Genetic epidemiology of amyotrophic lateral sclerosis: a systematic review and meta-analysis
ZY Zou, ZR Zhou, CH Che, CY Liu, RL He… - Journal of Neurology …, 2017 - jnnp.bmj.com
Background Genetic studies have shown that C9orf72, SOD1, TARDBP and FUS are the
most common mutated genes in amyotrophic lateral sclerosis (ALS). Here, we performed a …
most common mutated genes in amyotrophic lateral sclerosis (ALS). Here, we performed a …
C9ORF72: what it is, what it does, and why it matters
J Smeyers, EG Banchi, M Latouche - Frontiers in cellular …, 2021 - frontiersin.org
When the non-coding repeat expansion in the C9ORF72 gene was discovered to be the
most frequent cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis …
most frequent cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis …
Identification of risk factors associated with onset and progression of amyotrophic lateral sclerosis using systematic review and meta-analysis
Although amyotrophic lateral sclerosis (ALS) was identified as a neurological condition 150
years ago, risk factors related to the onset and progression of ALS remain largely unknown …
years ago, risk factors related to the onset and progression of ALS remain largely unknown …
Pathogenesis of amyotrophic lateral sclerosis
INTRODUCTION: Amyotrophic lateral sclerosis (ALS) or motor neuron disease is a rapidly
progressive neurodegenerative disorder. The primary involvement is of motor neurons in the …
progressive neurodegenerative disorder. The primary involvement is of motor neurons in the …
C9orf72 intermediate expansions of 24–30 repeats are associated with ALS
The expansion of a hexanucleotide repeat GGGGCC in C9orf72 is the most common known
cause of ALS accounting for~ 40% familial cases and~ 7% sporadic cases in the European …
cause of ALS accounting for~ 40% familial cases and~ 7% sporadic cases in the European …
[HTML][HTML] Relationship between C9orf72 repeat size and clinical phenotype
S Van Mossevelde, J van der Zee, M Cruts… - Current opinion in …, 2017 - Elsevier
Patient carriers of a C9orf72 repeat expansion exhibit remarkable heterogeneous clinical
and pathological characteristics suggesting the presence of modifying factors. In accordance …
and pathological characteristics suggesting the presence of modifying factors. In accordance …
G-quadruplexes in neurobiology and virology: functional roles and potential therapeutic approaches
A G-quadruplex (G4) is a four-stranded nucleic acid secondary structure maintained by
Hoogsteen hydrogen bonds established between four guanines. Experimental studies and …
Hoogsteen hydrogen bonds established between four guanines. Experimental studies and …
Ribosome inhibition by C9ORF72-ALS/FTD-associated poly-PR and poly-GR proteins revealed by cryo-EM
AB Loveland, E Svidritskiy, D Susorov, S Lee… - Nature …, 2022 - nature.com
Toxic dipeptide-repeat (DPR) proteins are produced from expanded G4C2 repeats in the
C9ORF72 gene, the most common genetic cause of amyotrophic lateral sclerosis (ALS) and …
C9ORF72 gene, the most common genetic cause of amyotrophic lateral sclerosis (ALS) and …
Causal association of type 2 diabetes with amyotrophic lateral sclerosis: new evidence from Mendelian randomization using GWAS summary statistics
Background Associations between type 2 diabetes (T2D) and amyotrophic lateral sclerosis
(ALS) were discovered in observational studies in both European and East Asian …
(ALS) were discovered in observational studies in both European and East Asian …
Expanding Clinical Spectrum of C9ORF72-Related Disorders and Promising Therapeutic Strategies: A Review
S Breevoort, S Gibson, K Figueroa… - Neurology …, 2022 - AAN Enterprises
In 2011, a pathogenic hexanucleotide repeat expansion in the C9ORF72 gene was
discovered to be the leading genetic cause of amyotrophic lateral sclerosis (ALS) and …
discovered to be the leading genetic cause of amyotrophic lateral sclerosis (ALS) and …