부산대학교 도서관

Niu, Chengwang; Buhl, Patrick M.; Bihlmayer, Gustav; Wortmann, Daniel; Dai, Ying; Blügel, Stefan; Mokrousov, Yuriy

Phys. Rev. B 95, 235138 (2017)

Kahlhofer J; Institute of Molecular Biochemistry, Biocenter, Medical University of Innsbruck, Innsbruck, 6020, Austria.; Institute of Cell Biology, Biocenter, Medical University of Innsbruck, Innsbruck, 6020, Austria.; Marchet N; Institute of Molecular Biochemistry, Biocenter, Medical University of Innsbruck, Innsbruck, 6020, Austria.; Institute of Cell Biology, Biocenter, Medical University of Innsbruck, Innsbruck, 6020, Austria.; Zubak K; Institute of Molecular Biochemistry, Biocenter, Medical University of Innsbruck, Innsbruck, 6020, Austria.; Seifert B; Institute of Cell Biology, Biocenter, Medical University of Innsbruck, Innsbruck, 6020, Austria.; Hotze M; Department of Biochemistry and Center for Molecular Biosciences Innsbruck, University of Innsbruck, Innsbruck, 6020, Austria.; Egger-Hörschinger AS; Department of Biochemistry and Center for Molecular Biosciences Innsbruck, University of Innsbruck, Innsbruck, 6020, Austria.; Kucej L; Institute of Molecular Biochemistry, Biocenter, Medical University of Innsbruck, Innsbruck, 6020, Austria.; Manzl C; Institute of Neuropathology & Neuromolecular Pathology, Medical University of Innsbruck, 6020, Innsbruck, Austria.; Weyer Y; Institute of Molecular Biochemistry, Biocenter, Medical University of Innsbruck, Innsbruck, 6020, Austria.; Institute of Cell Biology, Biocenter, Medical University of Innsbruck, Innsbruck, 6020, Austria.; Weys S; Institute of Cell Biology, Biocenter, Medical University of Innsbruck, Innsbruck, 6020, Austria.; Institute of Science and Technology Austria (ISTA), Klosterneuburg, 3400, Austria.; Offterdinger M; Institute of Systems Neuroscience, BioOptics core facility, Biocenter, Medical University of Innsbruck, Innsbruck, 6020, Austria.; Herzog S; Institute for Developmental Immunology, Biocenter, Medical University of Innsbruck, Innsbruck, 6020, Austria.; Reiterer V; Institute of Pathophysiology, Biocenter, Medical University of Innsbruck, Innsbruck, 6020, Austria.; Volani C; Department of Internal Medicine II, Medical University of Innsbruck, Innsbruck, 6020, Austria.; Kwiatkowski M; Department of Biochemistry and Center for Molecular Biosciences Innsbruck, University of Innsbruck, Innsbruck, 6020, Austria.; Wortmann SB; University Children's Hospital, Salzburger Landeskliniken and Paracelsus Medical University, Salzburg, 5020, Austria.; Amalia Children's Hospital, Department of Pediatrics, Pediatric Neurology, Nijmegen, The Netherlands.; Nemati S; Kinder- und Jugendheilkunde, Krankenhaus St. Vinzenz Zams, Zams, 6511, Austria.; Mayr JA; University Children's Hospital, Salzburger Landeskliniken and Paracelsus Medical University, Salzburg, 5020, Austria.; Zschocke J; Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, 6020, Austria.; Radlinger B; Department of Internal Medicine I, Medical University of Innsbruck, Innsbruck, 6020, Austria.; Thedieck K; Department of Biochemistry and Center for Molecular Biosciences Innsbruck, University of Innsbruck, Innsbruck, 6020, Austria.; Department Metabolism, Senescence and Autophagy, Research Center One Health Ruhr, University Alliance Ruhr & University Hospital Essen, University Duisburg-Essen, Essen, Germany.; German Cancer Consortium (DKTK), partner site Essen, a partnership between German Cancer Research Center (DKFZ) and University Hospital Essen, Heidelberg, Germany.; Freiburg Materials Research Center (FMF), University Freiburg, Freiburg, Germany.; Laboratory of Pediatrics, Section Systems Medicine of Metabolism and Signaling, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.; Kremser L; Institute of Medical Biochemistry, Protein Core Facility, Medical University of Innsbruck, Innsbruck, Austria.; Sarg B; Institute of Medical Biochemistry, Protein Core Facility, Medical University of Innsbruck, Innsbruck, Austria.; Huber LA; Institute of Cell Biology, Biocenter, Medical University of Innsbruck, Innsbruck, 6020, Austria.; Farhan H; Institute of Pathophysiology, Biocenter, Medical University of Innsbruck, Innsbruck, 6020, Austria.; de Araujo MEG; Institute of Cell Biology, Biocenter, Medical University of Innsbruck, Innsbruck, 6020, Austria.; Kaser S; Department of Internal Medicine I, Medical University of Innsbruck, Innsbruck, 6020, Austria.; Scholl-Bürgi S; Department of Child and Adolescent Health, Division of Pediatrics I-Inherited Metabolic Disorders, Medical University of Innsbruck, Innsbruck, 6020, Austria.; Karall D; Department of Child and Adolescent Health, Division of Pediatrics I-Inherited Metabolic Disorders, Medical University of Innsbruck, Innsbruck, 6020, Austria.; Teis D; Institute of Molecular Biochemistry, Biocenter, Medical University of Innsbruck, Innsbruck, 6020, Austria. david.teis@i-med.ac.at.; Institute of Cell Biology, Biocenter, Medical University of Innsbruck, Innsbruck, 6020, Austria. david.teis@i-med.ac.at.

Publisher: Nature Publishing Group Country of Publication: England NLM ID: 8208664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2075 (Electronic) Linking ISSN: 02614189 NLM ISO Abbreviation: EMBO J Subsets: MEDLINE

Wortmann, SB; van, Hasselt PM; Baric, I; Burlina, A; Darin, N; Hoerster, F; Coker, M; Ucar, SK; Krumina, Z; Naess, K

NEUROPEDIATRICS. 46(2):98-103

Wortmann, SB; Vaz, FM; Gardeitchik, T; Vissers, LELM; Renkema, GH; Schuurs-Hoeijmakers, JHM; Kulik, W; Lammens, M; Christin, C; Kluijtmans, LAJ

NATURE GENETICS. 44(7):797-802

Guimier, A; Achleitner, MT; De Bellaing, AM; Edwards, M; De Pontual, L; Mittal, K; Dunn, KE; Grove, ME; Tysoe, CJ; Dimartino, C; Cameron, J; Kanthi, A; Shukla, A; Van den Broek, F; Chatterjee, D; Alston, CL; Knowles, CV; Brett, L; Till, JA; Homfray, T; French, P; Spentzou, G; Elserafy, NA; Lichkus, KS; Sankaran, BP; Kennedy, HL; George, PM; Kidd, A; Wortmann, SB; Fisk, DG; Koopmann, TT; Rafiq, MA; Merker, JD; Parikh, S; Ahimaz, P; Weintraub, RG; Ma, AS; Turner, C; Ellaway, CJ; Phillips, LK; Thorburn, DR; Chung, WK; Kana, SL; Faye-Petersen, OM; Thompson, ML; Janin, A; McLeod, K; McGowan, R; McFarland, R; Girisha, KM; Morris-Rosendahl, DJ; Hurst, ACE; Turner, CLS; Hamilton, RM; Taylor, RW; Bajolle, F; Gordon, CT; Amiel, J; Mayr, JA; Doudney, K

