ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry-Reference-Cited by-同舟云学术

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ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry

Published:2015-10 Issue:10 Volume:36 Page:2906.e1-2906.e5
ISSN:0197-4580
Container-title:Neurobiology of Aging
language:en
Short-container-title:Neurobiology of Aging

Author:

Borghero Giuseppe,Pugliatti Maura,Marrosu Francesco,Marrosu Maria Giovanna,Murru Maria Rita,Floris Gianluca,Cannas Antonino,Parish Leslie D.,Cau Tea B.,Loi Daniela,Ticca Anna,Traccis Sebastiano,Manera Umberto,Canosa Antonio,Moglia Cristina,Calvo Andrea,Barberis Marco,Brunetti Maura,Renton Alan E.,Nalls Mike A.,Traynor Bryan J.,Restagno Gabriella,Chiò Adriano

Funder

Italian Ministry of Health

Ministero della Salute

Seventh Framework Programme

Agenzia Italiana per la Ricerca sulla SLA

Associazione Piemontese per l’Assistenza alla SLA

Fondazione Mario e Anna Magnetto

National Institute on Aging

National Institute of Neurological Disorders and Stroke

National Institute of Mental Health

Publisher

Elsevier BV

Subject

Geriatrics and Gerontology,Developmental Biology,Neurology (clinical),Aging,General Neuroscience

Reference17 articles.

1. Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation in CuZn-superoxide dismutase;Andersen;Nat. Genet.,1995

2. Genetic architecture of ALS in Sardinia;Borghero;Neurobiol. Aging,2014

3. El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis;Brooks;Amyotroph. Lateral Scler. Other Motor Neuron Disord.,2000

4. Molecular and clinical correlations in spinocerebellar ataxia 2: a study of 32 families;Cancel;Hum. Mol. Genet.,1997

5. A large proportion of ALS cases in Sardinia are due to a single founder mutation of the TARDBP gene;Chiò;Arch. Neurol.,2011

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1. ATAXIN-2 intermediate-length polyglutamine expansions elicit ALS-associated metabolic and immune phenotypes;Nature Communications;2024-08-29

2. Intermediate Repeat Expansion in the ATXN2 Gene as a Risk Factor in the ALS and FTD Spanish Population;Biomedicines;2024-02-02

3. Autosomal dominant cerebellar ataxias: new genes and progress towards treatments;The Lancet Neurology;2023-08

4. Spatial clustering of amyotrophic lateral sclerosis in Sardinia, Italy: The contribution of age, sex, and genetic factors;Muscle & Nerve;2023-07-19

5. Impact of occupational categories on the incidence of amyotrophic lateral sclerosis in Sardinia Island, Italy;Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration;2022-12-07

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