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Assessment of the reliability, responsiveness, and meaningfulness of the scale for the assessment and rating of ataxia (SARA) for lysosomal storage disorders.

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作者单位: Department of General Paediatrics, University of Münster, 48149, Münster, Germany. Julien.Park@ukmuenster.de. [1] Department of Neurology, University Hospital Bern (Inselspital), Bern, Switzerland. [2] Department of Paediatric Metabolic Disease, Amsterdam University Medical Center, Amsterdam, Netherlands. [3] Department of Pediatric Neurology, National Institute of Children's Diseases, Comenius University in Bratislava, Bratislava, Slovak Republic. [4] Division of Paediatric Endocrinology, Diabetology and Metabolism, Department of Paediatrics, and Institute of Clinical Chemistry, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland. [5] NIHR Great Ormond Street Hospital Biomedical Research Centre, University College London, London, UK. [6] Department of Child Neurology, Justus Liebig University, Giessen, Germany. [7] Willink Unit, Manchester Centre for Genomic Medicine, Royal Manchester Children's Hospital, University of Manchester, Manchester, UK. [8] SphinCS-Institute of Clinical Science in Lysosomal Storage Disorders, Hochheim, Germany. [9] Departments of Neurology, Pediatrics and Clinical Genomics, Mayo Clinic Children's Center, Rochester, MN, USA. [10] Department of Neurology, University of California, Los Angeles, CA, USA. [11] Lysosomal Storage Disorder Unit, Royal Free London NHS Foundation Trust, London, UK. [12] Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic. [13] Division of Metabolism, University Children's Hospital and Children's Research Centre, Zurich, Switzerland. [14] Department of Neurology, Ludwig Maximilians University, Munich, Germany. [15] Department of Neurology, Case Western Reserve University School of Medicine, Cleveland, OH, USA. [16] Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany. [17] Department of Neuropsychiatry, The Royal Melbourne Hospital, Melbourne, VIC, Australia. [18] Department of Child Neurology, Justus Liebig University, Giessen, Germany.;Department of Pediatrics, Medical Faculty and University Hospital, University of Cologne, Cologne, Germany. [19] Unité Des Ataxies Cérébelleuses, Service de Neurologie, Médiathèque Jean Jacquy, CHU-Charleroi, 6000, Charleroi, Belgium. [20]
DOI 10.1007/s00415-024-12664-y
PMID 39225743
发布时间 2024-11-19
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