ArticleNeurology2021
DYT-TUBB4A (DYT4 Dystonia): New Clinical and Genetic Observations.
Open access · greenAbstract read
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 11 papers.
0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed
0.8field-weighted citation impact, top 30% 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
11 citing papers in PubMed, 20 citations in OpenAlex.
- A Twisting Diagnosis: A New Case of VPS16-Related Hyperkinetic Spectrum and Literature Review.Movement disorders clinical practice · 2026Article
- Rediscovery of the Tubulin β-4A p.Arg2Gly Variant in Whispering Dysphonia: A Report from Austria.Movement disorders : official journal of the Movement Disorder Society · 2025Article
- Pediatric Genetic Dystonias: Current Diagnostic Approaches and Treatment Options.Life (Basel, Switzerland) · 2025Review
- Alternative Deep Brain Stimulation Targets in the Treatment of Isolated Dystonic Syndromes: A Multicenter Experience-Based Survey.Movement disorders clinical practice · 2025Article
- Childhood-onset writer's cramp, with later ataxia: A clue to COQ8A-related disorders.Parkinsonism & related disorders · 2024Article
- Molecular Pathogenic Mechanisms of Hypomyelinating Leukodystrophies (HLDs).Neurology international · 2023Review
- Genetic Screening of a Hungarian Cohort with Focal Dystonia Identified Several Novel Putative Pathogenic Gene Variants.International journal of molecular sciences · 2023Article
- DYT-TUBB4A (DYT4 Dystonia): Clinical Anthology of 11 Cases and Systematized Review.Movement disorders clinical practice · 2022Review
- H-ABC- and dystonia-causingScience advances · 2022Article
- Oligodendrocyte and Extracellular Matrix Contributions to Central Nervous System Motor Function: Implications for Dystonia.Movement disorders : official journal of the Movement Disorder Society · 2022Review
- Novel advanced patient-derivedFrontiers in neurologyReview
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
13 authors at 1 institution in 4 countries.
Julien F BallyFrom the Edmond J. Safra Program in Parkinson's Disease and the Morton and Gloria Shulman Movement Disorders Clinic (J.F.B., A.E.L.), Toronto Western Hospital and University of Toronto, Ontario, Canada; Department of Neurology (J.F.B.), University of Geneva and University Hospitals of Geneva, Switzerland; Department of Internal Medicine (S.C., F.C.), Universidade Federal de Minas Gerais, Belo Horizonte; Hospital Israelita Albert Einstein (C.O.d.S., R.D.P., P.d.C.A.), Sao Paulo, SP, Brazil; Departments of Neurology (D.S.K., T.L.) and Neurosurgery (D.S.K.), University of Colorado School of Medicine; Aurora; Department of Neurology and Neurosurgery (F.P.d.S.-J., E.R.B., P.d.C.A.), Universidade Federal de Sao Paulo, SP, Brazil; and Department of Neurology (R.Y., L.J.O.), Massachusetts General Hospital, Boston. Dr. Bally is currently at Service of Neurology, Department of Clinical Neurosciences, Lausanne University Hospital and University of Lausanne, Switzerland.ORCID 0000-0002-0970-8844
Sarah CamargosFrom the Edmond J. Safra Program in Parkinson's Disease and the Morton and Gloria Shulman Movement Disorders Clinic (J.F.B., A.E.L.), Toronto Western Hospital and University of Toronto, Ontario, Canada; Department of Neurology (J.F.B.), University of Geneva and University Hospitals of Geneva, Switzerland; Department of Internal Medicine (S.C., F.C.), Universidade Federal de Minas Gerais, Belo Horizonte; Hospital Israelita Albert Einstein (C.O.d.S., R.D.P., P.d.C.A.), Sao Paulo, SP, Brazil; Departments of Neurology (D.S.K., T.L.) and Neurosurgery (D.S.K.), University of Colorado School of Medicine; Aurora; Department of Neurology and Neurosurgery (F.P.d.S.-J., E.R.B., P.d.C.A.), Universidade Federal de Sao Paulo, SP, Brazil; and Department of Neurology (R.Y., L.J.O.), Massachusetts General Hospital, Boston. Dr. Bally is currently at Service of Neurology, Department of Clinical Neurosciences, Lausanne University Hospital and University of Lausanne, Switzerland.
