(Q36941969)

17 August 2017

Defining the spectrum of frontotemporal dementias associated with TARDBP mutations (English)

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17 August 2017

17

Alexis Brice

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Bruno Dubois

15

object named as

Bruno Dubois

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author name string

Paola Caroppo

1

1 reference

17 August 2017

Agnès Camuzat

2

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17 August 2017

Léna Guillot-Noel

3

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17 August 2017

Catherine Thomas-Antérion

4

1 reference

17 August 2017

Philippe Couratier

5

1 reference

17 August 2017

Tsz Hang Wong

6

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17 August 2017

Marc Teichmann

7

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17 August 2017

Véronique Golfier

8

1 reference

17 August 2017

Sophie Auriacombe

9

1 reference

17 August 2017

Serge Belliard

10

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17 August 2017

Bernard Laurent

11

1 reference

17 August 2017

Serena Lattante

12

1 reference

17 August 2017

Stéphanie Millecamps

13

1 reference

17 August 2017

Fabienne Clot

14

1 reference

17 August 2017

John C van Swieten

16

1 reference

17 August 2017

Isabelle Le Ber

18

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17 August 2017

26 May 2016

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17 August 2017

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17 August 2017

2

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17 August 2017

3

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17 August 2017

e80

1 reference

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

17 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4882769

Clinical phenotypes and radiological findings in frontotemporal dementia related to TARDBP mutations.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4882769

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4882769

Novel TARDBP sequence variant and C9ORF72 repeat expansion in a family with frontotemporal dementia.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4882769

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4882769

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4882769

Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4882769

Classification of primary progressive aphasia and its variants

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4882769

Mutational analysis of TARDBP in neurodegenerative diseases

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4882769

TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4882769

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4882769

TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4882769

Neuroimaging features in C9orf72 and TARDBP double mutation with FTD phenotype

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4882769

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4882769

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4882769

C9ORF72 repeat expansions in the frontotemporal dementias spectrum of diseases: a flow-chart for genetic testing

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4882769

Novel TARDBP mutations in Nordic ALS patients

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4882769

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4882769

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4882769

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4882769

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4882769

Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4882769

El Escorial World Federation of Neurology criteria for the diagnosis of amyotrophic lateral sclerosis. Subcommittee on Motor Neuron Diseases/Amyotrophic Lateral Sclerosis of the World Federation of Neurology Research Group on Neuromuscular Diseases a

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4882769

10.1212/NXG.0000000000000080

4 September 2018

Identifiers

DOI

1 reference

17 August 2017

1 reference

17 August 2017

PubMed publication ID

27280171

1 reference