ALS/FTD phenotype in two Sardinian families carrying both C9ORF72 and TARDBP mutations (Q36057290)

11 August 2017

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

1 reference

amyotrophic lateral sclerosis

11 August 2017

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1 reference

Gianluca Floris

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Alan E Renton

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Cristina Moglia

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Andrea Calvo

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Maria Giovanna Marrosu

object named as

Maria Giovanna Marrosu

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Maura Pugliatti

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11 August 2017

Adriano Chiò

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11 August 2017

Gabriella Restagno

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11 August 2017

Maura Brunetti

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11 August 2017

Giuseppe Borghero

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11 August 2017

Bryan J Traynor

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11 August 2017

Irene Ossola

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11 August 2017

Antonio Canosa

1 reference

11 August 2017

Paolo Tacconi

1 reference

11 August 2017

Francesco Marrosu

1 reference

11 August 2017

Maria Rita Murru

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11 August 2017

Elisa Majounie

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11 August 2017

Yvegeniya Abramzon

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11 August 2017

Maria Alessandra Sotgiu

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11 August 2017

SARDINIALS Consortium

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11 August 2017

language of work or name

English

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publication date

1 May 2012

1 reference

Journal of Neurology, Neurosurgery and Psychiatry

11 August 2017

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11 August 2017

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11 August 2017

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11 August 2017

730-733

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C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population

11 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568835

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568835

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568835

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568835

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568835

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568835

Exome sequencing reveals VCP mutations as a cause of familial ALS

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568835

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568835

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568835

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568835

TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568835

Y chromosome sequence variation and the history of human populations

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568835

Genetic and population structure of four Sardinian villages.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568835

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568835

Four familial ALS pedigrees discordant for two SOD1 mutations: are all SOD1 mutations pathogenic?

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568835

Compound heterozygous D90A and D96N SOD1 mutations in a recessive amyotrophic lateral sclerosis family

23 September 2018

1 reference

12 December 2020

Prevalence of SOD1 mutations in the Italian ALS population

1 reference

12 December 2020

SOD1 G93D sporadic amyotrophic lateral sclerosis (SALS) patient with rapid progression and concomitant novel ANG variant

1 reference

12 December 2020

Amyotrophic lateral sclerosis

1 reference

12 December 2020

Identifiers

DOI

10.1136/JNNP-2012-302219

1 reference

11 August 2017

1 reference

11 August 2017

PubMed publication ID

22550220

1 reference