ArticleNeurology2023
Long-term Natural History of Pediatric Dominant and Recessive
Open access · greenAbstract read
In one paragraph
Article in Neurology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
2.0field-weighted citation impact, top 13% of its field
What it found
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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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
8 citing papers in PubMed, 13 citations in OpenAlex.
- Exercise capacity in RYR1-related myopathies.Orphanet journal of rare diseases · 2025Trial
- An international patient survey of RYR1-related diseases: The patient perspective on clinical trial participation.Journal of neuromuscular diseases · 2026Article
- Arthrogryposis Multiplex Congenita: Comprehensive Review from a Neuromuscular Standpoint.Genes · 2026Review
- The Clinical, Histological, and Genetic Spectrum ofJournal of clinical medicine · 2026Article
- Case Report: RYR1-related myopathy with hypoxic ischemic encephalopathy-a case of severe neonatal presentation due to aFrontiers in pediatrics · 2026Article
- Massive reduction of RyR1 in muscle spindles of mice carrying recessive Ryr1 mutations alters proprioception and causes scoliosis.The Journal of physiology · 2025Article
- Disease Trajectories of a Large French Cohort of 142 Congenital Myopathy Patients in Adult Age.European journal of neurology · 2025Observational
- A novel, patient-derived RyR1 mutation impairs muscle function and calcium homeostasis in mice.The Journal of general physiology · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
19 authors at 1 institution in 3 countries.
Anna SarkozyFrom the Dubowitz Neuromuscular Centre (A.S., M.Sa, M.G.D., M.M., A.Y.M., P.M., S.R., R.Q., M. Scoto, G.B., R.P., F.M.), UCL Great Ormond Street Institute of Child Health & MRC Centre for Neuromuscular Diseases; Department of Paediatric Neurology (M. Sa, M.A.F.-G., E.W., V.G., H.J.), Neuromuscular Service, Evelina Children's Hospital, Guy's and St Thomas' Hospital NHS Foundation Trust; Department of Population, Policy and Practice (D.R.), UCL Institute of Child Health; National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre (D.R., F.M.); Paediatric Physiotherapy (J.S.), Evelina Children's Hospital, Guy's and St Thomas' Hospital NHS Foundation Trust; DNA Laboratory (R.M.), Viapath, Guy's Hospital; and Randall Centre for Cell and Molecular Biophysics (H.J.), Muscle Signaling Section, Faculty of Life Sciences and Medicine, King's College London, United Kingdom.
Mario SaFrom the Dubowitz Neuromuscular Centre (A.S., M.Sa, M.G.D., M.M., A.Y.M., P.M., S.R., R.Q., M. Scoto, G.B., R.P., F.M.), UCL Great Ormond Street Institute of Child Health & MRC Centre for Neuromuscular Diseases; Department of Paediatric Neurology (M. Sa, M.A.F.-G., E.W., V.G., H.J.), Neuromuscular Service, Evelina Children's Hospital, Guy's and St Thomas' Hospital NHS Foundation Trust; Department of Population, Policy and Practice (D.R.), UCL Institute of Child Health; National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre (D.R., F.M.); Paediatric Physiotherapy (J.S.), Evelina Children's Hospital, Guy's and St Thomas' Hospital NHS Foundation Trust; DNA Laboratory (R.M.), Viapath, Guy's Hospital; and Randall Centre for Cell and Molecular Biophysics (H.J.), Muscle Signaling Section, Faculty of Life Sciences and Medicine, King's College London, United Kingdom.
Deborah RidoutFrom the Dubowitz Neuromuscular Centre (A.S., M.Sa, M.G.D., M.M., A.Y.M., P.M., S.R., R.Q., M. Scoto, G.B., R.P., F.M.), UCL Great Ormond Street Institute of Child Health & MRC Centre for Neuromuscular Diseases; Department of Paediatric Neurology (M. Sa, M.A.F.-G., E.W., V.G., H.J.), Neuromuscular Service, Evelina Children's Hospital, Guy's and St Thomas' Hospital NHS Foundation Trust; Department of Population, Policy and Practice (D.R.), UCL Institute of Child Health; National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre (D.R., F.M.); Paediatric Physiotherapy (J.S.), Evelina Children's Hospital, Guy's and St Thomas' Hospital NHS Foundation Trust; DNA Laboratory (R.M.), Viapath, Guy's Hospital; and Randall Centre for Cell and Molecular Biophysics (H.J.), Muscle Signaling Section, Faculty of Life Sciences and Medicine, King's College London, United Kingdom.
