Intermediate CAG Repeat Expansion in the ATXN2 Gene Is a Unique Genetic Risk Factor for ALS−A Systematic Review and Meta-Analysis of Observational Studies

Advances in motor neurone disease

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TARDBPandFUSMutations Associated with Amyotrophic Lateral Sclerosis: Summary and Update

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Positive Selection of CAG Repeats of the ATXN2 Gene in Chinese Ethnic Groups

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Ataxin-2 Modulates the Levels of Grb2 and Src but Not Ras Signaling

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C9ORF72 Mutations in Neurodegenerative Diseases

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The epidemiology of ALS: a conspiracy of genes, environment and time

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Repeat expansion in C9ORF72 is not a major cause of amyotrophic lateral sclerosis among Iranian patients

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Identification of C9orf72 repeat expansions in patients with amyotrophic lateral sclerosis and frontotemporal dementia in mainland China

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De Novo Mutations in Ataxin-2 Gene and ALS Risk

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Protein misfolding in the late-onset neurodegenerative diseases: Common themes and the unique case of amyotrophic lateral sclerosis

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Current insights into the C9orf72 repeat expansion diseases of the FTLD/ALS spectrum

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The genetics and neuropathology of amyotrophic lateral sclerosis

(2012) Ammar Al-Chalabi et al.   ACTA NEUROPATHOLOGICA

Distinct TDP-43 pathology in ALS patients with ataxin 2 intermediate-length polyQ expansions

(2012) Michael P. Hart et al.   ACTA NEUROPATHOLOGICA

Prevalence of Huntington's disease gene CAG repeat alleles in sporadic amyotrophic lateral sclerosis patients

(2012) Eliana Marisa Ramos et al.   Amyotrophic Lateral Sclerosis

Misregulated RNA processing in amyotrophic lateral sclerosis

(2012) Magdalini Polymenidou et al.   BRAIN RESEARCH

The C9ORF72 expansion mutation is a common cause of ALS+/−FTD in Europe and has a single founder

(2012) Bradley N Smith et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Ataxin-2 interacts with FUS and intermediate-length polyglutamine expansions enhance FUS-related pathology in amyotrophic lateral sclerosis

(2012) Manal A. Farg et al.   HUMAN MOLECULAR GENETICS

Analysis of theC9orf72Gene in Patients with Amyotrophic Lateral Sclerosis in Spain and Different Populations Worldwide

(2012) Alberto García-Redondo et al.   HUMAN MUTATION

ALSoD: A user-friendly online bioinformatics tool for amyotrophic lateral sclerosis genetics

(2012) Olubunmi Abel et al.   HUMAN MUTATION

Japanese amyotrophic lateral sclerosis patients with GGGGCC hexanucleotide repeat expansion in C9ORF72

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ALS-Associated Ataxin 2 PolyQ Expansions Enhance Stress-Induced Caspase 3 Activation and Increase TDP-43 Pathological Modifications

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Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

(2012) Elisa Majounie et al.   LANCET NEUROLOGY

Spinocerebellar Ataxia Type 2: Clinical Presentation, Molecular Mechanisms, and Therapeutic Perspectives

(2012) J. J. Magaña et al.   MOLECULAR NEUROBIOLOGY

A hexanucleotide repeat expansion in C9ORF72 causes familial and sporadic ALS in Taiwan

(2012) Ching-Paio Tsai et al.   NEUROBIOLOGY OF AGING

H63D polymorphism in HFE is not associated with amyotrophic lateral sclerosis

(2012) Wouter van Rheenen et al.   NEUROBIOLOGY OF AGING

Screening for C9orf72 repeat expansions in Chinese amyotrophic lateral sclerosis patients

(2012) Zhang-Yu Zou et al.   NEUROBIOLOGY OF AGING

Ataxin-1 and ataxin-2 intermediate-length PolyQ expansions in amyotrophic lateral sclerosis

(2012) F. L. Conforti et al.   NEUROLOGY

Analysis of the C9orf72 repeat in Parkinson's disease, essential tremor and restless legs syndrome

