyotrophic lateral sclerosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

7 January 2021

TARDBP gene mutations in south Italian patients with amyotrophic lateral sclerosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

7 January 2021

Mutations of FUS gene in sporadic amyotrophic lateral sclerosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

7 January 2021

Contribution of TARDBP mutations to sporadic amyotrophic lateral sclerosis.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

7 January 2021

Association of Long ATXN2 CAG Repeat Sizes With Increased Risk of Amyotrophic Lateral Sclerosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

7 January 2021

Different clinical and neuropathologic phenotypes of familial ALS with A315E TARDBP mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

7 January 2021

Progranulin locus deletion in frontotemporal dementia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

7 January 2021

Lower motor neuron disease caused by a novel FUS/TLS gene frameshift mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

7 January 2021

TARDBP gene mutations among Chinese patients with sporadic amyotrophic lateral sclerosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

7 January 2021

Large-scale screening of TARDBP mutation in amyotrophic lateral sclerosis in Japanese

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

7 January 2021

Increased TDP-43 protein in cerebrospinal fluid of patients with amyotrophic lateral sclerosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

7 January 2021

hnRNP A1 functions with specificity in repression of SMN2 exon 7 splicing

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

7 January 2021

Contribution of major amyotrophic lateral sclerosis genes to the etiology of sporadic disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

7 January 2021

Progranulin null mutations in both sporadic and familial frontotemporal dementia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

7 January 2021

SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

7 January 2021

Divergent patterns of cytosolic TDP-43 and neuronal progranulin expression following axotomy: implications for TDP-43 in the physiological response to neuronal injury

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

7 January 2021

Enlarging clinical spectrum of FALS with TARDBP gene mutations: S393L variant in an Italian family showing phenotypic variability and relevance for genetic counselling

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

7 January 2021

Cloning and characterization of a novel cellular protein, TDP-43, that binds to human immunodeficiency virus type 1 TAR DNA sequence motifs

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

7 January 2021

A novelTARDBPinsertion/deletion mutation in the flail arm variant of amyotrophic lateral sclerosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

7 January 2021

FUS mutations in sporadic amyotrophic lateral sclerosis: Clinical and genetic analysis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

7 January 2021

FUS/TLS gene mutations are the second most frequent cause of familial ALS in the Spanish population

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

7 January 2021

SMN genotypes producing less SMN protein increase susceptibility to and severity of sporadic ALS

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

7 January 2021

Novel missense and truncating mutations in FUS/TLS in familial ALS

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

7 January 2021

Screening of the TARDBP gene in familial and sporadic amyotrophic lateral sclerosis patients of Chinese origin

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

7 January 2021

Screening of the FUS gene in familial and sporadic amyotrophic lateral sclerosis patients of Chinese origin

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22319

7 January 2021

Identifiers

DOI

10.1002/HUMU.22319

1 reference

release_gxm7bebjtrfhnf56ecpn773dpq

28 August 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/gxm7bebjtrfhnf56ecpn773dpq

24 November 2022

mapped directly with Wikidata item

1 reference