Camila Oliveira Dos SantosFrom the Edmond J. Safra Program in Parkinson's Disease and the Morton and Gloria Shulman Movement Disorders Clinic (J.F.B., A.E.L.), Toronto Western Hospital and University of Toronto, Ontario, Canada; Department of Neurology (J.F.B.), University of Geneva and University Hospitals of Geneva, Switzerland; Department of Internal Medicine (S.C., F.C.), Universidade Federal de Minas Gerais, Belo Horizonte; Hospital Israelita Albert Einstein (C.O.d.S., R.D.P., P.d.C.A.), Sao Paulo, SP, Brazil; Departments of Neurology (D.S.K., T.L.) and Neurosurgery (D.S.K.), University of Colorado School of Medicine; Aurora; Department of Neurology and Neurosurgery (F.P.d.S.-J., E.R.B., P.d.C.A.), Universidade Federal de Sao Paulo, SP, Brazil; and Department of Neurology (R.Y., L.J.O.), Massachusetts General Hospital, Boston. Dr. Bally is currently at Service of Neurology, Department of Clinical Neurosciences, Lausanne University Hospital and University of Lausanne, Switzerland.
Drew S KernFrom the Edmond J. Safra Program in Parkinson's Disease and the Morton and Gloria Shulman Movement Disorders Clinic (J.F.B., A.E.L.), Toronto Western Hospital and University of Toronto, Ontario, Canada; Department of Neurology (J.F.B.), University of Geneva and University Hospitals of Geneva, Switzerland; Department of Internal Medicine (S.C., F.C.), Universidade Federal de Minas Gerais, Belo Horizonte; Hospital Israelita Albert Einstein (C.O.d.S., R.D.P., P.d.C.A.), Sao Paulo, SP, Brazil; Departments of Neurology (D.S.K., T.L.) and Neurosurgery (D.S.K.), University of Colorado School of Medicine; Aurora; Department of Neurology and Neurosurgery (F.P.d.S.-J., E.R.B., P.d.C.A.), Universidade Federal de Sao Paulo, SP, Brazil; and Department of Neurology (R.Y., L.J.O.), Massachusetts General Hospital, Boston. Dr. Bally is currently at Service of Neurology, Department of Clinical Neurosciences, Lausanne University Hospital and University of Lausanne, Switzerland.
Teresa LeeFrom the Edmond J. Safra Program in Parkinson's Disease and the Morton and Gloria Shulman Movement Disorders Clinic (J.F.B., A.E.L.), Toronto Western Hospital and University of Toronto, Ontario, Canada; Department of Neurology (J.F.B.), University of Geneva and University Hospitals of Geneva, Switzerland; Department of Internal Medicine (S.C., F.C.), Universidade Federal de Minas Gerais, Belo Horizonte; Hospital Israelita Albert Einstein (C.O.d.S., R.D.P., P.d.C.A.), Sao Paulo, SP, Brazil; Departments of Neurology (D.S.K., T.L.) and Neurosurgery (D.S.K.), University of Colorado School of Medicine; Aurora; Department of Neurology and Neurosurgery (F.P.d.S.-J., E.R.B., P.d.C.A.), Universidade Federal de Sao Paulo, SP, Brazil; and Department of Neurology (R.Y., L.J.O.), Massachusetts General Hospital, Boston. Dr. Bally is currently at Service of Neurology, Department of Clinical Neurosciences, Lausanne University Hospital and University of Lausanne, Switzerland.
Francisco Pereira da Silva-JuniorFrom the Edmond J. Safra Program in Parkinson's Disease and the Morton and Gloria Shulman Movement Disorders Clinic (J.F.B., A.E.L.), Toronto Western Hospital and University of Toronto, Ontario, Canada; Department of Neurology (J.F.B.), University of Geneva and University Hospitals of Geneva, Switzerland; Department of Internal Medicine (S.C., F.C.), Universidade Federal de Minas Gerais, Belo Horizonte; Hospital Israelita Albert Einstein (C.O.d.S., R.D.P., P.d.C.A.), Sao Paulo, SP, Brazil; Departments of Neurology (D.S.K., T.L.) and Neurosurgery (D.S.K.), University of Colorado School of Medicine; Aurora; Department of Neurology and Neurosurgery (F.P.d.S.-J., E.R.B., P.d.C.A.), Universidade Federal de Sao Paulo, SP, Brazil; and Department of Neurology (R.Y., L.J.O.), Massachusetts General Hospital, Boston. Dr. Bally is currently at Service of Neurology, Department of Clinical Neurosciences, Lausanne University Hospital and University of Lausanne, Switzerland.
