[PDF][PDF] Hypermethylation of the CpG island near the G4C2 repeat in ALS with a C9orf72 expansion

Z Xi, L Zinman, D Moreno, J Schymick, Y Liang… - The American Journal of …, 2013 - cell.com
The G 4 C 2 repeat expansion in C9orf72 is the most common known cause of amyotrophic
lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD). We tested the …

Hypermethylation of the CpG-island near the C9orf72 G4C2-repeat expansion in FTLD patients

Z Xi, I Rainero, E Rubino, L Pinessi… - Human molecular …, 2014 - academic.oup.com
The G4C2-repeat expansion in C9orf72 is a common cause of frontotemporal lobar
degeneration (FTLD) and amyotrophic lateral sclerosis (ALS). C9orf72 transcription is …

The C9orf72 repeat expansion itself is methylated in ALS and FTLD patients

Z Xi, M Zhang, AC Bruni, RG Maletta, R Colao… - Acta …, 2015 - Springer
The most common cause of both amyotrophic lateral sclerosis (ALS) and frontotemporal
lobar degeneration (FTLD) is a G 4 C 2-repeat expansion in C9orf72. However, the lower …

[PDF][PDF] Jump from pre-mutation to pathologic expansion in C9orf72

Z Xi, M van Blitterswijk, M Zhang, P McGoldrick… - The American Journal of …, 2015 - cell.com
An expanded G 4 C 2 repeat in C9orf72 represents the most common known genetic cause
of amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) …

C9orf72 hypermethylation protects against repeat expansion-associated pathology in ALS/FTD

EY Liu, J Russ, K Wu, D Neal, E Suh, AG McNally… - Acta …, 2014 - Springer
Hexanucleotide repeat expansions of C9orf72 are the most common genetic cause of
amyotrophic lateral sclerosis and frontotemporal degeneration. The mutation is associated …

[HTML][HTML] Reduced C9orf72 gene expression in c9FTD/ALS is caused by histone trimethylation, an epigenetic event detectable in blood

VV Belzil, PO Bauer, M Prudencio, TF Gendron… - Acta …, 2013 - Springer
Individuals carrying (GGGGCC) expanded repeats in the C9orf72 gene represent a
significant portion of patients suffering from amyotrophic lateral sclerosis (ALS) and …

Characterization of the repeat expansion size in C9orf72 in amyotrophic lateral sclerosis and frontotemporal dementia

O Dols-Icardo, A García-Redondo… - Human molecular …, 2014 - academic.oup.com
Hexanucleotide repeat expansions within the C9orf72 gene are the most important genetic
cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). The …

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

I Gijselinck, S Van Mossevelde, J van der Zee… - Molecular …, 2016 - nature.com
Pathological expansion of a G 4 C 2 repeat, located in the 5'regulatory region of C9orf72, is
the most common genetic cause of frontotemporal lobar degeneration (FTLD) and …

Lack of C9ORF72 coding mutations supports a gain of function for repeat expansions in amyotrophic lateral sclerosis

MB Harms, J Cady, C Zaidman, P Cooper, T Bali… - Neurobiology of …, 2013 - Elsevier
Hexanucleotide repeat expansions in C9ORF72 are a common cause of familial and
apparently sporadic amyotrophic lateral sclerosis (ALS) and frontal temporal dementia …

C9ORF72 repeat expansion in a large Italian ALS cohort: evidence of a founder effect

A Ratti, L Corrado, B Castellotti, R Del Bo, I Fogh… - Neurobiology of …, 2012 - Elsevier
A hexanucleotide repeat expansion (RE) in C9ORF72 gene was recently reported as the
main cause of amyotrophic lateral sclerosis (ALS) and cases with frontotemporal dementia …