부산대학교 도서관

Schwartz O; Department of Pediatric Neurology, Münster University Hospital, Münster, Germany.; Vill K; Department of Pediatric Neurology and Developmental Medicine and Ludwig Maximilians University Center for Children with Medical Complexity, Dr. von Hauner Children's Hospital, Ludwig Maximilians University Hospital, Ludwig Maximilians University, Munich, Germany.; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.; Pfaffenlehner M; Institute of Medical Biometry and Statistics, Faculty of Medicine and Medical Center, University of Freiburg, Freiburg, Germany.; Freiburg Centre for Data Analysis and Modelling, University of Freiburg, Freiburg, Germany.; Behrens M; Institute of Medical Biometry and Statistics, Faculty of Medicine and Medical Center, University of Freiburg, Freiburg, Germany.; Freiburg Centre for Data Analysis and Modelling, University of Freiburg, Freiburg, Germany.; Weiß C; Department of Pediatric Neurology and Center for Chronically Sick Children, Charité, University Medicine Berlin, Berlin, Germany.; Johannsen J; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Friese J; Department of Neuropediatrics, Faculty of Medicine, University Hospital Bonn, Bonn, Germany.; Hahn A; Department of Child Neurology, Justus-Liebig University, Giessen, Germany.; Ziegler A; Department of Neuropediatrics and Metabolic Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Illsinger S; Clinic for Pediatric Kidney, Liver and Metabolic Diseases, Hannover Medical School, Hannover, Germany.; Smitka M; Abteilung Neuropaediatrie, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.; von Moers A; Department of Pediatrics und Neuropediatrics, Deutsches Rotes Kreuz Kliniken Berlin, Berlin, Germany.; Kölbel H; Department of Neuropediatrics and Neuromuscular Centre for Cdhildren and Adolescents, Center for Translational Neuro and Behavioral Sciences, University of Duisburg-Essen, Essen, Germany.; Schreiber G; Department of Pediatric Neurology, Klinikum Kassel, Kassel, Germany.; Kaiser N; Department of Paediatric Neurology, University Children's Hospital, Tübingen, Germany.; Wilichowski E; Department of Paediatrics and Pediatric Neurology, University Medical Centre, Georg August University Göttingen, Göttingen, Germany.; Flotats-Bastardas M; Department of Pediatric Neurology, Saarland University Hospital, Homburg, Germany.; Husain RA; Department of Neuropediatrics, Jena University Hospital, Jena, Germany.; Baumann M; Division of Pediatric Neurology, Department of Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria.; Köhler C; St. Josef-Hospital, Universitätsklinik für Kinder- und Jugendmedizin, Abteilung für Neuropädiatrie und Sozialpädiatrie, Ruhr-Universität Bochum, Bochum, Germany.; Trollmann R; Division of Pediatric Neurology, Department of Pediatrics, Friedrich-Alexander-University of Erlangen-Nürnberg, Erlangen, Germany.; Schwerin-Nagel A; Division of General Pediatrics, Department of Pediatrics and Adolescent Medicine, Medical University of Graz, Graz, Austria.; Eisenkölbl A; Department of Paediatrics and Adolescent Medicine, Kepler University Hospital, Johannes Kepler University Linz, Linz, Austria.; Schimmel M; Pediatric Neurology, Pediatrics and Adolescent Medicine, University Medical Center Augsburg, Augsburg, Germany.; Fleger M; Department of Pediatrics, State Hospital of Bregenz, Bregenz, Austria.; Kauffmann B; Departement of Pediatric Neurology, Eltern-Kind-Zentrum Prof. Hess, Central Hospital Bremen, Bremen, Germany.; Wiegand G; Neuropediatrics Section of the Department of Pediatrics, Asklepios Clinic Hamburg Nord-Heidberg, Hamburg, Germany.; Baumgartner M; Department of Pediatrics and Adolescent Medicine, Ordensklinikum Linz, Barmherzige Schwestern, Linz, Austria.; Rauscher C; Department of Pediatrics and Adolescent Medicine, Private Medical University of Salzburg, Salzburg, Austria.; Cirak S; Division of Pediatric Neurology, Metabolics and Social Pediatrics, Department of Pediatrics and Adolescent Medicine, Ulm University Medical Center, Ulm University, Ulm, Germany.; Gläser D; MVZ Genetikum GmbH, Center for Human Genetics, Neu-Ulm, Germany.; Bernert G; Department of Pediatrics, Clinic Favoriten, Vienna, Austria.; Hagenacker T; Department of Neurology, and Center for Translational Neuro and Behavioral Sciences, University Medicine Essen, Essen, 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.; Müller-Felber W; Department of Pediatric Neurology and Developmental Medicine and Ludwig Maximilians University Center for Children with Medical Complexity, Dr. von Hauner Children's Hospital, Ludwig Maximilians University Hospital, Ludwig Maximilians University, Munich, Germany.; Schara-Schmidt U; Department of Neuropediatrics and Neuromuscular Centre for Cdhildren and Adolescents, Center for Translational Neuro and Behavioral Sciences, University of Duisburg-Essen, Essen, Germany.; Walter MC; Friedrich Baur Institute at the Department of Neurology, University Hospital, Ludwig Maximilians University, Munich, Munich, Germany.; Kirschner J; Department of Neuropediatrics and Muscle Disorders, Medical Center, University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Pechmann A; Department of Neuropediatrics and Muscle Disorders, Medical Center, University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.

