Amyotrophic lateral sclerosis: translating genetic discoveries into therapies
Recent advances in sequencing technologies and collaborative efforts have led to
substantial progress in identifying the genetic causes of amyotrophic lateral sclerosis (ALS) …
substantial progress in identifying the genetic causes of amyotrophic lateral sclerosis (ALS) …
Molecular mechanisms underlying nucleotide repeat expansion disorders
The human genome contains over one million short tandem repeats. Expansion of a subset
of these repeat tracts underlies over fifty human disorders, including common genetic …
of these repeat tracts underlies over fifty human disorders, including common genetic …
Integrative transcriptomic analysis of the amyotrophic lateral sclerosis spinal cord implicates glial activation and suggests new risk genes
Amyotrophic lateral sclerosis (ALS) is a progressively fatal neurodegenerative disease
affecting motor neurons in the brain and spinal cord. In this study, we investigated gene …
affecting motor neurons in the brain and spinal cord. In this study, we investigated gene …
The impact of age on genetic testing decisions in amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis (ALS) is a heterogeneous neurodegenerative syndrome. In up
to 20% of cases, a family history is observed. Although Mendelian disease gene variants are …
to 20% of cases, a family history is observed. Although Mendelian disease gene variants are …
Autosomal dominant cerebellar ataxias: new genes and progress towards treatments
Dominantly inherited spinocerebellar ataxias (SCAs) are associated with phenotypes that
range from pure cerebellar to multisystemic. The list of implicated genes has lengthened in …
range from pure cerebellar to multisystemic. The list of implicated genes has lengthened in …
Genotype-associated cerebellar profiles in ALS: focal cerebellar pathology and cerebro-cerebellar connectivity alterations
Objective Cerebellar disease burden and cerebro-cerebellar connectivity alterations are
poorly characterised in amyotrophic lateral sclerosis (ALS) despite the likely contribution of …
poorly characterised in amyotrophic lateral sclerosis (ALS) despite the likely contribution of …
Short tandem repeat expansions in sporadic amyotrophic lateral sclerosis and frontotemporal dementia
Pathogenic short tandem repeat (STR) expansions cause over 20 neurodegenerative
diseases. To determine the contribution of STRs in sporadic amyotrophic lateral sclerosis …
diseases. To determine the contribution of STRs in sporadic amyotrophic lateral sclerosis …
[HTML][HTML] The genetic architecture of ALS
Amyotrophic lateral sclerosis (ALS) is a heterogeneous group of neurological conditions
which have in common the progressive degeneration of upper and lower motor neurons …
which have in common the progressive degeneration of upper and lower motor neurons …
ATAXIN-2 intermediate-length polyglutamine expansions elicit ALS-associated metabolic and immune phenotypes
R Vieira de Sá, E Sudria-Lopez… - Nature …, 2024 - nature.com
Intermediate-length repeat expansions in ATAXIN-2 (ATXN2) are the strongest genetic risk
factor for amyotrophic lateral sclerosis (ALS). At the molecular level, ATXN2 intermediate …
factor for amyotrophic lateral sclerosis (ALS). At the molecular level, ATXN2 intermediate …
Genome-wide meta-analysis finds the ACSL5-ZDHHC6 locus is associated with ALS and links weight loss to the disease genetics
We meta-analyze amyotrophic lateral sclerosis (ALS) genome-wide association study
(GWAS) data of European and Chinese populations (84,694 individuals). We find an …
(GWAS) data of European and Chinese populations (84,694 individuals). We find an …