ArticleNeurology. Genetics2023
Registry-linked trialOpen access · goldAbstract read
In one paragraph
Article in Neurology. Genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT04478981 (The Natural History of Patients With Congenital Muscular Dystrophies Due to Mutations in the SELENON or LAMA2 Genes), which is not on this map. Cited by 11 papers.
0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed
2.9field-weighted citation impact, top 9% of its field
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.
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.
The Natural History of Patients With Congenital Muscular Dystrophies Due to Mutations in the SELENON or LAMA2 Genes: Working Towards Trial-readiness in Two Mitochondrial Myopathy Mimics
Who cites it
11 citing papers in PubMed, 19 citations in OpenAlex.
- Clinical and functional outcome measures in LAMA2-related muscular dystrophy and SELENON-related myopathy; a 1.5-year natural history study.Journal of neuromuscular diseases · 2026Article
- Loss of cell-autonomously secreted laminin-α2 drives muscle stem cell dysfunction in LAMA2-related muscular dystrophy.Nature communications · 2025Article
- An international retrospective early natural history study of LAMA2-related dystrophies.Journal of neuromuscular diseases · 2024Article
- A 5-year natural history study in LAMA2-related muscular dystrophy and SELENON-related myopathy: the Extended LAST STRONG study.BMC neurology · 2024Observational
- Phenotype-genotype spectrum of a cohort of congenital muscular dystrophies: a single-centre experience from India.Neurogenetics · 2024Article
- Impact of demographics and comorbid conditions on plasma biomarkers concentrations and their diagnostic accuracy in a memory clinic cohort.Journal of neurology · 2024Article
- The congenital muscular dystrophies.Annals of the Child Neurology Society · 2024Review
- A Multicenter Cross-Sectional Study of the Swiss Cohort of LAMA2-Related Muscular Dystrophy.Journal of neuromuscular diseases · 2024Article
- Cardiac Involvement in LAMA2-Related Muscular Dystrophy and SELENON-Related Congenital Myopathy: A Case Series.Journal of neuromuscular diseases · 2024Article
- Meta-analysis of differential gene expression in lower motor neurons isolated by laser capture microdissection from post-mortem ALS spinal cords.Frontiers in genetics · 2024Article
- SELENON-Related Myopathy Across the Life Span, a Cross-Sectional Study for Preparing Trial Readiness.Journal of neuromuscular diseases · 2023Observational
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
14 authors at 1 institution in 2 countries.
Karlijn BoumanFrom the Department of Neurology (K.B., J.D., N.A., B.G.M.E., N.C.V.), Donders Institute for Brain, Cognition and Behaviour; Department of Pediatric Neurology (K.B., C.E.E.), Donders Institute for Brain, Cognition and Behaviour, Amalia Children's Hospital; Department of Rehabilitation (J.T.G.), Donders Institute for Brain, Cognition and Behaviour; Department of Pediatric Cardiology (F.E.A.U.C.), Amalia Children's Hospital; Department of Cardiology (F.M.A.H., R.N.); Department of Human Genetics (E.-J.K.); Department of Pediatrics (A.T.M.D., J.M.T.D.), Radboud Institute for Health Sciences, Amalia Children's Hospital; and Department of Internal Medicine (M.C.H.J.), Radboud University Medical Center, Nijmegen, The Netherlands.
Jan T GroothuisFrom the Department of Neurology (K.B., J.D., N.A., B.G.M.E., N.C.V.), Donders Institute for Brain, Cognition and Behaviour; Department of Pediatric Neurology (K.B., C.E.E.), Donders Institute for Brain, Cognition and Behaviour, Amalia Children's Hospital; Department of Rehabilitation (J.T.G.), Donders Institute for Brain, Cognition and Behaviour; Department of Pediatric Cardiology (F.E.A.U.C.), Amalia Children's Hospital; Department of Cardiology (F.M.A.H., R.N.); Department of Human Genetics (E.-J.K.); Department of Pediatrics (A.T.M.D., J.M.T.D.), Radboud Institute for Health Sciences, Amalia Children's Hospital; and Department of Internal Medicine (M.C.H.J.), Radboud University Medical Center, Nijmegen, The Netherlands.ORCID https://orcid.org/0000-0003-3436-2475
Jonne DoorduinFrom the Department of Neurology (K.B., J.D., N.A., B.G.M.E., N.C.V.), Donders Institute for Brain, Cognition and Behaviour; Department of Pediatric Neurology (K.B., C.E.E.), Donders Institute for Brain, Cognition and Behaviour, Amalia Children's Hospital; Department of Rehabilitation (J.T.G.), Donders Institute for Brain, Cognition and Behaviour; Department of Pediatric Cardiology (F.E.A.U.C.), Amalia Children's Hospital; Department of Cardiology (F.M.A.H., R.N.); Department of Human Genetics (E.-J.K.); Department of Pediatrics (A.T.M.D., J.M.T.D.), Radboud Institute for Health Sciences, Amalia Children's Hospital; and Department of Internal Medicine (M.C.H.J.), Radboud University Medical Center, Nijmegen, The Netherlands.