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ATXN2 and Its Neighbouring Gene SH2B3 Are Associated with Increased ALS Risk in the Turkish Population

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Keeping up with genetic discoveries in amyotrophic lateral sclerosis: The ALSoD and ALSGene databases

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Unexpanded and intermediate CAG polymorphisms at the SCA2 locus (ATXN2) in the Cuban population: evidence about the origin of expanded SCA2 alleles

(2011) José Miguel Laffita-Mesa et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

ATXN-2 CAG repeat expansions are interrupted in ALS patients

(2011) Lucia Corrado et al.   HUMAN GENETICS

Modelling the Effects of Penetrance and Family Size on Rates of Sporadic and Familial Disease

(2011) Ammar Al-Chalabi et al.   HUMAN HEREDITY

Ataxin-2 intermediate-length polyglutamine expansions in European ALS patients

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Ataxin-2 repeat-length variation and neurodegeneration

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Model Organisms Reveal Insight into Human Neurodegenerative Disease: Ataxin-2 Intermediate-Length Polyglutamine Expansions Are a Risk Factor for ALS

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The modulation of Amyotrophic Lateral Sclerosis risk by Ataxin-2 intermediate polyglutamine expansions is a specific effect

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Amyotrophic Lateral Sclerosis: What Role Does Environment Play?

(2011) Aiesha Ahmed et al.   NEUROLOGIC CLINICS

ALS risk but not phenotype is affected by ataxin-2 intermediate length polyglutamine expansion

(2011) G. Soraru et al.   NEUROLOGY

Expanded ATXN2 CAG repeat size in ALS identifies genetic overlap between ALS and SCA2

(2011) P. Van Damme et al.   NEUROLOGY

Evaluating the prevalence of polyglutamine repeat expansions in amyotrophic lateral sclerosis

(2011) T. Lee et al.   NEUROLOGY

Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS

(2011) Mariely DeJesus-Hernandez et al.   NEURON

A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD

(2011) Alan E. Renton et al.   NEURON

3.073 EPIGENETIC DNA-METHYLATION IN THE CORE ATAXIN-2 GENE PROMOTER: NOVEL PHYSIOLOGICAL AND PATHOLOGICAL IMPLICATIONS

(2011) J. Laffita et al.   PARKINSONISM & RELATED DISORDERS

PolyQ Repeat Expansions in ATXN2 Associated with ALS Are CAA Interrupted Repeats

(2011) Zhenming Yu et al.   PLoS One

The Heritability of Amyotrophic Lateral Sclerosis in a Clinically Ascertained United States Research Registry

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An estimate of amyotrophic lateral sclerosis heritability using twin data

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Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS

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Exposure to chemicals and metals and risk of amyotrophic lateral sclerosis: A systematic review

(2009) Nadia A. Sutedja et al.   Amyotrophic Lateral Sclerosis

What we truly know about occupation as a risk factor for ALS: A critical and systematic review

(2009) Nadia A. Sutedja et al.   Amyotrophic Lateral Sclerosis

Genetic studies of amyotrophic lateral sclerosis: Controversies and perspectives

(2009) Ana Beleza-Meireles et al.   Amyotrophic Lateral Sclerosis

The PRISMA statement for reporting systematic reviews and meta-analyses of studies that evaluate health care interventions: explanation and elaboration

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A large-scale international meta-analysis of paraoxonase gene polymorphisms in sporadic ALS

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The role of environmental mercury, lead and pesticide exposure in development of amyotrophic lateral sclerosis

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Clinical phenotypes and natural progression for motor neuron disease: Analysis from an Australian database

(2008) Paul Talman et al.   Amyotrophic Lateral Sclerosis

Meta-analysis of vascular endothelial growth factor variations in amyotrophic lateral sclerosis: increased susceptibility in male carriers of the -2578AA genotype

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Genetics, environmental factors and the emerging role of epigenetics in neurodegenerative diseases

(2008) Lucia Migliore et al.   MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS