ArticleBrain communications2020
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Article in Brain communications, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
0numbers the graph read from it
0cells of the map it votes in
30citing papers in PubMed
3.3field-weighted citation impact, top 6% 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
30 citing papers in PubMed, 55 citations in OpenAlex.
- Zebrafish knockout models of atxn1a, atxn1b, and atxn1l reveal distinct and shared phenotypic and transcriptomic alterations.Human molecular genetics · 2026Article
- Repeat expansions in Parkinson's disease and parkinsonism across ancestries: insights from a global genetic cohort.medRxiv : the preprint server for health sciences · 2026Article
- Entering the era of precision medicine to treat amyotrophic lateral sclerosis.Molecular neurodegeneration · 2025Review
- Oligogenic structure of amyotrophic lateral sclerosis has genetic testing, counselling and therapeutic implications.Journal of neurology, neurosurgery, and psychiatry · 2025Article
- Analysis of short tandem repeats linked to polyglutamine diseases from whole-genome sequencing reveals intermediate alleles ofBrain communications · 2025Article
- The role of disease-associated short tandem repeats in amyotrophic lateral sclerosis.Brain communications · 2025Article
- Pathogenic TDP-43 accelerates the generation of toxic exon1 HTT in Huntington's disease knock-in mice.Aging cell · 2024Article
- An Update on the Adult-Onset Hereditary Cerebellar Ataxias: Novel Genetic Causes and New Diagnostic Approaches.Cerebellum (London, England) · 2024Review
- TDP43 and huntingtin Exon-1 undergo a conformationally specific interaction that strongly alters the fibril formation of both proteins.The Journal of biological chemistry · 2024Article
- ATAXIN-2 intermediate-length polyglutamine expansions elicit ALS-associated metabolic and immune phenotypes.Nature communications · 2024Article
- Investigating Repeat Expansions inCells · 2024Article
- Beyond C9orf72: repeat expansions and copy number variations as risk factors of amyotrophic lateral sclerosis across various populations.BMC medical genomics · 2024Review
- Repeat expansions inBrain communications · 2024Article
- Amyotrophic lateral sclerosis: translating genetic discoveries into therapies.Nature reviews. Genetics · 2023Review
- Short tandem repeat expansions in sporadic amyotrophic lateral sclerosis and frontotemporal dementia.Science advances · 2023Article
- Resting state fMRI analysis of pseudobulbar affect in Amyotrophic Lateral Sclerosis (ALS): motor dysfunction of emotional expression.Brain imaging and behavior · 2023Article
- The impact of age on genetic testing decisions in amyotrophic lateral sclerosis.Brain : a journal of neurology · 2022Article
- Cerebellar pathology in motor neuron disease: neuroplasticity and neurodegeneration.Neural regeneration research · 2022Review
- Amyotrophic lateral sclerosis and cerebellum.Scientific reports · 2022Article
- A polymorphic transcriptional regulatory domain in the amyotrophic lateral sclerosis risk geneFrontiers in molecular neuroscience · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
39 authors at 15 institutions in 8 countries.
Gijs H P TazelaarDepartment of Neurology, Brain Center Rudolf Magnus, University Medical Center, Utrecht, University of Utrecht, 3508 GA, Utrecht, The Netherlands.
Steven BoeynaemsDivision of Experimental Neurology, Department of Neurosciences, KU Leuven-University of Leuven, Leuven 3000, Belgium.
Mathias De DeckerDivision of Experimental Neurology, Department of Neurosciences, KU Leuven-University of Leuven, Leuven 3000, Belgium.
Joke J F A van VugtDepartment of Neurology, Brain Center Rudolf Magnus, University Medical Center, Utrecht, University of Utrecht, 3508 GA, Utrecht, The Netherlands.
Lindy KoolDepartment of Neurology, Brain Center Rudolf Magnus, University Medical Center, Utrecht, University of Utrecht, 3508 GA, Utrecht, The Netherlands.
H Stephan GoedeeDepartment of Neurology, Brain Center Rudolf Magnus, University Medical Center, Utrecht, University of Utrecht, 3508 GA, Utrecht, The Netherlands.
Russell L McLaughlinPopulation Genetics Laboratory, Smurfit Institute of Genetics, Trinity College Dublin, Dublin D02 PN40, Republic of Ireland.
William SprovieroDepartment of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute and United Kingdom Dementia Research Institute, King's College London, London SE5 9NU, UK.
Alfredo IacoangeliDepartment of Biostatistics & Health Informatics, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London SE5 9NU, UK.
Matthieu MoisseDivision of Experimental Neurology, Department of Neurosciences, KU Leuven-University of Leuven, Leuven 3000, Belgium.
Maarten JacquemynKU Leuven Department of Microbiology and Immunology, Laboratory of Virology and Chemotherapy, Rega Institute, KU Leuven, 3000 Leuven, Belgium.
Dirk DaelemansKU Leuven Department of Microbiology and Immunology, Laboratory of Virology and Chemotherapy, Rega Institute, KU Leuven, 3000 Leuven, Belgium.
