TARDBP mutations in Parkinson's disease (Q30536779)

15 August 2017

TARDBP mutations in Parkinson's disease (English)

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15 August 2017

1 reference

6

1 reference

23 June 2017

Sruti Rayaprolu

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Leonard Petrucelli

series ordinal

5

object named as

Leonard Petrucelli

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15 August 2017

10

Ryan J Uitti

1 reference

15 August 2017

11

Zbigniew K Wszolek

1 reference

15 August 2017

7

Rosa Rademakers

1 reference

15 August 2017

12

Owen A Ross

1 reference

PMCID

3582838

15 August 2017

Neill R Graff-Radford

series ordinal

9

object named as

Neill R Graff-Radford

1 reference

PMCID

3582838

Alexandra I Soto-Ortolaza

15 August 2017

series ordinal

4

object named as

Alexandra I Soto-Ortolaza

1 reference

15 August 2017

8

Kevin B Boylan

1 reference

15 August 2017

2

Shinsuke Fujioka

1 reference

15 August 2017

3

Sharleen Traynor

1 reference

15 August 2017

8 December 2012

1 reference

Parkinsonism and Related Disorders

15 August 2017

4

1 reference

based on heuristic

inferred from page(s)

published in

1 reference

15 August 2017

19

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15 August 2017

3

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15 August 2017

312-315

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Clinical genetics of amyotrophic lateral sclerosis: what do we really know?

15 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582838

A patient carrying a homozygous p.A382T TARDBP missense mutation shows a syndrome including ALS, extrapyramidal symptoms, and FTD

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582838

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582838

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582838

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582838

TAR DNA-binding protein 43 in neurodegenerative disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582838

Elucidating the genetics and pathology of Perry syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582838

TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582838

DCTN1 mutations in Perry syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582838

Genetic variation of Omi/HtrA2 and Parkinson's disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582838

TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582838

TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582838

TDP-43 A315T mutation in familial motor neuron disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582838

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582838

Diagnostic criteria for Parkinson disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582838

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.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582838

Gains or losses: molecular mechanisms of TDP43-mediated neurodegeneration

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582838

A family with Parkinsonism, essential tremor, restless legs syndrome, and depression.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582838

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

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582838

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

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582838

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

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582838

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

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582838

Concurrence of TDP-43, tau and alpha-synuclein pathology in brains of Alzheimer's disease and dementia with Lewy bodies

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582838

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

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582838

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

26 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23231971

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23231971

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.PARKRELDIS.2012.11.003

1 reference

15 August 2017

1 reference

15 August 2017

1 reference

PMCID

3582838