[PDF][PDF] Genome-wide analyses identify KIF5A as a novel ALS gene
…, HA Pliner, BN Smith, G Marangi, SD Topp… - Neuron, 2018 - cell.com
To identify novel genes associated with ALS, we undertook two lines of investigation. We
carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls…
carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls…
NEK1 variants confer susceptibility to amyotrophic lateral sclerosis
…, W Sproviero, BN Smith, MA Van Es, SD Topp… - Nature …, 2016 - nature.com
To identify genetic factors contributing to amyotrophic lateral sclerosis (ALS), we conducted
whole-exome analyses of 1,022 index familial ALS (FALS) cases and 7,315 controls. In a …
whole-exome analyses of 1,022 index familial ALS (FALS) cases and 7,315 controls. In a …
Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder. We screened 751
familial ALS patient whole-exome sequences and identified six mutations including p.D40G …
familial ALS patient whole-exome sequences and identified six mutations including p.D40G …
Association of variants in the SPTLC1 gene with juvenile amyotrophic lateral sclerosis
…, N Alahmady, AE Renton, SD Topp… - JAMA …, 2021 - jamanetwork.com
Importance Juvenile amyotrophic lateral sclerosis (ALS) is a rare form of ALS characterized
by age of symptom onset less than 25 years and a variable presentation. Objective To …
by age of symptom onset less than 25 years and a variable presentation. Objective To …
Massive crossover elevation via combination of HEI10 and recq4a recq4b during Arabidopsis meiosis
…, C Lambing, CH Griffin, SD Topp… - Proceedings of the …, 2018 - National Acad Sciences
During meiosis, homologous chromosomes undergo reciprocal crossovers, which generate
genetic diversity and underpin classical crop improvement. Meiotic recombination initiates …
genetic diversity and underpin classical crop improvement. Meiotic recombination initiates …
Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein
…, DP Howrigan, LE Abbott, JR Klim, SD Topp… - Nature …, 2019 - nature.com
To discover novel genes underlying amyotrophic lateral sclerosis (ALS), we aggregated
exomes from 3,864 cases and 7,839 ancestry-matched controls. We observed a significant …
exomes from 3,864 cases and 7,839 ancestry-matched controls. We observed a significant …
[PDF][PDF] Pathogenic huntingtin repeat expansions in patients with frontotemporal dementia and amyotrophic lateral sclerosis
…, BN Smith, N Ticozzi, C Fallini, AS Gkazi, SD Topp… - Neuron, 2021 - cell.com
We examined the role of repeat expansions in the pathogenesis of frontotemporal dementia
(FTD) and amyotrophic lateral sclerosis (ALS) by analyzing whole-genome sequence data …
(FTD) and amyotrophic lateral sclerosis (ALS) by analyzing whole-genome sequence data …
RRM adjacent TARDBP mutations disrupt RNA binding and enhance TDP-43 proteinopathy
Amyotrophic lateral sclerosis (ALS) presents with focal muscle weakness due to motor neuron
degeneration that becomes generalized, leading to death from respiratory failure within 3–…
degeneration that becomes generalized, leading to death from respiratory failure within 3–…
[HTML][HTML] The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration
S Opie-Martin, A Iacoangeli, SD Topp, O Abel… - Nature …, 2022 - nature.com
Superoxide dismutase (SOD1) gene variants may cause amyotrophic lateral sclerosis, some
of which are associated with a distinct phenotype. Most studies assess limited variants or …
of which are associated with a distinct phenotype. Most studies assess limited variants or …
[HTML][HTML] ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function
M de Majo, SD Topp, BN Smith, AL Nishimura… - Neurobiology of …, 2018 - Elsevier
Mutations in TANK binding kinase 1 (TBK1) have been linked to amyotrophic lateral
sclerosis. Some TBK1 variants are nonsense and are predicted to cause disease through …
sclerosis. Some TBK1 variants are nonsense and are predicted to cause disease through …