Miguel Angel Fernandez-GarciaFrom the Dubowitz Neuromuscular Centre (A.S., M.Sa, M.G.D., M.M., A.Y.M., P.M., S.R., R.Q., M. Scoto, G.B., R.P., F.M.), UCL Great Ormond Street Institute of Child Health & MRC Centre for Neuromuscular Diseases; Department of Paediatric Neurology (M. Sa, M.A.F.-G., E.W., V.G., H.J.), Neuromuscular Service, Evelina Children's Hospital, Guy's and St Thomas' Hospital NHS Foundation Trust; Department of Population, Policy and Practice (D.R.), UCL Institute of Child Health; National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre (D.R., F.M.); Paediatric Physiotherapy (J.S.), Evelina Children's Hospital, Guy's and St Thomas' Hospital NHS Foundation Trust; DNA Laboratory (R.M.), Viapath, Guy's Hospital; and Randall Centre for Cell and Molecular Biophysics (H.J.), Muscle Signaling Section, Faculty of Life Sciences and Medicine, King's College London, United Kingdom.
Maria Grazia DistefanoFrom the Dubowitz Neuromuscular Centre (A.S., M.Sa, M.G.D., M.M., A.Y.M., P.M., S.R., R.Q., M. Scoto, G.B., R.P., F.M.), UCL Great Ormond Street Institute of Child Health & MRC Centre for Neuromuscular Diseases; Department of Paediatric Neurology (M. Sa, M.A.F.-G., E.W., V.G., H.J.), Neuromuscular Service, Evelina Children's Hospital, Guy's and St Thomas' Hospital NHS Foundation Trust; Department of Population, Policy and Practice (D.R.), UCL Institute of Child Health; National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre (D.R., F.M.); Paediatric Physiotherapy (J.S.), Evelina Children's Hospital, Guy's and St Thomas' Hospital NHS Foundation Trust; DNA Laboratory (R.M.), Viapath, Guy's Hospital; and Randall Centre for Cell and Molecular Biophysics (H.J.), Muscle Signaling Section, Faculty of Life Sciences and Medicine, King's College London, United Kingdom.
Marion MainFrom the Dubowitz Neuromuscular Centre (A.S., M.Sa, M.G.D., M.M., A.Y.M., P.M., S.R., R.Q., M. Scoto, G.B., R.P., F.M.), UCL Great Ormond Street Institute of Child Health & MRC Centre for Neuromuscular Diseases; Department of Paediatric Neurology (M. Sa, M.A.F.-G., E.W., V.G., H.J.), Neuromuscular Service, Evelina Children's Hospital, Guy's and St Thomas' Hospital NHS Foundation Trust; Department of Population, Policy and Practice (D.R.), UCL Institute of Child Health; National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre (D.R., F.M.); Paediatric Physiotherapy (J.S.), Evelina Children's Hospital, Guy's and St Thomas' Hospital NHS Foundation Trust; DNA Laboratory (R.M.), Viapath, Guy's Hospital; and Randall Centre for Cell and Molecular Biophysics (H.J.), Muscle Signaling Section, Faculty of Life Sciences and Medicine, King's College London, United Kingdom.
Jennie SheehanFrom the Dubowitz Neuromuscular Centre (A.S., M.Sa, M.G.D., M.M., A.Y.M., P.M., S.R., R.Q., M. Scoto, G.B., R.P., F.M.), UCL Great Ormond Street Institute of Child Health & MRC Centre for Neuromuscular Diseases; Department of Paediatric Neurology (M. Sa, M.A.F.-G., E.W., V.G., H.J.), Neuromuscular Service, Evelina Children's Hospital, Guy's and St Thomas' Hospital NHS Foundation Trust; Department of Population, Policy and Practice (D.R.), UCL Institute of Child Health; National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre (D.R., F.M.); Paediatric Physiotherapy (J.S.), Evelina Children's Hospital, Guy's and St Thomas' Hospital NHS Foundation Trust; DNA Laboratory (R.M.), Viapath, Guy's Hospital; and Randall Centre for Cell and Molecular Biophysics (H.J.), Muscle Signaling Section, Faculty of Life Sciences and Medicine, King's College London, United Kingdom.