Genet Med
Genetics in Medicine, 23, 12, pp. 2415-2425

Heath O; University Children's Hospital, Paracelsus Medical University (PMU), Salzburg, Austria.; Del Caño-Ochoa F; Structure of Macromolecular Targets Unit, Instituto de Biomedicina de Valencia (IBV), CSIC, Valencia, Spain; Valencia Biomedical Research Foundation, Centro de Investigación Príncipe Felipe (CIPF), Associated Unit to the Instituto de Biomedicina de Valencia (IBV), Valencia, Spain.; Baris S; Marmara University, Division of Pediatric Allergy/Immunology, Istanbul, Turkey.; Carrozzo R; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Coman D; Metabolic Medicine, Queensland Children's Hospital, Brisbane, Australia.; Distelmaier F; Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine University, Duesseldorf, Germany.; Ellaway C; Genetic Metabolic Disorders Service, Sydney Children's Hospital Network, Randwick, Australia.; Feichtinger RG; University Children's Hospital, Paracelsus Medical University (PMU), Salzburg, Austria.; Finocchi A; Research Unit of Primary Immunodeficiencies, Immune and Infectious Diseases Division, Academic Department of Pediatrics (DPUO), Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Guerrero-Castillo S; University Children's Research@Kinder-UKE, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Halligan R; Evelina London Children's Hospital, London, UK.; Hannibal I; Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University, Munich, Germany.; Kritzer A; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Lichter-Konecki U; Children's Hospital of Pittsburgh, Pittsburgh, PA, USA.; Merkevicius K; Clinic of Paediatrics, Institute of Clinical Medicine, Faculty of Medicine, Vilnius University, Vilnius, Lithuania; Institute of Biosciences, Life Sciences Center, Vilnius University, Vilnius, Lithuania.; Panis B; Department of Pediatrics, MosaKids Children's Hospital, Maastricht University Medical Centre, Maastricht, the Netherlands.; Pitceathly RDS; Department of Neuromuscular Diseases, University College London Queen Square Institute of Neurology, London, UK; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK.; Pizzamiglio C; Department of Neuromuscular Diseases, University College London Queen Square Institute of Neurology, London, UK; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK.; Iwanicka-Pronicka K; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.; Rahman S; Mitochondrial Research Group, UCL Great Ormond Street Institute of Child Health, and Metabolic Unit, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Seltzer L; University of Rochester Medical Center, Rochester, NY, USA.; Siepermann M; Department of Paediatric Haematology and Oncology, Children's Hospital Amsterdam Street, Cologne, Germany.; Tal G; Metabolic Unit, Ruth Rappaport Children's Hospital, Rambam Health Care Campus, Haifa, Israel.; Wevers RA; Translational Metabolic Laboratory, Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Ziętkiewicz S; Intercollegiate Faculty of Biotechnology, University of Gdansk, Gdansk, Poland.; Ramón-Maiques S; Structure of Macromolecular Targets Unit, Instituto de Biomedicina de Valencia (IBV), CSIC, Valencia, Spain; Valencia Biomedical Research Foundation, Centro de Investigación Príncipe Felipe (CIPF), Associated Unit to the Instituto de Biomedicina de Valencia (IBV), Valencia, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER)-Instituto de Salud Carlos III, Valencia, Spain.; Mayr JA; University Children's Hospital, Paracelsus Medical University (PMU), Salzburg, Austria.; Wortmann SB; University Children's Hospital, Paracelsus Medical University (PMU), Salzburg, Austria. Electronic address: s.wortmann@salk.at.

Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE

Gasparini G; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany.; Kraus C; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany.; Rusha E; iPSC Core Facility, Helmholtz Zentrum München, Neuherberg, Germany.; Orschmann T; iPSC Core Facility, Helmholtz Zentrum München, Neuherberg, Germany.; Wortmann SB; University Children's Hospital, Paracelsus Medical University, Salzburg, Austria.; Mayr JH; University Children's Hospital, Paracelsus Medical University, Salzburg, Austria.; Ardissone A; Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.; Iuso A; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany. Electronic address: arcangela.iuso@helmholtz-munich.de.

Publisher: Elsevier Country of Publication: England NLM ID: 101316957 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1876-7753 (Electronic) Linking ISSN: 18735061 NLM ISO Abbreviation: Stem Cell Res Subsets: MEDLINE

Himmelreich N; Department I, Medical Faculty Heidelberg, Center for Pediatric and Adolescent Medicine, Heidelberg University, Heidelberg, Germany.; Garbade SF; Department I, Medical Faculty Heidelberg, Center for Pediatric and Adolescent Medicine, Heidelberg University, Heidelberg, Germany.; Okun JG; Department I, Medical Faculty Heidelberg, Center for Pediatric and Adolescent Medicine, Heidelberg University, Heidelberg, Germany.; Hengst S; Department I, Medical Faculty Heidelberg, Center for Pediatric and Adolescent Medicine, Heidelberg University, Heidelberg, Germany.; Geiger V; Department I, Medical Faculty Heidelberg, Center for Pediatric and Adolescent Medicine, Heidelberg University, Heidelberg, Germany.; Barone R; Child Neuropsychiatry Unit, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.; Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy.; Wortmann SB; University Children's Hospital, Paracelsus Medical University (PMU), Salzburg, Austria.; Integriertes Sozialpädiatrisches Zentrum (iSPZ), Munich, Germany.; Thiel C; Department I, Medical Faculty Heidelberg, Center for Pediatric and Adolescent Medicine, Heidelberg University, Heidelberg, Germany.

Publisher: Hippokrates Verlag Country of Publication: Germany NLM ID: 8101187 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1439-1899 (Electronic) Linking ISSN: 0174304X NLM ISO Abbreviation: Neuropediatrics Subsets: MEDLINE

Wortmann SB; University Children's Hospital, Paracelsus Medical University (PMU), Salzburg, Austria.; Borggraefe I; Division of Pediatric Neurology, Department of Pediatrics, Developmental Medicine and Social Pediatrics, Ludwig Maximilian University Munich, University Hospital, Dr. von Hauner Children's Hospital, Munich, Germany.; Comprehensive Epilepsy Center for Children and Adolescents, Ludwig Maximilians University Munich, University Hospital, Munich, Germany.

Publisher: Hippokrates Verlag Country of Publication: Germany NLM ID: 8101187 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1439-1899 (Electronic) Linking ISSN: 0174304X NLM ISO Abbreviation: Neuropediatrics Subsets: MEDLINE; In Process

Zubarovskaya N; St. Anna Children's Hospital, Stem Cell Transplantation Department, Medical University Vienna, Austria.; Mayr JA; University Children's Hospital Salzburg, Paracelsus Medical University, Salzburg, Austria.; Aigner E; Department of Internal Medicine I, Paracelsus Medical University, Salzburg, Austria.; Strebinger G; Department of Internal Medicine I, Paracelsus Medical University, Salzburg, Austria.; Kalkan-Uçar S; Division of Metabolism and Nutrition, Department of Pediatrics, Faculty of Medicine, Ege University, Izmir, Turkey.; Lawitschka A; St. Anna Children's Hospital, Stem Cell Transplantation Department, Medical University Vienna, Austria; St. Anna Children's Cancer Research Institute, Vienna, Austria.; Wortmann SB; University Children's Hospital Salzburg, Paracelsus Medical University, Salzburg, Austria. Electronic address: s.wortmann@salk.at.

Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE

Preisner F; Department of Neuroradiology, Heidelberg University Hospital, Heidelberg, Germany.; Garbade SF; Division of Pediatric Neurology and Metabolic Medicine, Department of Pediatrics I, Heidelberg University Hospital and Heidelberg University, Medical Faculty of Heidelberg, Heidelberg, Germany.; Harting I; Department of Neuroradiology, Heidelberg University Hospital, Heidelberg, Germany.; Wortmann SB; University Children's Hospital, Paracelsus Medical University, Salzburg, Austria.; Mühlhausen C; Department of Paediatrics and Adolescent Medicine, University Medical Centre Göttingen, Georg-August University, Göttingen, Germany.; Heiland S; Department of Neuroradiology, Heidelberg University Hospital, Heidelberg, Germany.; Bendszus M; Department of Neuroradiology, Heidelberg University Hospital, Heidelberg, Germany.; Kölker S; Division of Pediatric Neurology and Metabolic Medicine, Department of Pediatrics I, Heidelberg University Hospital and Heidelberg University, Medical Faculty of Heidelberg, Heidelberg, Germany.; Boy N; Division of Pediatric Neurology and Metabolic Medicine, Department of Pediatrics I, Heidelberg University Hospital and Heidelberg University, Medical Faculty of Heidelberg, Heidelberg, Germany.; Clinic for Child Neurology and Social Pediatrics, Children Centre Maulbronn, Maulbronn, Germany.

Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

Fassad MR; Mitochondrial Research Group, Faculty of Medical Sciences, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.; Human Genetics Department, Medical Research Institute, Alexandria University, Alexandria, Egypt.; Valenzuela S; Department of Medical Biochemistry and Cell Biology, University of Gothenburg, Gothenburg, Sweden.; Oláhová M; Mitochondrial Research Group, Faculty of Medical Sciences, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.; Department of Applied Sciences, Faculty of Health & Life Sciences, Northumbria University, Newcastle upon Tyne, UK.; Collier JJ; Mitochondrial Research Group, Faculty of Medical Sciences, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.; Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montreal, Quebec, Canada.; Knowles CVY; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Mavraki E; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Elbracht M; Center for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany.; Güzel N; Center for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany.; Herberhold T; Centre of Epilepsy for Children and Adolescents, Hospital for Neuropediatrics and Neurological Rehabilitation, Schoen Klinik Vogtareuth, Vogtareuth, Germany.; Kurth I; Center for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany.; Maier A; Medical Treatment Center for Adults With Intellectual Disabilities and/or Severe Multiple Disabilities (MZEB), RWTH Aachen University Hospital, Aachen, Germany.; Mattern L; Center for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany.; Saunders C; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, Missouri, USA.; Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, Missouri, USA.; School of Medicine, University of Missouri Kansas City, Kansas City, Missouri, USA.; McCullagh H; Department of Paediatric Neurology, Leeds Teaching Hospitals NHS Trust, Leeds, UK.; Õunap K; Department of Clinical Genetics, Genetic and Personalized Medicine Clinic, Institute of Clinical Medicine, Tartu University Hospital, University of Tartu, Tartu, Estonia.; Wortmann SB; University Children's Hospital, Paracelsus Medical University (PMU), Salzburg, Austria.; Reis A; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.; Zhang L; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, Missouri, USA.; Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, Missouri, USA.; School of Medicine, University of Missouri Kansas City, Kansas City, Missouri, USA.; Gustafsson CM; Department of Medical Biochemistry and Cell Biology, University of Gothenburg, Gothenburg, Sweden.; Department of Clinical Chemistry, Sahlgrenska University Hospital, Gothenburg, Sweden.; McFarland R; Mitochondrial Research Group, Faculty of Medical Sciences, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Taylor RW; Mitochondrial Research Group, Faculty of Medical Sciences, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.

Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

D'Angelo D; Department of Biomedical Sciences, University of Padua, Padua, Italy.; Sánchez-Vázquez VH; MitoCare Center for Mitochondrial Imaging Research and Diagnostics, Department of Pathology and Genomic Medicine, Thomas Jefferson University, Philadelphia, USA.; Cartes-Saavedra B; MitoCare Center for Mitochondrial Imaging Research and Diagnostics, Department of Pathology and Genomic Medicine, Thomas Jefferson University, Philadelphia, USA.; Vecellio Reane D; Institute for Diabetes and Obesity, Helmholtz Diabetes Center, Helmholtz Zentrum Munich, Munich, Germany.; Cupo RR; Department of Biochemistry and Biophysics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, USA.; Pharmacology Graduate Group, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, USA.; Delgado de la Herran H; Institute for Diabetes and Obesity, Helmholtz Diabetes Center, Helmholtz Zentrum Munich, Munich, Germany.; Ghirardo G; Department of Biomedical Sciences, University of Padua, Padua, Italy.; Shorter J; Department of Biochemistry and Biophysics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, USA.; Pharmacology Graduate Group, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, USA.; Biochemistry and Molecular Biophysics Graduate Group, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, USA.; Wevers RA; Translational Metabolic Laboratory, Department Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands.; Wortmann SB; Department of Paediatrics, University Children's Hospital, Salzburger Landesklinken (SALK) and Paracelsus Medical University, Salzburg, Austria.; Amalia Children's Hospital, Radboudumc, Nijmegen, The Netherlands.; Perocchi F; Institute for Diabetes and Obesity, Helmholtz Diabetes Center, Helmholtz Zentrum Munich, Munich, Germany.; Institute of Neuronal Cell Biology, Technical University of Munich, Munich, Germany.; Munich Cluster for Systems Neurology, Munich, Germany.; Rizzuto R; Department of Biomedical Sciences, University of Padua, Padua, Italy. rosario.rizzuto@unipd.it.; National Center on Gene Therapy and RNA-Based Drugs, Padua, Italy. rosario.rizzuto@unipd.it.; Raffaello A; Department of Biomedical Sciences, University of Padua, Padua, Italy. anna.raffaello@unipd.it.; Myology Center (CIR-Myo), University of Padua, Padua, Italy. anna.raffaello@unipd.it.; Hajnóczky G; MitoCare Center for Mitochondrial Imaging Research and Diagnostics, Department of Pathology and Genomic Medicine, Thomas Jefferson University, Philadelphia, USA. gyorgy.hajnoczky@jefferson.edu.

Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

Kröll-Hermi A; Laboratoire de Génétique Médicale, UMR_S INSERM U1112, Institut de Génétique Médicale d'Alsace (IGMA), Faculté de Médecine, Université de Strasbourg, Strasbourg, France; Karlsruhe Institute of Technology (KIT), Institute of Biological and Chemical System (IBCS), Eggenstein-Leopoldshafen, Germany.; Stoetzel C; Laboratoire de Génétique Médicale, UMR_S INSERM U1112, Institut de Génétique Médicale d'Alsace (IGMA), Faculté de Médecine, Université de Strasbourg, Strasbourg, France.; Etard C; Karlsruhe Institute of Technology (KIT), Institute of Biological and Chemical System (IBCS), Eggenstein-Leopoldshafen, Germany.; Halabelian L; Structural Genomics Consortium, University of Toronto, Toronto, ON M5G 1L7, Canada; Department of Pharmacology and Toxicology, University of Toronto, Toronto, ON, Canada; Princess Margaret Cancer Centre, University Health Network, Toronto, ON, Canada.; Schaefer E; Laboratoire de Génétique Médicale, UMR_S INSERM U1112, Institut de Génétique Médicale d'Alsace (IGMA), Faculté de Médecine, Université de Strasbourg, Strasbourg, France; Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; Scheidecker S; Laboratoire de Génétique Médicale, UMR_S INSERM U1112, Institut de Génétique Médicale d'Alsace (IGMA), Faculté de Médecine, Université de Strasbourg, Strasbourg, France; Laboratoires de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; Kahrizi K; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.; Payman J; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.; Geoffroy V; Laboratoire de Génétique Médicale, UMR_S INSERM U1112, Institut de Génétique Médicale d'Alsace (IGMA), Faculté de Médecine, Université de Strasbourg, Strasbourg, France.; Prasad M; Laboratoire de Génétique Médicale, UMR_S INSERM U1112, Institut de Génétique Médicale d'Alsace (IGMA), Faculté de Médecine, Université de Strasbourg, Strasbourg, France.; Obringer C; Laboratoire de Génétique Médicale, UMR_S INSERM U1112, Institut de Génétique Médicale d'Alsace (IGMA), Faculté de Médecine, Université de Strasbourg, Strasbourg, France.; Ruch L; Laboratoire de Génétique Médicale, UMR_S INSERM U1112, Institut de Génétique Médicale d'Alsace (IGMA), Faculté de Médecine, Université de Strasbourg, Strasbourg, France.; Girard A; Laboratoire de Génétique Médicale, UMR_S INSERM U1112, Institut de Génétique Médicale d'Alsace (IGMA), Faculté de Médecine, Université de Strasbourg, Strasbourg, France.; Zeng H; Structural Genomics Consortium, University of Toronto, Toronto, ON M5G 1L7, Canada.; Li F; Structural Genomics Consortium, University of Toronto, Toronto, ON M5G 1L7, Canada.; Plassard D; Institut de Génétique et de Biologie Moléculaire et Cellulaire, INSERM U1258, CNRS UMR 7104, Université de Strasbourg, Illkirch, France; Plateforme GenomEast, Infrastructure France Génomique, Strasbourg, France.; Keime C; Institut de Génétique et de Biologie Moléculaire et Cellulaire, INSERM U1258, CNRS UMR 7104, Université de Strasbourg, Illkirch, France; Plateforme GenomEast, Infrastructure France Génomique, Strasbourg, France.; Mattioli F; Institut de Génétique et de Biologie Moléculaire et Cellulaire, INSERM U1258, CNRS UMR 7104, Université de Strasbourg, Illkirch, France.; Feger C; Laboratoires de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; Piton A; Laboratoires de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France; Institut de Génétique et de Biologie Moléculaire et Cellulaire, INSERM U1258, CNRS UMR 7104, Université de Strasbourg, Illkirch, France.; Fujita A; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Castro MAA; Unidade de Genetica, Instituto da Crianca, HC FMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Sao Paulo, Brazil.; Ae KC; Unidade de Genetica, Instituto da Crianca, HC FMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Sao Paulo, Brazil.; Ruaud L; Université de Paris, UMR 1141 NEURODIDEROT, INSERM, Département de Génétique, Hôpital Universitaire Robert Debré, APHP Nord, Paris, France.; Levy J; Genetics Department, AP-HP, Robert-Debré University Hospital, Paris, France.; Dozières B; AP-HP, Hôpital Robert Debré, Service de Neurologie Pédiatrique et des Maladies Métaboliques, Paris, France.; Tabet AC; AP-HP, Hôpital Robert Debré, Service de Neurologie Pédiatrique et des Maladies Métaboliques, Paris, France; Neuroscience Department, Génétique Humaine et Fonction Cognitive Unit, Pasteur Institute, Paris, France.; Wentzensen IM; GeneDx Inc., Gaithersburg, MD 20877, USA.; Santiago-Sim T; GeneDx Inc., Gaithersburg, MD 20877, USA.; Yusupov R; Division of Genetics, Joe DiMaggio Children's Hospital, Hollywood, FL, USA.; Tveten K; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway.; Smeland MF; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway.; Alkhunaizi E; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.; Cowing G; McMaster University Medical Center, Hamilton, ON, Canada.; Li C; McMaster University Medical Center, Hamilton, ON, Canada.; Wortmann SB; University Children's Hospital, Paracelsus Medical University (PMU), Salzburg, Austria; Radboud Center for Mitochondrial Medicine, Department of Pediatrics, Amalia Children's Hospital, Radboud UMC, Nijmegen, the Netherlands.; Feichtinger RG; University Children's Hospital, Paracelsus Medical University (PMU), Salzburg, Austria.; Mayr JA; University Children's Hospital, Paracelsus Medical University (PMU), Salzburg, Austria.; Gonorazky H; Division of Neurology, The Hospital for Sick Children, Toronto, ON, Canada.; Jing G; Department of Pediatric Neurology, West China Second University Hospital, Sichuan University, Chengdu, China.; Wang X; Cipher Gene Ltd., Beijing, China.; Wang J; Cipher Gene Ltd., Beijing, China.; Bierhals T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Grinstein L; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Herget