Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72. (Q35776923)

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scientific article published on March 2012

Language	Label	Description	Also known as
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

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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)

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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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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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Michael Sendtner

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Gianluigi Mancardi

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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

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Yevgeniya Abramzon

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Fabio Giannini

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Massimo Corbo

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publication date

1 March 2012

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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

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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

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27 July 2018

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

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Genetics and neuropathology of Huntington's disease

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27 July 2018

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

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27 July 2018

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

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27 July 2018

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

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27 July 2018

Incidence of amyotrophic lateral sclerosis in Europe

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27 July 2018

Clinical and pathological continuum of multisystem TDP-43 proteinopathies

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Limbic and cortical information processing in the nucleus accumbens

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27 July 2018

Aggregation of neurodegenerative disease in ALS kindreds

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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

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25 September 2018

Phenotypic heterogeneity of amyotrophic lateral sclerosis: a population based study

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25 September 2018

Exome sequencing reveals VCP mutations as a cause of familial ALS

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25 September 2018

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

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25 September 2018

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

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25 September 2018

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

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

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25 September 2018

Amyotrophic lateral sclerosis

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Proposed criteria for familial amyotrophic lateral sclerosis

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

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10.1093/BRAIN/AWR366

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Europe PubMed Central

PubMed publication ID

10 August 2017

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Europe PubMed Central

PubMed publication ID

10 August 2017

PubMed publication ID

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Europe PubMed Central

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10 August 2017

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