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Phenotypic intrafamilial variability of 5q-associated spinal muscular atrophy: A systematic multicentre sibling study.

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Title: Phenotypic intrafamilial variability of 5q-associated spinal muscular atrophy: A systematic multicentre sibling study.
Authors: Becker B; Department of Neurology, Klinikum rechts der Isar, Technical University of Munich, School of Medicine and Health, Munich, Germany., Cordts I; Department of Neurology, Klinikum rechts der Isar, Technical University of Munich, School of Medicine and Health, Munich, Germany., Becker J; Institute 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., Günther R; Department of Neurology, University Hospital Carl Gustav Carus, Technical University of Dresden, Dresden, Germany., Baumann M; Department of Pediatrics I, Division of Pediatric Neurology, Medical University of Innsbruck, Innsbruck, Austria., Bernert G; Department of Pediatrics, Clinic Favoriten, Vienna, Austria., Eisenkölbl A; Department of Paediatrics and Adolescent Medicine, Johannes Kepler University Linz, Kepler University Hospital, Linz, Austria., Fiedler B; Department of Neuropediatrics, University Children's Hospital, Münster, Germany., Flotats-Bastardas M; Department of General Pediatrics and Neonatology, Division of Neuropediatrics, Saarland University, Homburg Saar, Germany., Fleger M; Department of Pediatrics, Bregenz Regional Hospital, Bregenz, Austria., Hagenacker T; Department of Neurology, and Center for Translational Neuro- and Behavioral Sciences (C-TNBS), University Medicine Essen, Essen, Germany., Hahn A; Department of Child Neurology, Justus-Liebig University, Giessen, Germany., Hobbiebrunken E; Department of Pediatrics and Adolescent Medicine, Division of Pediatric Neurology, University Medical Center Göttingen, Georg August University, Göttingen, Germany., Bevot A; Department of Paediatric Neurology, University Children's Hospital, Tübingen, Germany., Jahnel J; Division of General Pediatrics, Department of Pediatrics and Adolescent Medicine, LKH Klagenfurt, Medical University of Graz, Graz, Austria., Johannsen J; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Kamm C; Department of Neurology, University of Rostock, Rostock, Germany., Koch JC; Department of Neurology, University Medical Center Göttingen, Göttingen, Germany., Köhler C; Ruhr University Bochum, St Josef-Hospital, Department for Neuropediatrics, University Medical Center for Pediatrics and Adolescent Medicine, Bochum, Germany., Kölbel H; Department of Neuropediatrics and Neuromuscular Centre for Children and Adolescents, Center for Translational Neuro- and Behavioral Sciences, University of Duisburg-Essen, Essen, Germany., Müller-Felber W; Department of Neuropediatrics, UMC, LMU Munich, Munich, Germany., Neuwirth C; Neuromuscular Diseases Unit / ALS Clinic, Cantonal Hospital St Gallen, St. Gallen, Switzerland., Plecko B; Department of Pediatrics and Adolescent Medicine, Division of General Pediatrics, Medical University of Graz, Graz, Austria., Stadler C; Department of Neurology, Klinikum Klagenfurt am Wörthersee, Klagenfurt am Wörthersee, Austria., Smitka M; Department of Neuropediatrics, UMC Carl Gustav Carus, Technical University of Dresden, Dresden, Germany., Von Moers A; Department of Pediatrics and Neuropediatrics, DRK Klinikum Westend, Berlin, Germany., Trollmann R; Department of Pediatrics, Division of Pediatric Neurology, Friedrich-Alexander-University of Erlangen-Nürnberg, Erlangen, Germany., Weiler M; Department of Neurology, Heidelberg University Hospital, Heidelberg, Germany., Ziegler A; Department of Neuropediatrics and Metabolic Medicine, University Hospital Heidelberg, Heidelberg, Germany., Goldbach S; Deutsche Gesellschaft für Muskelkranke, Freiburg, Germany., Probst-Schendzielorz K; Deutsche Gesellschaft für Muskelkranke, Freiburg, Germany., Lochmüller H; Children'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.; Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Schara-Schmidt U; Department of Neuropediatrics and Neuromuscular Centre for Children and Adolescents, Center for Translational Neuro- and Behavioral Sciences, University of Duisburg-Essen, Essen, Germany., Walter MC; Friedrich-Baur-Institute, Department of Neurology, Ludwig-Maximilians-University of Munich, Munich, Germany., Kirschner J; Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Wirth B; Institute 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., Pechmann A; Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Deschauer M; Department of Neurology, Klinikum rechts der Isar, Technical University of Munich, School of Medicine and Health, Munich, Germany.
