(Q34613626)

3 August 2017

title

Genetic architecture of ALS in Sardinia (English)

1 reference

amyotrophic lateral sclerosis

3 August 2017

main subject

1 reference

Hannah A Pliner

20

0 references

Gianluca Floris

Gianluca Floris

6

0 references

Alan Renton

Alan E Renton

21

0 references

Cristina Moglia

Cristina Moglia

16

0 references

Andrea Calvo

Andrea Calvo

17

0 references

Maria Giovanna Marrosu

Maria Giovanna Marrosu

4

0 references

Maura Pugliatti

2

Maura Pugliatti

1 reference

3 August 2017

25

Adriano Chiò

1 reference

3 August 2017

24

Gabriella Restagno

1 reference

3 August 2017

1

Giuseppe Borghero

1 reference

3 August 2017

19

Maura Brunetti

1 reference

3 August 2017

23

Bryan J Traynor

1 reference

3 August 2017

Francesco Marrosu

3

1 reference

3 August 2017

Maria Rita Murru

5

1 reference

3 August 2017

Antonino Cannas

7

1 reference

3 August 2017

Leslie D Parish

8

1 reference

3 August 2017

Patrizia Occhineri

9

1 reference

3 August 2017

Tea B Cau

10

1 reference

3 August 2017

Daniela Loi

11

1 reference

3 August 2017

Anna Ticca

12

1 reference

3 August 2017

Sebastiano Traccis

13

1 reference

3 August 2017

Umberto Manera

14

1 reference

3 August 2017

Antonio Canosa

15

1 reference

3 August 2017

Marco Barberis

18

1 reference

3 August 2017

Mike A Nalls

22

1 reference

3 August 2017

ITALSGEN and SARDINALS Consortia

26

1 reference

3 August 2017

publication date

18 July 2014

1 reference

3 August 2017

published in

Neurobiology of Aging

1 reference

3 August 2017

volume

35

1 reference

3 August 2017

issue

12

1 reference

3 August 2017

page(s)

2882.e7-2882.e12

1 reference

Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

3 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4252367

State of play in amyotrophic lateral sclerosis genetics

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4252367

Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4252367

Genetic counselling in ALS: facts, uncertainties and clinical suggestions

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4252367

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4252367

Extensive genetics of ALS: a population-based study in Italy

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4252367

The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4252367

Evidence for an oligogenic basis of amyotrophic lateral sclerosis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4252367

ALS/FTD phenotype in two Sardinian families carrying both C9ORF72 and TARDBP mutations

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4252367

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4252367

Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4252367

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4252367

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4252367

Chromosome 9 ALS and FTD locus is probably derived from a single founder

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4252367

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4252367

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4252367

Mutations of optineurin in amyotrophic lateral sclerosis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4252367

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4252367

Cognitive correlates in amyotrophic lateral sclerosis: a population-based study in Italy

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4252367

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

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4252367

Japanese amyotrophic lateral sclerosis patients with GGGGCC hexanucleotide repeat expansion in C9ORF72.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4252367

The syndrome of cognitive impairment in amyotrophic lateral sclerosis: a population-based study

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4252367

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

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4252367

Proposed criteria for familial amyotrophic lateral sclerosis

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4252367

Amyotrophic lateral sclerosis in Sardinia, insular Italy, 1995-2009

9 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25123918

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.NEUROBIOLAGING.2014.07.012

1 reference

3 August 2017

1 reference

3 August 2017

1 reference