Susceptibility and disease modifier genes in amyotrophic lateral sclerosis: from genetic associations to therapeutic implications
SW Willemse, MA van Es - Current Opinion in Neurology, 2023 - journals.lww.com
Technological and methodological advances are enabling researchers to unravel the
genetics of ALS. Both causal mutations and genetic modifiers are viable therapeutic targets …
genetics of ALS. Both causal mutations and genetic modifiers are viable therapeutic targets …
ALS genetics, mechanisms, and therapeutics: where are we now?
The scientific landscape surrounding amyotrophic lateral sclerosis (ALS) continues to shift
as the number of genes associated with the disease risk and pathogenesis, and the cellular …
as the number of genes associated with the disease risk and pathogenesis, and the cellular …
Genetics of amyotrophic lateral sclerosis
Abstract Purpose of Review Amyotrophic lateral sclerosis and frontotemporal dementia (ALS-
FTD) spectrum disorder is a rare fatal disease with strong genetic influences. The …
FTD) spectrum disorder is a rare fatal disease with strong genetic influences. The …
Meta-analysis of genetic modifiers reveals candidate dysregulated pathways in amyotrophic lateral sclerosis
Abstract Amyotrophic Lateral Sclerosis (ALS) is a neurodegenerative disease that has
significant overlap with frontotemporal dementia (FTD). Mutations in specific genes have …
significant overlap with frontotemporal dementia (FTD). Mutations in specific genes have …
Update on amyotrophic lateral sclerosis genetics
D Brenner, JH Weishaupt - Current opinion in neurology, 2019 - journals.lww.com
The field of ALS continues to develop rapidly with multiple disease gene discoveries per
year. The relevance of these findings for genetic counseling and diagnosis is obvious. With …
year. The relevance of these findings for genetic counseling and diagnosis is obvious. With …
Genetic heterogeneity of amyotrophic lateral sclerosis: implications for clinical practice and research
Genetic insights into the pathophysiology of amyotrophic lateral sclerosis (ALS) are
untangling the clinical heterogeneity that may contribute to poor clinical trial outcomes and …
untangling the clinical heterogeneity that may contribute to poor clinical trial outcomes and …
Emerging understanding of the genotype–phenotype relationship in amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis (ALS) is a progressive, noncurable neurodegenerative
disorder of the upper and lower motor neurons causing weakness and death within a few …
disorder of the upper and lower motor neurons causing weakness and death within a few …
SOD-1 Variants in Amyotrophic Lateral Sclerosis: Systematic Re-Evaluation According to ACMG-AMP Guidelines
P Ruffo, B Perrone, FL Conforti - Genes, 2022 - mdpi.com
Amyotrophic lateral sclerosis (ALS) is the most common type of motor neuron disease
whose causes are unclear. The first ALS gene associated with the autosomal dominant form …
whose causes are unclear. The first ALS gene associated with the autosomal dominant form …
DNA sequence analysis of the conserved region around the SOD1 gene locus in recessively inherited ALS
WJ Broom, DV Johnson, M Garber, PM Andersen… - Neuroscience …, 2009 - Elsevier
Familial amyotrophic lateral sclerosis (ALS) accounts for 10% of all ALS cases; 12–23% are
associated with mutations in the Cu/Zn superoxide dismutase gene (SOD1). All ALS-linked …
associated with mutations in the Cu/Zn superoxide dismutase gene (SOD1). All ALS-linked …
Recent progress of the genetics of amyotrophic lateral sclerosis and challenges of gene therapy
H Wang, LP Guan, M Deng - Frontiers in neuroscience, 2023 - frontiersin.org
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by the
degeneration of motor neurons in the brain and spinal cord. The causes of ALS are not fully …
degeneration of motor neurons in the brain and spinal cord. The causes of ALS are not fully …