(Q35776923)

English

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

scientific article published on March 2012

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

10 August 2017

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

1 reference

Europe PubMed Central

PubMed publication ID

10 August 2017

amyotrophic lateral sclerosis

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Carsten Drepper

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Carsten Drepper

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Rossella Spataro

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Rossella Spataro

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Paola Mandich

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Alan E Renton

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Jessica Mandrioli

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Jessica Mandrioli

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Francesca Luisa Conforti

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Francesca Luisa Conforti

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Claudia Caponnetto

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Claudia Caponnetto

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Stefania Battistini

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Stefania Battistini

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Silvana Penco

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Andrea Calvo

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Mario Sabatelli

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Mario Sabatelli

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Michael Sendtner

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Michael Sendtner

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Gianluigi Mancardi

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Gianluigi Mancardi

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Maria Giovanna Marrosu

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Maria Giovanna Marrosu

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Aldo Quattrone

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Maura Pugliatti

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Maura Pugliatti

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Christian Lunetta

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Christian Lunetta

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Gabriele Mora

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Adriano Chiò

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Giancarlo Logroscino

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Giancarlo Logroscino

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Gabriella Restagno

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Gabriella Restagno

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Maria Rosaria Monsurrò

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Maria Rosaria Monsurrò

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Maura Brunetti

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Giuseppe Borghero

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Giuseppe Borghero

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Bryan J Traynor

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Gioacchino Tedeschi

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Gioacchino Tedeschi

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Patrizia Sola

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Irene Ossola

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Maria Alessandra Sotgiu

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Maria Rita Murru

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Francesco Marrosu

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Kalliopi Marinou

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Vincenzo La Bella

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Amelia Conte

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Fabrizio Pisano

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Ilaria Bartolomei

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Fabrizio Salvi

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Giuseppe Lauria Pinter

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Isabella Simone

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Antonio Gambardella

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Paolo Volanti

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Marcella Zollino

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ITALSGEN consortium

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Elisa Majounie

42

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Yevgeniya Abramzon

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Fabio Giannini

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Massimo Corbo

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10 August 2017

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publication date

1 March 2012

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10 August 2017

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10 August 2017

135

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Pt 3

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784-793

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10 August 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286333

27 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286333

27 July 2018

EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS)--revised report of an EFNS task force

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286333

27 July 2018

Genetics and neuropathology of Huntington's disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286333

27 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286333

27 July 2018

Familial frontotemporal dementia with amyotrophic lateral sclerosis and a shared haplotype on chromosome 9p

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286333

27 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286333

27 July 2018

Incidence of amyotrophic lateral sclerosis in Europe

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286333

27 July 2018

Clinical and pathological continuum of multisystem TDP-43 proteinopathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286333

27 July 2018

Limbic and cortical information processing in the nucleus accumbens

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286333

27 July 2018

Aggregation of neurodegenerative disease in ALS kindreds

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286333

27 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286333

25 September 2018

Family history of neurodegenerative and vascular diseases in ALS: a population-based study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286333

25 September 2018

Phenotypic heterogeneity of amyotrophic lateral sclerosis: a population based study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286333

25 September 2018

Exome sequencing reveals VCP mutations as a cause of familial ALS

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286333

25 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286333

25 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286333

25 September 2018

Clinical, neuroimaging and neuropathological features of a new chromosome 9p-linked FTD-ALS family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286333

25 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286333

25 September 2018

Clinical and molecular aspects of the myotonic dystrophies: a review.

1 reference

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25 September 2018

Amyotrophic lateral sclerosis

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR366

21 January 2018

Proposed criteria for familial amyotrophic lateral sclerosis

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR366

21 January 2018

A locus on chromosome 9p confers susceptibility to ALS and frontotemporal dementia

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR366

21 January 2018

Prevalence of SOD1 mutations in the Italian ALS population

1 reference

https://pubmed.ncbi.nlm.nih.gov/22366794

12 December 2020

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10.1093/BRAIN/AWR366

1 reference

Europe PubMed Central

PubMed publication ID

10 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

10 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

10 August 2017

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