Publisher: American Medical Association Country of Publication: United States NLM ID: 101589544 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2168-6211 (Electronic) Linking ISSN: 21686203 NLM ISO Abbreviation: JAMA Pediatr Subsets: MEDLINE

van Kuilenburg, ABP; Dobritzsch, D; Meijer, J; Krumpel, M; Selim, LA; Rashed, MS; Assmann, B; Meinsma, R; Lohkamp, B; Ito, T; Abeling, NGGM; Saito, K; Eto, K; Smitka, M; Engvall, M; Zhang, CH; Xu, W; Zoetekouw, L; Hennekam, RCM

Biochimica et biophysica acta. 1822(7):1096-1108

Vill K; Department of Pediatric Neurology and Developmental Medicine and LMU Center for Children With Medical Complexity, Dr. Von Hauner Children's Hospital, LMU Hospital, Ludwig-Maximilians-University, 80337, Munich, Germany. Katharina.vill@med.lmu.de.; School of Medicine, Klinikum Rechts Der Isar, Department of Human Genetics, Technical University of Munich, Munich, Germany. Katharina.vill@med.lmu.de.; Tacke M; Department of Pediatric Neurology and Developmental Medicine and LMU Center for Children With Medical Complexity, Dr. Von Hauner Children's Hospital, LMU Hospital, Ludwig-Maximilians-University, 80337, Munich, Germany.; König A; Department of Pediatric Neurology and Developmental Medicine and LMU Center for Children With Medical Complexity, Dr. Von Hauner Children's Hospital, LMU Hospital, Ludwig-Maximilians-University, 80337, Munich, Germany.; Baumann M; Division of Pediatric Neurology, Department of Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria.; Baumgartner M; Department of Children and Adolescents, Ordensklinikum Linz Barmherzige Schwestern, Linz, Austria.; Steinbach M; Department of Neurology, University Medical Center Schleswig-Holstein, Kiel, Germany.; Bernert G; Clinic for Pediatrics, Gesundheitsverbund Wien, Vienna, Austria.; Blaschek A; Department of Pediatric Neurology and Developmental Medicine and LMU Center for Children With Medical Complexity, Dr. Von Hauner Children's Hospital, LMU Hospital, Ludwig-Maximilians-University, 80337, Munich, Germany.; Deschauer M; School of Medicine, Klinikum Rechts Der Isar, Department of Neurology, Technical University of Munich, Munich, Germany.; Flotats-Bastardas M; Department of Neuropaediatrics, Saarland University Hospital, Homburg, Germany.; Friese J; Department of Neuropediatrics, University Hospital Bonn, Center for Pediatrics, Bonn, Germany.; Goldbach S; Deutsche Gesellschaft Für Muskelkranke E.V., Freiburg, Germany.; Gross M; Department of Neurological Intensive Care and Rehabilitation, Evangelisches Krankenhaus Oldenburg, Oldenburg, Germany.; Günther R; University Hospital Carl Gustav Carus Dresden at Technische Universität Dresden, Dresden, Germany.; Hahn A; Department of Child Neurology, Justus-Liebig-University Gießen, Gießen, Germany.; Hagenacker T; Department of Neurology, and Center for Translational Neuro- and Behavioral Sciences (C-TNBS), University Medicine Essen, Essen, Germany.; Hauser E; Department for Neuropädiatrie, Landeskrankenhaus Mödling, Mödling, Austria.; Horber V; Department of Paediatric Neurology, University Children's Hospital Tübingen, Tübingen, Germany.; Illsinger S; Hannover Medical School, Clinic for Pediatric Kidney-, Liver- and Metabolic Diseases, Hannover, Germany.; Johannsen J; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Kamm C; Department of Neurology, University of Rostock, Rostock, Germany.; Koch JC; Klinik Für Neurologie Universitätsmedizin Göttingen, Göttingen, Germany.; Koelbel H; Department of Pediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen, Essen, Germany.; Koehler C; Klinik Für Kinder-Und Jugendmedizin der Ruhr-Universität Bochum Im St. Josef-Hospital, Bochum, Germany.; Kolzter K; Kliniken Köln, Sozialpädiatrisches Zentrum, Cologne, Germany.; Lochmüller H; Division of Neurology, Department of Medicine, Children's Hospital of Eastern Ontario Research Institute, The Ottawa Hospital and Brain and Mind Research Institute, University of Ottawa, Ottawa, Canada.; Department of Neuropediatrics and