Adnan Y ManzurFrom the Dubowitz Neuromuscular Centre (A.S., M.Sa, M.G.D., M.M., A.Y.M., P.M., S.R., R.Q., M. Scoto, G.B., R.P., F.M.), UCL Great Ormond Street Institute of Child Health & MRC Centre for Neuromuscular Diseases; Department of Paediatric Neurology (M. Sa, M.A.F.-G., E.W., V.G., H.J.), Neuromuscular Service, Evelina Children's Hospital, Guy's and St Thomas' Hospital NHS Foundation Trust; Department of Population, Policy and Practice (D.R.), UCL Institute of Child Health; National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre (D.R., F.M.); Paediatric Physiotherapy (J.S.), Evelina Children's Hospital, Guy's and St Thomas' Hospital NHS Foundation Trust; DNA Laboratory (R.M.), Viapath, Guy's Hospital; and Randall Centre for Cell and Molecular Biophysics (H.J.), Muscle Signaling Section, Faculty of Life Sciences and Medicine, King's College London, United Kingdom.
Pinki MunotFrom the Dubowitz Neuromuscular Centre (A.S., M.Sa, M.G.D., M.M., A.Y.M., P.M., S.R., R.Q., M. Scoto, G.B., R.P., F.M.), UCL Great Ormond Street Institute of Child Health & MRC Centre for Neuromuscular Diseases; Department of Paediatric Neurology (M. Sa, M.A.F.-G., E.W., V.G., H.J.), Neuromuscular Service, Evelina Children's Hospital, Guy's and St Thomas' Hospital NHS Foundation Trust; Department of Population, Policy and Practice (D.R.), UCL Institute of Child Health; National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre (D.R., F.M.); Paediatric Physiotherapy (J.S.), Evelina Children's Hospital, Guy's and St Thomas' Hospital NHS Foundation Trust; DNA Laboratory (R.M.), Viapath, Guy's Hospital; and Randall Centre for Cell and Molecular Biophysics (H.J.), Muscle Signaling Section, Faculty of Life Sciences and Medicine, King's College London, United Kingdom.ORCID 0000-0001-9900-798X
Stephanie RobbFrom the Dubowitz Neuromuscular Centre (A.S., M.Sa, M.G.D., M.M., A.Y.M., P.M., S.R., R.Q., M. Scoto, G.B., R.P., F.M.), UCL Great Ormond Street Institute of Child Health & MRC Centre for Neuromuscular Diseases; Department of Paediatric Neurology (M. Sa, M.A.F.-G., E.W., V.G., H.J.), Neuromuscular Service, Evelina Children's Hospital, Guy's and St Thomas' Hospital NHS Foundation Trust; Department of Population, Policy and Practice (D.R.), UCL Institute of Child Health; National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre (D.R., F.M.); Paediatric Physiotherapy (J.S.), Evelina Children's Hospital, Guy's and St Thomas' Hospital NHS Foundation Trust; DNA Laboratory (R.M.), Viapath, Guy's Hospital; and Randall Centre for Cell and Molecular Biophysics (H.J.), Muscle Signaling Section, Faculty of Life Sciences and Medicine, King's College London, United Kingdom.
Elizabeth WraigeFrom the Dubowitz Neuromuscular Centre (A.S., M.Sa, M.G.D., M.M., A.Y.M., P.M., S.R., R.Q., M. Scoto, G.B., R.P., F.M.), UCL Great Ormond Street Institute of Child Health & MRC Centre for Neuromuscular Diseases; Department of Paediatric Neurology (M. Sa, M.A.F.-G., E.W., V.G., H.J.), Neuromuscular Service, Evelina Children's Hospital, Guy's and St Thomas' Hospital NHS Foundation Trust; Department of Population, Policy and Practice (D.R.), UCL Institute of Child Health; National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre (D.R., F.M.); Paediatric Physiotherapy (J.S.), Evelina Children's Hospital, Guy's and St Thomas' Hospital NHS Foundation Trust; DNA Laboratory (R.M.), Viapath, Guy's Hospital; and Randall Centre for Cell and Molecular Biophysics (H.J.), Muscle Signaling Section, Faculty of Life Sciences and Medicine, King's College London, United Kingdom.
