ArticleNeurology2021
Pathogenic Effect of
Open access · greenAbstract readComment
In one paragraph
Article in Neurology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
0numbers the graph read from it
0cells of the map it votes in
12citing papers in PubMed
1.5field-weighted citation impact, top 15% of its field
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
12 citing papers in PubMed, 15 citations in OpenAlex.
- Adenosine Deaminase-Mediated Purine Dysfunction Leads to DNA Repair Inhibition and Senescence in Sporadic Amyotrophic Lateral Sclerosis.International journal of molecular sciences · 2026Article
- Genetic contributions to mitochondrial dysfunction in amyotrophic lateral sclerosis etiology.HGG advances · 2026Article
- A multi-omic single-cell landscape of cellular diversification in the developing human cerebral cortex.Computational and structural biotechnology journal · 2024Article
- Review
- Mutation and clinical analysis of the CLCC1 gene in amyotrophic lateral sclerosis patients from Central South China.Annals of clinical and translational neurology · 2024Article
- Diving deep: zebrafish models in motor neuron degeneration research.Frontiers in neuroscience · 2024Review
- CRISPR/Cas9: implication for modeling and therapy of amyotrophic lateral sclerosis.Frontiers in neuroscience · 2023Review
- Genetic and clinical analysis ofFrontiers in aging neuroscience · 2023Article
- Lack of association of TP73 rare variants with amyotrophic lateral sclerosis in a Chinese cohort.Human genomics · 2022Article
- Rare variants in TP73 in a frontotemporal dementia cohort link this gene with primary progressive aphasia phenotypes.European journal of neurology · 2022Article
- Adenosine deaminase, not immune to a mechanistic rethink in central nervous system disorders?Histology and histopathology · 2022Review
- Motor neuron-derived induced pluripotent stem cells as a drug screening platform for amyotrophic lateral sclerosis.Frontiers in cell and developmental biology · 2022Review
Corrections and comments
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Authors and funding
12 authors at 1 institution in 1 country.
Kristi L RussellFrom the Departments of Human Genetics (K.L.R., J.A.D., L.C.M., L.B.J.), Neurology (S.B.G., K.P.F., M.B.B., S.M.P.), and Pediatrics (M.D.K., J.L.B.), University of Utah School of Medicine, Salt Lake City; Department of Medicine (J.M.D.), Massachusetts General Hospital, Boston; Department of Neurosurgery (S.T.), Mount Sinai Hospital, Icahn School of Medicine, New York, NY; and Brain and Spine Center (J.L.B.), Primary Children's Hospital, Salt Lake City, UT. kristi.russell@utah.edu.
Jonathan M DownieFrom the Departments of Human Genetics (K.L.R., J.A.D., L.C.M., L.B.J.), Neurology (S.B.G., K.P.F., M.B.B., S.M.P.), and Pediatrics (M.D.K., J.L.B.), University of Utah School of Medicine, Salt Lake City; Department of Medicine (J.M.D.), Massachusetts General Hospital, Boston; Department of Neurosurgery (S.T.), Mount Sinai Hospital, Icahn School of Medicine, New York, NY; and Brain and Spine Center (J.L.B.), Primary Children's Hospital, Salt Lake City, UT.
Summer B GibsonFrom the Departments of Human Genetics (K.L.R., J.A.D., L.C.M., L.B.J.), Neurology (S.B.G., K.P.F., M.B.B., S.M.P.), and Pediatrics (M.D.K., J.L.B.), University of Utah School of Medicine, Salt Lake City; Department of Medicine (J.M.D.), Massachusetts General Hospital, Boston; Department of Neurosurgery (S.T.), Mount Sinai Hospital, Icahn School of Medicine, New York, NY; and Brain and Spine Center (J.L.B.), Primary Children's Hospital, Salt Lake City, UT.