Muscle Disorders, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Ludolph A; Department for Neurology, University of Ulm, Ulm, Germany.; Department of Neurology, Ulm University, Ulm, Germany.; Mensch A; Department of Neurology, University Medicine Halle, Halle, Saale, Germany.; Meyer Zu Hoerste G; Department of Neurology, University Hospital Münster, Münster, Germany.; Mueller M; Department for Neuropediatrics, University of Wuerzburg, Würzburg, Germany.; Mueller-Felber W; Department of Pediatric Neurology and Developmental Medicine and LMU Center for Children With Medical Complexity, Dr. Von Hauner Children's Hospital, LMU Hospital, Ludwig-Maximilians-University, 80337, Munich, Germany.; Neuwirth C; Neuromuscular Diseases Unit/ALS Clinic, Kantonsspital St. Gallen, St. Gallen, Switzerland.; Petri S; Department of Neurology, Hannover Medical School, Hannover, Germany.; Probst-Schendzielorz K; Initiative SMA der Deutschen Gesellschaft Für Muskelkranke, Freiburg, Germany.; Pühringer M; Department of Pediatrics and Adolescent Medicine, Kepler University Hospital Linz, Linz, Austria.; Steinbach R; Department of Neurology, University Hospital Jena, Jena, Germany.; Schara-Schmidt U; Department of Pediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen, Essen, Germany.; Schimmel M; Pediatric Neurology, Pediatrics and Adolescent Medicine, University Medical Center Augsburg, Augsburg, Germany.; Schrank B; Department of Neurology, DKD Helios Klinik Wiesbaden, Wiesbaden, Germany.; Schwartz O; Universitätsklinikum Münster Klinik Für Kinder- Und Jugendpädiatrie- Neuropädiatrie, Albert-Schweitzer-Campus 1, Münster, Germany.; Schlachter K; Department of Neuropediatrics, Landeskrankenhaus Bregenz, Bregenz, Austria.; Schwerin-Nagel A; Medical University Graz Childrens Hospital, Graz, Austria.; Schreiber G; Department of Neuropediatics, Klinikum Kassel, Kassel, Germany.; Smitka M; Department of Neuropediatrics, Medical Faculty Carl Gustav Carus, Technical University Dresden, Dresden, Germany.; Topakian R; Department of Neurology, Academic Teaching Hospital Wels-Grieskirchen, Wels, Austria.; Trollmann R; Department of Pediatrics, Friedrich-Alexander Universität Erlangen-Nürnberg Pediatric Neurology, Erlangen, Germany.; Tuerk M; Department of Neurology, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Erlangen, Germany.; Centre for Rare Diseases Erlangen (ZSEER), University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg (FAU), Erlangen, Germany.; Theophil M; DRK Kliniken Berlin - Westend Kinderklinik, Berlin, Germany.; Rauscher C; Department for Neuropediatrics, University of Salzburg, Salzburg, Austria.; Vorgerd M; Department of Neurology, BG-University Hospital Bergmannsheil gGmbH, Heimer Institute for Muscle Research, Ruhr-University Bochum, Bochum, Germany.; Walter MC; Friedrich Baur Institute at the Department of Neurology, LMU University Hospital, Ludwig Maximilians University, Munich, Germany.; Weiler M; Department of Neurology, Heidelberg University Hospital, Heidelberg, Germany.; Weiss C; Charité - University Medicine Berlin, Center for Chronically Sick Children, Berlin, Germany.; Wilichowski E; Department for Neuropediatrics, University Göttingen, Göttingen, Germany.; Wurster CD; Department of Neurology, Ulm University, Ulm, Germany.; Wunderlich G; German Center for Neurodegenerative Diseases, DZNE, Site Ulm, Ulm, Germany.; Faculty of Medicine and University Hospital, Department of Neurology and Center for Rare Diseases, University of Cologne, Cologne, Germany.; Zeller D; Department of Neurology, University Hospital Würzburg, Würzburg, Germany.; Ziegler A; Center for Childhood and Adolescent Medicine, Department of Metabolic Medicine and Pediatric Neurology, University Hospital Heidelberg, Heidelberg, Germany.; Kirschner J; Klinik Für Kinder-Und Jugendmedizin der Ruhr-Universität Bochum Im St. Josef-Hospital, Bochum, Germany.; Pechmann A; Klinik Für Kinder-Und Jugendmedizin der Ruhr-Universität Bochum Im St. Josef-Hospital, Bochum, Germany.

Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 0423161 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1459 (Electronic) Linking ISSN: 03405354 NLM ISO Abbreviation: J Neurol Subsets: MEDLINE

Gellrich J; Abteilung Neuropädiatrie, Faculty of Medicine and University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.; Department of Pediatrics, Faculty of Medicine and University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.; Zickmüller C; Abteilung Neuropädiatrie, Faculty of Medicine and University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.; Thieme T; Abteilung Neuropädiatrie, Faculty of Medicine and University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.; Karpinski C; Klinik und Poliklinik für Kinderchirurgie, Faculty of Medicine and University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.; Fitze G; Klinik und Poliklinik für Kinderchirurgie, Faculty of Medicine and University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.; Smitka M; Abteilung Neuropädiatrie, Faculty of Medicine and University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.; von der Hagen M; Abteilung Neuropädiatrie, Faculty of Medicine and University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.; Schriever VA; Center for Chronically Sick Children (Sozialpädiatrisches Zentrum, SPZ), Charité - Universitätsmedizin Berlin, Campus Virchow-KlinikumAugustenburger Pl. 113353 Berlin, Germany.; Department of Pediatric Neurology, Charité - Universitätsmedizin Berlin, Charité Campus Virchow-Klinikum, Mittelallee 9, 13353 Berlin, Germany.