Corporate Authors: with SMArtCARE study group
Source: Journal of neuromuscular diseases [J Neuromuscul Dis] 2026 Jul; Vol. 13 (4), pp. 665-676. Date of Electronic Publication: 2025 Sep 12.
Publication Type: Journal Article; Multicenter Study
Journal Info: Publisher: IOS Press Country of Publication: United States NLM ID: 101649948 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2214-3602 (Electronic) Linking ISSN: 22143599 NLM ISO Abbreviation: J Neuromuscul Dis Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Phenotypic intrafamilial variability of 5q-associated spinal muscular atrophy: A systematic multicentre sibling study.
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  Data: <searchLink fieldCode="AU" term="%22Becker+B%22">Becker B</searchLink>; Department of Neurology, Klinikum rechts der Isar, Technical University of Munich, School of Medicine and Health, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Cordts+I%22">Cordts I</searchLink>; Department of Neurology, Klinikum rechts der Isar, Technical University of Munich, School of Medicine and Health, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Becker+J%22">Becker J</searchLink>; Institute 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.<br /><searchLink fieldCode="AU" term="%22Günther+R%22">Günther R</searchLink>; Department of Neurology, University Hospital Carl Gustav Carus, Technical University of Dresden, Dresden, Germany.<br /><searchLink fieldCode="AU" term="%22Baumann+M%22">Baumann M</searchLink>; Department of Pediatrics I, Division of Pediatric Neurology, Medical University of Innsbruck, Innsbruck, Austria.<br /><searchLink fieldCode="AU" term="%22Bernert+G%22">Bernert G</searchLink>; Department of Pediatrics, Clinic Favoriten, Vienna, Austria.<br /><searchLink fieldCode="AU" term="%22Eisenkölbl+A%22">Eisenkölbl A</searchLink>; Department of Paediatrics and Adolescent Medicine, Johannes Kepler University Linz, Kepler University Hospital, Linz, Austria.<br /><searchLink fieldCode="AU" term="%22Fiedler+B%22">Fiedler B</searchLink>; Department of Neuropediatrics, University Children's Hospital, Münster, Germany.<br /><searchLink fieldCode="AU" term="%22Flotats-Bastardas+M%22">Flotats-Bastardas M</searchLink>; Department of General Pediatrics and Neonatology, Division of Neuropediatrics, Saarland University, Homburg Saar, Germany.<br /><searchLink fieldCode="AU" term="%22Fleger+M%22">Fleger M</searchLink>; Department of Pediatrics, Bregenz Regional Hospital, Bregenz, Austria.<br /><searchLink fieldCode="AU" term="%22Hagenacker+T%22">Hagenacker T</searchLink>; Department of Neurology, and Center for Translational Neuro- and Behavioral Sciences (C-TNBS), University Medicine Essen, Essen, Germany.<br /><searchLink fieldCode="AU" term="%22Hahn+A%22">Hahn A</searchLink>; Department of Child Neurology, Justus-Liebig University, Giessen, Germany.<br /><searchLink fieldCode="AU" term="%22Hobbiebrunken+E%22">Hobbiebrunken E</searchLink>; Department of Pediatrics and Adolescent Medicine, Division of Pediatric Neurology, University Medical Center Göttingen, Georg August University, Göttingen, Germany.<br /><searchLink fieldCode="AU" term="%22Bevot+A%22">Bevot A</searchLink>; Department of Paediatric Neurology, University Children's Hospital, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Jahnel+J%22">Jahnel J</searchLink>; Division of General Pediatrics, Department of Pediatrics and Adolescent Medicine, LKH Klagenfurt, Medical University of Graz, Graz, Austria.<br /><searchLink fieldCode="AU" term="%22Johannsen+J%22">Johannsen J</searchLink>; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Kamm+C%22">Kamm C</searchLink>; Department of Neurology, University of Rostock, Rostock, Germany.