Ataxin-2 as potential disease modifier in C9ORF72 expansion carriers

[1]  Kevin F. Bieniek,et al.  TMEM106B protects C9ORF72 expansion carriers against frontotemporal dementia , 2014, Acta Neuropathologica.

[2]  J. Trojanowski,et al.  Therapeutic modulation of eIF2α-phosphorylation rescues TDP-43 toxicity in amyotrophic lateral sclerosis disease models , 2013, Nature Genetics.

[3]  Kevin F. Bieniek,et al.  C9ORF72 repeat expansions in cases with previously identified pathogenic mutations , 2013, Neurology.

[4]  L. Petrucelli,et al.  Association between repeat sizes and clinical and pathological characteristics in carriers of C9ORF72 repeat expansions (Xpansize-72): a cross-sectional cohort study , 2013, The Lancet Neurology.

[5]  D. Fan,et al.  ATXN2 CAG repeat expansions increase the risk for Chinese patients with amyotrophic lateral sclerosis , 2013, Neurobiology of Aging.

[6]  P. Svenningsson,et al.  De Novo Mutations in Ataxin-2 Gene and ALS Risk , 2013, PloS one.

[7]  Oliver D. King,et al.  Stress granules as crucibles of ALS pathogenesis , 2013, The Journal of cell biology.

[8]  G. Logroscino,et al.  Ataxin-1 and ataxin-2 intermediate-length PolyQ expansions in amyotrophic lateral sclerosis , 2012, Neurology.

[9]  Y. Parman,et al.  ATXN2 and Its Neighbouring Gene SH2B3 Are Associated with Increased ALS Risk in the Turkish Population , 2012, PloS one.

[10]  B. Castellotti,et al.  ATAXIN2 CAG-repeat length in Italian patients with amyotrophic lateral sclerosis: risk factor or variant phenotype? Implication for genetic testing and counseling , 2012, Neurobiology of Aging.

[11]  P. Rossini,et al.  Contribution of major amyotrophic lateral sclerosis genes to the etiology of sporadic disease , 2012, Neurology.

[12]  E. Cuppen,et al.  NIPA1 polyalanine repeat expansions are associated with amyotrophic lateral sclerosis. , 2012, Human molecular genetics.

[13]  P. Deyn,et al.  Ataxin-2 polyQ expansions in FTLD-ALS spectrum disorders in Flanders-Belgian cohorts , 2012, Neurobiology of Aging.

[14]  C. Barnes,et al.  SMN1 gene duplications are associated with sporadic ALS , 2012, Neurology.

[15]  R. Krüger,et al.  The modulation of Amyotrophic Lateral Sclerosis risk by Ataxin-2 intermediate polyglutamine expansions is a specific effect , 2012, Neurobiology of Disease.

[16]  David Heckerman,et al.  A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD , 2011, Neuron.

[17]  Bruce L. Miller,et al.  Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS , 2011, Neuron.

[18]  P. Pan,et al.  Ataxin-2 intermediate-length polyglutamine: a possible risk factor for Chinese patients with amyotrophic lateral sclerosis , 2011, Neurobiology of Aging.

[19]  V. Meininger,et al.  Association of long ATXN2 CAG repeat sizes with increased risk of amyotrophic lateral sclerosis. , 2011, Archives of neurology.

[20]  C. Angelini,et al.  ALS risk but not phenotype is affected by ataxin-2 intermediate length polyglutamine expansion , 2011, Neurology.

[21]  B. Miller,et al.  Ataxin-2 repeat-length variation and neurodegeneration. , 2011, Human molecular genetics.

[22]  B. Dubois,et al.  Expanded ATXN2 CAG repeat size in ALS identifies genetic overlap between ALS and SCA2 , 2011, Neurology.

[23]  A. Brusco,et al.  ATXN-2 CAG repeat expansions are interrupted in ALS patients , 2011, Human Genetics.

[24]  P. Andersen,et al.  Ataxin-2 intermediate-length polyglutamine expansions in European ALS patients. , 2011, Human molecular genetics.

[25]  John Q. Trojanowski,et al.  Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS , 2010, Nature.

[26]  B. Giraudeau,et al.  SMN1 gene, but not SMN2, is a risk factor for sporadic ALS , 2006, Neurology.

[27]  L. H. van den Berg,et al.  SMN genotypes producing less SMN protein increase susceptibility to and severity of sporadic ALS , 2005, Neurology.

[28]  C. Andres,et al.  Abnormal SMN1 gene copy number is a susceptibility factor for amyotrophic lateral sclerosis , 2002, Annals of neurology.

[29]  F. Baas,et al.  Homozygous deletion of the survival motor neuron 2 gene is a prognostic factor in sporadic ALS , 2001, Neurology.

[30]  L. H. van den Berg,et al.  Taking a risk: a therapeutic focus on ataxin-2 in amyotrophic lateral sclerosis? , 2014, Trends in molecular medicine.