Nens van AlfenFrom the Department of Neurology (K.B., J.D., N.A., B.G.M.E., N.C.V.), Donders Institute for Brain, Cognition and Behaviour; Department of Pediatric Neurology (K.B., C.E.E.), Donders Institute for Brain, Cognition and Behaviour, Amalia Children's Hospital; Department of Rehabilitation (J.T.G.), Donders Institute for Brain, Cognition and Behaviour; Department of Pediatric Cardiology (F.E.A.U.C.), Amalia Children's Hospital; Department of Cardiology (F.M.A.H., R.N.); Department of Human Genetics (E.-J.K.); Department of Pediatrics (A.T.M.D., J.M.T.D.), Radboud Institute for Health Sciences, Amalia Children's Hospital; and Department of Internal Medicine (M.C.H.J.), Radboud University Medical Center, Nijmegen, The Netherlands.
Floris E A Udink Ten CateFrom the Department of Neurology (K.B., J.D., N.A., B.G.M.E., N.C.V.), Donders Institute for Brain, Cognition and Behaviour; Department of Pediatric Neurology (K.B., C.E.E.), Donders Institute for Brain, Cognition and Behaviour, Amalia Children's Hospital; Department of Rehabilitation (J.T.G.), Donders Institute for Brain, Cognition and Behaviour; Department of Pediatric Cardiology (F.E.A.U.C.), Amalia Children's Hospital; Department of Cardiology (F.M.A.H., R.N.); Department of Human Genetics (E.-J.K.); Department of Pediatrics (A.T.M.D., J.M.T.D.), Radboud Institute for Health Sciences, Amalia Children's Hospital; and Department of Internal Medicine (M.C.H.J.), Radboud University Medical Center, Nijmegen, The Netherlands.
Frederik M A van den HeuvelFrom the Department of Neurology (K.B., J.D., N.A., B.G.M.E., N.C.V.), Donders Institute for Brain, Cognition and Behaviour; Department of Pediatric Neurology (K.B., C.E.E.), Donders Institute for Brain, Cognition and Behaviour, Amalia Children's Hospital; Department of Rehabilitation (J.T.G.), Donders Institute for Brain, Cognition and Behaviour; Department of Pediatric Cardiology (F.E.A.U.C.), Amalia Children's Hospital; Department of Cardiology (F.M.A.H., R.N.); Department of Human Genetics (E.-J.K.); Department of Pediatrics (A.T.M.D., J.M.T.D.), Radboud Institute for Health Sciences, Amalia Children's Hospital; and Department of Internal Medicine (M.C.H.J.), Radboud University Medical Center, Nijmegen, The Netherlands.
Robin NijveldtFrom the Department of Neurology (K.B., J.D., N.A., B.G.M.E., N.C.V.), Donders Institute for Brain, Cognition and Behaviour; Department of Pediatric Neurology (K.B., C.E.E.), Donders Institute for Brain, Cognition and Behaviour, Amalia Children's Hospital; Department of Rehabilitation (J.T.G.), Donders Institute for Brain, Cognition and Behaviour; Department of Pediatric Cardiology (F.E.A.U.C.), Amalia Children's Hospital; Department of Cardiology (F.M.A.H., R.N.); Department of Human Genetics (E.-J.K.); Department of Pediatrics (A.T.M.D., J.M.T.D.), Radboud Institute for Health Sciences, Amalia Children's Hospital; and Department of Internal Medicine (M.C.H.J.), Radboud University Medical Center, Nijmegen, The Netherlands.
Erik-Jan KamsteegFrom the Department of Neurology (K.B., J.D., N.A., B.G.M.E., N.C.V.), Donders Institute for Brain, Cognition and Behaviour; Department of Pediatric Neurology (K.B., C.E.E.), Donders Institute for Brain, Cognition and Behaviour, Amalia Children's Hospital; Department of Rehabilitation (J.T.G.), Donders Institute for Brain, Cognition and Behaviour; Department of Pediatric Cardiology (F.E.A.U.C.), Amalia Children's Hospital; Department of Cardiology (F.M.A.H., R.N.); Department of Human Genetics (E.-J.K.); Department of Pediatrics (A.T.M.D., J.M.T.D.), Radboud Institute for Health Sciences, Amalia Children's Hospital; and Department of Internal Medicine (M.C.H.J.), Radboud University Medical Center, Nijmegen, The Netherlands.
Anne T M DittrichFrom the Department of Neurology (K.B., J.D., N.A., B.G.M.E., N.C.V.), Donders Institute for Brain, Cognition and Behaviour; Department of Pediatric Neurology (K.B., C.E.E.), Donders Institute for Brain, Cognition and Behaviour, Amalia Children's Hospital; Department of Rehabilitation (J.T.G.), Donders Institute for Brain, Cognition and Behaviour; Department of Pediatric Cardiology (F.E.A.U.C.), Amalia Children's Hospital; Department of Cardiology (F.M.A.H., R.N.); Department of Human Genetics (E.-J.K.); Department of Pediatrics (A.T.M.D., J.M.T.D.), Radboud Institute for Health Sciences, Amalia Children's Hospital; and Department of Internal Medicine (M.C.H.J.), Radboud University Medical Center, Nijmegen, The Netherlands.
