Evidence map›Paper›PMID 42318512›Full record

ArticleBrain communications2026

Efficacy and safety of pyrimidine nucleos(t)ide therapy in thymidine kinase 2 deficiency.

Michio Hirano, Caterina Garone, Richard Haas, Carmen Paradas, Fernando Scaglia, Irene Rebollo Mesa, Carl Chiang, Anny-Odile Colson, Susan VanMeter, Cristina Domínguez-González

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Brain communications, 2026. 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. Use of nucleoside therapy for mitochondrial DNA depletion/deletion syndrome (MDDS).Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2026
    Article
  2. 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

10 authors.

Michio HiranoDepartment of Neurology, H. Houston Merritt Center for Neuromuscular Disorders, Columbia University Irving Medical Center, New York, NY 10032, USA.ORCID https://orcid.org/0000-0002-7070-7402
Caterina GaroneDepartment of Medical and Surgical Sciences, Alma Mater Studiorum, University of Bologna, Bologna 40138, Italy.ORCID https://orcid.org/0000-0003-4928-1037
Richard HaasDepartment of Neurosciences, University of California San Diego and Rady Children's Hospital, San Diego, CA 92093, USA.
Carmen ParadasNeurology Department, Neuromuscular Disorders Unit, Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocío, Consejo Superior de Investigaciones Científicas, University of Seville, Seville 41013, Spain.
Fernando ScagliaDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.ORCID https://orcid.org/0000-0003-3502-8460
Irene Rebollo MesaBiometrics and Data Science, UCB, Madrid 28020, Spain.ORCID https://orcid.org/0009-0004-0635-2485
Carl ChiangGlobal Clinical Development, UCB, Morrisville, NC 27560, USA.ORCID https://orcid.org/0009-0007-7605-8486
Anny-Odile ColsonSafety Risk Management, UCB, Colombes, Paris 92700, France.ORCID https://orcid.org/0009-0006-6444-1501
Susan VanMeterGlobal Clinical Development, UCB, Morrisville, NC 27560, USA.ORCID https://orcid.org/0000-0001-5994-803X
Cristina Domínguez-GonzálezNeuromuscular Unit, Neurology Department, Hospital Universitario 12 de Octubre, Madrid 28041, Spain.ORCID https://orcid.org/0000-0001-5151-988X

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Thymidine kinase 2 deficiency (TK2d) (MIM 609560) is an ultra-rare, autosomal recessive mitochondrial myopathy caused by

Indexed as

mitochondrial myopathypyrimidine nucleos(t)ide therapysurvivalthymidine kinase 2 deficiencytreatment efficacy

Identifiers

PMID42318512
PMCPMC13273412

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.