In one paragraphArticle in International journal of molecular sciences, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
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 registryThe 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 literatureWho cites it
0 citing papers in PubMed.
No citing paper in PubMed yet.
4 · The recordCorrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
5 · Who and what moneyAuthors and funding
17 authors.
Anna Giulia RuggieriDepartment of Innovative Technologies in Medicine and Dentistry, "G. d'Annunzio" University of Chieti-Pescara, 66100 Chieti, Italy.
Nikolaos M MarinakisLaboratory of Medical Genetics, Medical School, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, 115 27 Athens, Greece.ORCID 0000-0002-7078-3253 Laura AmodeiDepartment of Innovative Technologies in Medicine and Dentistry, "G. d'Annunzio" University of Chieti-Pescara, 66100 Chieti, Italy.ORCID 0009-0007-8234-6230 Francesca PotenzaDepartment of Innovative Technologies in Medicine and Dentistry, "G. d'Annunzio" University of Chieti-Pescara, 66100 Chieti, Italy.
Afrodite KampourakiLaboratory of Medical Genetics, Medical School, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, 115 27 Athens, Greece.
Faidon-Nikolaos TilemisLaboratory of Medical Genetics, Medical School, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, 115 27 Athens, Greece.ORCID 0000-0001-7600-214X Laura PietrangeloDepartment of Medicine and Aging Sciences, "G. d'Annunzio" University of Chieti-Pescara, 66100 Chieti, Italy.ORCID 0000-0003-1197-7813 Marianna VieleDepartment of Innovative Technologies in Medicine and Dentistry, "G. d'Annunzio" University of Chieti-Pescara, 66100 Chieti, Italy.
Federica Di MarcoDepartment of Innovative Technologies in Medicine and Dentistry, "G. d'Annunzio" University of Chieti-Pescara, 66100 Chieti, Italy.ORCID 0000-0002-1281-607X Piero Del BoccioCenter for Advanced Studies and Technology (CAST), "G. d'Annunzio" University of Chieti-Pescara, 66100 Chieti, Italy.ORCID 0000-0003-1653-2194 Federica Di CintioCenter for Advanced Studies and Technology (CAST), "G. d'Annunzio" University of Chieti-Pescara, 66100 Chieti, Italy.ORCID 0000-0001-6011-6548 Nikoletta SelentiLaboratory of Medical Genetics, Medical School, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, 115 27 Athens, Greece.
Manthoula ValariDepartment of Dermatology, Medical School, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, 115 27 Athens, Greece.
Luca FedericiDepartment of Innovative Technologies in Medicine and Dentistry, "G. d'Annunzio" University of Chieti-Pescara, 66100 Chieti, Italy.
Adriana Erica MieleDepartment of Biochemical Sciences, Sapienza University of Rome, 00185 Rome, Italy.ORCID 0000-0002-4637-2606 Michele SalleseDepartment of Innovative Technologies in Medicine and Dentistry, "G. d'Annunzio" University of Chieti-Pescara, 66100 Chieti, Italy.ORCID 0000-0002-2555-3571 Periklis MakrythanasisLaboratory of Medical Genetics, Medical School, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, 115 27 Athens, Greece.
Funding
Funded by European Union PNRR-MR1-2022-12375730Ministero dell'università e della ricerca D75F21003210001Telethon Foundation GGP20092
6 · The paper itselfAbstract
Marinesco-Sjögren syndrome (MSS) is a rare autosomal recessive neuromuscular disorder marked by ataxia, muscle weakness, cataracts, and often intellectual and skeletal abnormalities. It is commonly caused by loss-of-function variants in the
Indexed as
Spinocerebellar DegenerationsChild, PreschoolExome SequencingFemaleGuanine Nucleotide Exchange FactorsHumansProtein StabilityGuanine Nucleotide Exchange FactorsSIL1 protein, humanataxiachaperonesmyopathyneurodegenerative diseaseproteomicsvariant of unknown significanceVUS
Identifiers
PMID41373471
PMCPMC12691736
What OpenQuestion holds
Textmetadata
LicenceCC BY
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