ArticleNeurology. Genetics2021
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Article in Neurology. Genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
0numbers the graph read from it
0cells of the map it votes in
19citing papers in PubMed
2.7field-weighted citation impact, top 8% 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.
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Who cites it
19 citing papers in PubMed, 31 citations in OpenAlex.
- Missense variants in TUBA4A cause myo-tubulinopathies.Brain : a journal of neurology · 2026Article
- A mouse model of autosomal dominant spastic ataxia and myopathy caused by a mutation in Tuba4a.Human molecular genetics · 2026Article
- TUBA4A: The Tale of an Unconventional Tubulin.Cytoskeleton (Hoboken, N.J.) · 2026Review
- Functional genomics reveals mediators of beta cell survival in ER stress and type 2 diabetes risk.bioRxiv : the preprint server for biology · 2026Article
- A mouse model of autosomal dominant spastic ataxia and myopathy caused by a mutation inbioRxiv : the preprint server for biology · 2026Article
- Cortex-SpecificThe Journal of neuroscience : the official journal of the Society for Neuroscience · 2025Article
- Axonopathy Underlying Amyotrophic Lateral Sclerosis: Unraveling Complex Pathways and Therapeutic Insights.Neuroscience bulletin · 2024Review
- Mutation of the ALS-/FTD-Associated RNA-Binding Protein FUS Affects Axonal Development.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2024Article
- Dysregulation of stress granule dynamics by DCTN1 deficiency exacerbates TDP-43 pathology in Drosophila models of ALS/FTD.Acta neuropathologica communications · 2024Article
- TUBA4A downregulation as observed in ALSFrontiers in cellular neuroscience · 2024Article
- Strategies for translating proteomics discoveries into drug discovery for dementia.Neural regeneration research · 2024Review
- Cryo-EM of α-tubulin isotype-containing microtubules revealed a contracted structure of α4A/β2A microtubules.Acta biochimica et biophysica Sinica · 2023Article
- A new genetic cause of spastic ataxia: the p.Glu415Lys variant in TUBA4A.Journal of neurology · 2023Article
- Review
- Frontotemporal Dementia, Where Do We Stand? A Narrative Review.International journal of molecular sciences · 2023Review
- Simple models to understand complex disease: 10 years of progress fromFrontiers in neuroscience · 2023Review
- Frontotemporal Lobar Degeneration Case with an N-TerminalBiomolecules · 2022Article
- A Multiomics Profiling Based on Online Database Revealed Prognostic Biomarkers of BLCA.BioMed research international · 2022Article
- Molecular Pathways Involved in Frontotemporal Lobar Degeneration with TDP-43 Proteinopathy: What Can We Learn from Proteomics?International journal of molecular sciences · 2021Review
Corrections and comments
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Authors and funding
13 authors at 1 institution in 2 countries.
Merel O MolDepartment of Neurology (M.O.M., T.H.W., S.M., L.D.K., H.S., J.G.J.v.R., J.C.v.S.), and Department of Cell Biology (S.B., R.V., N.G.), Erasmus Medical Center, Rotterdam; Department of Pathology (A.J.M.R.), Amsterdam University Medical Center, Location VUmc, Amsterdam Neuroscience, the Netherlands; Department of Cell and Molecular Biology (C.F.), University of Rhode Island, Kingston; Department of Neurology (J.E.L.), University of Massachusetts Medical School, Worcester; and Department of Clinical Genetics (L.D.K.), Erasmus Medical Center, Rotterdam, the Netherlands.ORCID 0000-0003-2533-2530
Tsz H WongDepartment of Neurology (M.O.M., T.H.W., S.M., L.D.K., H.S., J.G.J.v.R., J.C.v.S.), and Department of Cell Biology (S.B., R.V., N.G.), Erasmus Medical Center, Rotterdam; Department of Pathology (A.J.M.R.), Amsterdam University Medical Center, Location VUmc, Amsterdam Neuroscience, the Netherlands; Department of Cell and Molecular Biology (C.F.), University of Rhode Island, Kingston; Department of Neurology (J.E.L.), University of Massachusetts Medical School, Worcester; and Department of Clinical Genetics (L.D.K.), Erasmus Medical Center, Rotterdam, the Netherlands.
