Broad clinical phenotypes associated with TAR-DNA binding protein (TARDBP) mutations in amyotrophic lateral sclerosis (Q45144138)

10 December 2017

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

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amyotrophic lateral sclerosis

10 December 2017

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author

Janine Kirby

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11

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Emily F Goodall

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author name string

William Smith

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J Robin Highley

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Rudo Masanzu

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Judith A Hartley

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Rachel Hibberd

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Hannah C Hollinger

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Stephen B Wharton

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Karen E Morrison

10

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Christopher J McDermott

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17 September 2009

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11

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217-225

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2

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https://scigraph.springernature.com/pub.10.1007/s10048-009-0218-9

10 December 2017

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cites work

Genetics of familial and sporadic amyotrophic lateral sclerosis

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Crossref

https://api.crossref.org/works/10.1007%2FS10048-009-0218-9

Are amyotrophic lateral sclerosis patients cognitively normal?

21 January 2018

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Crossref

https://api.crossref.org/works/10.1007%2FS10048-009-0218-9

The relationship between abnormalities of cognitive function and cerebral activation in amyotrophic lateral sclerosis. A neuropsychological and positron emission tomography study.

21 January 2018

1 reference

12 December 2020

Amyotrophic lateral sclerosis associated with mutations in the CuZn superoxide dismutase gene

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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

Nuclear factor TDP-43 and SR proteins promote in vitro and in vivo CFTR exon 9 skipping

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12 December 2020

Structural determinants of the cellular localization and shuttling of TDP-43.

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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

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

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12 December 2020

TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration

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12 December 2020

TDP-43 mutation in familial amyotrophic lateral sclerosis

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12 December 2020

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

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12 December 2020

TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis

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12 December 2020

Gene expression assays

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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

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Prevalence and patterns of cognitive impairment in sporadic ALS.

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12 December 2020

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

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12 December 2020

TDP-43 M311V mutation in familial amyotrophic lateral sclerosis.

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Cognitive change in motor neurone disease/amyotrophic lateral sclerosis (MND/ALS).

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12 December 2020

Depletion of TDP 43 overrides the need for exonic and intronic splicing enhancers in the human apoA-II gene.

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12 December 2020

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

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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

TARDBP (TDP-43) sequence analysis in patients with familial and sporadic ALS: identification of two novel mutations.

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12 December 2020

Higher order arrangement of the eukaryotic nuclear bodies

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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

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

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12 December 2020

10.1007/S10048-009-0218-9

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DOI

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10 December 2017

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