Publisher: Oxford University Press Country of Publication: United States NLM ID: 9110718 Publication Model: Print Cited Medium: Internet ISSN: 1460-2199 (Electronic) Linking ISSN: 10473211 NLM ISO Abbreviation: Cereb Cortex Subsets: MEDLINE

Macri, Lucas M.; Ngeow, Chow-Choong; Kanbur, Shashi M.; Mahzooni, Salma; Smitka, Michael T.

Astronomical Journal, 149, 117 (2015)

Brown, Peter J.; Smitka, Michael T.; Wang, Lifan; Breeveld, Alice; de Pasquale, Massimiliano; Hartmann, Dieter H.; Krisciunas, Kevin; Kuin, N. P. M.; Milne, Peter A.; Page, Mat; Siegel, Michael

Pfrimmer C; Department of Child Neurology, Justus-Liebig-University Gießen, Gießen, Germany.; Smitka M; Children's Hospital, Medical Faculty Carl Gustav Carus, Technical University Dresden, Dresden, Germany.; Muschol N; Department of Pediatrics, University Medical Center Hamburg Eppendorf, Hamburg, Germany.; Husain RA; Centre for Inborn Metabolic Disorders, Department of Neuropediatrics, Jena University Hospital, Jena, Germany.; Huemer M; Department of Pediatrics, Landeskrankenhaus Bregenz, Bregenz, Austria and Division of Metabolism, Children's Research Center and University Children's Hospital Zurich, Zurich, Switzerland.; Hennermann JB; Villa Metabolica, Center for Pediatric and Adolescent Medicine, University Medical Center Mainz, Mainz, Germany.; Schuler R; Department of General Pediatrics and Neonatology, Justus-Liebig-University Gießen, Gießen, Germany.; Hahn A; Department of Child Neurology, Justus-Liebig-University Gießen, Gießen, Germany.

Publisher: IOS Press Country of Publication: Netherlands NLM ID: 101649948 Publication Model: Print Cited Medium: Internet ISSN: 2214-3602 (Electronic) NLM ISO Abbreviation: J Neuromuscul Dis Subsets: MEDLINE

Kühn, M.; Abolmaali, N.; Smitka, M.; Podlesek, D.; Hummel, T.

HNO: Deutsche Gesellschaft für Hals-Nasen-Ohren-Heilkunde, Kopf- und Hals-Chirurgie. July 2016 64(7):517-529

