A novel mutation P112H in the TARDBP gene associated with frontotemporal lobar degeneration without motor neuron disease and abundant neuritic amyloid plaques (Q35246500)

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English	A novel mutation P112H in the TARDBP gene associated with frontotemporal lobar degeneration without motor neuron disease and abundant neuritic amyloid plaques	scientific article

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scholarly article

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5 March 2020

A novel mutation P112H in the TARDBP gene associated with frontotemporal lobar degeneration without motor neuron disease and abundant neuritic amyloid plaques (English)

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5 March 2020

frontotemporal lobar degeneration

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based on heuristic

inferred from title

motor neuron disease

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based on heuristic

inferred from title

6

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5 March 2020

Daniel R Schonhaut

8

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17

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5 March 2020

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William W Seeley

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5 March 2020

Gil D Rabinovici

2

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Gil D Rabinovici

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5 March 2020

author name string

Fermin Moreno

1

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5 March 2020

Anna Karydas

3

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5 March 2020

Zachary Miller

4

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5 March 2020

Sandy Chan Hsu

5

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5 March 2020

Jamie Fong

7

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5 March 2020

Hermann Esselmann

9

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5 March 2020

Christa Watson

10

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5 March 2020

Melanie L Stephens

11

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5 March 2020

Joel Kramer

12

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5 March 2020

Jens Wiltfang

13

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5 March 2020

Giovanni Coppola

16

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5 March 2020

Bruce L Miller

15

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5 March 2020

publication date

3 April 2015

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5 March 2020

Acta Neuropathologica Communications

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5 March 2020

3

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19

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5 March 2020

copyright license

Creative Commons Attribution 4.0 International

3 April 2015

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April 2022 Public Data File from Crossref

copyright status

0 references

https://scigraph.springernature.com/pub.10.1186/s40478-015-0190-6

0 references

The p.A382T TARDBP gene mutation in Sardinian patients affected by Parkinson's disease and other degenerative parkinsonisms

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12 July 2018

TARDBP mutations in Parkinson's disease

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12 July 2018

National Institute on Aging-Alzheimer's Association guidelines for the neuropathologic assessment of Alzheimer's disease: a practical approach

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12 July 2018

Phenotypic signatures of genetic frontotemporal dementia

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12 July 2018

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

1 reference

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12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4382926

12 July 2018

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

1 reference

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12 July 2018

A harmonized classification system for FTLD-TDP pathology

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12 July 2018

β-amyloid triggers ALS-associated TDP-43 pathology in AD models

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12 July 2018

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

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12 July 2018

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

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12 July 2018

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

1 reference

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12 July 2018

A method and server for predicting damaging missense mutations

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12 July 2018

Absence of TARDBP gene mutations in an italian series of patients with frontotemporal lobar degeneration.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4382926

12 July 2018

TARDBP 3'-UTR variant in autopsy-confirmed frontotemporal lobar degeneration with TDP-43 proteinopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4382926

12 July 2018

TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4382926

12 July 2018

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

1 reference

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12 July 2018

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

1 reference

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12 July 2018

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

1 reference

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12 July 2018

ALS and FTLD: two faces of TDP-43 proteinopathy

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12 July 2018

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

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12 July 2018

TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4382926

12 July 2018

TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4382926

12 July 2018

TDP-43 A315T mutation in familial motor neuron disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4382926

12 July 2018

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

1 reference

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12 July 2018

SNAP: predict effect of non-synonymous polymorphisms on function

1 reference

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12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4382926

12 July 2018

Comparison of family histories in FTLD subtypes and related tauopathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4382926

12 July 2018

Amino-truncated beta-amyloid42 peptides in cerebrospinal fluid and prediction of progression of mild cognitive impairment

1 reference

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12 July 2018

Clinicopathological correlates in frontotemporal dementia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4382926

12 July 2018

Medical and environmental risk factors for sporadic frontotemporal dementia: a retrospective case-control study

1 reference

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12 July 2018

SIFT: Predicting amino acid changes that affect protein function

1 reference

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12 July 2018

Truncated beta-amyloid peptide species in pre-clinical Alzheimer's disease as new targets for the vaccination approach

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4382926

12 July 2018

Characterization and functional implications of the RNA binding properties of nuclear factor TDP-43, a novel splicing regulator of CFTR exon 9

1 reference

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12 July 2018

Neuropathological stageing of Alzheimer-related changes

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12 July 2018

“Mini-mental state”

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12 July 2018

Targeted high-throughput sequencing identifies a TARDBP mutation as a cause of early-onset FTD without motor neuron disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4382926

26 September 2018

TARDBP mutation p.Ile383Val associated with semantic dementia and complex proteinopathy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4382926

26 September 2018

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.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4382926

26 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4382926

26 September 2018

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

1 reference

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26 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4382926

26 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4382926

26 September 2018

TDP-43 mutation in familial amyotrophic lateral sclerosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4382926

26 September 2018

Prevalence and patterns of cognitive impairment in sporadic ALS.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4382926

26 September 2018

Phases of A beta-deposition in the human brain and its relevance for the development of AD.

1 reference

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26 September 2018

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

1 reference

https://api.crossref.org/works/10.1186%2FS40478-015-0190-6

21 January 2018

TDP-43 gene analysis in frontotemporal lobar degeneration

1 reference

https://pubmed.ncbi.nlm.nih.gov/25853458

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

No association of TDP-43 with sporadic frontotemporal dementia

1 reference

https://pubmed.ncbi.nlm.nih.gov/25853458

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Contribution of TARDBP mutations to sporadic amyotrophic lateral sclerosis.

1 reference

https://pubmed.ncbi.nlm.nih.gov/25853458

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cerebrovascular risk factors and triggers in transient global amnesia patients with and without jugular valve incompetence: results from a sample of 243 patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/25853458

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1186/S40478-015-0190-6

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5 March 2020

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5 March 2020

1 reference

Europe PubMed Central

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5 March 2020

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