ArticleJournal of neurology, neurosurgery, and psychiatry2024
Intronic
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Article in Journal of neurology, neurosurgery, and psychiatry, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers, 2 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
34citing papers in PubMed, 2 pooled it
6.6field-weighted citation impact, top 2% 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
34 citing papers in PubMed, 2 syntheses or guidelines pooled it, 44 citations in OpenAlex.
- Spinocerebellar ataxia 27B (SCA27B)-a systematic review and a case report of a Polish family.Journal of applied genetics · 2025Pooled it
- The Spectrum of Peripheral-Vestibular Deficits and Their Change Over Time in CANVAS/RFC1-Related Ataxia Systematic Review and Meta-Analysis of Quantitative Head-Impulse Testing.Cerebellum (London, England) · 2025Pooled it
- An update on neuro-otology and neuro-ophthalmology - focusing on new developments in the last three years.Journal of neurology · 2026Review
- Association of Bilateral Vestibulopathy With theNeurology. Genetics · 2026Article
- Frequency and phenotype of GAA-FGF14 disease in bilateral vestibulopathy syndromes: insights from repeat expansion carriers, including a case of co-occurrence with RFC1-related CANVAS.Journal of neurology · 2026Article
- Repeat-associated ataxias in a German patient cohort analysed by targeted parallel long-read sequencing.Brain : a journal of neurology · 2026Article
- Oculomotor abnormalities in patients with cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) reflect midline cerebellar impairment.Journal of neurology · 2026Article
- Video head impulse test differentiates RFC1-CANVAS, FGF14-SCA27B, and idiopathic late-onset cerebellar ataxias.Journal of neurology · 2025Article
- Intronic FGF14 GAA repeat expansions impact progression and survival in multiple system atrophy.Brain : a journal of neurology · 2025Article
- Late-onset cerebellar ataxia in three European patients with repeat expansions in RFC1 and FGF14: a case series.Journal of neurology · 2025Article
- ONT in Clinical Diagnostics of Repeat Expansion Disorders: Detection and Reporting Challenges.International journal of molecular sciences · 2025Article
- Frequency of FGF14 intronic GAA repeat expansion in patients with multiple system atrophy and undiagnosed ataxia in the Japanese population.European journal of human genetics : EJHG · 2025Article
- Recent Advances in the Genetics of Ataxias: An Update on Novel Autosomal Dominant Repeat Expansions.Current neurology and neuroscience reports · 2025Review
- Enhanced detection and genotyping of disease-associated tandem repeats using HMMSTR and targeted long-read sequencing.Nucleic acids research · 2025Article
- Diagnostic yield and limitations of whole-genome sequencing for hereditary cerebellar ataxia.Brain communications · 2025Article
- Fibroblast Growth Factors: Roles and Emerging Therapeutic Applications.Current drug targets · 2025Review
- TheBrain communications · 2025Article
- Nerve ultrasound, neuronopathy and cough predict sensory neuropathy patients withBrain communications · 2025Article
- Possible mechanisms connecting cerebellar ataxias and bilateral vestibular weakness: diagnostic and therapeutic implications.Journal of neurology · 2024Article
- Stabilization of expandable DNA repeats by the replication factor Mcm10 promotes cell viability.Nature communications · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
22 authors at 12 institutions in 8 countries.
David Pellerin *Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, University College London, London, UK matthis.synofzik@uni-tuebingen.de david.pellerin.21@ucl.ac.uk.ORCID 0000-0002-5807-995X
Carlo Wilke *Research Division Translational Genomics of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany.ORCID 0000-0002-7250-8597
Andreas TraschützResearch Division Translational Genomics of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany.
Sara NagyDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, University College London, London, UK.
Riccardo CurròDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, University College London, London, UK.
Marie-Josée DicaireDepartment of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, QC, Canada.
Hector Garcia-MorenoAtaxia Centre, UCL Queen Square Institute of Neurology, University College London, London, UK.
Mathieu AnheimService de Neurologie, Hôpitaux Universitaires de Strasbourg, Hôpital de Hautepierre, Strasbourg, France.
Thomas WirthService de Neurologie, Hôpitaux Universitaires de Strasbourg, Hôpital de Hautepierre, Strasbourg, France.
Jennifer FaberDepartment of Neurology, University Hospital Bonn, Bonn, Germany.ORCID 0000-0003-3265-0262
Dagmar TimmannDepartment of Neurology and Center for Translational Neuro- and Behavioral Sciences (C-TNBS), Essen University Hospital, University of Duisburg-Essen, Essen, Germany.
Christel DepienneInstitute of Human Genetics, Essen University Hospital, University of Duisburg-Essen, Essen, Germany.
Dan RujescuDepartment of Psychiatry and Psychotherapy, Comprehensive Center for Clinical Neurosciences and Mental Health, Medical University of Vienna, Vienna, Austria.
José GazullaDepartment of Neurology, Hospital Universitario Miguel Servet, Zaragoza, Spain.
Mary M ReillyDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, University College London, London, UK.ORCID 0000-0003-0686-905X
Paola GiuntiAtaxia Centre, UCL Queen Square Institute of Neurology, University College London, London, UK.
Bernard BraisDepartment of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, QC, Canada.
Henry HouldenDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, University College London, London, UK.ORCID 0000-0002-2866-7777
Ludger SchölsGerman Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.
Michael StruppDepartment of Neurology and German Center for Vertigo and Balance Disorders, LMU University Hospital, LMU Munich, Munich, Germany.
Andrea CorteseDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, University College London, London, UK.ORCID 0000-0002-2208-5311
Matthis SynofzikResearch Division Translational Genomics of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany matthis.synofzik@uni-tuebingen.de david.pellerin.21@ucl.ac.uk.ORCID 0000-0002-2280-7273
German Center for Neurodegenerative Diseases · DEMontreal Neurological Institute and Hospital · CAEssen University Hospital · DEHôpitaux Universitaires de Strasbourg · FRNational Hospital for Neurology and Neurosurgery · GBUniversity College London Hospitals NHS Foundation Trust · GBUniversity of Pavia · ITGerman Center for Lung Research · DEHospital Universitario Miguel Servet · ESMedical University of Vienna · ATUniversity Hospital Bonn · DEUniversity of Basel · CH
Funding
Medical Research Council MR/N028767/1Medical Research Council MR/S01165X/1Medical Research Council MR/T001712/1Wellcome Trust
Abstract
backgroundIntronic GAA repeat expansions in the fibroblast growth factor 14 gene (
methodsWe recruited 45 patients negative for biallelic
resultsFrequency of
conclusionsGAA-
Indexed as
Bilateral VestibulopathyCerebellar AtaxiaPeripheral Nervous System DiseasesPolyneuropathiesVestibular DiseasesAtaxiaFibroblast Growth FactorsHumansSyndromefibroblast growth factor 14Fibroblast Growth FactorsCEREBELLAR ATAXIAMOVEMENT DISORDERSNEUROGENETICSNEUROPATHYVERTIGO
Identifiers
What OpenQuestion holds
Textmetadata
LicenceCC BY
Read underepoch 390
Registered trials
None linked
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.