Saffari A; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Division of Child Neurology and Inherited Metabolic Diseases, Heidelberg University Hospital, Heidelberg, Germany.; Lau T; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London, UK.; Tajsharghi H; School of Health Sciences, Division of Biomedicine, University of Skovde, Skovde, Sweden.; Karimiani EG; Molecular and Clinical Sciences Institute, St. George's, University of London, Cranmer Terrace, London, UK.; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.; Kariminejad A; Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran.; Efthymiou S; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London, UK.; Zifarelli G; CENTOGENE GmbH, Am Strande 7, 18055 Rostock, Germany.; Sultan T; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London, UK.; Toosi MB; Department of Pediatrics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Neuroscience Research Center, Mashhad University of Medical Sciences, Mashhad, Iran.; Sedighzadeh S; Department of Biological Sciences, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.; KaryoGen, Isfahan, Iran.; Siu VM; Division of Medical Genetics, Department of Pediatrics, Schulich School of Medicine and Dentistry, Western University, London, ON, Canada.; Ortigoza-Escobar JD; Movement Disorders Unit, Pediatric Neurology Department, Institut de Recerca, Hospital Sant Joan de Déu Barcelona, Barcelona, Spain.; AlShamsi AM; Genetic Division, Pediatrics Department, Tawam Hospital, Al Ain, UAE.; Ibrahim S; Department of pediatrics and child Health, Aga Khan University, Karachi, Pakistan.; Al-Sannaa NA; Pediatric Services, John Hopkins Aramco Health Care, Dhahran, Saudi Arabia.; Al-Hertani W; Harvard Medical School, Boston Children's Hospital, Department of Pediatrics, Division of Genetics and Genomics, Boston, MA, USA.; Sandra W; APHP UF de Génétique Clinique, Centre de Référence des Anomalies du Développement et Syndromes Malformatifs, APHP, Hôpital Armand Trousseau, ERN ITHACA, Sorbonne Université, Paris, France.; Tarnopolsky M; Department of Pediatrics (MT - Neuromuscular and Neurometabolics, CL - Medical Genetics), McMaster Children's Hospital, Hamilton, Ontario, Canada.; Alavi S; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London, UK.; Li C; Department of Pediatrics (MT - Neuromuscular and Neurometabolics, CL - Medical Genetics), McMaster Children's Hospital, Hamilton, Ontario, Canada.; Day-Salvatore DL; The Department of Medical Genetics and Genomic Medicine at Saint Peter's University Hospital, New Brunswick, NJ, USA.; Martínez-González MJ; Pediatric Neurology Unit, Cruces University Hospital, Barakaldo, Vizcaya, Spain.; Levandoski KM; The Department of Medical Genetics and Genomic Medicine at Saint Peter's University Hospital, New Brunswick, NJ, USA.; Bedoukian E; Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Madan-Khetarpal S; Division of Genetic and Genomic Medicine, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA.; Idleburg MJ; Division of Genetic and Genomic Medicine, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA.; Menezes MJ; Department of Anaesthesia, the Children's Hospital at Westmead, Sydney, NSW, Australia.; Discipline of Child and Adolescent Health, and Specialty of Genomic Medicine, Sydney Medical School, Sydney University, Sydney, NSW, Australia.; Siddharth A; Harvard Medical School, Boston Children's Hospital, Department of Pediatrics, Division of Genetics and Genomics, Boston, MA, USA.; Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Oppermann H; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Smitka M; Department of Neuropediatrics, Medical Faculty Carl Gustav Carus, Technical University Dresden, Dresden, Germany.; Collins F; Discipline of Child and Adolescent Health, and Specialty of Genomic Medicine, Sydney Medical School, Sydney University, Sydney, NSW, Australia.; Department of Clinical Genetics, Children's Hospital at Westmead, Sydney, NSW, Australia.; Lek M; Department of Genetics, Yale School of Medicine, New Haven, Connecticut, USA.; Shahrooei M; Medical Laboratory of Dr. Shahrooei, Tehran, Iran.; Department of Microbiology and Immunology, Clinical and Diagnostic Immunology, KU Leuven, Leuven, Belgium.; Ghavideldarestani M; Medical Laboratory of Dr. Shahrooei, Tehran, Iran.; Herman I; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Division of Pediatric Neuroscience, Boys Town National Research Hospital, Boys Town, NE, USA.; Rendu J; Univ. Grenoble Alpes, Inserm, U1216, CHU Grenoble Alpes, Grenoble Institut Neurosciences, Grenoble, France.; Faure J; Univ. Grenoble Alpes, Inserm, U1216, CHU Grenoble Alpes, Grenoble Institut Neurosciences, Grenoble, France.; Baker J; Division of Genetics and Genomic Medicine, Children's Hospital and Clinics of Minnesota, Minneapolis, Minnesota, USA.; Bhambhani V; Division of Genetics and Genomic Medicine, Children's Hospital and Clinics of Minnesota, Minneapolis, Minnesota, USA.; Calderwood L; Lucile Packard Children's Hospital Stanford, Palo Alto, CA, USA.; Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, Stanford, CA, USA.; Akhondian J; Pediatric Neurology Department, Ghaem Hospital, Mashhad University of Medical Sciences, Mashhad, Iran.; Imannezhad S; Department of Pediatric Neurology, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Mirzadeh HS; Department of Pediatric Neurology, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Hashemi N; Department of Pediatrics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Doosti M; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.; Safi M; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.; Ahangari N; Innovative medical research centre, Mashhad branch, Islamic Azad University, Mashhad, Iran.; Torbati PN; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.; Abedini S; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London, UK.; Salpietro V; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London, UK.; Gulec EY; Istanbul Medeniyet University Medical School, Department of Medical Genetics, Istanbul, Turkey.; Eshaghian S; Isfahan Fertility and Infertility Center, Isfahan, Iran.; Ghazavi M; Department of Pediatric Neurology, Imam Hossein Children's Hospital, Isfahan University of Medical Sciences, Isfahan, Iran.; Pascher MT; Friedrich-Baur-Institute at the Department of Neurology, University Hospital, LMU Munich, Munich, Germany.; Vogel M; Friedrich-Baur-Institute at the Department of Neurology, University Hospital, LMU Munich, Munich, Germany.; Deutsches Krebsforschungszentrum, Heidelberg, Germany.; Abicht A; Friedrich-Baur-Institute at the Department of Neurology, University Hospital, LMU Munich, Munich, Germany.; Medizinisch Genetisches Zentrum, Munich, German.; Moutton S; Multidisciplinary Center for Prenatal Diagnosis, Pôle Mère Enfant, Maison de Santé Protestante Bordeaux Bagatelle, Talence, France.; Bruel AL; Équipe Génétique des Anomalies du Développement (GAD), INSERM UMR1231, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, Dijon University Hospital, Dijon, France.; Rieubland C; Division of Human Genetics, Department of Pediatrics, Inselspital, University of Bern, Switzerland.; Gallati S; Division of Human Genetics, Department of Pediatrics, Inselspital, University of Bern, Switzerland.; Strom TM; Institute of Human Genetics, Klinikum rechts der Isar, Technical University Munich, Munich, Germany.; Lochmüller H; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.; Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, Canada.; Mohammadi MH; Department of pediatrics, Zabol University of medical sciences, Zabol, Iran.; Alvi JR; Department of Pediatric Neurology, The Children's Hospital and the University of Child Health Sciences, Lahore, Pakistan.; Zackai EH; Division of Human Genetics, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA, USA.; Keena BA; Division of Human Genetics, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA, USA.; Skraban CM; Division of Human Genetics, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA, USA.; Berger SI; Children's National Research Institute, Washington DC, USA.; Andrew EH; Children's National Research Institute, Washington DC, USA.; Rahimian E; Haghighat Medical Imaging center-Tehran, Tehran, Iran.; Morrow MM; GeneDx, Gaithersburg, MD, USA.; Wentzensen IM; GeneDx, Gaithersburg, MD, USA.; Millan F; GeneDx, Gaithersburg, MD, USA.; Henderson LB; GeneDx, Gaithersburg, MD, USA.; Dafsari HS; Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Max-Planck-Institute for Biology of Ageing and CECAD, Cologne, Germany.; Department of Paediatric Neurology - Neuromuscular Service, Evelina London Children's Hospital, Guy's & St Thomas' Hospital NHS Foundation Trust, London, UK.; Jungbluth H; Department of Paediatric Neurology - Neuromuscular Service, Evelina London Children's Hospital, Guy's & St Thomas' Hospital NHS Foundation Trust, London, UK.; Randall Centre for Cell and Molecular Biophysics, Muscle Signalling Section, Faculty of Life Sciences and Medicine (FoLSM), King's College London, London, UK.; Gomez-Ospina N; Department of Pediatrics, Stanford University, Stanford, CA, USA.; McRae A; Division of Genetics, Genomics, and Metabolism, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, USA.; Peter M; Division of Genetics, Genomics, and Metabolism, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, USA.; Veltra D; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece.; Marinakis NM; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece.; Sofocleous C; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece.; Ashrafzadeh F; Department of Pediatric Neurology, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Pehlivan D; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Lemke JR; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Center for Rare Diseases, University of Leipzig Medical Center, Leipzig, Germany.; Melki J; Institut National de la Santé et de la Recherche Médicale (Inserm), UMR-1195, Université Paris Saclay, Le Kremlin Bicêtre, 94276, Paris, France.; Benezit A; Neurologie et réanimation pédiatrique, Hôpital Raymond Poincaré, APHP, Garches, France.; Bauer P; CENTOGENE GmbH, Am Strande 7, 18055 Rostock, Germany.; Weis D; Department of Medical Genetics, Kepler University Hospital, Johann Kepler University, Linz, Austria.; Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Senderek J; Friedrich-Baur-Institute at the Department of Neurology, University Hospital, LMU Munich, Munich, Germany.; Christodoulou J; Discipline of Child and Adolescent Health, and Specialty of Genomic Medicine, Sydney Medical School, Sydney University, Sydney, NSW, Australia.; Murdoch Children's Research Institute, Melbourne and Department of Paediatrics, Melbourne Medical School, University of Melbourne, Melbourne, VIC, Australia.; Chung WK; Department of Pediatrics and Medicine, Columbia University New York, NY, USA.; Goodchild R; KU Leuven Department of Neurosciences, Leuven Brain Institute, Leuven, Belgium.; VIB-KU Leuven Center for Brain and Disease Research, Laboratory for Dystonia Research, Leuven, Belgium.; Offiah AC; Department of Oncology & Metabolism, University of Sheffield, UK.; Moreno-De-Luca A; Autism & Developmental Medicine Institute, Genomic Medicine Institute, Department of Radiology, Diagnostic Medicine Institute, Geisinger, Danville, PA, USA.; Suri M; Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham, UK.; Ebrahimi-Fakhari D; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Movement Disorders Program, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.; Intellectual and Developmental Disabilities Research Center, Boston Children's Hospital, Boston, MA, USA.; Houlden H; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London, UK.; Maroofian R; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London, UK.

