Aspects of degradation and translation of the expanded C9orf72 hexanucleotide repeat RNA
K Mori, S Gotoh, M Ikeda - Journal of Neurochemistry, 2023 - Wiley Online Library
An hexanucleotide repeat expansion mutation in the non‐coding region of C9orf72 gene
causes frontotemporal dementia and amyotrophic lateral sclerosis. This mutation is …
causes frontotemporal dementia and amyotrophic lateral sclerosis. This mutation is …
Genotype-phenotype correlation in the spectrum of frontotemporal dementia-parkinsonian syndromes and advanced diagnostic approaches
C Zecca, R Tortelli, P Carrera… - Critical Reviews in …, 2023 - Taylor & Francis
The term frontotemporal dementia (FTD) refers to a group of progressive neurodegenerative
disorders characterized mainly by atrophy of the frontal and anterior temporal lobes. Based …
disorders characterized mainly by atrophy of the frontal and anterior temporal lobes. Based …
[HTML][HTML] C9ORF72 knockdown triggers FTD-like symptoms and cell pathology in mice
MB Lopez-Herdoiza, S Bauché, B Wilmet… - Frontiers in Cellular …, 2023 - frontiersin.org
The GGGGCC intronic repeat expansion within C9ORF72 is the most common genetic
cause of ALS and FTD. This mutation results in toxic gain of function through accumulation …
cause of ALS and FTD. This mutation results in toxic gain of function through accumulation …
[HTML][HTML] Young Onset Alzheimer's Disease Associated with C9ORF72 Hexanucleotide Expansion: Further Evidence for a Still Unsolved Association
G Vinceti, C Gallingani, E Zucchi, I Martinelli… - Genes, 2023 - mdpi.com
Frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are recognized as
part of a disease continuum (FTD-ALS spectrum), in which the most common genetic cause …
part of a disease continuum (FTD-ALS spectrum), in which the most common genetic cause …
[HTML][HTML] C9orf72 hexanucleotide repeat allele tagging SNPs: Associations with ALS risk and longevity
K Kaivola, M Pirinen, H Laaksovirta, L Jansson… - Frontiers in …, 2023 - frontiersin.org
C9orf72 hexanucleotide repeat expansion is a common cause of amyotrophic lateral
sclerosis (ALS) and frontotemporal dementia (FTD). The C9orf72 locus may harbor residual …
sclerosis (ALS) and frontotemporal dementia (FTD). The C9orf72 locus may harbor residual …
[HTML][HTML] No Association of Multiple Sclerosis with C9orf72 Hexanucleotide Repeat Size in an Austrian Cohort
T König, F Leutmezer, T Berger, A Zimprich… - International Journal of …, 2023 - mdpi.com
Multiple Sclerosis (MS) is a common immune-mediated disorder of the central nervous
system that affects young adults and is characterized by demyelination and …
system that affects young adults and is characterized by demyelination and …
[HTML][HTML] HnRNP Pathologies in Frontotemporal Lobar Degeneration
Frontotemporal dementia (FTD) is the second most common form of young-onset (< 65
years) dementia. Clinically, it primarily manifests as a disorder of behavioural, executive …
years) dementia. Clinically, it primarily manifests as a disorder of behavioural, executive …
C9ORF72 knockdown triggers FTD-like symptoms and cell pathology in mice
AL Nishimura, JC Mitchell, KA Staats, M Latouche… - 2023 - search.ebscohost.com
The GGGGCC intronic repeat expansion within C9ORF72 is the most common genetic
cause of ALS and FTD. This mutation results in toxic gain of function through accumulation …
cause of ALS and FTD. This mutation results in toxic gain of function through accumulation …
[PDF][PDF] Aktive und passive anti-GA Immuntherapie für C9orf72 ALS/FTD im Mausmodell
N Mareljic - 2023 - edoc.ub.uni-muenchen.de
Zusammenfassung Frontotemporale Demenz (FTD) und Amyotrophe lateral Sklerose (ALS)
sind neurodegenerative Erkrankungen, die sowohl klinisch als auch pathologisch und …
sind neurodegenerative Erkrankungen, die sowohl klinisch als auch pathologisch und …
Identifying modulators of C9orf72 DPRs and STMN2 levels in ALS/FTD using high throughput screening
BV Holbling - 2023 - discovery.ucl.ac.uk
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are
neurodegenerative diseases on the same continuum. In this thesis, I will focus on two key …
neurodegenerative diseases on the same continuum. In this thesis, I will focus on two key …