المؤلفون: Ahmad N; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Fazeli W; Department of Pediatric Neurology, University Hospital Bonn, Bonn, Germany., Schließke S; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Lesca G; Department of Medical Genetics, Lyon University Hospital, University of Lyon, UCB1, Lyon, France., Gokce-Samar Z; Department of Epileptology, Lyon University Hospital, Lyon, France., Mekbib KY; Department of Neurosurgery, Yale University School of Medicine, New Haven, Connecticut; Department of Neurosurgery, Massachusetts General Hospital, Boston, Massachusetts., Jin SC; Department of Genetics, Washington University School of Medicine, St. Louis, Missouri., Burton J; University of Illinois College of Medicine, Peoria, Illinois., Hoganson G; University of Illinois College of Medicine, Peoria, Illinois., Petersen A; Department of Genetics and Metabolism, Randall Children's Hospital, Portland, Oregon., Gracie S; Department of Genetics and Metabolism, Randall Children's Hospital, Portland, Oregon., Granger L; Department of Genetics and Metabolism, Randall Children's Hospital, Portland, Oregon., Bartels E; Institute of Clinical Genetics and Tumor Genetics, Bonn, Germany., Oppermann H; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Kundishora A; Department of Neurosurgery, Yale University School of Medicine, New Haven, Connecticut., Till M; Department of Medical Genetics, Lyon University Hospital, University of Lyon, UCB1, Lyon, France., Milleret-Pignot C; Department of Epileptology, Lyon University Hospital, Lyon, France., Dangerfield S; University of Utah, Salt Lake City, Utah., Viskochil D; University of Utah, Salt Lake City, Utah., Anderson KJ; University of Utah, Salt Lake City, Utah; Department of Pediatrics, University of Vermont Medical Center, Burlington, Vermont., Palculict TB; GeneDx, Gaithersburg, Maryland., Schnur RE; GeneDx, Gaithersburg, Maryland., Wentzensen IM; GeneDx, Gaithersburg, Maryland., Tiller GE; Department of Genetics, Kaiser Permanente, Los Angeles, California., Kahle KT; Department of Neurosurgery, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts; Broad Institute of MIT and Harvard, Cambridge, Massachusetts., Kunz WS; Department of Epileptology, University Hospital Bonn, Bonn, Germany., Burkart S; Institute of Human Genetics, University Hospital Heidelberg, Heidelberg, Germany., Simons M; Institute of Human Genetics, University Hospital Heidelberg, Heidelberg, Germany., Sticht H; Institute of Biochemistry, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Abou Jamra R; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Neuser S; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany. Electronic address: sonja.neuser@medizin.uni-leipzig.de.

المصدر: Pediatric neurology [Pediatr Neurol] 2023 Nov; Vol. 148, pp. 164-171. Date of Electronic Publication: 2023 Aug 24.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Science Publishing Country of Publication: United States NLM ID: 8508183 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-5150 (Electronic) Linking ISSN: 08878994 NLM ISO Abbreviation: Pediatr Neurol Subsets: MEDLINE

المؤلفون: Vielhaber S; Klinik für Neurologie II, Bern Universität, Magdeburg, Germany., Feistner H, Schneider W, Weis J, Kunz WS

المصدر: Pediatric neurology [Pediatr Neurol] 2000 Jan; Vol. 22 (1), pp. 53-6.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Elsevier Science Publishing Country of Publication: United States NLM ID: 8508183 Publication Model: Print Cited Medium: Print ISSN: 0887-8994 (Print) Linking ISSN: 08878994 NLM ISO Abbreviation: Pediatr Neurol Subsets: MEDLINE

مواضيع طبية MeSH: Arthrogryposis/*enzymology , Mitochondria/*enzymology , NADH, NADPH Oxidoreductases/*deficiency, Arthrogryposis/pathology ; Biopsy ; Child ; Electron Transport Complex I ; Energy Metabolism ; Female ; Humans ; Muscle, Skeletal/enzymology ; Muscle, Skeletal/pathology