Rosaline QuinlivanFrom the Dubowitz Neuromuscular Centre (A.S., M.Sa, M.G.D., M.M., A.Y.M., P.M., S.R., R.Q., M. Scoto, G.B., R.P., F.M.), UCL Great Ormond Street Institute of Child Health & MRC Centre for Neuromuscular Diseases; Department of Paediatric Neurology (M. Sa, M.A.F.-G., E.W., V.G., H.J.), Neuromuscular Service, Evelina Children's Hospital, Guy's and St Thomas' Hospital NHS Foundation Trust; Department of Population, Policy and Practice (D.R.), UCL Institute of Child Health; National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre (D.R., F.M.); Paediatric Physiotherapy (J.S.), Evelina Children's Hospital, Guy's and St Thomas' Hospital NHS Foundation Trust; DNA Laboratory (R.M.), Viapath, Guy's Hospital; and Randall Centre for Cell and Molecular Biophysics (H.J.), Muscle Signaling Section, Faculty of Life Sciences and Medicine, King's College London, United Kingdom.
Mariacristina ScotoFrom the Dubowitz Neuromuscular Centre (A.S., M.Sa, M.G.D., M.M., A.Y.M., P.M., S.R., R.Q., M. Scoto, G.B., R.P., F.M.), UCL Great Ormond Street Institute of Child Health & MRC Centre for Neuromuscular Diseases; Department of Paediatric Neurology (M. Sa, M.A.F.-G., E.W., V.G., H.J.), Neuromuscular Service, Evelina Children's Hospital, Guy's and St Thomas' Hospital NHS Foundation Trust; Department of Population, Policy and Practice (D.R.), UCL Institute of Child Health; National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre (D.R., F.M.); Paediatric Physiotherapy (J.S.), Evelina Children's Hospital, Guy's and St Thomas' Hospital NHS Foundation Trust; DNA Laboratory (R.M.), Viapath, Guy's Hospital; and Randall Centre for Cell and Molecular Biophysics (H.J.), Muscle Signaling Section, Faculty of Life Sciences and Medicine, King's College London, United Kingdom.
Giovanni BaranelloFrom the Dubowitz Neuromuscular Centre (A.S., M.Sa, M.G.D., M.M., A.Y.M., P.M., S.R., R.Q., M. Scoto, G.B., R.P., F.M.), UCL Great Ormond Street Institute of Child Health & MRC Centre for Neuromuscular Diseases; Department of Paediatric Neurology (M. Sa, M.A.F.-G., E.W., V.G., H.J.), Neuromuscular Service, Evelina Children's Hospital, Guy's and St Thomas' Hospital NHS Foundation Trust; Department of Population, Policy and Practice (D.R.), UCL Institute of Child Health; National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre (D.R., F.M.); Paediatric Physiotherapy (J.S.), Evelina Children's Hospital, Guy's and St Thomas' Hospital NHS Foundation Trust; DNA Laboratory (R.M.), Viapath, Guy's Hospital; and Randall Centre for Cell and Molecular Biophysics (H.J.), Muscle Signaling Section, Faculty of Life Sciences and Medicine, King's College London, United Kingdom.
Vasantha GowdaFrom the Dubowitz Neuromuscular Centre (A.S., M.Sa, M.G.D., M.M., A.Y.M., P.M., S.R., R.Q., M. Scoto, G.B., R.P., F.M.), UCL Great Ormond Street Institute of Child Health & MRC Centre for Neuromuscular Diseases; Department of Paediatric Neurology (M. Sa, M.A.F.-G., E.W., V.G., H.J.), Neuromuscular Service, Evelina Children's Hospital, Guy's and St Thomas' Hospital NHS Foundation Trust; Department of Population, Policy and Practice (D.R.), UCL Institute of Child Health; National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre (D.R., F.M.); Paediatric Physiotherapy (J.S.), Evelina Children's Hospital, Guy's and St Thomas' Hospital NHS Foundation Trust; DNA Laboratory (R.M.), Viapath, Guy's Hospital; and Randall Centre for Cell and Molecular Biophysics (H.J.), Muscle Signaling Section, Faculty of Life Sciences and Medicine, King's College London, United Kingdom.
Rachael MeinFrom the Dubowitz Neuromuscular Centre (A.S., M.Sa, M.G.D., M.M., A.Y.M., P.M., S.R., R.Q., M. Scoto, G.B., R.P., F.M.), UCL Great Ormond Street Institute of Child Health & MRC Centre for Neuromuscular Diseases; Department of Paediatric Neurology (M. Sa, M.A.F.-G., E.W., V.G., H.J.), Neuromuscular Service, Evelina Children's Hospital, Guy's and St Thomas' Hospital NHS Foundation Trust; Department of Population, Policy and Practice (D.R.), UCL Institute of Child Health; National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre (D.R., F.M.); Paediatric Physiotherapy (J.S.), Evelina Children's Hospital, Guy's and St Thomas' Hospital NHS Foundation Trust; DNA Laboratory (R.M.), Viapath, Guy's Hospital; and Randall Centre for Cell and Molecular Biophysics (H.J.), Muscle Signaling Section, Faculty of Life Sciences and Medicine, King's College London, United Kingdom.
