Evidence map›Paper›PMID 42842021›Full record

ArticleActa neuropathologica2026

Neurogenic muscular atrophy in NHP2-related dyskeratosis congenita in a family: pathological and molecular insights.

Doriana Misceo, Lisa Lirussi, Ellen-Ann Antal, Alma Sikiric, Kristin Ørstavik, Pål Marius Bjørnstad, Arvind Y M Sundaram, Areej Ibrahim Elkamil, Q Ying Esbensen, Tordis Bøker and 5 more

Abstract readLetter
PubMed Publisher
In one paragraph

Article in Acta neuropathologica, 2026. 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
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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

15 authors.

Doriana Misceo *Department of Medical Genetics, Oslo University Hospital and University of Oslo, 0450, Oslo, Norway.ORCID http://orcid.org/0000-0002-6594-5801
Lisa Lirussi *Section of Clinical Molecular Biology (EpiGen), Akershus University Hospital, 1478, Lørenskog, Norway.ORCID http://orcid.org/0000-0002-2111-5152
Ellen-Ann AntalDepartment of Pathology, Oslo University Hospital, 0424, Oslo, Norway.
Alma SikiricDepartment of Neurohabilitation, Oslo University Hospital, 0424, Oslo, Norway.ORCID http://orcid.org/0009-0008-4524-3301
Kristin ØrstavikSection for Rare Neurological Disorders and Unit for Congenital and Hereditary Neuromuscular Disorders (EMAN), Department of Neurology, Oslo University Hospital, 0424, Oslo, Norway.ORCID http://orcid.org/0000-0001-7900-7093
Pål Marius BjørnstadDepartment of Medical Genetics, Oslo University Hospital and University of Oslo, 0450, Oslo, Norway.ORCID http://orcid.org/0000-0001-6217-7467
Arvind Y M SundaramDepartment of Medical Genetics, Oslo University Hospital and University of Oslo, 0450, Oslo, Norway.ORCID http://orcid.org/0000-0002-3007-7784
Areej Ibrahim ElkamilDivision of Pediatrics and Adolescent Medicine, Oslo University Hospital, 0450, Oslo, Norway.
Q Ying EsbensenSection of Clinical Molecular Biology (EpiGen), Akershus University Hospital, 1478, Lørenskog, Norway.
Tordis BøkerDivision of Radiology and Nuclear Medicine, Oslo University Hospital and University of Oslo, 0450, Oslo, Norway.ORCID http://orcid.org/0000-0001-5657-7907
Sverre Henning BrorsonDepartment of Neurohabilitation, Oslo University Hospital, 0424, Oslo, Norway.
Eystein Hellstrøm HoddevikDepartment of Pathology, Oslo University Hospital, 0424, Oslo, Norway.ORCID http://orcid.org/0009-0005-7249-987X
Hilde Loge NilsenSection of Clinical Molecular Biology (EpiGen), Akershus University Hospital, 1478, Lørenskog, Norway.ORCID http://orcid.org/0000-0003-2115-2663
Eirik FrengenDepartment of Medical Genetics, Oslo University Hospital and University of Oslo, 0450, Oslo, Norway.ORCID http://orcid.org/0000-0002-8387-2247
Petter StrømmeDivision of Pediatrics and Adolescent Medicine, Oslo University Hospital and University of Oslo, 0450, Oslo, Norway. petter.stromme@medisin.uio.no.ORCID https://orcid.org/0000-0003-3421-8131

Funding

Research Council of Norway 332713
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Identifiers

PMID42842021

What OpenQuestion holds

Textmetadata
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.