Spyridoula TsetsouFrom the Departments of Human Genetics (K.L.R., J.A.D., L.C.M., L.B.J.), Neurology (S.B.G., K.P.F., M.B.B., S.M.P.), and Pediatrics (M.D.K., J.L.B.), University of Utah School of Medicine, Salt Lake City; Department of Medicine (J.M.D.), Massachusetts General Hospital, Boston; Department of Neurosurgery (S.T.), Mount Sinai Hospital, Icahn School of Medicine, New York, NY; and Brain and Spine Center (J.L.B.), Primary Children's Hospital, Salt Lake City, UT.
Matthew D KeefeFrom the Departments of Human Genetics (K.L.R., J.A.D., L.C.M., L.B.J.), Neurology (S.B.G., K.P.F., M.B.B., S.M.P.), and Pediatrics (M.D.K., J.L.B.), University of Utah School of Medicine, Salt Lake City; Department of Medicine (J.M.D.), Massachusetts General Hospital, Boston; Department of Neurosurgery (S.T.), Mount Sinai Hospital, Icahn School of Medicine, New York, NY; and Brain and Spine Center (J.L.B.), Primary Children's Hospital, Salt Lake City, UT.
Jerry A DuranFrom the Departments of Human Genetics (K.L.R., J.A.D., L.C.M., L.B.J.), Neurology (S.B.G., K.P.F., M.B.B., S.M.P.), and Pediatrics (M.D.K., J.L.B.), University of Utah School of Medicine, Salt Lake City; Department of Medicine (J.M.D.), Massachusetts General Hospital, Boston; Department of Neurosurgery (S.T.), Mount Sinai Hospital, Icahn School of Medicine, New York, NY; and Brain and Spine Center (J.L.B.), Primary Children's Hospital, Salt Lake City, UT.
Karla P FigueroaFrom the Departments of Human Genetics (K.L.R., J.A.D., L.C.M., L.B.J.), Neurology (S.B.G., K.P.F., M.B.B., S.M.P.), and Pediatrics (M.D.K., J.L.B.), University of Utah School of Medicine, Salt Lake City; Department of Medicine (J.M.D.), Massachusetts General Hospital, Boston; Department of Neurosurgery (S.T.), Mount Sinai Hospital, Icahn School of Medicine, New York, NY; and Brain and Spine Center (J.L.B.), Primary Children's Hospital, Salt Lake City, UT.
Mark B BrombergFrom the Departments of Human Genetics (K.L.R., J.A.D., L.C.M., L.B.J.), Neurology (S.B.G., K.P.F., M.B.B., S.M.P.), and Pediatrics (M.D.K., J.L.B.), University of Utah School of Medicine, Salt Lake City; Department of Medicine (J.M.D.), Massachusetts General Hospital, Boston; Department of Neurosurgery (S.T.), Mount Sinai Hospital, Icahn School of Medicine, New York, NY; and Brain and Spine Center (J.L.B.), Primary Children's Hospital, Salt Lake City, UT.
L Charles MurtaughFrom the Departments of Human Genetics (K.L.R., J.A.D., L.C.M., L.B.J.), Neurology (S.B.G., K.P.F., M.B.B., S.M.P.), and Pediatrics (M.D.K., J.L.B.), University of Utah School of Medicine, Salt Lake City; Department of Medicine (J.M.D.), Massachusetts General Hospital, Boston; Department of Neurosurgery (S.T.), Mount Sinai Hospital, Icahn School of Medicine, New York, NY; and Brain and Spine Center (J.L.B.), Primary Children's Hospital, Salt Lake City, UT.
