Amyotrophic lateral sclerosis-frontotemporal lobar dementia in 3 families with p.Ala382Thr TARDBP mutations (Q36504551)

14 August 2017

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

1 reference

amyotrophic lateral sclerosis

14 August 2017

0 references

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Cristina Moglia

3

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Andrea Calvo

Andrea Calvo

2

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Angelina Cistaro

Angelina Cistaro

8

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Maria Giovanna Marrosu

Maria Giovanna Marrosu

13

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Adriano Chiò

1

Adriano Chiò

1 reference

14 August 2017

4

Gabriella Restagno

1 reference

14 August 2017

6

Maura Brunetti

1 reference

14 August 2017

15

Giuseppe Borghero

1 reference

14 August 2017

10

Bryan J Traynor

1 reference

14 August 2017

Irene Ossola

5

1 reference

14 August 2017

Anna Montuschi

7

1 reference

14 August 2017

Anna Ticca

9

1 reference

14 August 2017

Jennifer C Schymick

11

1 reference

14 August 2017

Roberto Mutani

12

1 reference

14 August 2017

Maria Rita Murru

14

1 reference

14 August 2017

1 August 2010

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14 August 2017

Archives of Neurology

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14 August 2017

67

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14 August 2017

8

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14 August 2017

1002-1009

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

14 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535689

TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535689

Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535689

Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535689

Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535689

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535689

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535689

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535689

TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535689

TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535689

TDP-43 A315T mutation in familial motor neuron disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535689

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535689

Are amyotrophic lateral sclerosis patients cognitively normal?

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535689

El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535689

Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535689

Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535689

Consensus criteria for the diagnosis of frontotemporal cognitive and behavioural syndromes in amyotrophic lateral sclerosis.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535689

Screening for TARDBP mutations in Japanese familial amyotrophic lateral sclerosis.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535689

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

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535689

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

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535689

TDP-43 mutation in familial amyotrophic lateral sclerosis

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535689

Contribution of TARDBP mutations to sporadic amyotrophic lateral sclerosis.

21 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20697052

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1001/ARCHNEUROL.2010.173

1 reference

14 August 2017

1 reference

14 August 2017

PubMed publication ID

20697052

1 reference