Evidence map›Paper›PMID 41585230›Full record

ArticleFrontiers in medicine2025

Genotype-phenotype correlations in 18 European patients with heterozygous

Anna Uhrova Meszarosova, Elea Galiart, Petra Lassuthova, Konstantinos Kolokotronis, Benjamin Seidl, Alena Musilova, Anna Peckova, Alena Takacsova, Emilie Vyhnalkova, Dagmar Grecmalova and 6 more

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Article in Frontiers in medicine, 2025. 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. 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

16 authors.

Anna Uhrova MeszarosovaNeurogenetic Laboratory, Department of Paediatric Neurology, Second Faculty of Medicine Charles University and University Hospital Motol, Prague, Czechia.
Elea GaliartNeuromuscular Center Zurich and Department of Paediatric Neurology, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland.
Petra LassuthovaNeurogenetic Laboratory, Department of Paediatric Neurology, Second Faculty of Medicine Charles University and University Hospital Motol, Prague, Czechia.
Konstantinos KolokotronisInstitute of Medical Genetics, University of Zurich, Schlieren, Switzerland.
Benjamin SeidlInstitute of Medical Genetics, University of Zurich, Schlieren, Switzerland.
Alena MusilovaNeurogenetic Laboratory, Department of Paediatric Neurology, Second Faculty of Medicine Charles University and University Hospital Motol, Prague, Czechia.
Anna PeckovaDepartment of Medical Genetics, Masaryk Hospital, Ústí nad Labem, Czechia.
Alena TakacsovaDepartment of Medical Genetics and Genomics, Faculty Hospital, Brno, Czechia.
Emilie VyhnalkovaDepartment of Biology and Medical Genetics, Second Faculty of Medicine Charles University and University Hospital Motol, Prague, Czechia.
Dagmar GrecmalovaInstitute of Molecular and Clinical Pathology and Medical Genetics, University Hospital Ostrava and Institute of Laboratory Medicine, Medical Faculty, Ostrava, Czechia.
Eva VlckovaDepartment of Neurology, Masaryk University and University Hospital Brno, Brno, Czechia.
Vladana SkutilovaDepartment of Molecular Biology, Faculty Hospital Hradec Kralove, Hradec Kralove, Czechia.
Katharina SteindlInstitute of Medical Genetics, University of Zurich, Schlieren, Switzerland.
Anita RauchInstitute of Medical Genetics, University of Zurich, Schlieren, Switzerland.
Georg M Stettner *Neuromuscular Center Zurich and Department of Paediatric Neurology, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland.
Dana Safka Brozkova *Neurogenetic Laboratory, Department of Paediatric Neurology, Second Faculty of Medicine Charles University and University Hospital Motol, Prague, Czechia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Variants in the Methods: Patients from the Czech Republic and Switzerland were identified during DNA diagnostics for neuromuscular or neurodevelopmental disorders. Clinical and genetic data were analyzed retrospectively. Results: A total of 18 patients with heterozygous Conclusion: KAND phenotypes are not only limited to severe and early-onset phenotypes but also include adult-onset less severe ones. The localization of a missense

Indexed as

KIF1A-associated neurological disorderKIF1A pathogenic variantsneurodegenerationneuropathyspastic paraplegia

Identifiers

PMID41585230
PMCPMC12823886

What Socratic 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 Socratic graph.