Renato David PugaFrom the Edmond J. Safra Program in Parkinson's Disease and the Morton and Gloria Shulman Movement Disorders Clinic (J.F.B., A.E.L.), Toronto Western Hospital and University of Toronto, Ontario, Canada; Department of Neurology (J.F.B.), University of Geneva and University Hospitals of Geneva, Switzerland; Department of Internal Medicine (S.C., F.C.), Universidade Federal de Minas Gerais, Belo Horizonte; Hospital Israelita Albert Einstein (C.O.d.S., R.D.P., P.d.C.A.), Sao Paulo, SP, Brazil; Departments of Neurology (D.S.K., T.L.) and Neurosurgery (D.S.K.), University of Colorado School of Medicine; Aurora; Department of Neurology and Neurosurgery (F.P.d.S.-J., E.R.B., P.d.C.A.), Universidade Federal de Sao Paulo, SP, Brazil; and Department of Neurology (R.Y., L.J.O.), Massachusetts General Hospital, Boston. Dr. Bally is currently at Service of Neurology, Department of Clinical Neurosciences, Lausanne University Hospital and University of Lausanne, Switzerland.
Francisco CardosoFrom the Edmond J. Safra Program in Parkinson's Disease and the Morton and Gloria Shulman Movement Disorders Clinic (J.F.B., A.E.L.), Toronto Western Hospital and University of Toronto, Ontario, Canada; Department of Neurology (J.F.B.), University of Geneva and University Hospitals of Geneva, Switzerland; Department of Internal Medicine (S.C., F.C.), Universidade Federal de Minas Gerais, Belo Horizonte; Hospital Israelita Albert Einstein (C.O.d.S., R.D.P., P.d.C.A.), Sao Paulo, SP, Brazil; Departments of Neurology (D.S.K., T.L.) and Neurosurgery (D.S.K.), University of Colorado School of Medicine; Aurora; Department of Neurology and Neurosurgery (F.P.d.S.-J., E.R.B., P.d.C.A.), Universidade Federal de Sao Paulo, SP, Brazil; and Department of Neurology (R.Y., L.J.O.), Massachusetts General Hospital, Boston. Dr. Bally is currently at Service of Neurology, Department of Clinical Neurosciences, Lausanne University Hospital and University of Lausanne, Switzerland.
Egberto Reis BarbosaFrom the Edmond J. Safra Program in Parkinson's Disease and the Morton and Gloria Shulman Movement Disorders Clinic (J.F.B., A.E.L.), Toronto Western Hospital and University of Toronto, Ontario, Canada; Department of Neurology (J.F.B.), University of Geneva and University Hospitals of Geneva, Switzerland; Department of Internal Medicine (S.C., F.C.), Universidade Federal de Minas Gerais, Belo Horizonte; Hospital Israelita Albert Einstein (C.O.d.S., R.D.P., P.d.C.A.), Sao Paulo, SP, Brazil; Departments of Neurology (D.S.K., T.L.) and Neurosurgery (D.S.K.), University of Colorado School of Medicine; Aurora; Department of Neurology and Neurosurgery (F.P.d.S.-J., E.R.B., P.d.C.A.), Universidade Federal de Sao Paulo, SP, Brazil; and Department of Neurology (R.Y., L.J.O.), Massachusetts General Hospital, Boston. Dr. Bally is currently at Service of Neurology, Department of Clinical Neurosciences, Lausanne University Hospital and University of Lausanne, Switzerland.
Rachita YadavFrom the Edmond J. Safra Program in Parkinson's Disease and the Morton and Gloria Shulman Movement Disorders Clinic (J.F.B., A.E.L.), Toronto Western Hospital and University of Toronto, Ontario, Canada; Department of Neurology (J.F.B.), University of Geneva and University Hospitals of Geneva, Switzerland; Department of Internal Medicine (S.C., F.C.), Universidade Federal de Minas Gerais, Belo Horizonte; Hospital Israelita Albert Einstein (C.O.d.S., R.D.P., P.d.C.A.), Sao Paulo, SP, Brazil; Departments of Neurology (D.S.K., T.L.) and Neurosurgery (D.S.K.), University of Colorado School of Medicine; Aurora; Department of Neurology and Neurosurgery (F.P.d.S.-J., E.R.B., P.d.C.A.), Universidade Federal de Sao Paulo, SP, Brazil; and Department of Neurology (R.Y., L.J.O.), Massachusetts General Hospital, Boston. Dr. Bally is currently at Service of Neurology, Department of Clinical Neurosciences, Lausanne University Hospital and University of Lausanne, Switzerland.
