Large proportion of amyotrophic lateral sclerosis cases in Sardinia due to a single founder mutation of the TARDBP gene (Q36441637)

14 August 2017

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

1 reference

amyotrophic lateral sclerosis

14 August 2017

0 references

Gianluca Floris

12

0 references

Cristina Moglia

Cristina Moglia

6

0 references

Andrea Calvo

Andrea Calvo

5

0 references

Maria Giovanna Marrosu

Maria Giovanna Marrosu

10

0 references

Maura Pugliatti

3

Maura Pugliatti

1 reference

14 August 2017

1

Adriano Chiò

1 reference

14 August 2017

23

Gabriella Restagno

1 reference

14 August 2017

8

Maura Brunetti

1 reference

14 August 2017

2

Giuseppe Borghero

1 reference

14 August 2017

22

Bryan J Traynor

1 reference

14 August 2017

21

Dena G Hernandez

1 reference

14 August 2017

Anna Ticca

4

1 reference

14 August 2017

Roberto Mutani

7

1 reference

14 August 2017

Irene Ossola

9

1 reference

14 August 2017

Maria Rita Murru

11

1 reference

14 August 2017

Antonino Cannas

13

1 reference

14 August 2017

Leslie D Parish

14

1 reference

14 August 2017

Paola Cossu

15

1 reference

14 August 2017

Yevgeniya Abramzon

16

1 reference

14 August 2017

Janel O Johnson

17

1 reference

14 August 2017

Michael A Nalls

18

1 reference

14 August 2017

Sampath Arepalli

19

1 reference

14 August 2017

Sean Chong

20

1 reference

14 August 2017

Italian Amyotrophic Lateral Sclerosis Genetic (ITALSGEN) Consortium

24

1 reference

14 August 2017

10 January 2011

1 reference

14 August 2017

Archives of Neurology

1 reference

14 August 2017

68

1 reference

14 August 2017

5

1 reference

14 August 2017

594-598

1 reference

Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study

14 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3513278

FUS mutations in 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=3513278

Incidence of amyotrophic lateral sclerosis in Europe

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3513278

Clinical and pathological continuum of multisystem TDP-43 proteinopathies

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3513278

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=3513278

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=3513278

Y-chromosome based evidence for pre-neolithic origin of the genetically homogeneous but diverse Sardinian population: inference for association scans

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3513278

PLINK: a tool set for whole-genome association and population-based linkage analyses

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3513278

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=3513278

The epidemiology of multiple sclerosis in Europe.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3513278

Y chromosome sequence variation and the history of human populations

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3513278

Motor neuron disease with parkinsonism

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3513278

A review of the recent epidemiological data on the worldwide incidence of type 1 (insulin-dependent) diabetes mellitus. World Health Organization DIAMOND Project Group

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3513278

Reconstruction of human evolution: bringing together genetic, archaeological, and linguistic data

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3513278

Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinico-pathological study of 100 cases

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3513278

Genetic and population structure of four Sardinian villages.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3513278

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

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3513278

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

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3513278

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

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3513278

Consensus criteria for the diagnosis of frontotemporal cognitive and behavioural syndromes in 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=3513278

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=3513278

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=3513278

No TARDBP mutations in a French Canadian population of patients with Parkinson disease

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3513278

Incidence of ALS in Italy: evidence for a uniform frequency in Western countries.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3513278

Molecular characterization of wilson disease in the Sardinian population--evidence of a founder effect

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3513278

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

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3513278

ALS-plus: 5 cases of concomitant amyotrophic lateral sclerosis and parkinsonism

21 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21220647

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/21220647

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1001/ARCHNEUROL.2010.352

1 reference

14 August 2017

1 reference

14 August 2017

1 reference