C9orf72-mediated ALS and FTD: multiple pathways to disease
R Balendra, AM Isaacs - Nature Reviews Neurology, 2018 - nature.com
The discovery that repeat expansions in the C9orf72 gene are a frequent cause of
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) has revolutionized …
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) has revolutionized …
Converging mechanisms in ALS and FTD: disrupted RNA and protein homeostasis
Breakthrough discoveries identifying common genetic causes for amyotrophic lateral
sclerosis (ALS) and frontotemporal dementia (FTD) have transformed our view of these …
sclerosis (ALS) and frontotemporal dementia (FTD) have transformed our view of these …
The changing scene of amyotrophic lateral sclerosis
W Robberecht, T Philips - Nature Reviews Neuroscience, 2013 - nature.com
Several recent breakthroughs have provided notable insights into the pathogenesis of
amyotrophic lateral sclerosis (ALS), with some even shifting our thinking about this …
amyotrophic lateral sclerosis (ALS), with some even shifting our thinking about this …
Molecular neuropathology of frontotemporal dementia: insights into disease mechanisms from postmortem studies
Frontotemporal dementia (FTD) is a clinical syndrome with a heterogeneous molecular
basis. The past decade has seen the discovery of several new FTD‐causing genetic …
basis. The past decade has seen the discovery of several new FTD‐causing genetic …
Gene discovery in amyotrophic lateral sclerosis: implications for clinical management
A Al-Chalabi, LH Van Den Berg, J Veldink - Nature Reviews Neurology, 2017 - nature.com
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease predominantly affecting
upper and lower motor neurons. The disease leads to relentlessly progressive weakness of …
upper and lower motor neurons. The disease leads to relentlessly progressive weakness of …
C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking
MA Farg, V Sundaramoorthy, JM Sultana… - Human molecular …, 2014 - academic.oup.com
Intronic expansion of a hexanucleotide GGGGCC repeat in the chromosome 9 open reading
frame 72 (C9ORF72) gene is the major cause of familial amyotrophic lateral sclerosis (ALS) …
frame 72 (C9ORF72) gene is the major cause of familial amyotrophic lateral sclerosis (ALS) …
The role of dipeptide repeats in C9ORF72-related ALS-FTD
BD Freibaum, JP Taylor - Frontiers in molecular neuroscience, 2017 - frontiersin.org
Expansion of a hexanucleotide (GGGGCC) repeat in the gene chromosome 9 open reading
frame 72 (C9ORF72) is the most common cause of amyotrophic lateral sclerosis and …
frame 72 (C9ORF72) is the most common cause of amyotrophic lateral sclerosis and …
Motor neuron susceptibility in ALS/FTD
AMG Ragagnin, S Shadfar, M Vidal… - Frontiers in …, 2019 - frontiersin.org
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by the
death of both upper and lower motor neurons (MNs) in the brain, brainstem and spinal cord …
death of both upper and lower motor neurons (MNs) in the brain, brainstem and spinal cord …
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 …
the most common genetic cause of frontotemporal lobar degeneration (FTLD) and …
Dipeptide repeat protein pathology in C9ORF72 mutation cases: clinico-pathological correlations
IR Mackenzie, T Arzberger, E Kremmer, D Troost… - Acta …, 2013 - Springer
Hexanucleotide repeat expansion in C9ORF72 is the most common genetic cause of
frontotemporal dementia and motor neuron disease. Recently, unconventional non-ATG …
frontotemporal dementia and motor neuron disease. Recently, unconventional non-ATG …