T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Ruiz A; Genetics Laboratory, Center for Genomic Medicine, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí (I3PT-CERCA), Universitat Autònoma de Barcelona, Sabadell, Spain.; Gabau E; Paediatric Unit, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí I3PT, Universitat Autònoma de Barcelona, Sabadell, Spain.; Kampmeier A; Institute of Human Genetics, University Medical Center Essen, University of Duisburg-Essen, Essen, Germany.; Kassel O; Karlsruhe Institute of Technology (KIT), Institute of Biological and Chemical System (IBCS), Eggenstein-Leopoldshafen, Germany.; Kuechler A; Institute of Human Genetics, University Medical Center Essen, University of Duisburg-Essen, Essen, Germany.; Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Jamra RA; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Woerner A; Division of Genetic and Genomic Medicine, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, USA.; Idleburg M; Division of Genetic and Genomic Medicine, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, USA.; Kircher SG; Institute of Medical Genetics, Center of Pathobiochemistry and Genetics, Medical University of Vienna, Vienna, Austria.; Laccone F; Institute of Medical Genetics, Center of Pathobiochemistry and Genetics, Medical University of Vienna, Vienna, Austria.; Golob B; Clinical Institute for Genomic Medicine, University Medical Center Ljubljana, Ljubljana, Slovenia.; Peterlin B; Clinical Institute for Genomic Medicine, University Medical Center Ljubljana, Ljubljana, Slovenia.; Čuturilo G; University Children's Hospital Belgrade, Belgrade, Serbia; Faculty of Medicine, University of Belgrade, Belgrade, Serbia.; Tasic V; University Children's Hospital, Medical Faculty of Skopje, Skopje, Macedonia.; Kolvenbach CM; Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Hildebrandt F; Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Ramos LLP; Neurogenetics Unit, Department of Neurology, University of Sao Paulo, Sao Paulo 01308-000, Brazil; Mendelics Genomic Analysis, Sao Paulo, Sao Paulo 04013-000, Brazil.; Kok F; Neurogenetics Unit, Department of Neurology, University of Sao Paulo, Sao Paulo 01308-000, Brazil; Mendelics Genomic Analysis, Sao Paulo, Sao Paulo 04013-000, Brazil.; Buck CB; School of Medicine, Anhembi Morumbi University, Piracicaba, Sao Paulo 13425-380, Brazil.; van de Laar IMBH; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, the Netherlands.; de Man SA; Department of Pediatrics, Amphia Hospital, Breda, the Netherlands.; Taşdelen E; Department of Medical Genetics, Ankara Etlik City Hospital, Ankara, Türkiye.; Sezer A; Department of Medical Genetics, Ankara Etlik City Hospital, Ankara, Türkiye.; Büke A; Department of Medical Genetics, Ankara Etlik City Hospital, Ankara, Türkiye.; Yavuz Z; Department of Neurology, Ankara Etlik City Hospital, Ankara, Türkiye.; Çomoğlu SS; Department of Neurology, Ankara Etlik City Hospital, Ankara, Türkiye.; Costin C; Genetic Center, Akron Children's Hospital, Akron, OH, USA.; Tran Mau Them F; Unité Fonctionnelle Innovation en Diagnostic Génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France; INSERM UMR1231 GAD, 21000 Dijon, France.; Lacaze E; Department of Medical Genetics, Le Havre Hospital, Le Havre, France.; Courtin T; AP-HP, Département de Génétique, Centre de Référence Maladies Rares 'Anomalies du développement et syndromes malformatifs', Hôpital de la Pitié Salpêtrière, Paris, France.; Héron D; AP-HP, Département de Génétique, Centre de Référence Maladies Rares 'Anomalies du développement et syndromes malformatifs', Hôpital de la Pitié Salpêtrière, Paris, France.; Keren B; AP-HP, Département de Génétique, Centre de Référence Maladies Rares 'Anomalies du développement et syndromes malformatifs', Hôpital de la Pitié Salpêtrière, Paris, France.; Whalen S; AP-HP, Département de Génétique, Centre de Référence Maladies Rares 'Anomalies du développement et syndromes malformatifs', Hôpital de la Pitié Salpêtrière, Paris, France.; Roume J; Department of Clinical Genetics, Centre de Référence 'AnDDI Rares', Poissy Hospital GHU PIFO, Poissy, France.; Yang Y; Department of Cancer Genetics and Epigenetics, Beckman Research Institute, City of Hope Cancer Center, Duarte, CA, USA.; Hoffer MJV; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.; van Haeringen A; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.; Najmabadi H; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.; Arrowsmith CH; Structural Genomics Consortium, University of Toronto, Toronto, ON M5G 1L7, Canada; Princess Margaret Cancer Centre and Department of Medical Biophysics, University of Toronto, Toronto, ON M5G 2M9, Canada.; Strähle U; Karlsruhe Institute of Technology (KIT), Institute of Biological and Chemical System (IBCS), Eggenstein-Leopoldshafen, Germany; Centre for Organismal Studies (COS), University of Heidelberg, Im Neuenheimer Feld 223, 69120 Heidelberg, Germany.; Dollfus H; Laboratoire de Génétique Médicale, UMR_S INSERM U1112, Institut de Génétique Médicale d'Alsace (IGMA), Faculté de Médecine, Université de Strasbourg, Strasbourg, France; Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France; Centre de Référence pour les affections rares en génétique ophtalmologique (CARGO), Filière SENSGENE, Hôpitaux Universitaires de Strasbourg, Strasbourg, France. Electronic address: dollfus@unistra.fr.; Muller J; Laboratoire de Génétique Médicale, UMR_S INSERM U1112, Institut de Génétique Médicale d'Alsace (IGMA), Faculté de Médecine, Université de Strasbourg, Strasbourg, France; Princess Margaret Cancer Centre, University Health Network, Toronto, ON, Canada; Unité Fonctionnelle de Bioinformatique Médicale appliquée au diagnostic (UF7363), Hôpitaux Universitaires de Strasbourg, Strasbourg, France. Electronic address: jeanmuller@unistra.fr.

Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

Ebner S; Institute of Human Genetics, Paracelsus Medical University, University Hospital Salzburg, Salzburg, Austria.; Merkevicius K; Clinic of Paediatrics, Institute of Clinical Medicine, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.; Institute of Biosciences, Life Sciences Center, Vilnius University, Vilnius, Lithuania.; Schnell B; Private Practice, Sankt Johann im Pongau, Pongau, Austria.; Stern E; University Children's Hospital, Paracelsus Medical University (PMU), Salzburg, Austria.; Institut für Klinische Psychologie der UK für Psychiatrie, Psychotherapie und Psychosomatik der PMU, Salzburg, Austria.; Mayr JA; University Children's Hospital, Paracelsus Medical University (PMU), Salzburg, Austria.; Hofbauer P; Department of Production, Landesapotheke Salzburg, Hospital Pharmacy, Salzburg, Austria.; Wortmann SB; University Children's Hospital, Paracelsus Medical University (PMU), Salzburg, Austria.

Publisher: Hippokrates Verlag Country of Publication: Germany NLM ID: 8101187 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1439-1899 (Electronic) Linking ISSN: 0174304X NLM ISO Abbreviation: Neuropediatrics Subsets: MEDLINE

Merkevicius K; University Children's Hospital, Expertise Centre for Mitochondrial diseases (Mitohaus), Paracelsus Medical University (PMU) Salzburg, 5020 Salzburg, Austria.; Clinic of Paediatrics, Institute of Clinical Medicine, Faculty of Medicine, Vilnius University, 03101 Vilnius, Lithuania.; Institute of Biosciences, Life Sciences Center, Vilnius University, 10257 Vilnius, Lithuania.; Smirnov D; School of Medicine, Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, 81675 Munich, Germany.; Institute of Neurogenomics, Computational Health Centre, Helmholtz Zentrum München, 85764 Neuherberg, Germany.; Schlieben LD; School of Medicine, Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, 81675 Munich, Germany.; Institute of Neurogenomics, Computational Health Centre, Helmholtz Zentrum München, 85764 Neuherberg, Germany.; Ganetzky R; Department of Pediatrics, Division of Human Genetics, Mitochondrial Medicine Frontier Program, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA.; Center for Computational Genomic Medicine, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Feichtinger RG; University Children's Hospital, Expertise Centre for Mitochondrial diseases (Mitohaus), Paracelsus Medical University (PMU) Salzburg, 5020 Salzburg, Austria.; Jiang H; Department of Pediatrics, Weifang Maternal and Children Health Hospital, 261000 Weifang, China.; Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, 100005 Beijing, China.; Fang F; Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, 100005 Beijing, China.; Ebihara T; Institute of Neurogenomics, Computational Health Centre, Helmholtz Zentrum München, 85764 Neuherberg, Germany.; Murayama K; Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo, 113-842, Japan.; Department of Metabolism, Chiba Children's Hospital, Chiba City, 266-0007, Japan.; Ferrera G; Department of Pediatric Neurosciences, Child Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.; Ardissone A; Department of Pediatric Neurosciences, Child Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.; Rokicki D; Department of Paediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, 04-730 Warsaw, Poland.; Wesol-Kucharska D; Department of Paediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, 04-730 Warsaw, Poland.; Schröder S; CENTOGENE GmbH, 18055 Rostock, Germany.; Bauer P; CENTOGENE GmbH, 18055 Rostock, Germany.; Department of Medicine, Clinic III, Hematology, Oncology, Palliative Medicine, University of Rostock, 18051 Rostock, Germany.; Pomeranian Medical University, 70-204 Szczecin, Poland.; Bertoli-Avella A; CENTOGENE GmbH, 18055 Rostock, Germany.; Østergaard E; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, 2100 Copenhagen, Denmark.; Department of Clinical Medicine, University of Copenhagen, 2200 Copenhagen, Denmark.; Freisinger P; Klinikum am Steinenberg, Children's Hospital Reutlingen, 72764 Reutlingen, Germany.; Janssen MCH; Department of Pediatrics and Internal Medicine, Radboudumc Amalia Childrens Hospital, Radboud Center for Mitochondrial Medicine, 6525 Nijmegen, The Netherlands.; Wagner M; School of Medicine, Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, 81675 Munich, Germany.; Institute of Neurogenomics, Computational Health Centre, Helmholtz Zentrum München, 85764 Neuherberg, Germany.; Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Ludwig-Maximilian University (LMU) Munich, 80337 Munich, Germany.; Abouyousef O; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, 11211 Riyadh, Saudi Arabia.; Alhaddad B; School of Medicine, Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, 81675 Munich, Germany.; Institute of Neurogenomics, Computational Health Centre, Helmholtz Zentrum München, 85764 Neuherberg, Germany.; Lifera Omics, 11452 Riyadh, Saudi Arabia.; AlAbdi L; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, 11211 Riyadh, Saudi Arabia.; Alkuraya F; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, 11211 Riyadh, Saudi Arabia.; Alston CL; Mitochondrial Research Group, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE1 4LP, UK.; Baghdasaryan A; Division of General Pediatrics, Department of Pediatrics and Adolescent Medicine, Medical University of Graz, 8010 Graz, Austria.; Barca D; Pediatric Neurology Department, Carol Davila University of Medicine and Pharmacy, Alexandru Obregia Clinical Hospital, 050474 Bucharest, Romania.; Barić I; Department of Pediatrics, University Hospital Centre, Zagreb and University of Zagreb, School of Medicine, 10000 Zagreb, Croatia.; Bellusci M; Centro de Referencia Nacional (CSUR) y Europeo (MetabERN) en Enfermedades Metabólicas, Hospital Universitario 12 de Octubre, Instituto de Investigación i+12, CIBERER, 28041 Madrid, Spain.; Bevot A; Neuropediatrics, General Pediatrics, Diabetology, Endocrinology and Social Pediatrics, University of Tuebingen, University Hospital Tübingen, 72016 Tübingen, Germany.; Boltshauser E; Department of Neuropediatrics, University Children's Hospital Zurich, 8008 Zurich, Switzerland.; Borggraefe I; Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Ludwig-Maximilian University (LMU) Munich, 80337 Munich, Germany.; Bouchereau J; Reference center for Inherited Metabolic Diseases and reference center for mitochondrial disorders (CARAMMEL), Hopital Necker-Enfants Malades, AP-HP, University Paris Cité, 75015 Paris, France.; Bruno C; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16132 Genoa, Italy.; Paediatric Neurology and Muscle Disease Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.; Burnyte B; Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, 03101 Vilnius, Lithuania.; Calhoun A; Division of Medical Genetics and Genomics, Stead Family Department of Pediatrics, University of Iowa, Iowa City, 52242 Iowa, USA.; Casas K; Sanford Health, Medical Genetics, Fargo, 58103 North Dakota, USA.; Coker M; Division of Metabolism and Nutrition, Department of Pediatrics, Faculty of Medicine, Ege University, 35100 Izmir, Turkey.; Crushell E; National Centre for Inherited Metabolic Disorders, Children's Health Ireland, Dublin 1, D01 XD99, Dublin, Ireland.; De Lonlay P; Reference Center for Inherited Metabolic Diseases, Hopital Necker Enfants Malades, Institut Imagine, INEM, AP-HP, University Paris Descartes, 75015 Paris, France.; Dionisi-Vici C; Division of Metabolic Diseases and Hepatology, Bambino Gesù Children's Hospital, IRCCS, 00165, Rome, Italy.; Distelmaier F; Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Medical Faculty, Heinrich-Heine-University, 40225 Düsseldorf, Germany.; Falk MJ; Department of Pediatrics, Division of Human Genetics, Mitochondrial Medicine Frontier Program, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA.; Ferreira AC; Reference Center of Inherited Metabolic Disease, Unidade Local de Saúde de São José, Lisbon Clinical Academic Center, 1169-045 Lisboa, Portugal.; Ferreira CR; Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.; Ficicioglu C; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA.; Section of Metabolic Disease, The Children's Hospital of Philadelphia, Philadelphia, 19104, PA, USA.; Fatma Gokçay G; Division of Nutrition and Metabolism, Istanbul Medical Faculty Children's Hospital, Istanbul University, 34390 Istanbul, Turkey.; Häberle J; Division of Metabolism & Children's Research Center, University Children's Hospital, 8032 Zürich, Switzerland.; Heath O; University Children's Hospital, Expertise Centre for Mitochondrial diseases (Mitohaus), Paracelsus