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 1 paper, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed, 1 pooled it
–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.
3 · Its place in the literature
Who cites it
1 citing paper in PubMed, 1 synthesis or guideline pooled it.
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
5 authors.
Monica S ArroyoFrom the Division of Neurology (M.S.A.), Joe DiMaggio Children's Hospital, Hollywood, FL; Division of Neurology (M.S.A., C.T.), Cincinnati Children's Hospital Medical Center, OH; Division of Pathology (C.F.), Upstate Medical University, Syracuse, NY; Division of Pathology (C.F.); Division of Human Genetics (E.K.S., E.U.), Cincinnati Children's Hospital Medical Center; and Department of Pediatrics (E.K.S., C.T.), University of Cincinnati College of Medicine, OH.ORCID https://orcid.org/0009-0009-1689-2801
Christine FullerFrom the Division of Neurology (M.S.A.), Joe DiMaggio Children's Hospital, Hollywood, FL; Division of Neurology (M.S.A., C.T.), Cincinnati Children's Hospital Medical Center, OH; Division of Pathology (C.F.), Upstate Medical University, Syracuse, NY; Division of Pathology (C.F.); Division of Human Genetics (E.K.S., E.U.), Cincinnati Children's Hospital Medical Center; and Department of Pediatrics (E.K.S., C.T.), University of Cincinnati College of Medicine, OH.ORCID https://orcid.org/0000-0001-7919-7675
Elizabeth K SchorryFrom the Division of Neurology (M.S.A.), Joe DiMaggio Children's Hospital, Hollywood, FL; Division of Neurology (M.S.A., C.T.), Cincinnati Children's Hospital Medical Center, OH; Division of Pathology (C.F.), Upstate Medical University, Syracuse, NY; Division of Pathology (C.F.); Division of Human Genetics (E.K.S., E.U.), Cincinnati Children's Hospital Medical Center; and Department of Pediatrics (E.K.S., C.T.), University of Cincinnati College of Medicine, OH.
Elizabeth UlmFrom the Division of Neurology (M.S.A.), Joe DiMaggio Children's Hospital, Hollywood, FL; Division of Neurology (M.S.A., C.T.), Cincinnati Children's Hospital Medical Center, OH; Division of Pathology (C.F.), Upstate Medical University, Syracuse, NY; Division of Pathology (C.F.); Division of Human Genetics (E.K.S., E.U.), Cincinnati Children's Hospital Medical Center; and Department of Pediatrics (E.K.S., C.T.), University of Cincinnati College of Medicine, OH.
Cuixia TianFrom the Division of Neurology (M.S.A.), Joe DiMaggio Children's Hospital, Hollywood, FL; Division of Neurology (M.S.A., C.T.), Cincinnati Children's Hospital Medical Center, OH; Division of Pathology (C.F.), Upstate Medical University, Syracuse, NY; Division of Pathology (C.F.); Division of Human Genetics (E.K.S., E.U.), Cincinnati Children's Hospital Medical Center; and Department of Pediatrics (E.K.S., C.T.), University of Cincinnati College of Medicine, OH.ORCID https://orcid.org/0000-0003-2010-8142
Funding
No grant is acknowledged in the PubMed record.
6 · The paper itself
Abstract
Objectives: The Methods: In this article, we report a pediatric case with congenital hypotonia, motor delay, elevated creatine kinase, and abnormal muscle biopsy consistent with CMD who subsequently developed PME. Whole-exome sequencing identified pathogenic compound heterozygous variants in the Result: To our knowledge, this is a novel case of compound heterozygous variants in Discussion: This case adds to the expanding clinical phenotype of
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.
Compound Heterozygous Variants of · full record | OpenQuestion