Broadening the phenotype of TARDBP mutations: the TARDBP Ala382Thr mutation and Parkinson's disease in Sardinia (Q35171397)

6 August 2017

title

Broadening the phenotype of TARDBP mutations: the TARDBP Ala382Thr mutation and Parkinson's disease in Sardinia (English)

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6 August 2017

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9

Vincenzo Bonifati

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6 August 2017

8

Ben A Oostra

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6 August 2017

2

Giovanni Cossu

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6 August 2017

Marialuisa Quadri

1

1 reference

6 August 2017

Valeria Saddi

3

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6 August 2017

Erik J Simons

4

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6 August 2017

Daniela Murgia

5

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6 August 2017

Maurizio Melis

6

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6 August 2017

Anna Ticca

7

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6 August 2017

language of work or name

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11 June 2011

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6 August 2017

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6 August 2017

volume

12

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6 August 2017

issue

3

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6 August 2017

page(s)

203-209

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

6 August 2017

cites work

1 reference

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Amyotrophic lateral sclerosis-frontotemporal lobar dementia in 3 families with p.Ala382Thr TARDBP mutations

13 July 2018

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Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis

13 July 2018

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Transactivation response DNA-binding protein 43 microvasculopathy in frontotemporal degeneration and familial Lewy body disease

13 July 2018

1 reference

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TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158341

Clinical and pathological continuum of multisystem TDP-43 proteinopathies

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158341

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158341

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158341

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158341

TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158341

TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158341

TDP-43 A315T mutation in familial motor neuron disease

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158341

Y-chromosome based evidence for pre-neolithic origin of the genetically homogeneous but diverse Sardinian population: inference for association scans

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158341

LRRK2 low-penetrance mutations (Gly2019Ser) and risk alleles (Gly2385Arg)-linking familial and sporadic Parkinson's disease

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158341

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158341

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

13 July 2018

1 reference

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Gene finding in genetically isolated populations

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158341

Motor neuron disease with parkinsonism

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158341

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158341

Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinico-pathological study of 100 cases

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158341

Mutation within TARDBP leads to frontotemporal dementia without motor neuron disease.

13 July 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0288-3

No evidence for cognitive dysfunction or depression in patients with mild restless legs syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0288-3

TDP-43 mutation in familial amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0288-3

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0288-3

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0288-3

TARDBP mutations in frontotemporal lobar degeneration: frequency, clinical features, and disease course.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0288-3

No TARDBP mutations in a French Canadian population of patients with Parkinson disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0288-3

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0288-3

Phosphorylated TDP-43 in Alzheimer's disease and dementia with Lewy bodies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-011-0288-3

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

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158341

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

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158341

Contribution of TARDBP mutations to sporadic amyotrophic lateral sclerosis.

27 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21667065

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

LRRK2 mutations and Parkinson's disease in Sardinia--A Mediterranean genetic isolate

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21667065

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S10048-011-0288-3

1 reference

6 August 2017

1 reference

6 August 2017

1 reference