Evidence map›Paper›PMID 33466780›Full record

ArticleBiomedicines2021

Musculoskeletal Features without Ataxia Associated with a Novel de novo Mutation in

Paola Imbrici, Andrea Accogli, Rikard Blunck, Concetta Altamura, Michele Iacomino, Maria Cristina D'adamo, Anna Allegri, Marina Pedemonte, Noemi Brolatti, Stella Vari and 6 more

Open access · goldAbstract read
In one paragraph

Article in Biomedicines, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
0.5field-weighted citation impact, top 39% 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

5 citing papers in PubMed, 8 citations in OpenAlex.

  1. Review
  2. Review
  3. Case report: Episodic ataxia without ataxia?Frontiers in neurology · 2023
    Article
  4. Article
  5. 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

16 authors at 5 institutions in 3 countries.

Paola ImbriciDepartment of Pharmacy-Drug Sciences, University of Bari Aldo Moro, 70121 Bari, Italy.ORCID 0000-0001-9140-5350
Andrea AccogliMedical Genetics Unit, IRCCS Institute "G. Gaslini", 80131 Genoa, Italy.
Rikard BlunckDepartment of Physics, Université de Montréal, Montréal, QC H3C 3J7, Canada.ORCID 0000-0003-4484-2907
Concetta AltamuraDepartment of Biomedical Sciences and Human Oncology, School of Medicine, University of Bari Aldo Moro, 70121 Bari, Italy.ORCID 0000-0001-7306-9621
Michele IacominoMedical Genetics Unit, IRCCS Institute "G. Gaslini", 80131 Genoa, Italy.
Maria Cristina D'adamoDepartment of Physiology and Biochemistry, Faculty of Medicine and Surgery, University of Malta, MDS-2080 Msida, Malta.
Anna AllegriPaediatric Endocrinology Unit, IRCCS Institute "G. Gaslini", 80131 Genoa, Italy.
Marina PedemontePaediatric Neurology and Neuromuscular Disorders Unit, IRCCS Institute "G. Gaslini", 80131 Genoa, Italy.
Noemi BrolattiPaediatric Neurology and Neuromuscular Disorders Unit, IRCCS Institute "G. Gaslini", 80131 Genoa, Italy.
Stella VariPaediatric Neurology and Neuromuscular Disorders Unit, IRCCS Institute "G. Gaslini", 80131 Genoa, Italy.
Matteo CataldiNeuropsychiatric Unit, IRCCS Institute "G. Gaslini", 80131 Genoa, Italy.
Valeria CapraNeurosurgery Unit, IRCCS Institute "G. Gaslini", 80131 Genoa, Italy.
Stefano GustincichDepartment of Neuroscience and Brain Technologies, Istituto Italiano di Tecnologia, 80131 Genoa, Italy.
Federico ZaraMedical Genetics Unit, IRCCS Institute "G. Gaslini", 80131 Genoa, Italy.
Jean-Francois DesaphyDepartment of Biomedical Sciences and Human Oncology, School of Medicine, University of Bari Aldo Moro, 70121 Bari, Italy.ORCID 0000-0001-8816-9369
Chiara FiorilloPaediatric Neurology and Neuromuscular Disorders Unit, IRCCS Institute "G. Gaslini", 80131 Genoa, Italy.
Istituto Giannina Gaslini · ITUniversity of Bari Aldo Moro · ITItalian Institute of Technology · ITUniversité de Montréal · CAUniversity of Malta · MT

Funding

AFM (grant 22431) to C.F.Ataxia UK grant 2018 to P.I.Canadian Institutes for Health Research (CIHR) Grant PJT-169160 to R.B.Malta Council for Science and Technology Grant BooKind E20LG42 to M.C.D.A.Natural Sciences and Engineering Research Council (NSERC) Grant RGPIN-2017-06871 to R.B.Telethon (grant GUP19002) to C.F.University of Bari (Fondi di Ateneo 2017-2018) to P.I. and J.-F.D
6 · The paper itself

Abstract

The

Indexed as

ataxiacreatine kinaseKCNA1molecular modelingmuscle hypertrophymyokymianeuromyotoniapatch clamp

Identifiers

PMID33466780
PMCPMC7829709
OpenAlexW3119216015

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.