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

Akinnurun OM; Carl Gustav Carus Faculty of Medicine, Institute for Medical Microbiology and Virology, TU Dresden, Dresden, Germany. oluwafemi.akinnurun@ukdd.de.; Narvaez Encalada M; Carl Gustav Carus Faculty of Medicine, Institute for Medical Microbiology and Virology, TU Dresden, Dresden, Germany.; Orth J; Carl Gustav Carus Faculty of Medicine, Department of Paediatric Neurology, TU Dresden, Dresden, Germany.; Petzold M; Carl Gustav Carus Faculty of Medicine, Institute for Medical Microbiology and Virology, TU Dresden, Dresden, Germany.; Böttcher S; National Reference Centre for Poliomyelitis and Enteroviruses, Robert Koch- Institute, Berlin, Germany.; Diedrich S; National Reference Centre for Poliomyelitis and Enteroviruses, Robert Koch- Institute, Berlin, Germany.; Smitka M; Carl Gustav Carus Faculty of Medicine, Department of Paediatric Neurology, TU Dresden, Dresden, Germany.; Schröttner P; Carl Gustav Carus Faculty of Medicine, Institute for Medical Microbiology and Virology, TU Dresden, Dresden, Germany.; Carl Gustav Carus Faculty of Medicine, Institute for Clinical Chemistry and Laboratory Medicine, TU Dresden, Dresden, Germany.

Publisher: BioMed Central Country of Publication: England NLM ID: 101293382 Publication Model: Electronic Cited Medium: Internet ISSN: 1752-1947 (Electronic) Linking ISSN: 17521947 NLM ISO Abbreviation: J Med Case Rep Subsets: MEDLINE