Associated Papers
Two Families With Amyotrophic Lateral Sclerosis Founder Mutation TARDBP p.G298S in Hong Kong.
Yip MK et al.
Cureus, 2025
A systematic review and functional in-silico analysis of genes and variants associated with amyotrophic lateral sclerosis.
Arreola-Aldape CA et al.
Frontiers in Neuroscience, 2025
40589786 (PubMed )
Supplement: Table_1.xlsx › Hoja_1
Updated Genetic Analysis of Japanese Familial ALS Patients Carrying SOD1 Variants Revealed Phenotypic Differences for Common Variants.
Nishiyama A et al.
Neurology. Genetics, 2024
Association of smoking with amyotrophic lateral sclerosis: A systematic review, meta-analysis, and dose-response analysis.
Kim K et al.
Tobacco Induced Diseases, 2024
38239315 (PubMed )
Supplement: TID-22-13-s1.pdf
Genetic Screening of Patients with Sporadic Alzheimer's Disease and Frontotemporal Lobar Degeneration in the Chinese Population.
Li Y et al.
Journal of Alzheimer's Disease : Jad, 2024
Revealing the Mutational Spectrum in Southern Africans With Amyotrophic Lateral Sclerosis.
Nel M et al.
Neurology. Genetics, 2022
D-amino acid oxidase (DAO) rare genetic missense variant p.Pro103Leu and gastric cancer.
Zong Y et al.
Molecular and Clinical Oncology, 2021
Mechanistic insights into the loss-of-function mechanisms of rare human D-amino acid oxidase variants implicated in amyotrophic lateral sclerosis.
Padhi AK et al.
Scientific Reports, 2020
Burden of rare variants in causative genes for amyotrophic lateral sclerosis (ALS) accelerates age at onset of ALS.
Naruse H et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2019
Screening for possible oligogenic pathogenesis in Chinese sporadic ALS patients.
Zhang H et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2018
Burden of rare variants in ALS genes influences survival in familial and sporadic ALS.
Pang SY et al.
Neurobiology of Aging, 2017
Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource.
Keogh MJ et al.
Genome Research, 2017
28003435 (PubMed )
Supplement: supp_gr.210609.116_Supplemental_Clinical_data.xlsx › Uncertain_Significance
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