Article in Neurology. Genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed, 1 pooled it
0.7field-weighted citation impact, top 36% of its field
1 · What the graph read from it
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.
2 · The registry
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.
3 · Its place in the literature
Who cites it
5 citing papers in PubMed, 1 synthesis or guideline pooled it, 10 citations in OpenAlex.
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
5 · Who and what money
Authors and funding
10 authors at 1 institution in 2 countries.
Erika IgnatiusDepartment of Child Neurology (E.I., P.I., T.L.), Children's Hospital, University of Helsinki and Helsinki University Hospital; Research Programs Unit, Stem Cells and Metabolism, Faculty of Medicine (E.I., P.I., M.P., S.O., V.B., E.P., A.S.), Institute for Molecular Medicine Finland (FIMM) (P.L.), Neuroscience Center (A.S.), HiLife, University of Helsinki, Finland; and Genetics Research Centre (C.J.C.), Molecular and Clinical Sciences Research Institute, St. George's, University of London, United Kingdom.ORCID 0000-0002-3574-6510
Pirjo IsohanniDepartment of Child Neurology (E.I., P.I., T.L.), Children's Hospital, University of Helsinki and Helsinki University Hospital; Research Programs Unit, Stem Cells and Metabolism, Faculty of Medicine (E.I., P.I., M.P., S.O., V.B., E.P., A.S.), Institute for Molecular Medicine Finland (FIMM) (P.L.), Neuroscience Center (A.S.), HiLife, University of Helsinki, Finland; and Genetics Research Centre (C.J.C.), Molecular and Clinical Sciences Research Institute, St. George's, University of London, United Kingdom.ORCID 0000-0002-0156-1614
Max PohjanpeltoDepartment of Child Neurology (E.I., P.I., T.L.), Children's Hospital, University of Helsinki and Helsinki University Hospital; Research Programs Unit, Stem Cells and Metabolism, Faculty of Medicine (E.I., P.I., M.P., S.O., V.B., E.P., A.S.), Institute for Molecular Medicine Finland (FIMM) (P.L.), Neuroscience Center (A.S.), HiLife, University of Helsinki, Finland; and Genetics Research Centre (C.J.C.), Molecular and Clinical Sciences Research Institute, St. George's, University of London, United Kingdom.ORCID 0000-0002-9262-2282
Päivi LahermoDepartment of Child Neurology (E.I., P.I., T.L.), Children's Hospital, University of Helsinki and Helsinki University Hospital; Research Programs Unit, Stem Cells and Metabolism, Faculty of Medicine (E.I., P.I., M.P., S.O., V.B., E.P., A.S.), Institute for Molecular Medicine Finland (FIMM) (P.L.), Neuroscience Center (A.S.), HiLife, University of Helsinki, Finland; and Genetics Research Centre (C.J.C.), Molecular and Clinical Sciences Research Institute, St. George's, University of London, United Kingdom.
