ArticleFrontiers in genetics2019
Comprehensive Genetic Analysis of a Hungarian Amyotrophic Lateral Sclerosis Cohort.
Article in Frontiers in genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 1 of them a synthesis that pooled it.
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Who cites it
25 citing papers in PubMed, 1 synthesis or guideline pooled it, 46 citations in OpenAlex.
- Genetic and Phenotypic Spectrum of Amyotrophic Lateral Sclerosis Patients with CCNF Variants from a Large Chinese Cohort.Molecular neurobiology · 2023Pooled it
- The Long Haul: Microtubule Motors as the Essential Supply Line for Neuronal Longevity.Journal of neurochemistry · 2026Review
- Genetic epidemiology of C9orf72 repeat expansion associated amyotrophic lateral sclerosis in Hungary.Molecular medicine (Cambridge, Mass.) · 2026Article
- KIF5A and ALS: a clinical and genetic description of a case series and review of literature.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026Review
- Article
- Genetic Variants inInternational journal of molecular sciences · 2025Article
- Circular RNA expression in ALS is progressively deregulated and tissue-dependent.BMC genomics · 2025Article
- Genetic analysis ofFrontiers in aging neuroscience · 2025Article
- Exploring the Role ofGenes · 2024Article
- Hippocampal aggregation signatures of pathogenic UBQLN2 in amyotrophic lateral sclerosis and frontotemporal dementia.Brain : a journal of neurology · 2024Article
- Genetic Landscape of Amyotrophic Lateral Sclerosis in Czech Patients.Journal of neuromuscular diseases · 2024Article
- Loss of function of the ALS-associated NEK1 kinase disrupts microtubule homeostasis and nuclear import.Science advances · 2023Article
- Functional characterization of C21ORF2 association with the NEK1 kinase mutated in human in diseases.Life science alliance · 2023Article
- Likely Pathogenic Variants of CaBiomedicines · 2023Article
- SIGMAR1 variants in ALS-PD complex cases: a case report of a novel mutation and literature review.Frontiers in neurology · 2023Article
- ALS-linked loss of Cyclin-F function affects HSP90.Life science alliance · 2022Article
- Intronic NEFH variant is associated with reduced risk for sporadic ALS and later age of disease onset.Scientific reports · 2022Article
- A novel variant inCold Spring Harbor molecular case studies · 2022Review
- Phenotype of VCP Mutations in Chinese Amyotrophic Lateral Sclerosis Patients.Frontiers in neurology · 2022Article
- Sequencing of neurofilament genes identified NEFH Ser787Arg as a novel risk variant of sporadic amyotrophic lateral sclerosis in Chinese subjects.BMC medical genomics · 2021Article
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease characterized by the degeneration of motor neurons. Genetic factors play a key role in ALS, and identifying variants that contribute to ALS susceptibility is an important step toward understanding the etiology of the disease. The frequency of protein altering variants in ALS patients has been extensively investigated in populations of different ethnic origin. To further delineate the genetic architecture of the Hungarian ALS patients, we aimed to detect potentially damaging variants in major and minor ALS genes and in genes related to other neurogenetic disorders. A combination of repeat-sizing of
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