Medical University (PMU) Salzburg, 5020 Salzburg, Austria.; Hellenschmidt A; Department for Pediatrics, Klinikum Karlsruhe, 76133 Karlsruhe, Germany.; Hoefele J; Institute of Human Genetics, TUM School of Medicine and Health, Technical University of Munich, 81675 Munich, Germany.; Institute of Human Genetics, University Hospital, Ludwig-Maximilians University, 80336 Munich, Germany.; Hoffmann GF; Heidelberg University, Medical Faculty Heidelberg, and Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany.; Honzik T; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Praha, Czech Republic.; Huemer M; Department of Paediatrics, LKH Bregenz, 6900 Bregenz, Austria.; Division of Metabolism, University Children's Hospital, 8008 Zürich, Switzerland.; Janeiro P; Reference Center for Metabolic Diseases, Pediatric Department, Hospital de Santa Maria, ULSSM, 1169-045 Lisboa, Portugal.; Faculdade de Medicina, Universidade de Lisboa, 1649-028 Lisboa, Portugal.; Karaa A; Department of Paediatrics, Division of Genetics, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA.; Seher Kasapkara Ç; Department of Pediatric Metabolic Diseases, Children's Hospital, Ankara Bilkent City Hospital, 06800 Ankara, Türkiye.; Kern I; Department of Pediatrics, Geneva University Hospital, 1205 Geneva, Switzerland.; Klepper J; Department of Neuropediatrics, Children's Hospital Aschaffenburg-Alzenau, 63739 Aschaffenburg, Germany.; Klopstock T; Friedrich-Baur-Institute, Department of Neurology, LMU University Hospital, Ludwig-Maximilians-Universität München, 80336 Munich, Germany.; German Center for Neurodegenerative Diseases (DZNE), 81377 Munich, Germany.; Munich Cluster for Systems Neurology (SyNergy), 81377 Munich, Germany.; Knerr I; National Centre for Inherited Metabolic Disorders, Children's Health Ireland, Dublin 1, D01 XD99, Dublin, Ireland.; Koch J; University Children's Hospital, Expertise Centre for Mitochondrial diseases (Mitohaus), Paracelsus Medical University (PMU) Salzburg, 5020 Salzburg, Austria.; Krumina Z; Department of Biology and Microbiology, Riga Stradiņš University, Riga, LV-1007, Latvia.; Lamperti C; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20126 Milan, Italy.; Lebigot E; Biochemistry Department, Bicêtre Hospital, APHP Paris Saclay, 94270 Le Kremlin Bicêtre, France.; Liu Z; Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, 100005 Beijing, China.; Maier EM; Section of Inborn Errors of Metabolism, Dr. von Hauner Children's Hospital, University of Munich, 80337 Munich, Germany.; Martinelli D; Division of Metabolic Diseases and Hepatology, Bambino Gesù Children's Hospital, IRCCS, 00165, Rome, Italy.; McFarland R; Mitochondrial Research Group, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE1 4LP, UK.; Mendelsohn B; Department of Medical Genetics, Kaiser Permanente Oakland Medical Center, Oakland, CA 94611, USA.; Molnar MJ; Institute of Genomic Medicine and Rare Disorders, Semmelweis University, 1085 Budapest, Hungary.; Mundy H; Department of Inherited Metabolic Disease, Evelina London Children's Hospital, London SE1 7EH, UK.; Nassogne MC; Service de Neurologie Pédiatrique, Cliniques Universitaires Saint-Luc, UCLouvain, 1200 Brussels, Belgium.; Oliveira A; Medicine Department, Santa Maria University Hospital, 1649-028 Lisbon, Portugal.; Õunap K; Genetics and Personalized Medicine Clinic, Tartu University Hospital, 50406 Tartu, Estonia.; Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, 50406 Tartu, Estonia.; Panicucci C; Centre of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.; Parikh S; Center for Child Neurology, Cleveland Clinic Children's Hospital, Cleveland, Ohio 44195, USA.; Peters H; Department of Metabolic Medicine, Royal Children's Hospital, Melbourne, 3052 Victoria, Australia.; Pichard S; Reference center for Inherited Metabolic Diseases and reference center for mitochondrial disorders (CARAMMEL), Hopital Necker-Enfants Malades, AP-HP, University Paris Cité, 75015 Paris, France.; Plecko B; Division of General Pediatrics, Department of Pediatrics and Adolescent Medicine, Medical University of Graz, 8010 Graz, Austria.; Ramadža DP; Department of Pediatrics, University Hospital Centre, Zagreb and University of Zagreb, School of Medicine, 10000 Zagreb, Croatia.; Repetto GM; Center for Genetics and Genomics, Facultad de Medicina, Clinica Alemana Universidad del Desarrollo, 7550000 Santiago, Chile.; Rivera I; iMed.ULisboa - Instituto de Investigação do Medicamento, Faculdade de Farmácia, Universidade de Lisboa, 1649-003 Lisbon, Portugal.; Rodenburg RJ; Department of Pediatrics and Internal Medicine, Radboudumc Amalia Childrens Hospital, Radboud Center for Mitochondrial Medicine, 6525 Nijmegen, The Netherlands.; Rossi A; Department of Translational Medicine, Section of Paediatrics, University of Naples 'Federico II', 80131 Naples, Italy.; Schiff M; Reference center for Inherited Metabolic Diseases and reference center for mitochondrial disorders (CARAMMEL), Hopital Necker-Enfants Malades, AP-HP, University Paris Cité, 75015 Paris, France.; Seidemann K; Department of Pediatric Cardiology and Intensive Care Medicine, Hannover Medical School, Carl-Neuberg-Street 1, 30625, Hannover, Germany.; Smith WE; MaineHealth Maine Medical Center Portland, Barbara Bush Children's Hospital, Division of Genetics, Portland, ME 04102, USA.; Soares S; Neuropediatrics Unit, of the Pediatrics Department, of the Pedro Hispano Hospital, ULSM, 4464 Matosinhos, Portugal.; Siri B; Division of Metabolic Diseases and Hepatology, Bambino Gesù Children's Hospital, IRCCS, 00165, Rome, Italy.; Steinbrucker K; University Children's Hospital, Expertise Centre for Mitochondrial diseases (Mitohaus), Paracelsus Medical University (PMU) Salzburg, 5020 Salzburg, Austria.; Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16132 Genoa, Italy.; Paediatric Neurology and Muscle Disease Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.; Sykut-Cegielska J; Department of Inborn Errors of Metabolism and Paediatrics, The Institute of Mother and Child, 01-211 Warsaw, Poland.; Tal G; Metabolic Clinic and Pediatric Department B, Ruth Rappaport Children's Hospital, Rambam Health Care Campus, Haifa 3109601, Israel.; Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa 3109601, Israel.; Taylor RW; Mitochondrial Research Group, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE1 4LP, UK.; Tsiakas K; Department for Inborn Metabolic Diseases, University Children's Hospital, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.; Kalkan Ucar S; Division of Metabolism and Nutrition, Department of Pediatrics, Faculty of Medicine, Ege University, 35100 Izmir, Turkey.; van Konijnenburg EH; Department of Metabolic Diseases, Wilhelmina Children's Hospital University Medical Center Utrecht, 3584 EA Utrecht, The Netherlands.; Woidy M; Department for Inborn Metabolic Diseases, University Children's Hospital, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.; Yaplito-Lee J; Department of Metabolic Medicine, Royal Children's Hospital, Melbourne, 3052 Victoria, Australia.; Yildiz Y; Division of Pediatric Metabolism, Department of Pediatrics, Faculty of Medicine, Hacettepe University, 06230 Ankara, Turkey.; Zenker M; Institute of Human Genetics, University Hospital, 39120 Magdeburg, Germany.; Zsidegh P; Pediatric Centre, Bókay Street Department, Semmelweis University, 1083 Budapest, Hungary.; Westphal D; Institute of Human Genetics, University Hospital Salzburg, Paracelsus Medical University, 5020 Salzburg, Austria.; Sperl W; University Children's Hospital, Expertise Centre for Mitochondrial diseases (Mitohaus), Paracelsus Medical University (PMU) Salzburg, 5020 Salzburg, Austria.; Meitinger T; School of Medicine, Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, 81675 Munich, Germany.; Brown GK; Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, The Churchill Hospital, Oxford, OX3 7LE, UK.; Prokisch H; School of Medicine, Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, 81675 Munich, Germany.; Institute of Neurogenomics, Computational Health Centre, Helmholtz Zentrum München, 85764 Neuherberg, Germany.; German Center for Child and Adolescent Health (DZKJ), partner site Munich, 80337 Munich, Germany.; Mayr JA; University Children's Hospital, Expertise Centre for Mitochondrial diseases (Mitohaus), Paracelsus Medical University (PMU) Salzburg, 5020 Salzburg, Austria.; Institute of Human Genetics, University Hospital Salzburg, Paracelsus Medical University, 5020 Salzburg, Austria.; Wortmann SB; University Children's Hospital, Expertise Centre for Mitochondrial diseases (Mitohaus), Paracelsus Medical University (PMU) Salzburg, 5020 Salzburg, Austria.

Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

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The Lancet Neurology. 18(1):46-55

Roesch S; Department of Otorhinolaryngology, Head and Neck Surgery, University Hospital Regensburg, Regensburg, Germany. Electronic address: sebastian.roesch@ukr.de.; O'Sullivan A; Department of Otorhinolaryngology, Head and Neck Surgery, Paracelsus Medical University Salzburg, Salzburg, Austria; Institute of Pathology, Paracelsus Medical University, Salzburg, Austria.; Tschani S; Department of Otorhinolaryngology, Head and Neck Surgery, Paracelsus Medical University Salzburg, Salzburg, Austria.; Baghdasaryan A; Division of General Pediatrics, Department of Pediatrics and Adolescent Medicine, Medical University of Graz, Austria.; Balasubramaniam S; Genetic Metabolic Disorders Service, The Children's Hospital at Westmead, Westmead 2145, NSW, Australia; Discipline of Genomic Medicine, Sydney Medical School, University of Sydney, Sydney 2006, NSW, Australia.; Barić I; Department of Pediatrics, University Hospital Center Zagreb, Zagreb, Croatia; University of Zagreb, School of Medicine, Zagreb, Croatia.; de Boer L; Department of Pediatrics, Radboud University Medical Center, Amalia Children's Hospital Nijmegen, The Netherlands.; Grünert SC; Department of General Pediatrics, Adolescent Medicine and Neonatology, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany.; Guzek A; The Outpatient of Speech Therapy, The Children's Memorial Health Institute, Warsaw, Poland.; Janssen M; Department of Pediatrics, Radboud University Medical Center, Amalia Children's Hospital Nijmegen, The Netherlands.; Krumina Z; Department of Biology and Microbiology, Riga Stradin's University, Riga, Latvia.; Koenig MK; The University of Texas McGovern Medical School, Department of Pediatrics, Division of Child and Adolescent Neurology, Houston, TX, USA; Center for the Treatment of Pediatric Neurodegenerative Disease, The University of Texas McGovern Medical School, Houston, TX, USA.; Lewkowitz AM; Department of Otolaryngology & Communication Enhancement, Boston Children's Hospital, Boston, MA, USA.; Mochel F; AP-HP, DMU BioGem, Department of Medical Genetics, Reference Centers for Adult Neurometabolic diseases and Adult Leukodystrophies, Pitié-Salpêtrière University Hospital, F-75013 Paris, France; INSERM U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Paris Brain Institute, ICM, F-75013 Paris, France.; Naldi AM; Department of Otorhinolaryngology, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland.; Plecko B; Division of General Pediatrics, Department of Pediatrics and Adolescent Medicine, Medical University of Graz, Austria.; Öztürk K; Department of Otolaryngology, Ege University Medical Faculty Bornova, Izmir, Turkey.; O'Grady L; Division of Medical Genetics and Metabolism, Massachusetts General Hospital for Children, Boston, MA, USA.; Riordan G; Department of Paediatric Neurology, Red Cross War Memorial Children's Hospital, University of Cape Town, South Africa.; Rymen D; Department of Paediatrics, Metabolic Disease Center, University Hospitals Leuven, Leuven, Belgium; Department of Development and Regeneration, Faculty of Medicine, KU Leuven, Leuven, Belgium.; Sahai I; Division of Medical Genetics and Metabolism, Massachusetts General Hospital for Children, Boston, MA, USA; New England Newborn Screening Program and UMass Chen Medical School, Worcester, MA, USA.; Santer R; Department of Pediatrics, University Medical Center Eppendorf, Hamburg, Germany.; Schiff M; Reference Center for Mitochondrial Disease, CARAMMEL, Necker University Hospital, APHP and University of Paris Cité, Paris, France; INSERM UMRS_1163, Institut Imagine, Paris, France.; Stettner GM; Department of Pediatric Neurology, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland.; Tsiakas K; Department of Pediatrics, University Medical Center Eppendorf, Hamburg, Germany.; Uçar SK; Department of Pediatrics, Ege Division of Metabolism and Nutrition, University Medical Faculty Bornova, Izmir, Turkey.; Uzun ÖÜ; Department of Pediatric Metabolism, Faculty of Medicine, Kocaeli University, Umuttepe, Campus, İzmit, Kocaeli, Turkey.; Weigel C; Department of Pediatrics and Adolescent Medicine, University Hospital Erlangen, Erlangen, Germany.; Witters P; Department of Paediatrics, Metabolic Disease Center, University Hospitals Leuven, Leuven, Belgium; Department of Development and Regeneration, Faculty of Medicine, KU Leuven, Leuven, Belgium.; Merkevicius K; Clinic of Paediatrics, Institute of Clinical Medicine, Faculty of Medicine, Vilnius University, Vilnius, Lithuania; Institute of Biosciences, Life Sciences Center, Vilnius University, Lithuania.; Mayr JA; University Children's Hospital, Paracelsus Medical University, Salzburg, Austria.; Wortmann SB; University Children's Hospital, Paracelsus Medical University, Salzburg, Austria.; Iwanicka-Pronicka K; Genetic Department, The Children's Memorial Health Institute, Warsaw, Poland.

Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE

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The Lancet Neurology. 17(10):895-904

Heath O; University Children's Hospital, Salzburger Landeskliniken (SALK), Paracelsus Medical University (PMU), Müllner Hauptstrasse 48, 5020 Salzburg, Austria.; Hammerl E; University Children's Hospital, Salzburger Landeskliniken (SALK), Paracelsus Medical University (PMU), Müllner Hauptstrasse 48, 5020 Salzburg, Austria.; Spitzinger A; University Children's Hospital, Salzburger Landeskliniken (SALK), Paracelsus Medical University (PMU), Müllner Hauptstrasse 48, 5020 Salzburg, Austria.; Institut für Klinische Psychologie der UK für Psychiatrie, Psychotherapie und Psychosomatik der PMU, 5020 Salzburg, Austria.; Wortmann SB; University Children's Hospital, Salzburger Landeskliniken (SALK), Paracelsus Medical University (PMU), Müllner Hauptstrasse 48, 5020 Salzburg, Austria.; Nijmegen Centre for Mitochondrial Disorders (NCMD), Amalia Children's Hospital, Radboudumc, 6525 Nijmegen, The Netherlands.

Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101602269 Publication Model: Electronic Cited Medium: Print ISSN: 2075-4426 (Print) Linking ISSN: 20754426 NLM ISO Abbreviation: J Pers Med Subsets: PubMed not MEDLINE