Evidence map›Paper›PMID 35812164›Full record

ArticleNeurology. Genetics2022

Novel

Guido Primiano, Alessandra Torraco, Daniela Verrigni, Andrea Sabino, Enrico Bertini, Rosalba Carrozzo, Gabriella Silvestri, Serenella Servidei

Open access · goldAbstract read
In one paragraph

Article in Neurology. Genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.

0numbers the graph read from it
0cells of the map it votes in
12citing papers in PubMed
1.2field-weighted citation impact, top 22% 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

12 citing papers in PubMed, 14 citations in OpenAlex.

  1. Article
  2. Identification of aFrontiers in pharmacology · 2026
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  3. Article
  4. Review
  5. Mitochondrial DNA depletion syndrome and its cardiac complication.Frontiers in cardiovascular medicine · 2025
    Review
  6. Review
  7. Review
  8. Review
  9. Review
  10. Review
  11. Article
  12. Progressive external ophthalmoplegia.Handbook of clinical neurology · 2023
    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

8 authors at 1 institution in 1 country.

Guido PrimianoFondazione Policlinico Universitario A. Gemelli IRCCS (G.P., G.S., S.S.); Dipartimento Universitario di Neuroscienze, Università Cattolica Del Sacro Cuore (G.P., A.S., G.S., S.S.); and Unit of Muscular and Neurodegenerative Disorders (A.T., D.V., E.B., R.C.), Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.ORCID https://orcid.org/0000-0001-7616-7008
Alessandra TorracoFondazione Policlinico Universitario A. Gemelli IRCCS (G.P., G.S., S.S.); Dipartimento Universitario di Neuroscienze, Università Cattolica Del Sacro Cuore (G.P., A.S., G.S., S.S.); and Unit of Muscular and Neurodegenerative Disorders (A.T., D.V., E.B., R.C.), Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Daniela VerrigniFondazione Policlinico Universitario A. Gemelli IRCCS (G.P., G.S., S.S.); Dipartimento Universitario di Neuroscienze, Università Cattolica Del Sacro Cuore (G.P., A.S., G.S., S.S.); and Unit of Muscular and Neurodegenerative Disorders (A.T., D.V., E.B., R.C.), Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Andrea SabinoFondazione Policlinico Universitario A. Gemelli IRCCS (G.P., G.S., S.S.); Dipartimento Universitario di Neuroscienze, Università Cattolica Del Sacro Cuore (G.P., A.S., G.S., S.S.); and Unit of Muscular and Neurodegenerative Disorders (A.T., D.V., E.B., R.C.), Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Enrico BertiniFondazione Policlinico Universitario A. Gemelli IRCCS (G.P., G.S., S.S.); Dipartimento Universitario di Neuroscienze, Università Cattolica Del Sacro Cuore (G.P., A.S., G.S., S.S.); and Unit of Muscular and Neurodegenerative Disorders (A.T., D.V., E.B., R.C.), Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.ORCID https://orcid.org/0000-0001-9276-4590
Rosalba CarrozzoFondazione Policlinico Universitario A. Gemelli IRCCS (G.P., G.S., S.S.); Dipartimento Universitario di Neuroscienze, Università Cattolica Del Sacro Cuore (G.P., A.S., G.S., S.S.); and Unit of Muscular and Neurodegenerative Disorders (A.T., D.V., E.B., R.C.), Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Gabriella SilvestriFondazione Policlinico Universitario A. Gemelli IRCCS (G.P., G.S., S.S.); Dipartimento Universitario di Neuroscienze, Università Cattolica Del Sacro Cuore (G.P., A.S., G.S., S.S.); and Unit of Muscular and Neurodegenerative Disorders (A.T., D.V., E.B., R.C.), Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Serenella ServideiFondazione Policlinico Universitario A. Gemelli IRCCS (G.P., G.S., S.S.); Dipartimento Universitario di Neuroscienze, Università Cattolica Del Sacro Cuore (G.P., A.S., G.S., S.S.); and Unit of Muscular and Neurodegenerative Disorders (A.T., D.V., E.B., R.C.), Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Agostino Gemelli University Polyclinic · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Objectives: Topoisomerase III alpha plays a key role in the dissolution of double Holliday junctions and is required for mitochondrial DNA (mtDNA) replication and maintenance. Sequence variants in the Methods: A 44-year-old woman was referred to our hospital because of exercise intolerance and creatine kinase increase. Muscle biopsy and a targeted next-generation sequencing (NGS) analysis were performed. Results: A histopathologic assessment documented a mitochondrial myopathy, and a molecular analysis revealed a novel homozygous variant in the Discussion: This case suggests that

Identifiers

PMID35812164
PMCPMC9258978
OpenAlexW4285029276

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.