The repeat length of C9orf72 is associated with the survival of amyotrophic lateral sclerosis patients without C9orf72 pathological expansions

Emerging insights into the complex genetics and pathophysiology of amyotrophic lateral sclerosis

(2022) Stephen A Goutman et al.   LANCET NEUROLOGY

C9orf72 intermediate repeats are associated with corticobasal degeneration, increased C9orf72 expression and disruption of autophagy

(2019) Christopher P. Cali et al.   ACTA NEUROPATHOLOGICA

C9orf72 intermediate expansions of 24–30 repeats are associated with ALS

(2019) Alfredo Iacoangeli et al.   Acta Neuropathologica Communications

TDP-43 levels in the brain tissue of ALS cases with and without C9ORF72 or ATXN2 gene expansions

(2019) Yue Yang et al.   NEUROLOGY

Survival and Prognostic Factors in C9orf72 Repeat Expansion Carriers

(2019) Stella A. Glasmacher et al.   JAMA Neurology

C9ORF72 dipeptide repeat poly-GA inclusions promote intracellular aggregation of phosphorylated TDP-43

(2018) Takashi Nonaka et al.   HUMAN MOLECULAR GENETICS

The most prevalent genetic cause of ALS-FTD, C9orf72 synergizes the toxicity of ATXN2 intermediate polyglutamine repeats through the autophagy pathway

(2016) Sorana Ciura et al.   Autophagy

ATNX2 is not a regulatory gene in Italian amyotrophic lateral sclerosis patients with C9ORF72 GGGGCC expansion

(2016) Adriano Chiò et al.   NEUROBIOLOGY OF AGING

The C9orf72 repeat size correlates with onset age of disease, DNA methylation and transcriptional downregulation of the promoter

(2015) I Gijselinck et al.   MOLECULAR PSYCHIATRY

C9orf72 hexanucleotide repeat expansions in Chinese sporadic amyotrophic lateral sclerosis

(2015) Ji He et al.   NEUROBIOLOGY OF AGING

Ataxin-2 as potential disease modifier in C9ORF72 expansion carriers

(2014) Marka van Blitterswijk et al.   NEUROBIOLOGY OF AGING

ATXN2 polyQ intermediate repeats are a modifier of ALS survival

(2014) A. Chio et al.   NEUROLOGY

Amyotrophic Lateral Sclerosis Risk for Spinocerebellar Ataxia Type 2ATXN2CAG Repeat Alleles

(2014) Annalese G. Neuenschwander et al.   JAMA Neurology

ATXN2 CAG repeat expansions increase the risk for Chinese patients with amyotrophic lateral sclerosis

(2013) Xiaolu Liu et al.   NEUROBIOLOGY OF AGING

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

(2013) Bin Jiao et al.   NEUROBIOLOGY OF AGING

C9ORF72 hexanucleotide expansions of 20-22 repeats are associated with frontotemporal deterioration

(2013) E. Gomez-Tortosa et al.   NEUROLOGY

C9orf72 repeat expansions are not detected in Chinese patients with familial ALS

(2013) Rong Liu et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Intermediate repeat expansion length in C9orf72 may be pathological in amyotrophic lateral sclerosis

(2013) Susan Byrne et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

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

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

(2012) Ching-Paio Tsai 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

Analysis of the C9orf72 hexanucleotide repeat expansion in Korean patients with familial and sporadic amyotrophic lateral sclerosis

(2012) Ja-Hyun Jang et al.   NEUROBIOLOGY OF AGING

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

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

(2010) Andrew C. Elden et al.   NATURE