Shamiram MelhemDepartment of Neurology (M.O.M., T.H.W., S.M., L.D.K., H.S., J.G.J.v.R., J.C.v.S.), and Department of Cell Biology (S.B., R.V., N.G.), Erasmus Medical Center, Rotterdam; Department of Pathology (A.J.M.R.), Amsterdam University Medical Center, Location VUmc, Amsterdam Neuroscience, the Netherlands; Department of Cell and Molecular Biology (C.F.), University of Rhode Island, Kingston; Department of Neurology (J.E.L.), University of Massachusetts Medical School, Worcester; and Department of Clinical Genetics (L.D.K.), Erasmus Medical Center, Rotterdam, the Netherlands.
Sreya BasuDepartment of Neurology (M.O.M., T.H.W., S.M., L.D.K., H.S., J.G.J.v.R., J.C.v.S.), and Department of Cell Biology (S.B., R.V., N.G.), Erasmus Medical Center, Rotterdam; Department of Pathology (A.J.M.R.), Amsterdam University Medical Center, Location VUmc, Amsterdam Neuroscience, the Netherlands; Department of Cell and Molecular Biology (C.F.), University of Rhode Island, Kingston; Department of Neurology (J.E.L.), University of Massachusetts Medical School, Worcester; and Department of Clinical Genetics (L.D.K.), Erasmus Medical Center, Rotterdam, the Netherlands.
Riccardo ViscusiDepartment of Neurology (M.O.M., T.H.W., S.M., L.D.K., H.S., J.G.J.v.R., J.C.v.S.), and Department of Cell Biology (S.B., R.V., N.G.), Erasmus Medical Center, Rotterdam; Department of Pathology (A.J.M.R.), Amsterdam University Medical Center, Location VUmc, Amsterdam Neuroscience, the Netherlands; Department of Cell and Molecular Biology (C.F.), University of Rhode Island, Kingston; Department of Neurology (J.E.L.), University of Massachusetts Medical School, Worcester; and Department of Clinical Genetics (L.D.K.), Erasmus Medical Center, Rotterdam, the Netherlands.
Niels GaljartDepartment of Neurology (M.O.M., T.H.W., S.M., L.D.K., H.S., J.G.J.v.R., J.C.v.S.), and Department of Cell Biology (S.B., R.V., N.G.), Erasmus Medical Center, Rotterdam; Department of Pathology (A.J.M.R.), Amsterdam University Medical Center, Location VUmc, Amsterdam Neuroscience, the Netherlands; Department of Cell and Molecular Biology (C.F.), University of Rhode Island, Kingston; Department of Neurology (J.E.L.), University of Massachusetts Medical School, Worcester; and Department of Clinical Genetics (L.D.K.), Erasmus Medical Center, Rotterdam, the Netherlands.ORCID 0000-0003-1964-3607
Annemieke J M RozemullerDepartment of Neurology (M.O.M., T.H.W., S.M., L.D.K., H.S., J.G.J.v.R., J.C.v.S.), and Department of Cell Biology (S.B., R.V., N.G.), Erasmus Medical Center, Rotterdam; Department of Pathology (A.J.M.R.), Amsterdam University Medical Center, Location VUmc, Amsterdam Neuroscience, the Netherlands; Department of Cell and Molecular Biology (C.F.), University of Rhode Island, Kingston; Department of Neurology (J.E.L.), University of Massachusetts Medical School, Worcester; and Department of Clinical Genetics (L.D.K.), Erasmus Medical Center, Rotterdam, the Netherlands.
Claudia FalliniDepartment of Neurology (M.O.M., T.H.W., S.M., L.D.K., H.S., J.G.J.v.R., J.C.v.S.), and Department of Cell Biology (S.B., R.V., N.G.), Erasmus Medical Center, Rotterdam; Department of Pathology (A.J.M.R.), Amsterdam University Medical Center, Location VUmc, Amsterdam Neuroscience, the Netherlands; Department of Cell and Molecular Biology (C.F.), University of Rhode Island, Kingston; Department of Neurology (J.E.L.), University of Massachusetts Medical School, Worcester; and Department of Clinical Genetics (L.D.K.), Erasmus Medical Center, Rotterdam, the Netherlands.
John E LandersDepartment of Neurology (M.O.M., T.H.W., S.M., L.D.K., H.S., J.G.J.v.R., J.C.v.S.), and Department of Cell Biology (S.B., R.V., N.G.), Erasmus Medical Center, Rotterdam; Department of Pathology (A.J.M.R.), Amsterdam University Medical Center, Location VUmc, Amsterdam Neuroscience, the Netherlands; Department of Cell and Molecular Biology (C.F.), University of Rhode Island, Kingston; Department of Neurology (J.E.L.), University of Massachusetts Medical School, Worcester; and Department of Clinical Genetics (L.D.K.), Erasmus Medical Center, Rotterdam, the Netherlands.
