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ATXN2 polyglutamine intermediate repeats length expansions in Malaysian patients with amyotrophic lateral sclerosis (ALS).
Neurogenetics
January 2025
Department of Biomedical Science, Faculty of Medicine, University of Malaya, Kuala Lumpur, 50603, Malaysia.
Intermediate CAG repeats from 29 to 33 in the ATXN2 gene contributes to the risk of amyotrophic lateral sclerosis (ALS) in European and Asian populations. In this study, 148 ALS patients of multiethnic descent: Chinese (56.1%), Malay (24.
View Article and Find Full Text PDFGenetic and clinical analysis of in amyotrophic lateral sclerosis.
J Med Genet
January 2025
Department of Neurology, Sichuan University, Chengdu, Sichuan, China
Background: Considerable heterogeneity in genotypes and phenotypes has been observed among patients with amyotrophic lateral sclerosis (ALS) harbouring optineurin gene () mutations, as reported in prior studies. The study aimed to elucidate the correlation between genotypes and phenotypes.
Methods: gene variants were screened within a substantial Chinese cohort of patients with ALS, encompassing LoF and rare missense variants.
Exploring the Role of Variants in Italian ALS Patients.
Genes (Basel)
December 2024
Centro Clinico NeMO Adulti, Fondazione Serena Onlus-Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy.
Variants in Cyclin F () have been associated to amyotrophic lateral sclerosis (ALS) and/or frontotemporal dementia (FTD) in a group of cases. The objectives of this study were to determine the contribution of in a large cohort of Italian ALS patients, to look for genotype-phenotype correlation of the mutations and to evaluate the -associated clinical features. We applied next-generation sequencing technologies on 971 unrelated Italian ALS patients and we filtered results to look for variants in gene.
View Article and Find Full Text PDFImpact of APOE and MAPT genetic profile on the cognitive functions among Amyotrophic Lateral Sclerosis Tunisian patients.
J Neural Transm (Vienna)
January 2025
Neurology Department, LR18SP03, Razi University Hospital, Tunis, Tunisia.
Amyotrophic Lateral Sclerosis(ALS) has traditionally been managed as a neuromuscular disorder. However, recent evidence suggests involvement of non-motor domains. This study aims to evaluate the impact of APOE and MAPT genotypes on the cognitive features of ALS.
View Article and Find Full Text PDFGenetic Insights Into the Role of Cathepsins in Alzheimer's Disease, Parkinson's Disease, and Amyotrophic Lateral Sclerosis: Evidence From Mendelian Randomization Study.
Brain Behav
January 2025
Department of Neurology, Sichuan Taikang Hospital, Chengdu, Sichuan, China.
Background: Previous studies have confirmed the significant role of cathepsins in the development of neurodegenerative diseases. We aimed to determine whether genetically predicted 10 cathepsins may have a causal effect on Alzheimer's disease (AD), Parkinson's disease (PD), and amyotrophic lateral sclerosis (ALS).
Methods: We conducted a two-sample bidirectional Mendelian randomization (MR) study using publicly available data from genome-wide association study (GWAS) to assess the causal associations between 10 cathepsins and three neurodegenerative diseases, including AD, PD, and ALS.
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