Article in Neurology. Genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
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.
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
9 authors.
Ivana R RaslanFrom the Department of Ataxia Unit of the Federal University of São Paulo (UNIFESP) (I.R.R., T.Y.T.S., O.G.B., J.L.P.); Neurology Department (F.K.), Hospital das Clínicas da Universidade de São Paulo and Mendelics; Department of Neurology and Neurosurgery (M.M.R., M.M.A., R.S.P.), Universidade Federal de São Paulo (UNIFESP); and Department of Neurology (M.C.F.), Universidade de Campinas (UNICAMP), Brazil.ORCID https://orcid.org/0000-0001-8575-7747
Thiago Yoshinaga Tonholo SilvaFrom the Department of Ataxia Unit of the Federal University of São Paulo (UNIFESP) (I.R.R., T.Y.T.S., O.G.B., J.L.P.); Neurology Department (F.K.), Hospital das Clínicas da Universidade de São Paulo and Mendelics; Department of Neurology and Neurosurgery (M.M.R., M.M.A., R.S.P.), Universidade Federal de São Paulo (UNIFESP); and Department of Neurology (M.C.F.), Universidade de Campinas (UNICAMP), Brazil.ORCID https://orcid.org/0000-0002-7185-8309
Fernando KokFrom the Department of Ataxia Unit of the Federal University of São Paulo (UNIFESP) (I.R.R., T.Y.T.S., O.G.B., J.L.P.); Neurology Department (F.K.), Hospital das Clínicas da Universidade de São Paulo and Mendelics; Department of Neurology and Neurosurgery (M.M.R., M.M.A., R.S.P.), Universidade Federal de São Paulo (UNIFESP); and Department of Neurology (M.C.F.), Universidade de Campinas (UNICAMP), Brazil.ORCID https://orcid.org/0000-0002-7577-9122
Marcelo M RodriguesFrom the Department of Ataxia Unit of the Federal University of São Paulo (UNIFESP) (I.R.R., T.Y.T.S., O.G.B., J.L.P.); Neurology Department (F.K.), Hospital das Clínicas da Universidade de São Paulo and Mendelics; Department of Neurology and Neurosurgery (M.M.R., M.M.A., R.S.P.), Universidade Federal de São Paulo (UNIFESP); and Department of Neurology (M.C.F.), Universidade de Campinas (UNICAMP), Brazil.
Marcelo M AragãoFrom the Department of Ataxia Unit of the Federal University of São Paulo (UNIFESP) (I.R.R., T.Y.T.S., O.G.B., J.L.P.); Neurology Department (F.K.), Hospital das Clínicas da Universidade de São Paulo and Mendelics; Department of Neurology and Neurosurgery (M.M.R., M.M.A., R.S.P.), Universidade Federal de São Paulo (UNIFESP); and Department of Neurology (M.C.F.), Universidade de Campinas (UNICAMP), Brazil.ORCID https://orcid.org/0000-0001-8877-6062
Ricardo S PinhoFrom the Department of Ataxia Unit of the Federal University of São Paulo (UNIFESP) (I.R.R., T.Y.T.S., O.G.B., J.L.P.); Neurology Department (F.K.), Hospital das Clínicas da Universidade de São Paulo and Mendelics; Department of Neurology and Neurosurgery (M.M.R., M.M.A., R.S.P.), Universidade Federal de São Paulo (UNIFESP); and Department of Neurology (M.C.F.), Universidade de Campinas (UNICAMP), Brazil.ORCID https://orcid.org/0000-0001-6626-6336
Marcondes C FrançaFrom the Department of Ataxia Unit of the Federal University of São Paulo (UNIFESP) (I.R.R., T.Y.T.S., O.G.B., J.L.P.); Neurology Department (F.K.), Hospital das Clínicas da Universidade de São Paulo and Mendelics; Department of Neurology and Neurosurgery (M.M.R., M.M.A., R.S.P.), Universidade Federal de São Paulo (UNIFESP); and Department of Neurology (M.C.F.), Universidade de Campinas (UNICAMP), Brazil.
Orlando G BarsottiniFrom the Department of Ataxia Unit of the Federal University of São Paulo (UNIFESP) (I.R.R., T.Y.T.S., O.G.B., J.L.P.); Neurology Department (F.K.), Hospital das Clínicas da Universidade de São Paulo and Mendelics; Department of Neurology and Neurosurgery (M.M.R., M.M.A., R.S.P.), Universidade Federal de São Paulo (UNIFESP); and Department of Neurology (M.C.F.), Universidade de Campinas (UNICAMP), Brazil.ORCID https://orcid.org/0000-0002-0107-0831
José Luiz PedrosoFrom the Department of Ataxia Unit of the Federal University of São Paulo (UNIFESP) (I.R.R., T.Y.T.S., O.G.B., J.L.P.); Neurology Department (F.K.), Hospital das Clínicas da Universidade de São Paulo and Mendelics; Department of Neurology and Neurosurgery (M.M.R., M.M.A., R.S.P.), Universidade Federal de São Paulo (UNIFESP); and Department of Neurology (M.C.F.), Universidade de Campinas (UNICAMP), Brazil.ORCID https://orcid.org/0000-0002-1672-8894
Funding
No grant is acknowledged in the PubMed record.
6 · The paper itself
Abstract
Background and Objectives: Congenital ataxias are rare hereditary disorders characterized by hypotonia and developmental motor delay in the first few months of life, followed by cerebellar ataxia in early childhood. The course of the disease is predominantly nonprogressive, and many patients are incorrectly diagnosed with cerebral palsy. Despite significant advancements in next-generation sequencing in the past few decades, a specific genetic diagnosis is seldom obtained in cases of congenital ataxia. The aim of the study was to analyze the clinical, radiologic, and genetic features of a cohort of Brazilian patients with congenital ataxia. Methods: Thirty patients with a clinical diagnosis of congenital ataxia were enrolled in this study. Clinical and demographic features and neuroimaging studies were analyzed. Genetic testing (whole-exome sequencing) was also performed. Results: A heterogeneous pattern of genetic variants was detected. Eighteen genes were involved: Discussion: This study re-emphasizes the genetic heterogeneity of congenital ataxias and the absence of a clear phenotype-genotype relationship. A specific genetic diagnosis was established in 46.7% of patients. Autosomal dominant, associated with sporadic cases, was recognized as an important genetic inheritance. The results of this analysis highlight the value of whole-exome sequencing as an efficient screening tool in patients with congenital 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.
Clinical and Genetic Characterization of a Cohort of Brazilian Patients With Congenital Ataxia. · full record | OpenQuestion