Laura Donker KaatDepartment of Neurology (M.O.M., T.H.W., S.M., L.D.K., H.S., J.G.J.v.R., J.C.v.S.), and Department of Cell Biology (S.B., R.V., N.G.), Erasmus Medical Center, Rotterdam; Department of Pathology (A.J.M.R.), Amsterdam University Medical Center, Location VUmc, Amsterdam Neuroscience, the Netherlands; Department of Cell and Molecular Biology (C.F.), University of Rhode Island, Kingston; Department of Neurology (J.E.L.), University of Massachusetts Medical School, Worcester; and Department of Clinical Genetics (L.D.K.), Erasmus Medical Center, Rotterdam, the Netherlands.
Harro SeelaarDepartment of Neurology (M.O.M., T.H.W., S.M., L.D.K., H.S., J.G.J.v.R., J.C.v.S.), and Department of Cell Biology (S.B., R.V., N.G.), Erasmus Medical Center, Rotterdam; Department of Pathology (A.J.M.R.), Amsterdam University Medical Center, Location VUmc, Amsterdam Neuroscience, the Netherlands; Department of Cell and Molecular Biology (C.F.), University of Rhode Island, Kingston; Department of Neurology (J.E.L.), University of Massachusetts Medical School, Worcester; and Department of Clinical Genetics (L.D.K.), Erasmus Medical Center, Rotterdam, the Netherlands.ORCID 0000-0003-1989-7527
Jeroen G J van RooijDepartment of Neurology (M.O.M., T.H.W., S.M., L.D.K., H.S., J.G.J.v.R., J.C.v.S.), and Department of Cell Biology (S.B., R.V., N.G.), Erasmus Medical Center, Rotterdam; Department of Pathology (A.J.M.R.), Amsterdam University Medical Center, Location VUmc, Amsterdam Neuroscience, the Netherlands; Department of Cell and Molecular Biology (C.F.), University of Rhode Island, Kingston; Department of Neurology (J.E.L.), University of Massachusetts Medical School, Worcester; and Department of Clinical Genetics (L.D.K.), Erasmus Medical Center, Rotterdam, the Netherlands.
John C van SwietenDepartment of Neurology (M.O.M., T.H.W., S.M., L.D.K., H.S., J.G.J.v.R., J.C.v.S.), and Department of Cell Biology (S.B., R.V., N.G.), Erasmus Medical Center, Rotterdam; Department of Pathology (A.J.M.R.), Amsterdam University Medical Center, Location VUmc, Amsterdam Neuroscience, the Netherlands; Department of Cell and Molecular Biology (C.F.), University of Rhode Island, Kingston; Department of Neurology (J.E.L.), University of Massachusetts Medical School, Worcester; and Department of Clinical Genetics (L.D.K.), Erasmus Medical Center, Rotterdam, the Netherlands.
University of Massachusetts Chan Medical School · US
Funding
Identification of genes causative for familial ALS gene using exome sequencingR01NS073873 · NINDS · UNIV OF MASSACHUSETTS MED SCH WORCESTER · PI LANDERS, JOHN E · 2011 to 2019
$4.6MIdentification and Characterization of ALS/FTD Associated Variants Using Whole Genome SequencingR56NS073873 · NINDS · UNIV OF MASSACHUSETTS MED SCH WORCESTER · PI LANDERS, JOHN E · 2020 to 2020
$586kNINDS NIH HHS R01 NS073873NINDS NIH HHS R56 NS073873
Abstract
objectiveDespite the strong genetic component of frontotemporal dementia (FTD), a substantial proportion of patients remain genetically unresolved. We performed an in-depth study of a family with an autosomal dominant form of FTD to investigate the underlying genetic cause.
methodsFollowing clinical and pathologic characterization of the family, genetic studies included haplotype sharing analysis and exome sequencing. Subsequently, we performed immunohistochemistry, immunoblotting, and a microtubule repolymerization assay to investigate the potential impact of the candidate variant in tubulin alpha 4a (
resultsThe clinical presentation in this family is heterogeneous, including behavioral changes, parkinsonian features, and uncharacterized dementia. Neuropathologic examination of 2 patients revealed TAR DNA binding protein 43 (TDP-43) pathology with abundant dystrophic neurites and neuronal intranuclear inclusions, consistent with frontotemporal lobar degeneration-TDP type A. We identified a likely pathogenic variant in
conclusionsOur findings support the role of
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