Evidence map›Paper›PMID 37460232›Full record

ArticleNeurology2023

Child Neurology: Progressive Cerebellar Atrophy and Retinal Dystrophy: Clues to an Ultrarare

Noor Lail, Ashutosh K Pandey, Sundararajan Venkatesh, Roberto D Noland, Gabriel Swanson, Debkumar Pain, Helen M Branson, Carolyn K Suzuki, Grace Yoon

Open access · greenAbstract readCase Reports
In one paragraph

Article in Neurology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.2field-weighted citation impact, top 42% 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

1 citing paper in PubMed, 1 citations in OpenAlex.

  1. Article
4 · The record

Corrections and comments

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 at 1 institution in 2 countries.

Noor LailFrom the Division of Clinical and Metabolic Genetics (N.L., G.Y.), Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Ontario, Canada; Department of Pharmacology, Physiology and Neuroscience (A.K.P., D.P.), and Department of Microbiology, Biochemistry and Molecular Genetics (S.V., R.D.N., G.S., C.K.S.), Rutgers-New Jersey Medical School, Newark; and Division of Neuroradiology (H.M.B.), Department of Diagnostic Imaging, and Division of Neurology (G.Y.), Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Ontario, Canada. S. Venkatesh is now with Department of Physiology and Pharmacology, School of Medicine, West Virginia University, Morgantown.
Ashutosh K PandeyFrom the Division of Clinical and Metabolic Genetics (N.L., G.Y.), Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Ontario, Canada; Department of Pharmacology, Physiology and Neuroscience (A.K.P., D.P.), and Department of Microbiology, Biochemistry and Molecular Genetics (S.V., R.D.N., G.S., C.K.S.), Rutgers-New Jersey Medical School, Newark; and Division of Neuroradiology (H.M.B.), Department of Diagnostic Imaging, and Division of Neurology (G.Y.), Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Ontario, Canada. S. Venkatesh is now with Department of Physiology and Pharmacology, School of Medicine, West Virginia University, Morgantown.
Sundararajan VenkateshFrom the Division of Clinical and Metabolic Genetics (N.L., G.Y.), Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Ontario, Canada; Department of Pharmacology, Physiology and Neuroscience (A.K.P., D.P.), and Department of Microbiology, Biochemistry and Molecular Genetics (S.V., R.D.N., G.S., C.K.S.), Rutgers-New Jersey Medical School, Newark; and Division of Neuroradiology (H.M.B.), Department of Diagnostic Imaging, and Division of Neurology (G.Y.), Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Ontario, Canada. S. Venkatesh is now with Department of Physiology and Pharmacology, School of Medicine, West Virginia University, Morgantown.
Roberto D NolandFrom the Division of Clinical and Metabolic Genetics (N.L., G.Y.), Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Ontario, Canada; Department of Pharmacology, Physiology and Neuroscience (A.K.P., D.P.), and Department of Microbiology, Biochemistry and Molecular Genetics (S.V., R.D.N., G.S., C.K.S.), Rutgers-New Jersey Medical School, Newark; and Division of Neuroradiology (H.M.B.), Department of Diagnostic Imaging, and Division of Neurology (G.Y.), Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Ontario, Canada. S. Venkatesh is now with Department of Physiology and Pharmacology, School of Medicine, West Virginia University, Morgantown.
Gabriel SwansonFrom the Division of Clinical and Metabolic Genetics (N.L., G.Y.), Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Ontario, Canada; Department of Pharmacology, Physiology and Neuroscience (A.K.P., D.P.), and Department of Microbiology, Biochemistry and Molecular Genetics (S.V., R.D.N., G.S., C.K.S.), Rutgers-New Jersey Medical School, Newark; and Division of Neuroradiology (H.M.B.), Department of Diagnostic Imaging, and Division of Neurology (G.Y.), Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Ontario, Canada. S. Venkatesh is now with Department of Physiology and Pharmacology, School of Medicine, West Virginia University, Morgantown.
Debkumar PainFrom the Division of Clinical and Metabolic Genetics (N.L., G.Y.), Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Ontario, Canada; Department of Pharmacology, Physiology and Neuroscience (A.K.P., D.P.), and Department of Microbiology, Biochemistry and Molecular Genetics (S.V., R.D.N., G.S., C.K.S.), Rutgers-New Jersey Medical School, Newark; and Division of Neuroradiology (H.M.B.), Department of Diagnostic Imaging, and Division of Neurology (G.Y.), Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Ontario, Canada. S. Venkatesh is now with Department of Physiology and Pharmacology, School of Medicine, West Virginia University, Morgantown.
Helen M BransonFrom the Division of Clinical and Metabolic Genetics (N.L., G.Y.), Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Ontario, Canada; Department of Pharmacology, Physiology and Neuroscience (A.K.P., D.P.), and Department of Microbiology, Biochemistry and Molecular Genetics (S.V., R.D.N., G.S., C.K.S.), Rutgers-New Jersey Medical School, Newark; and Division of Neuroradiology (H.M.B.), Department of Diagnostic Imaging, and Division of Neurology (G.Y.), Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Ontario, Canada. S. Venkatesh is now with Department of Physiology and Pharmacology, School of Medicine, West Virginia University, Morgantown.
Carolyn K SuzukiFrom the Division of Clinical and Metabolic Genetics (N.L., G.Y.), Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Ontario, Canada; Department of Pharmacology, Physiology and Neuroscience (A.K.P., D.P.), and Department of Microbiology, Biochemistry and Molecular Genetics (S.V., R.D.N., G.S., C.K.S.), Rutgers-New Jersey Medical School, Newark; and Division of Neuroradiology (H.M.B.), Department of Diagnostic Imaging, and Division of Neurology (G.Y.), Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Ontario, Canada. S. Venkatesh is now with Department of Physiology and Pharmacology, School of Medicine, West Virginia University, Morgantown.
Grace YoonFrom the Division of Clinical and Metabolic Genetics (N.L., G.Y.), Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Ontario, Canada; Department of Pharmacology, Physiology and Neuroscience (A.K.P., D.P.), and Department of Microbiology, Biochemistry and Molecular Genetics (S.V., R.D.N., G.S., C.K.S.), Rutgers-New Jersey Medical School, Newark; and Division of Neuroradiology (H.M.B.), Department of Diagnostic Imaging, and Division of Neurology (G.Y.), Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Ontario, Canada. S. Venkatesh is now with Department of Physiology and Pharmacology, School of Medicine, West Virginia University, Morgantown. grace.yoon@utoronto.ca.ORCID 0000-0002-3450-3293
Rutgers, The State University of New Jersey · US

Funding

Mitochondria-cytoplasm interactions for cytosolic Fe-S cluster assemblyR01GM107542 · NIGMS · RUTGERS BIOMEDICAL AND HEALTH SCIENCES · PI DANCIS, ANDREW B., PAIN, DEBKUMAR · 2014 to 2023
$4.5M
Mitochondrial metabolism and the Lon-PDH axisR01GM136905 · NIGMS · RUTGERS BIOMEDICAL AND HEALTH SCIENCES · PI SUZUKI, CAROLYN K · 2020 to 2023
$1.6M
NIGMS NIH HHS R01 GM107542NIGMS NIH HHS R01 GM136905
6 · The paper itself

Abstract

Pathogenic biallelic variants in

Indexed as

MicrocephalyNervous System MalformationsRetinal DystrophiesAconitate HydrataseAtrophyChildChild, PreschoolFemaleHumansACO2 protein, humanAconitate Hydratase

Identifiers

PMID37460232
PMCPMC10585704
OpenAlexW4384521331

What OpenQuestion holds

Textmetadata
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.