Laurie J OzeliusFrom the Edmond J. Safra Program in Parkinson's Disease and the Morton and Gloria Shulman Movement Disorders Clinic (J.F.B., A.E.L.), Toronto Western Hospital and University of Toronto, Ontario, Canada; Department of Neurology (J.F.B.), University of Geneva and University Hospitals of Geneva, Switzerland; Department of Internal Medicine (S.C., F.C.), Universidade Federal de Minas Gerais, Belo Horizonte; Hospital Israelita Albert Einstein (C.O.d.S., R.D.P., P.d.C.A.), Sao Paulo, SP, Brazil; Departments of Neurology (D.S.K., T.L.) and Neurosurgery (D.S.K.), University of Colorado School of Medicine; Aurora; Department of Neurology and Neurosurgery (F.P.d.S.-J., E.R.B., P.d.C.A.), Universidade Federal de Sao Paulo, SP, Brazil; and Department of Neurology (R.Y., L.J.O.), Massachusetts General Hospital, Boston. Dr. Bally is currently at Service of Neurology, Department of Clinical Neurosciences, Lausanne University Hospital and University of Lausanne, Switzerland.
Patricia de Carvalho AguiarFrom the Edmond J. Safra Program in Parkinson's Disease and the Morton and Gloria Shulman Movement Disorders Clinic (J.F.B., A.E.L.), Toronto Western Hospital and University of Toronto, Ontario, Canada; Department of Neurology (J.F.B.), University of Geneva and University Hospitals of Geneva, Switzerland; Department of Internal Medicine (S.C., F.C.), Universidade Federal de Minas Gerais, Belo Horizonte; Hospital Israelita Albert Einstein (C.O.d.S., R.D.P., P.d.C.A.), Sao Paulo, SP, Brazil; Departments of Neurology (D.S.K., T.L.) and Neurosurgery (D.S.K.), University of Colorado School of Medicine; Aurora; Department of Neurology and Neurosurgery (F.P.d.S.-J., E.R.B., P.d.C.A.), Universidade Federal de Sao Paulo, SP, Brazil; and Department of Neurology (R.Y., L.J.O.), Massachusetts General Hospital, Boston. Dr. Bally is currently at Service of Neurology, Department of Clinical Neurosciences, Lausanne University Hospital and University of Lausanne, Switzerland.
Anthony E LangFrom the Edmond J. Safra Program in Parkinson's Disease and the Morton and Gloria Shulman Movement Disorders Clinic (J.F.B., A.E.L.), Toronto Western Hospital and University of Toronto, Ontario, Canada; Department of Neurology (J.F.B.), University of Geneva and University Hospitals of Geneva, Switzerland; Department of Internal Medicine (S.C., F.C.), Universidade Federal de Minas Gerais, Belo Horizonte; Hospital Israelita Albert Einstein (C.O.d.S., R.D.P., P.d.C.A.), Sao Paulo, SP, Brazil; Departments of Neurology (D.S.K., T.L.) and Neurosurgery (D.S.K.), University of Colorado School of Medicine; Aurora; Department of Neurology and Neurosurgery (F.P.d.S.-J., E.R.B., P.d.C.A.), Universidade Federal de Sao Paulo, SP, Brazil; and Department of Neurology (R.Y., L.J.O.), Massachusetts General Hospital, Boston. Dr. Bally is currently at Service of Neurology, Department of Clinical Neurosciences, Lausanne University Hospital and University of Lausanne, Switzerland. Lang@uhnresearch.ca.
Universidade Federal de Minas Gerais · BR
Funding
TorsinA as a key link in receptor-mediated signalingP01NS087997 · NINDS · MASSACHUSETTS GENERAL HOSPITAL · PI STANDAERT, DAVID G. · 2015 to 2019
$6.4MNINDS NIH HHS P01 NS087997
Abstract
objectiveTo report 4 novel
methodsWe screened 4 families including a total of 11 definitely affected members with a clinical picture resembling the original description.
resultsFour novel variants in the
conclusionsOur interpretation is that laryngeal involvement is a hallmark feature of DYT-TUBB4A. Nevertheless,
Indexed as
AdolescentAdultChildChild, PreschoolDystoniaDystonia Musculorum DeformansFemaleHumansMaleMiddle AgedPedigreePolymorphism, Single NucleotideTubulinVoice DisordersYoung AdultTUBB4A protein, humanTubulin
Identifiers
What OpenQuestion holds
Textmetadata
Read underepoch 390
Registered trials
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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.