<br /><searchLink fieldCode="AU" term="%22Koch+JC%22">Koch JC</searchLink>; Department of Neurology, University Medical Center Göttingen, Göttingen, Germany.<br /><searchLink fieldCode="AU" term="%22Köhler+C%22">Köhler C</searchLink>; Ruhr University Bochum, St Josef-Hospital, Department for Neuropediatrics, University Medical Center for Pediatrics and Adolescent Medicine, Bochum, Germany.<br /><searchLink fieldCode="AU" term="%22Kölbel+H%22">Kölbel H</searchLink>; Department of Neuropediatrics and Neuromuscular Centre for Children and Adolescents, Center for Translational Neuro- and Behavioral Sciences, University of Duisburg-Essen, Essen, Germany.<br /><searchLink fieldCode="AU" term="%22Müller-Felber+W%22">Müller-Felber W</searchLink>; Department of Neuropediatrics, UMC, LMU Munich, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Neuwirth+C%22">Neuwirth C</searchLink>; Neuromuscular Diseases Unit / ALS Clinic, Cantonal Hospital St Gallen, St. Gallen, Switzerland.<br /><searchLink fieldCode="AU" term="%22Plecko+B%22">Plecko B</searchLink>; Department of Pediatrics and Adolescent Medicine, Division of General Pediatrics, Medical University of Graz, Graz, Austria.<br /><searchLink fieldCode="AU" term="%22Stadler+C%22">Stadler C</searchLink>; Department of Neurology, Klinikum Klagenfurt am Wörthersee, Klagenfurt am Wörthersee, Austria.<br /><searchLink fieldCode="AU" term="%22Smitka+M%22">Smitka M</searchLink>; Department of Neuropediatrics, UMC Carl Gustav Carus, Technical University of Dresden, Dresden, Germany.<br /><searchLink fieldCode="AU" term="%22Von+Moers+A%22">Von Moers A</searchLink>; Department of Pediatrics and Neuropediatrics, DRK Klinikum Westend, Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Trollmann+R%22">Trollmann R</searchLink>; Department of Pediatrics, Division of Pediatric Neurology, Friedrich-Alexander-University of Erlangen-Nürnberg, Erlangen, Germany.<br /><searchLink fieldCode="AU" term="%22Weiler+M%22">Weiler M</searchLink>; Department of Neurology, Heidelberg University Hospital, Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Ziegler+A%22">Ziegler A</searchLink>; Department of Neuropediatrics and Metabolic Medicine, University Hospital Heidelberg, Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Goldbach+S%22">Goldbach S</searchLink>; Deutsche Gesellschaft für Muskelkranke, Freiburg, Germany.<br /><searchLink fieldCode="AU" term="%22Probst-Schendzielorz+K%22">Probst-Schendzielorz K</searchLink>; Deutsche Gesellschaft für Muskelkranke, Freiburg, Germany.<br /><searchLink fieldCode="AU" term="%22Lochmüller+H%22">Lochmüller H</searchLink>; Children'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.; Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.<br /><searchLink fieldCode="AU" term="%22Schara-Schmidt+U%22">Schara-Schmidt U</searchLink>; Department of Neuropediatrics and Neuromuscular Centre for Children and Adolescents, Center for Translational Neuro- and Behavioral Sciences, University of Duisburg-Essen, Essen, Germany.<br /><searchLink fieldCode="AU" term="%22Walter+MC%22">Walter MC</searchLink>; Friedrich-Baur-Institute, Department of Neurology, Ludwig-Maximilians-University of Munich, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Kirschner+J%22">Kirschner J</searchLink>; Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.<br /><searchLink fieldCode="AU" term="%22Wirth+B%22">Wirth B</searchLink>; Institute 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.<br /><searchLink fieldCode="AU" term="%22Pechmann+A%22">Pechmann A</searchLink>; Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.<br /><searchLink fieldCode="AU" term="%22Deschauer+M%22">Deschauer M</searchLink>; Department of Neurology, Klinikum rechts der Isar, Technical University of Munich, School of Medicine and Health, Munich, Germany.
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