ArticlePLoS genetics2014
Targeted exon capture and sequencing in sporadic amyotrophic lateral sclerosis.
Article in PLoS genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
The trial behind it
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
33 citing papers in PubMed, 56 citations in OpenAlex.
- Burden of pathogenetic and likely pathogenetic variants in SPG7, SPG11 and AP4 genes in Amyotrophic Lateral Sclerosis. A case-control study.Journal of neurology · 2025Article
- Identification and characterization of variants in PSEN1, PSEN2, and APP genes in Chinese patients with early-onset Alzheimer's disease.Alzheimer's research & therapy · 2025Article
- Presenilin: A Multi-Functional Molecule in the Pathogenesis of Alzheimer's Disease and Other Neurodegenerative Diseases.International journal of molecular sciences · 2024Review
- Genetic Landscape of Amyotrophic Lateral Sclerosis in Czech Patients.Journal of neuromuscular diseases · 2024Article
- Genetic variability in sporadic amyotrophic lateral sclerosis.Brain : a journal of neurology · 2023Article
- Genetics, Functions, and Clinical Impact of Presenilin-1 (PSEN1) Gene.International journal of molecular sciences · 2022Review
- Role of genetics in amyotrophic lateral sclerosis: a large cohort study in Chinese mainland population.Journal of medical genetics · 2022Article
- DNA Damage, Defective DNA Repair, and Neurodegeneration in Amyotrophic Lateral Sclerosis.Frontiers in aging neuroscience · 2022Review
- Motoneuron Diseases.Advances in neurobiology · 2022Article
- Phenotype of VCP Mutations in Chinese Amyotrophic Lateral Sclerosis Patients.Frontiers in neurology · 2022Article
- RNA-Binding Proteins and the Complex Pathophysiology of ALS.International journal of molecular sciences · 2021Review
- A Descriptive Review of Global Real World Evidence Efforts to Advance Drug Discovery and Clinical Development in Amyotrophic Lateral Sclerosis.Frontiers in neurology · 2021Review
- Stress granule subtypes: an emerging link to neurodegeneration.Cellular and molecular life sciences : CMLS · 2020Review
- Targeted next-generation sequencing study in familial ALS-FTD Portuguese patients negative for C9orf72 HRE.Journal of neurology · 2020Article
- SPG7 mutations in amyotrophic lateral sclerosis: a genetic link to hereditary spastic paraplegia.Journal of neurology · 2020Article
- Alternative Splicing of ALS Genes: Misregulation and Potential Therapies.Cellular and molecular neurobiology · 2020Review
- Dysregulation of RNA-Binding Proteins in Amyotrophic Lateral Sclerosis.Frontiers in molecular neuroscience · 2020Article
- Dysregulation of RNA Splicing in Tauopathies.Cell reports · 2019Article
- Identification and characterization of novel and rare susceptible variants in Indian amyotrophic lateral sclerosis patients.Neurogenetics · 2019Article
- Neurotheranostics as personalized medicines.Advanced drug delivery reviews · 2019Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease that results in progressive degeneration of motor neurons, ultimately leading to paralysis and death. Approximately 10% of ALS cases are familial, with the remaining 90% of cases being sporadic. Genetic studies in familial cases of ALS have been extremely informative in determining the causative mutations behind ALS, especially as the same mutations identified in familial ALS can also cause sporadic disease. However, the cause of ALS in approximately 30% of familial cases and in the majority of sporadic cases remains unknown. Sporadic ALS cases represent an underutilized resource for genetic information about ALS; therefore, we undertook a targeted sequencing approach of 169 known and candidate ALS disease genes in 242 sporadic ALS cases and 129 matched controls to try to identify novel variants linked to ALS. We found a significant enrichment in novel and rare variants in cases versus controls, indicating that we are likely identifying disease associated mutations. This study highlights the utility of next generation sequencing techniques combined with functional studies and rare variant analysis tools to provide insight into the genetic etiology of a heterogeneous sporadic disease.
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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.