Article in Cells, 2022. 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
0.4field-weighted citation impact, top 46% 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
2 citing papers in PubMed, 4 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
12 authors at 5 institutions in 3 countries.
Zeeshan GauharUniversity Institute of Biochemistry and Biotechnology (UIBB), Pir Mehr Ali Shah Arid Agriculture University Rawalpindi (PMAS-AAUR), Rawalpindi 46300, Pakistan.
Leon TejwaniInterdepartmental Neuroscience Program, Yale School of Medicine, New Haven, CT 06510, USA.ORCID 0000-0002-3160-6270
Uzma AbdullahUniversity Institute of Biochemistry and Biotechnology (UIBB), Pir Mehr Ali Shah Arid Agriculture University Rawalpindi (PMAS-AAUR), Rawalpindi 46300, Pakistan.ORCID 0000-0002-7168-8266
Sadia SaeedUniversity Institute of Biochemistry and Biotechnology (UIBB), Pir Mehr Ali Shah Arid Agriculture University Rawalpindi (PMAS-AAUR), Rawalpindi 46300, Pakistan.ORCID 0000-0002-6587-6543
Shagufta ShafiqueUniversity Institute of Biochemistry and Biotechnology (UIBB), Pir Mehr Ali Shah Arid Agriculture University Rawalpindi (PMAS-AAUR), Rawalpindi 46300, Pakistan.
Mazhar BadshahDepartment of Neurology, Pakistan Institute of Medical Sciences (PIMS), Islamabad 04485, Pakistan.
Jungmin ChoiDepartment of Genetics, Yale School of Medicine, New Haven, CT 06510, USA.
Weilai DongLaboratory of Human Genetics and Genomics, Rockefeller University, New York, NY 10065, USA.ORCID 0000-0002-8376-1758
Carol Nelson-WilliamsDepartment of Genetics, Yale School of Medicine, New Haven, CT 06510, USA.
Richard P LiftonDepartment of Genetics, Yale School of Medicine, New Haven, CT 06510, USA.
Janghoo LimInterdepartmental Neuroscience Program, Yale School of Medicine, New Haven, CT 06510, USA.
Ghazala K RajaUniversity Institute of Biochemistry and Biotechnology (UIBB), Pir Mehr Ali Shah Arid Agriculture University Rawalpindi (PMAS-AAUR), Rawalpindi 46300, Pakistan.ORCID 0000-0002-8362-7137
Pir Mehr Ali Shah Arid Agriculture University · PKYale University · USKorea University · KRPakistan Institute of Medical Sciences · PKRockefeller University · US
Funding
Interdepartmental Neuroscience Program (INP)T32NS041228 · NINDS · YALE UNIVERSITY · PI Charles A Greer, Marina R Picciotto · 2001 to 2026
$12.0M
NEUROBIOLOGY OF CORTICAL SYSTEMST32NS007224 · NINDS · YALE UNIVERSITY · PI CARDIN, JESSICA A · 1985 to 2025
$4.6M
Investigation of the role of ATXN1 in oligodendroglia and neurodegenerative diseasesR01AG076154 · NIA · YALE UNIVERSITY · PI Janghoo Lim · 2022 to 2026
$3.5M
Investigating the Pathogenesis of Cerebellar NeurodegenerationR01NS083706 · NINDS · YALE UNIVERSITY · PI LIM, JANGHOO · 2014 to 2018
Autosomal-recessive cerebellar ataxias (ARCAs) are heterogeneous rare disorders mainly affecting the cerebellum and manifest as movement disorders in children and young adults. To date, ARCA causing mutations have been identified in nearly 100 genes; however, they account for less than 50% of all cases. We studied a multiplex, consanguineous Pakistani family presenting with a slowly progressive gait ataxia, body imbalance, and dysarthria. Cerebellar atrophy was identified by magnetic resonance imaging of brain. Using whole exome sequencing, a novel homozygous missense mutation
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.
A Novel Missense Mutation in · full record | OpenQuestion