Jos M T DraaismaFrom the Department of Neurology (K.B., J.D., N.A., B.G.M.E., N.C.V.), Donders Institute for Brain, Cognition and Behaviour; Department of Pediatric Neurology (K.B., C.E.E.), Donders Institute for Brain, Cognition and Behaviour, Amalia Children's Hospital; Department of Rehabilitation (J.T.G.), Donders Institute for Brain, Cognition and Behaviour; Department of Pediatric Cardiology (F.E.A.U.C.), Amalia Children's Hospital; Department of Cardiology (F.M.A.H., R.N.); Department of Human Genetics (E.-J.K.); Department of Pediatrics (A.T.M.D., J.M.T.D.), Radboud Institute for Health Sciences, Amalia Children's Hospital; and Department of Internal Medicine (M.C.H.J.), Radboud University Medical Center, Nijmegen, The Netherlands.
Mirian C H JanssenFrom the Department of Neurology (K.B., J.D., N.A., B.G.M.E., N.C.V.), Donders Institute for Brain, Cognition and Behaviour; Department of Pediatric Neurology (K.B., C.E.E.), Donders Institute for Brain, Cognition and Behaviour, Amalia Children's Hospital; Department of Rehabilitation (J.T.G.), Donders Institute for Brain, Cognition and Behaviour; Department of Pediatric Cardiology (F.E.A.U.C.), Amalia Children's Hospital; Department of Cardiology (F.M.A.H., R.N.); Department of Human Genetics (E.-J.K.); Department of Pediatrics (A.T.M.D., J.M.T.D.), Radboud Institute for Health Sciences, Amalia Children's Hospital; and Department of Internal Medicine (M.C.H.J.), Radboud University Medical Center, Nijmegen, The Netherlands.
Baziel G M van EngelenFrom the Department of Neurology (K.B., J.D., N.A., B.G.M.E., N.C.V.), Donders Institute for Brain, Cognition and Behaviour; Department of Pediatric Neurology (K.B., C.E.E.), Donders Institute for Brain, Cognition and Behaviour, Amalia Children's Hospital; Department of Rehabilitation (J.T.G.), Donders Institute for Brain, Cognition and Behaviour; Department of Pediatric Cardiology (F.E.A.U.C.), Amalia Children's Hospital; Department of Cardiology (F.M.A.H., R.N.); Department of Human Genetics (E.-J.K.); Department of Pediatrics (A.T.M.D., J.M.T.D.), Radboud Institute for Health Sciences, Amalia Children's Hospital; and Department of Internal Medicine (M.C.H.J.), Radboud University Medical Center, Nijmegen, The Netherlands.
Corrie E ErasmusFrom the Department of Neurology (K.B., J.D., N.A., B.G.M.E., N.C.V.), Donders Institute for Brain, Cognition and Behaviour; Department of Pediatric Neurology (K.B., C.E.E.), Donders Institute for Brain, Cognition and Behaviour, Amalia Children's Hospital; Department of Rehabilitation (J.T.G.), Donders Institute for Brain, Cognition and Behaviour; Department of Pediatric Cardiology (F.E.A.U.C.), Amalia Children's Hospital; Department of Cardiology (F.M.A.H., R.N.); Department of Human Genetics (E.-J.K.); Department of Pediatrics (A.T.M.D., J.M.T.D.), Radboud Institute for Health Sciences, Amalia Children's Hospital; and Department of Internal Medicine (M.C.H.J.), Radboud University Medical Center, Nijmegen, The Netherlands.
Nicol C VoermansFrom the Department of Neurology (K.B., J.D., N.A., B.G.M.E., N.C.V.), Donders Institute for Brain, Cognition and Behaviour; Department of Pediatric Neurology (K.B., C.E.E.), Donders Institute for Brain, Cognition and Behaviour, Amalia Children's Hospital; Department of Rehabilitation (J.T.G.), Donders Institute for Brain, Cognition and Behaviour; Department of Pediatric Cardiology (F.E.A.U.C.), Amalia Children's Hospital; Department of Cardiology (F.M.A.H., R.N.); Department of Human Genetics (E.-J.K.); Department of Pediatrics (A.T.M.D., J.M.T.D.), Radboud Institute for Health Sciences, Amalia Children's Hospital; and Department of Internal Medicine (M.C.H.J.), Radboud University Medical Center, Nijmegen, The Netherlands.
United States Nuclear Regulatory Commission · US
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background and Objectives: Methods: We performed a cross-sectional, single-center, observational study. This study included neurologic examination and functional measurements among others the Motor Function Measure 20/32 (MFM-20/32) as primary outcome measure, accelerometry, questionnaires, muscle ultrasound, respiratory function tests, electrocardiography and echocardiography, and dual-energy X-ray absorptiometry. Results: Twenty-seven patients with genetically confirmed Discussion: Clinical Trials Registration: This study was registered at clinicaltrials.gov (NCT04478981, 21 July 2020). The first patient was enrolled in September 2020.
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LicenceCC BY-NC-ND
Read underepoch 390
Registered trials
NCT04478981ClinicalTrials.gov
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.