Rahul PhadkeFrom the Dubowitz Neuromuscular Centre (A.S., M.Sa, M.G.D., M.M., A.Y.M., P.M., S.R., R.Q., M. Scoto, G.B., R.P., F.M.), UCL Great Ormond Street Institute of Child Health & MRC Centre for Neuromuscular Diseases; Department of Paediatric Neurology (M. Sa, M.A.F.-G., E.W., V.G., H.J.), Neuromuscular Service, Evelina Children's Hospital, Guy's and St Thomas' Hospital NHS Foundation Trust; Department of Population, Policy and Practice (D.R.), UCL Institute of Child Health; National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre (D.R., F.M.); Paediatric Physiotherapy (J.S.), Evelina Children's Hospital, Guy's and St Thomas' Hospital NHS Foundation Trust; DNA Laboratory (R.M.), Viapath, Guy's Hospital; and Randall Centre for Cell and Molecular Biophysics (H.J.), Muscle Signaling Section, Faculty of Life Sciences and Medicine, King's College London, United Kingdom.
Heinz JungbluthFrom the Dubowitz Neuromuscular Centre (A.S., M.Sa, M.G.D., M.M., A.Y.M., P.M., S.R., R.Q., M. Scoto, G.B., R.P., F.M.), UCL Great Ormond Street Institute of Child Health & MRC Centre for Neuromuscular Diseases; Department of Paediatric Neurology (M. Sa, M.A.F.-G., E.W., V.G., H.J.), Neuromuscular Service, Evelina Children's Hospital, Guy's and St Thomas' Hospital NHS Foundation Trust; Department of Population, Policy and Practice (D.R.), UCL Institute of Child Health; National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre (D.R., F.M.); Paediatric Physiotherapy (J.S.), Evelina Children's Hospital, Guy's and St Thomas' Hospital NHS Foundation Trust; DNA Laboratory (R.M.), Viapath, Guy's Hospital; and Randall Centre for Cell and Molecular Biophysics (H.J.), Muscle Signaling Section, Faculty of Life Sciences and Medicine, King's College London, United Kingdom.
Francesco MuntoniFrom the Dubowitz Neuromuscular Centre (A.S., M.Sa, M.G.D., M.M., A.Y.M., P.M., S.R., R.Q., M. Scoto, G.B., R.P., F.M.), UCL Great Ormond Street Institute of Child Health & MRC Centre for Neuromuscular Diseases; Department of Paediatric Neurology (M. Sa, M.A.F.-G., E.W., V.G., H.J.), Neuromuscular Service, Evelina Children's Hospital, Guy's and St Thomas' Hospital NHS Foundation Trust; Department of Population, Policy and Practice (D.R.), UCL Institute of Child Health; National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre (D.R., F.M.); Paediatric Physiotherapy (J.S.), Evelina Children's Hospital, Guy's and St Thomas' Hospital NHS Foundation Trust; DNA Laboratory (R.M.), Viapath, Guy's Hospital; and Randall Centre for Cell and Molecular Biophysics (H.J.), Muscle Signaling Section, Faculty of Life Sciences and Medicine, King's College London, United Kingdom. f.muntoni@ucl.ac.uk.ORCID 0000-0002-9102-5232
Guy's Hospital · GB
Funding
Department of Health
Abstract
BACKGROUND AND
objectives
methodsA cross-sectional and longitudinal retrospective data analysis of pediatric cases with
resultsSixty-nine patients were included in the study, 63 in both cross-sectional and longitudinal studies and 6 in the cross-sectional analysis only. Onset ranged from birth to 7 years. Twenty-nine patients had an autosomal dominant DISCUSSION: This clinical study provides long-term data on disease progression in
Indexed as
Muscular DiseasesRyanodine Receptor Calcium Release ChannelChildCross-Sectional StudiesHumansInfant, NewbornMuscle HypotoniaMuscle, SkeletalMutationRetrospective StudiesRyanodine Receptor Calcium Release Channel
Identifiers
What OpenQuestion holds
Textmetadata
Read underepoch 390
Registered trials
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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.