Evidence map›Paper›PMID 39202358›Full record

ArticleGenes2024

The Clinical Heterogeneity of Spinal Muscular Atrophy with Respiratory Distress Type 1 (SMARD1)-A Report of Three Cases, Including Twins.

Alicja Leśniak, Marta Glińska, Michał Patalan, Iwona Ostrowska, Monika Świrska-Sobolewska, Kaja Giżewska-Kacprzak, Agata Kotkowiak, Anna Leśniak, Mieczysław Walczak, Robert Śmigiel and 1 more

Abstract readCase Reports
In one paragraph

Article in Genes, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. A class of deep intronicmedRxiv : the preprint server for health sciences · 2026
    Article
  2. Article
  3. 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

11 authors.

Alicja LeśniakDepartment of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology of the Developmental Age, Pomeranian Medical University in Szczecin, 71-252 Szczecin, Poland.ORCID 0000-0002-0760-5120
Marta GlińskaDepartment of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology of the Developmental Age, Pomeranian Medical University in Szczecin, 71-252 Szczecin, Poland.ORCID 0009-0002-2859-7200
Michał PatalanDepartment of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology of the Developmental Age, Pomeranian Medical University in Szczecin, 71-252 Szczecin, Poland.ORCID 0000-0002-5981-6456
Iwona OstrowskaDepartment of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology of the Developmental Age, Pomeranian Medical University in Szczecin, 71-252 Szczecin, Poland.
Monika Świrska-SobolewskaDepartment of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology of the Developmental Age, Pomeranian Medical University in Szczecin, 71-252 Szczecin, Poland.
Kaja Giżewska-KacprzakDepartment of Pediatric and Oncological Surgery, Urology and Hand Surgery, Pomeranian Medical University in Szczecin, Prof. Tadeusz Sokołowski University Clinical Hospital No. 1, 71-252 Szczecin, Poland.
Agata KotkowiakDepartment of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology of the Developmental Age, Pomeranian Medical University in Szczecin, 71-252 Szczecin, Poland.
Anna LeśniakDepartment of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology of the Developmental Age, Pomeranian Medical University in Szczecin, 71-252 Szczecin, Poland.
Mieczysław WalczakDepartment of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology of the Developmental Age, Pomeranian Medical University in Szczecin, 71-252 Szczecin, Poland.
Robert ŚmigielDepartment of Pediatrics, Endocrinology, Diabetology and Metabolic Diseases, Wroclaw Medical University, 50-368 Wroclaw, Poland.ORCID 0000-0003-2930-9549
Maria GiżewskaDepartment of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology of the Developmental Age, Pomeranian Medical University in Szczecin, 71-252 Szczecin, Poland.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Spinal muscular atrophy with respiratory distress type 1 (SMARD1; OMIM #604320, ORPHA:98920) is a rare autosomal recessive congenital motor neuron disease. It is caused by variants in the

Indexed as

DNA-Binding ProteinsMuscular Atrophy, SpinalRespiratory Distress Syndrome, NewbornTranscription FactorsFemaleHumansInfantInfant, NewbornMutationDNA-Binding ProteinsIGHMBP2 protein, humanTranscription Factorsdiaphragm paralysisDSMA1HMNR VIIGHMBP2progressive distal muscle weaknessSMARD1

Identifiers

PMID39202358
PMCPMC11353554

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.