Evidence map›Paper›PMID 36768938›Full record

ArticleInternational journal of molecular sciences2023

Spinocerebellar Ataxia in a Hungarian Female Patient with a Novel Variant of Unknown Significance in the

Fanni Annamária Boros, László Szpisjak, Renáta Bozó, Evelyn Kelemen, Dénes Zádori, András Salamon, Judit Danis, Tibor Kalmár, Zoltán Maróti, Mária Judit Molnár and 3 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in International journal of molecular sciences, 2023. 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
–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

2 citing papers in PubMed.

  1. Article
  2. Tremor in Spinocerebellar Ataxia: A Scoping Review.Tremor and other hyperkinetic movements (New York, N.Y.) · 2024
    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

13 authors.

Fanni Annamária BorosDepartment of Neurology, University of Szeged, 6720 Szeged, Hungary.
László SzpisjakDepartment of Neurology, University of Szeged, 6720 Szeged, Hungary.
Renáta BozóDepartment of Dermatology and Allergology, University of Szeged, 6720 Szeged, Hungary.ORCID 0000-0003-4242-2474
Evelyn KelemenDepartment of Dermatology and Allergology, University of Szeged, 6720 Szeged, Hungary.
Dénes ZádoriDepartment of Neurology, University of Szeged, 6720 Szeged, Hungary.ORCID 0000-0003-0749-7980
András SalamonDepartment of Neurology, University of Szeged, 6720 Szeged, Hungary.ORCID 0000-0002-9946-8230
Judit DanisELKH-SZTE Dermatological Research Group, Eötvös Loránd Research Network, 6720 Szeged, Hungary.ORCID 0000-0002-0270-5309
Tibor KalmárGenetic Diagnostic Laboratory, Department of Pediatrics and Pediatric Healthy Care Center, University of Szeged, 6720 Szeged, Hungary.ORCID 0000-0002-0419-2009
Zoltán MarótiGenetic Diagnostic Laboratory, Department of Pediatrics and Pediatric Healthy Care Center, University of Szeged, 6720 Szeged, Hungary.ORCID 0000-0002-0515-117X
Mária Judit MolnárInstitute of Genomic Medicine and Rare Disorders, Semmelweis University, 1082 Budapest, Hungary.ORCID 0000-0001-9350-1864
Péter KlivényiDepartment of Neurology, University of Szeged, 6720 Szeged, Hungary.ORCID 0000-0002-5389-3266
Márta SzéllDepartment of Medical Genetics, University of Szeged, 6720 Szeged, Hungary.
Éva ÁdámDepartment of Medical Genetics, University of Szeged, 6720 Szeged, Hungary.

Funding

Hungarian Academy of Sciences BO/00199/20-5Hungarian Brain Research Program 2017-1-1.1.2.1-NKP-2017-0002Hungarian Ministry for Innovation and Technology ÚNKP-22-5-SZTE-550
6 · The paper itself

Abstract

Spinocerebellar ataxia (SCA) 40 is an extremely rare subtype of the phenotypically and genetically diverse autosomal dominant ataxias caused by mutations of the

Indexed as

Spinocerebellar AtaxiasSpinocerebellar DegenerationsAtaxiaFemaleHEK293 CellsHumansHungaryIntracellular Signaling Peptides and ProteinsMicrofilament ProteinsMutationCCDC88C protein, humanIntracellular Signaling Peptides and ProteinsMicrofilament ProteinsapoptosisataxiaCCDC88C mutationJNK pathwaySCA40

Identifiers

PMID36768938
PMCPMC9916980

What OpenQuestion holds

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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.