ArticleNeurobiology of aging2017
Genetic epidemiology of motor neuron disease-associated variants in the Scottish population.
Article in Neurobiology of aging, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 28 papers, 4 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
28 citing papers in PubMed, 4 syntheses or guidelines pooled it, 50 citations in OpenAlex.
- Unveiling the SOD1-mediated ALS phenotype: insights from a comprehensive meta-analysis.Journal of neurology · 2024Pooled it
- NEK1 mutations and the risk of amyotrophic lateral sclerosis (ALS): a meta-analysis.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2021Pooled it
- Survival and Prognostic Factors in C9orf72 Repeat Expansion Carriers: A Systematic Review and Meta-analysis.JAMA neurology · 2020Pooled it
- TDP-43 as a potential biomarker for amyotrophic lateral sclerosis: a systematic review and meta-analysis.BMC neurology · 2018Pooled it
- Guidelines addressing Motor Neurone Disease (MND): a scoping review.Neurodegenerative disease management · 2026Article
- Mapping Evidence on Care Interventions for People Living With Motor Neurone Disease: A Protocol for a Living Evidence and Gap Map.Clinical and public health guidelines · 2026Article
- Article
- Biobank-scale genetic characterization of Alzheimer's disease and related dementias across diverse ancestries.Nature communications · 2025Article
- Clinicopathological analysis of NEK1 variants in amyotrophic lateral sclerosis.Brain pathology (Zurich, Switzerland) · 2025Article
- TBK1 p.Y153Qfs*9 variant may be associated with young-onset, rapidly progressive amyotrophic lateral sclerosis through a haploinsufficiency mechanism.Journal of the Chinese Medical Association : JCMA · 2024Article
- Temporal course of cognitive and behavioural changes in motor neuron diseases.Journal of neurology, neurosurgery, and psychiatry · 2024Article
- Non-motor symptoms in motor neuron disease: prevalence, assessment and impact.Brain communications · 2024Article
- Distinct neuroinflammatory signatures exist across genetic and sporadic amyotrophic lateral sclerosis cohorts.Brain : a journal of neurology · 2023Article
- Advantages of routine next-generation sequencing over standard genetic testing in the amyotrophic lateral sclerosis clinic.European journal of neurology · 2023Article
- Genotype-phenotype characterisation of long survivors with motor neuron disease in Scotland.Journal of neurology · 2023Article
- Synaptic proteomics reveal distinct molecular signatures of cognitive change and C9ORF72 repeat expansion in the human ALS cortex.Acta neuropathologica communications · 2022Article
- Review
- Article
- Genetics and Sex in the Pathogenesis of Amyotrophic Lateral Sclerosis (ALS): Is There a Link?International journal of molecular sciences · 2020Review
- Nucleation and kinetics of SOD1 aggregation in human cells for ALS1.Molecular and cellular biochemistry · 2020Article
Corrections and comments
- Erratum issued
Authors and funding
17 authors at 4 institutions in 2 countries.
Funding
Abstract
Genetic understanding of motor neuron disease (MND) has evolved greatly in the past 10 years, including the recent identification of association between MND and variants in TBK1 and NEK1. Our aim was to determine the frequency of pathogenic variants in known MND genes and to assess whether variants in TBK1 and NEK1 contribute to the burden of MND in the Scottish population. SOD1, TARDBP, OPTN, TBK1, and NEK1 were sequenced in 441 cases and 400 controls. In addition to 44 cases known to carry a C9orf72 hexanucleotide repeat expansion, we identified 31 cases and 2 controls that carried a loss-of-function or pathogenic variant. Loss-of-function variants were found in TBK1 in 3 cases and no controls and, separately, in NEK1 in 3 cases and no controls. This study provides an accurate description of the genetic epidemiology of MND in Scotland and provides support for the contribution of both TBK1 and NEK1 to MND susceptibility in the Scottish population.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.