Joshua L BonkowskyFrom the Departments of Human Genetics (K.L.R., J.A.D., L.C.M., L.B.J.), Neurology (S.B.G., K.P.F., M.B.B., S.M.P.), and Pediatrics (M.D.K., J.L.B.), University of Utah School of Medicine, Salt Lake City; Department of Medicine (J.M.D.), Massachusetts General Hospital, Boston; Department of Neurosurgery (S.T.), Mount Sinai Hospital, Icahn School of Medicine, New York, NY; and Brain and Spine Center (J.L.B.), Primary Children's Hospital, Salt Lake City, UT.ORCID http://orcid.org/0000-0001-8775-147X
Stefan M PulstFrom the Departments of Human Genetics (K.L.R., J.A.D., L.C.M., L.B.J.), Neurology (S.B.G., K.P.F., M.B.B., S.M.P.), and Pediatrics (M.D.K., J.L.B.), University of Utah School of Medicine, Salt Lake City; Department of Medicine (J.M.D.), Massachusetts General Hospital, Boston; Department of Neurosurgery (S.T.), Mount Sinai Hospital, Icahn School of Medicine, New York, NY; and Brain and Spine Center (J.L.B.), Primary Children's Hospital, Salt Lake City, UT.
Lynn B JordeFrom the Departments of Human Genetics (K.L.R., J.A.D., L.C.M., L.B.J.), Neurology (S.B.G., K.P.F., M.B.B., S.M.P.), and Pediatrics (M.D.K., J.L.B.), University of Utah School of Medicine, Salt Lake City; Department of Medicine (J.M.D.), Massachusetts General Hospital, Boston; Department of Neurosurgery (S.T.), Mount Sinai Hospital, Icahn School of Medicine, New York, NY; and Brain and Spine Center (J.L.B.), Primary Children's Hospital, Salt Lake City, UT.
Primary Children's Hospital · US
Funding
Utah Center for Clinical and Translational ScienceUL1TR002538 · NCATS · UNIVERSITY OF UTAH · PI HESS, RACHEL, MAJERSIK, JENNIFER JUHL · 2018 to 2022
$26.0MPOPULATION GENETICS OF MOBILE ELEMENTSR01GM059290 · NIGMS · UNIVERSITY OF UTAH · PI BATZER, MARK A, FESCHOTTE, CEDRIC · 1999 to 2018
$8.5MHuman Genetic Variation and DiseaseR35GM118335 · NIGMS · UTAH STATE HIGHER EDUCATION SYSTEM--UNIVERSITY OF UTAH · PI JORDE, LYNN · 2016 to 2025
$5.1MSpinocerebellar Ataxia Type 2 Gene and Gene ProductR37NS033123 · NINDS · UNIVERSITY OF UTAH · PI PULST, STEFAN M. · 2014 to 2020
$3.6MVAAST+: Tool for variant prioritization, risk assessment and disease-gene findingR01GM104390 · NIGMS · UNIVERSITY OF UTAH · PI JORDE, LYNN, YANDELL, MARK DOUGLAS · 2013 to 2017
$2.2MUniversity of Utah Center for clinical and Translational ScienceTL1TR001066 · NCATS · UNIVERSITY OF UTAH · PI DERE, WILLARD H., HESS, RACHEL · 2013 to 2017
$558kMechanisms of Serotonergic Regulation for Connectivity DevelopmentR21MH107039 · NIMH · UNIVERSITY OF UTAH · PI BONKOWSKY, JOSH LEITCH · 2015 to 2016
$410kNCATS NIH HHS TL1 TR001066NCATS NIH HHS UL1 TR002538NIGMS NIH HHS R01 GM059290NIGMS NIH HHS R01 GM104390NIGMS NIH HHS R35 GM118335NIMH NIH HHS R21 MH107039NINDS NIH HHS R37 NS033123
Abstract
objectiveTo identify novel disease associated loci for amyotrophic lateral sclerosis (ALS), we used sequencing data and performed in vitro and in vivo experiments to demonstrate pathogenicity of mutations identified in
methodsWe analyzed exome sequences of 87 patients with sporadic ALS and 324 controls, with confirmatory sequencing in independent ALS cohorts of >2,800 patients. For the top hit,
resultsFour heterozygous rare, nonsynonymous mutations in
conclusionTogether, these results strongly suggest that variants in
Identifiers
What OpenQuestion holds
Textmetadata
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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.