Article in Cells, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed, 1 pooled it
0.9field-weighted citation impact, top 32% 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
4 citing papers in PubMed, 1 synthesis or guideline pooled it, 9 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
11 authors at 5 institutions in 2 countries.
Mariana SantosUnIGENe, IBMC-Institute for Molecular and Cell Biology, i3S-Instituto de Investigação e Inovação em Saúde, Universidade do Porto, 4200-135 Porto, Portugal.ORCID 0000-0002-2343-2215
Joana DamásioUnIGENe, IBMC-Institute for Molecular and Cell Biology, i3S-Instituto de Investigação e Inovação em Saúde, Universidade do Porto, 4200-135 Porto, Portugal.ORCID 0000-0002-6539-6398
Susana CarmonaDepartment of Neurodegenerative Science, Van Andel Institute, Grand Rapids, MI 49503, USA.
João Luís NetoUnIGENe, IBMC-Institute for Molecular and Cell Biology, i3S-Instituto de Investigação e Inovação em Saúde, Universidade do Porto, 4200-135 Porto, Portugal.ORCID 0000-0003-0863-158X
Nadia DehghaniDepartment of Neurodegenerative Science, Van Andel Institute, Grand Rapids, MI 49503, USA.
Leonor Correia GuedesDepartment of Neurosciences and Mental Health, Neurology, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte, 1649-028 Lisbon, Portugal.ORCID 0000-0002-9846-1037
Clara BarbotCGPP-Centre for Predictive and Preventive Genetics, IBMC-Institute for Molecular and Cell Biology, i3S-Instituto de Investigação e Inovação em Saúde, Universidade do Porto, 4200-135 Porto, Portugal.
José BarrosNeurology Department, Centro Hospitalar Universitário do Porto, 4099-001 Porto, Portugal.
José BrásDepartment of Neurodegenerative Science, Van Andel Institute, Grand Rapids, MI 49503, USA.
Jorge SequeirosUnIGENe, IBMC-Institute for Molecular and Cell Biology, i3S-Instituto de Investigação e Inovação em Saúde, Universidade do Porto, 4200-135 Porto, Portugal.
Rita GuerreiroDepartment of Neurodegenerative Science, Van Andel Institute, Grand Rapids, MI 49503, USA.ORCID 0000-0001-5879-3486
Van Andel Institute · USi3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto · PTUniversidade do Porto · PTCentro Hospitalar do Porto · PTUniversity of Lisbon · PT
Funding
FCT-Fundação para a Ciência e a Tecnologia, I.P DL 57/2016 - Norma Transitória.FCT-Fundação para a Ciência e a Tecnologia, I.P FCT-ANR/BEX-GMG/0008/2013FCT-Fundação para a Ciência e a Tecnologia, I.P SFRH/BPD/116046/2016FCT-Fundação para a Ciência e a Tecnologia, I.P UIDB/04293/2020GenomePT POCI-01-0145-FEDER-022184Norte Portugal Regional Operational Programme (NORTE 2020) Norte-01-0145-FEDER-000008
6 · The paper itself
Abstract
Hereditary cerebellar ataxia (HCA) comprises a clinical and genetic heterogeneous group of neurodegenerative disorders characterized by incoordination of movement, speech, and unsteady gait. In this study, we performed whole-exome sequencing (WES) in 19 families with HCA and presumed autosomal recessive (AR) inheritance, to identify the causal genes. A phenotypic classification was performed, considering the main clinical syndromes: spastic ataxia, ataxia and neuropathy, ataxia and oculomotor apraxia (AOA), ataxia and dystonia, and ataxia with cognitive impairment. The most frequent causal genes were associated with spastic 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.
Molecular Characterization of Portuguese Patients with Hereditary Cerebellar Ataxia. · full record | OpenQuestion