Simo OjanenDepartment of Child Neurology (E.I., P.I., T.L.), Children's Hospital, University of Helsinki and Helsinki University Hospital; Research Programs Unit, Stem Cells and Metabolism, Faculty of Medicine (E.I., P.I., M.P., S.O., V.B., E.P., A.S.), Institute for Molecular Medicine Finland (FIMM) (P.L.), Neuroscience Center (A.S.), HiLife, University of Helsinki, Finland; and Genetics Research Centre (C.J.C.), Molecular and Clinical Sciences Research Institute, St. George's, University of London, United Kingdom.ORCID 0000-0003-3339-5742
Virginia BrilhanteDepartment of Child Neurology (E.I., P.I., T.L.), Children's Hospital, University of Helsinki and Helsinki University Hospital; Research Programs Unit, Stem Cells and Metabolism, Faculty of Medicine (E.I., P.I., M.P., S.O., V.B., E.P., A.S.), Institute for Molecular Medicine Finland (FIMM) (P.L.), Neuroscience Center (A.S.), HiLife, University of Helsinki, Finland; and Genetics Research Centre (C.J.C.), Molecular and Clinical Sciences Research Institute, St. George's, University of London, United Kingdom.ORCID 0000-0001-8358-2891
Eino PalinDepartment of Child Neurology (E.I., P.I., T.L.), Children's Hospital, University of Helsinki and Helsinki University Hospital; Research Programs Unit, Stem Cells and Metabolism, Faculty of Medicine (E.I., P.I., M.P., S.O., V.B., E.P., A.S.), Institute for Molecular Medicine Finland (FIMM) (P.L.), Neuroscience Center (A.S.), HiLife, University of Helsinki, Finland; and Genetics Research Centre (C.J.C.), Molecular and Clinical Sciences Research Institute, St. George's, University of London, United Kingdom.ORCID 0000-0002-5769-6526
Anu SuomalainenDepartment of Child Neurology (E.I., P.I., T.L.), Children's Hospital, University of Helsinki and Helsinki University Hospital; Research Programs Unit, Stem Cells and Metabolism, Faculty of Medicine (E.I., P.I., M.P., S.O., V.B., E.P., A.S.), Institute for Molecular Medicine Finland (FIMM) (P.L.), Neuroscience Center (A.S.), HiLife, University of Helsinki, Finland; and Genetics Research Centre (C.J.C.), Molecular and Clinical Sciences Research Institute, St. George's, University of London, United Kingdom.ORCID 0000-0003-4833-5195
Tuula LönnqvistDepartment of Child Neurology (E.I., P.I., T.L.), Children's Hospital, University of Helsinki and Helsinki University Hospital; Research Programs Unit, Stem Cells and Metabolism, Faculty of Medicine (E.I., P.I., M.P., S.O., V.B., E.P., A.S.), Institute for Molecular Medicine Finland (FIMM) (P.L.), Neuroscience Center (A.S.), HiLife, University of Helsinki, Finland; and Genetics Research Centre (C.J.C.), Molecular and Clinical Sciences Research Institute, St. George's, University of London, United Kingdom.ORCID 0000-0001-9737-7020
Christopher J CarrollDepartment of Child Neurology (E.I., P.I., T.L.), Children's Hospital, University of Helsinki and Helsinki University Hospital; Research Programs Unit, Stem Cells and Metabolism, Faculty of Medicine (E.I., P.I., M.P., S.O., V.B., E.P., A.S.), Institute for Molecular Medicine Finland (FIMM) (P.L.), Neuroscience Center (A.S.), HiLife, University of Helsinki, Finland; and Genetics Research Centre (C.J.C.), Molecular and Clinical Sciences Research Institute, St. George's, University of London, United Kingdom.ORCID 0000-0002-2814-6955
University of Helsinki · FI
Funding
No grant is acknowledged in the PubMed record.
6 · The paper itself
Abstract
objectiveTo characterize the genetic background of molecularly undefined childhood-onset ataxias in Finland.
methodsThis study examined a cohort of patients from 50 families with onset of an ataxia syndrome before the age of 5 years collected from a single tertiary center, drawing on the advantages offered by next generation sequencing. A genome-wide genotyping array (Illumina Infinium Global Screening Array MD-24 v.2.0) was used to search for copy number variation undetectable by exome sequencing.
resultsExome sequencing led to a molecular diagnosis for 20 probands (40%). In the 23 patients examined with a genome-wide genotyping array, 2 additional diagnoses were made. A considerable proportion of probands with a molecular diagnosis had de novo pathogenic variants (45%). In addition, the study identified a de novo variant in a gene not previously linked to ataxia: MED23. Patients in the cohort had medically actionable findings.
conclusionsThere is a high heterogeneity of causative mutations in this cohort despite the defined age at onset, phenotypical overlap between patients, the founder effect, and genetic isolation in the Finnish population. The findings reflect the heterogeneous genetic background of ataxia seen worldwide and the substantial contribution of de novo variants underlying childhood ataxia.
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.
Genetic background of ataxia in children younger than 5 years in Finland. · full record | OpenQuestion