In one paragraphArticle in Journal of neuromuscular diseases, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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0citing papers in PubMed
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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.
2 · The registryThe trial behind it
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3 · Its place in the literatureWho cites it
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4 · The recordCorrections and comments
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5 · Who and what moneyAuthors and funding
39 authors.
Benedikt BeckerDepartment of Neurology, Klinikum rechts der Isar, Technical University of Munich, School of Medicine and Health, Munich, Germany.ORCID 0009-0001-9459-4991 Isabell CordtsDepartment of Neurology, Klinikum rechts der Isar, Technical University of Munich, School of Medicine and Health, Munich, Germany.ORCID 0000-0002-2078-1997 Jutta BeckerInstitute of Human Genetics, Center for Molecular Medicine, and Center for Rare Diseases and Institute for Genetics, University Hospital of Cologne, University of Cologne, Cologne, Germany.ORCID 0000-0001-7121-3511 Rene GüntherDepartment of Neurology, University Hospital Carl Gustav Carus, Technical University of Dresden, Dresden, Germany.ORCID 0000-0003-0329-5644 Matthias BaumannDepartment of Pediatrics I, Division of Pediatric Neurology, Medical University of Innsbruck, Innsbruck, Austria.ORCID 0000-0003-4471-8324 Astrid EisenkölblDepartment of Paediatrics and Adolescent Medicine, Johannes Kepler University Linz, Kepler University Hospital, Linz, Austria.ORCID 0000-0001-5176-1262 Marina Flotats-BastardasDepartment of General Pediatrics and Neonatology, Division of Neuropediatrics, Saarland University, Homburg Saar, Germany.ORCID 0000-0001-7696-4808 Martin FlegerDepartment of Pediatrics, Bregenz Regional Hospital, Bregenz, Austria.
Tim HagenackerDepartment of Neurology, and Center for Translational Neuro- and Behavioral Sciences (C-TNBS), University Medicine Essen, Essen, Germany.ORCID 0000-0002-3631-3450 Andreas HahnDepartment of Child Neurology, Justus-Liebig University, Giessen, Germany.
Elke HobbiebrunkenDepartment of Pediatrics and Adolescent Medicine, Division of Pediatric Neurology, University Medical Center Göttingen, Georg August University, Göttingen, Germany.ORCID 0009-0003-3614-839X Jörg JahnelDivision of General Pediatrics, Department of Pediatrics and Adolescent Medicine, LKH Klagenfurt, Medical University of Graz, Graz, Austria.ORCID 0000-0002-2897-753X Jessika JohannsenDepartment of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.ORCID 0000-0002-2095-3891 Cornelia KöhlerRuhr University Bochum, St Josef-Hospital, Department for Neuropediatrics, University Medical Center for Pediatrics and Adolescent Medicine, Bochum, Germany.
Heike KölbelDepartment of Neuropediatrics and Neuromuscular Centre for Children and Adolescents, Center for Translational Neuro- and Behavioral Sciences, University of Duisburg-Essen, Essen, Germany.ORCID 0000-0001-9629-7053 Christoph NeuwirthNeuromuscular Diseases Unit / ALS Clinic, Cantonal Hospital St Gallen, St. Gallen, Switzerland.ORCID 0000-0002-1874-8872 Barbara PleckoDepartment of Pediatrics and Adolescent Medicine, Division of General Pediatrics, Medical University of Graz, Graz, Austria.ORCID 0000-0002-3203-1325 Christian StadlerDepartment of Neurology, Klinikum Klagenfurt am Wörthersee, Klagenfurt am Wörthersee, Austria.
Martin SmitkaDepartment of Neuropediatrics, UMC Carl Gustav Carus, Technical University of Dresden, Dresden, Germany.
Regina TrollmannDepartment of Pediatrics, Division of Pediatric Neurology, Friedrich-Alexander-University of Erlangen-Nürnberg, Erlangen, Germany.ORCID 0000-0001-6031-8537 Andreas ZieglerDepartment of Neuropediatrics and Metabolic Medicine, University Hospital Heidelberg, Heidelberg, Germany.
Susanne GoldbachDeutsche Gesellschaft für Muskelkranke, Freiburg, Germany.
Kristina Probst-SchendzielorzDeutsche Gesellschaft für Muskelkranke, Freiburg, Germany.
Hanns LochmüllerChildren's Hospital of Eastern Ontario Research Institute, Division of Neurology, Department of Medicine, The Ottawa Hospital and Brain and Mind Research Institute, University of Ottawa, Ottawa, Ontario, Canada.ORCID 0000-0003-2324-8001 Ulrike Schara-SchmidtDepartment of Neuropediatrics and Neuromuscular Centre for Children and Adolescents, Center for Translational Neuro- and Behavioral Sciences, University of Duisburg-Essen, Essen, Germany.ORCID 0000-0001-5833-2751 Maggie C WalterFriedrich-Baur-Institute, Department of Neurology, Ludwig-Maximilians-University of Munich, Munich, Germany.ORCID 0000-0002-7611-4827 Janbernd KirschnerDepartment of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.ORCID 0000-0003-1618-7386 Brunhilde WirthInstitute of Human Genetics, Center for Molecular Medicine, and Center for Rare Diseases and Institute for Genetics, University Hospital of Cologne, University of Cologne, Cologne, Germany.ORCID 0000-0003-4051-5191 Astrid PechmannDepartment of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.ORCID 0000-0001-9579-2343 Marcus DeschauerDepartment of Neurology, Klinikum rechts der Isar, Technical University of Munich, School of Medicine and Health, Munich, Germany.ORCID 0000-0001-6116-6790 with SMArtCARE study group
Funding
No grant is acknowledged in the PubMed record.
6 · The paper itselfAbstract
Background and objectivesThe severity of the phenotype of spinal muscular atrophy (SMA) is highly variable, yet little is known about the phenotypic variation among siblings. We systematically investigated the phenotypic variability of therapy-naïve 5q-SMA siblings leveraging a large multicentre cohort from the SMArtCARE registry.ResultsClinical information was available from 132 siblings of 65 families. There were 24 (18.2%) type 1, 38 (28.7%) type 2, 54 (40.9%) type 3 patients, and 16 (12.1%) presymptomatic individuals. In 17 families (32.1%), there was discordance in the type of SMA among symptomatic siblings. We found no influence of gender on discordance in SMA type among siblings (p = 0.528). The median age at disease onset within all sibships varied by 6 months (interquartile range (IQR) = 1-30). There was no correlation in age of onset among siblings (r = 0.405; p = 0.052). Among siblings who lost ambulation, the median interval between the start of wheelchair use was 12 months, but the maximal interval was 18 years. In one pair of siblings, one sibling lost the ability to walk at the age of 13, whereas the other sibling was still ambulatory at the age of 54. In 6 sibling pairs (9.5%), only one of both siblings had a history of scoliosis surgery. Analysing
Indexed as
Muscular Atrophy, SpinalSiblingsAdolescentAdultAge of OnsetChildChild, PreschoolChromosomes, Human, Pair 5FemaleHumansInfantMalePhenotypeage of onsetintrafamilial variabilitysiblingsSMASMN2Spinal muscular atrophy
Identifiers
PMID40938628
PMCPMC13434961
What OpenQuestion holds
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