Evidence map›Paper›PMID 35221871›Full record

ArticleMolecular syndromology2022

Bülent Kara, Oya Uyguner, Hülya Maraş Genç, Eylül Ece İşlek, Murat Kasap, Güven Toksoy, Gürler Akpınar, Emek Uyur Yalçın, Yonca Anık, Duran Üstek

Open access · greenAbstract read
In one paragraph

Article in Molecular syndromology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
0.1field-weighted citation impact, top 50% 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

6 citing papers in PubMed, 5 citations in OpenAlex.

  1. Article
  2. Article
  3. Observational
  4. Article
  5. Novel CDKL5 targets identified in human iPSC-derived neurons.Cellular and molecular life sciences : CMLS · 2024
    Article
  6. Review
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

10 authors at 2 institutions in 1 country.

Bülent KaraDivision of Child Neurology, Department of Pediatrics, Kocaeli University Medical Faculty, Izmit, Turkey.
Oya UygunerDepartment of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
Hülya Maraş GençDivision of Child Neurology, Department of Pediatrics, Kocaeli University Medical Faculty, Izmit, Turkey.
Eylül Ece İşlekDekart Proteomics Laboratory, Department of Medical Biology, Kocaeli University Medical Faculty, Izmit, Turkey.
Murat KasapDekart Proteomics Laboratory, Department of Medical Biology, Kocaeli University Medical Faculty, Izmit, Turkey.
Güven ToksoyDepartment of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
Gürler AkpınarDekart Proteomics Laboratory, Department of Medical Biology, Kocaeli University Medical Faculty, Izmit, Turkey.
Emek Uyur YalçınDivision of Child Neurology, Department of Pediatrics, Kocaeli University Medical Faculty, Izmit, Turkey.
Yonca AnıkDepartment of Radiology, Kocaeli University Medical Faculty, Izmit, Turkey.
Duran ÜstekDepartment of Molecular Genetics, Institute of Experimental Medicine, Istanbul University, Istanbul, Turkey.
Kocaeli Üniversitesi · TRIstanbul University · TR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Three siblings born to Turkish parents from the same village had normal brain development until acute neurological deterioration between 12 months and 8 years of age. Consequent loss of all acquired motor, social, and language functions following infections was associated with a pontine cyst, calcification, and cerebellar atrophy. Exome sequencing revealed a homozygous c.1297G>A (p.Gly433Ser) alteration in

Indexed as

BEND4Cerebellar atrophyInfection-induced acute encephalopathyPontine calcificationPontine cyst

Identifiers

PMID35221871
PMCPMC8832206
OpenAlexW3203605753

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.