Annelot M DekkerDepartment of Neurology, Brain Center Rudolf Magnus, University Medical Center, Utrecht, University of Utrecht, 3508 GA, Utrecht, The Netherlands.
Rick A van der SpekDepartment of Neurology, Brain Center Rudolf Magnus, University Medical Center, Utrecht, University of Utrecht, 3508 GA, Utrecht, The Netherlands.
Henk-Jan WestenengDepartment of Neurology, Brain Center Rudolf Magnus, University Medical Center, Utrecht, University of Utrecht, 3508 GA, Utrecht, The Netherlands.
Kevin P KennaDepartment of Neurology, Brain Center Rudolf Magnus, University Medical Center, Utrecht, University of Utrecht, 3508 GA, Utrecht, The Netherlands.
Abdelilah AssialiouiServei de Neurologia, IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona 08908, Spain.
Nica Da SilvaDepartment of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute and United Kingdom Dementia Research Institute, King's College London, London SE5 9NU, UK.
Project MinE ALS Sequencing Consortium
Mónica PovedanoServei de Neurologia, IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona 08908, Spain.
Jesus S Mora PardinaALS Unit, Hospital San Rafael, Madrid 28016, Spain.
Orla HardimanAcademic Unit of Neurology, Trinity College Dublin, Trinity Biomedical Sciences Institute, Dublin D02 PN40, Republic of Ireland.
François SalachasCentre de compétence SLA-Département de Neurologie, Hôpital Pitié-Salpêtrière, Paris 75651, France.
Stéphanie MillecampsInstitut du Cerveau et de la Moelle Epinière, INSERM U1127, CNRS UMR7225, Sorbonne Universités, Paris 75651, France.
Patrick Vourc'hINSERM U930, Université François Rabelais, Tours 92120, France.
Philippe CorciaCentre de compétence SLA-fédération Tours-Limoges, Tours 92120, France.ORCID 0000-0002-1625-8845
Philippe CouratierCentre de compétence SLA-fédération Tours-Limoges, Limoges 87100, France.
Karen E MorrisonFaculty of Medicine, University of Southampton, Southampton SO17 1BJ, UK.
Pamela J ShawSheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield S10 2HQ, UK.
Christopher E ShawDepartment of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute and United Kingdom Dementia Research Institute, King's College London, London SE5 9NU, UK.
R Jeroen PasterkampDepartment of Translational Neuroscience, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, Utrecht University, 3508 GA, Utrecht, The Netherlands.
John E LandersDepartment of Neurology, University of Massachusetts Medical School, Worcester, MA 01655, USA.
Ludo Van Den BoschDivision of Experimental Neurology, Department of Neurosciences, KU Leuven-University of Leuven, Leuven 3000, Belgium.
Wim RobberechtDivision of Experimental Neurology, Department of Neurosciences, KU Leuven-University of Leuven, Leuven 3000, Belgium.
Ammar Al-ChalabiDepartment of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute and United Kingdom Dementia Research Institute, King's College London, London SE5 9NU, UK.
Leonard H van den BergDepartment of Neurology, Brain Center Rudolf Magnus, University Medical Center, Utrecht, University of Utrecht, 3508 GA, Utrecht, The Netherlands.
Philip Van DammeDivision of Experimental Neurology, Department of Neurosciences, KU Leuven-University of Leuven, Leuven 3000, Belgium.ORCID 0000-0002-4010-2357
Jan H VeldinkDepartment of Neurology, Brain Center Rudolf Magnus, University Medical Center, Utrecht, University of Utrecht, 3508 GA, Utrecht, The Netherlands.
Michael A van EsDepartment of Neurology, Brain Center Rudolf Magnus, University Medical Center, Utrecht, University of Utrecht, 3508 GA, Utrecht, The Netherlands.ORCID 0000-0002-7709-5883
Utrecht University · NLKing's College London · GBVIB-KU Leuven Center for Brain & Disease Research · BETrinity College Dublin · IEBellvitge University Hospital · ESCentre National de la Recherche Scientifique · FRRega Institute for Medical Research · BECentre Hospitalier Universitaire de Limoges · FRCentre Hospitalier Universitaire de Tours · FRHospital Universitario San Rafael · ESUniversité de Tours · FRUniversity of Massachusetts Chan Medical School · USUniversity of Sheffield · GBUniversity of Southampton · GBHeidelberg University · DE
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
$586kMedical Research Council G0600974Medical Research Council MR/L501529/1Medical Research Council MR/R024804/1Motor Neurone Disease Association AL-CHALABI/APR15/844-791Motor Neurone Disease Association ALCHALABI-DOBSON/APR14/829-791Motor Neurone Disease Association MCLAUGHLIN/OCT15/957-799NINDS NIH HHS R01 NS073873NINDS NIH HHS R56 NS073873Wellcome Trust
Abstract
Increasingly, repeat expansions are being identified as part of the complex genetic architecture of amyotrophic lateral sclerosis. To date, several repeat expansions have been genetically associated with the disease: intronic repeat expansions in
Indexed as
amyotrophic lateral sclerosisDNA repeat expansiongenetic association studytrinucleotide repeat expansions
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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.