首页> Neurology> Early and lethal neurodegeneration with myasthenic and myopathic features: A new <i>ALG14</i>-CDG.

Early and lethal neurodegeneration with myasthenic and myopathic features: A new <i>ALG14</i>-CDG.

导出 OA

翻译打印收藏纠错

第一作者： David C,Schorling

第一单位： From the Division of Neuropaediatrics and Muscle Disorders (D.C.S., R.K., M. Beytia, J.K.) and Center of Pediatric and Adolescent Medicine (M.K.), Faculty of Medicine, Medical Center, University of Freiburg; Department of Human Genetics (S.R., C.R.M., M. Beytia), Biozentrum, University of Würzburg, Germany; Department of Neurology, Translational Metabolic Laboratory, Donders Institute for Brain, Cognition and Behavior (D.J.L.), and Radboud Center for Mitochondrial Medicine, Department of Pediatrics (R.J.R.), Radboud University Medical Center, Nijmegen, the Netherlands; Department of Pediatrics (Neuromuscular and Neurometabolic Disorders) (L.B., M.T.), McMaster Children's Hospital, Hamilton, Canada; Neuromuscular and Neurogenetic Disorders of Childhood Section (C.G.B.), National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD; Departments of Child Neurology (M. Bugiani, M.v.d.K.) and Pathology (M. Bugiani), VU University Medical Center; and Department of Functional Genomics (M.v.d.K.), VU University, Amsterdam Neuroscience, Amsterdam, the Netherlands.

作者： David C,Schorling ^[1] ; Simone,Rost ^[1] ; Dirk J,Lefeber ^[1] ; Lauren,Brady ^[1] ; Clemens R,Müller ^[1] ; Rudolf,Korinthenberg ^[1] ; Mark,Tarnopolsky ^[1] ; Carsten G,Bönnemann ^[1] ; Richard J,Rodenburg ^[1] ; Marianna,Bugiani ^[1] ; Maria,Beytia ^[1] ; Marcus,Krüger ^[1] ; Marjo,van der Knaap ^[1] ; Jan,Kirschner ^[2]

作者单位： From the Division of Neuropaediatrics and Muscle Disorders (D.C.S., R.K., M. Beytia, J.K.) and Center of Pediatric and Adolescent Medicine (M.K.), Faculty of Medicine, Medical Center, University of Freiburg; Department of Human Genetics (S.R., C.R.M., M. Beytia), Biozentrum, University of Würzburg, Germany; Department of Neurology, Translational Metabolic Laboratory, Donders Institute for Brain, Cognition and Behavior (D.J.L.), and Radboud Center for Mitochondrial Medicine, Department of Pediatrics (R.J.R.), Radboud University Medical Center, Nijmegen, the Netherlands; Department of Pediatrics (Neuromuscular and Neurometabolic Disorders) (L.B., M.T.), McMaster Children's Hospital, Hamilton, Canada; Neuromuscular and Neurogenetic Disorders of Childhood Section (C.G.B.), National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD; Departments of Child Neurology (M. Bugiani, M.v.d.K.) and Pathology (M. Bugiani), VU University Medical Center; and Department of Functional Genomics (M.v.d.K.), VU University, Amsterdam Neuroscience, Amsterdam, the Netherlands. ^[1] From the Division of Neuropaediatrics and Muscle Disorders (D.C.S., R.K., M. Beytia, J.K.) and Center of Pediatric and Adolescent Medicine (M.K.), Faculty of Medicine, Medical Center, University of Freiburg; Department of Human Genetics (S.R., C.R.M., M. Beytia), Biozentrum, University of Würzburg, Germany; Department of Neurology, Translational Metabolic Laboratory, Donders Institute for Brain, Cognition and Behavior (D.J.L.), and Radboud Center for Mitochondrial Medicine, Department of Pediatrics (R.J.R.), Radboud University Medical Center, Nijmegen, the Netherlands; Department of Pediatrics (Neuromuscular and Neurometabolic Disorders) (L.B., M.T.), McMaster Children's Hospital, Hamilton, Canada; Neuromuscular and Neurogenetic Disorders of Childhood Section (C.G.B.), National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD; Departments of Child Neurology (M. Bugiani, M.v.d.K.) and Pathology (M. Bugiani), VU University Medical Center; and Department of Functional Genomics (M.v.d.K.), VU University, Amsterdam Neuroscience, Amsterdam, the Netherlands. Janbernd.Kirschner@uniklinik-freiburg.de. ^[2]