부산대학교 도서관

Uhrova Meszarosova A; Neurogenetic Laboratory, Department of Paediatric Neurology, Second Faculty of Medicine Charles University and University Hospital Motol, Prague, Czechia.; Galiart E; Neuromuscular Center Zurich and Department of Paediatric Neurology, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland.; Lassuthova P; Neurogenetic Laboratory, Department of Paediatric Neurology, Second Faculty of Medicine Charles University and University Hospital Motol, Prague, Czechia.; Kolokotronis K; Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland.; Seidl B; Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland.; Musilova A; Neurogenetic Laboratory, Department of Paediatric Neurology, Second Faculty of Medicine Charles University and University Hospital Motol, Prague, Czechia.; Peckova A; Department of Medical Genetics, Masaryk Hospital, Ústí nad Labem, Czechia.; Takacsova A; Department of Medical Genetics and Genomics, Faculty Hospital, Brno, Czechia.; Vyhnalkova E; Department of Biology and Medical Genetics, Second Faculty of Medicine Charles University and University Hospital Motol, Prague, Czechia.; Grecmalova D; Institute of Molecular and Clinical Pathology and Medical Genetics, University Hospital Ostrava and Institute of Laboratory Medicine, Medical Faculty, Ostrava, Czechia.; Vlckova E; Department of Neurology, Masaryk University and University Hospital Brno, Brno, Czechia.; Skutilova V; Department of Molecular Biology, Faculty Hospital Hradec Kralove, Hradec Kralove, Czechia.; Steindl K; Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland.; Rauch A; Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland.; Stettner GM; Neuromuscular Center Zurich and Department of Paediatric Neurology, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland.; Safka Brozkova D; Neurogenetic Laboratory, Department of Paediatric Neurology, Second Faculty of Medicine Charles University and University Hospital Motol, Prague, Czechia.

Publisher: Frontiers Media S.A Country of Publication: Switzerland NLM ID: 101648047 Publication Model: eCollection Cited Medium: Print ISSN: 2296-858X (Print) Linking ISSN: 2296858X NLM ISO Abbreviation: Front Med (Lausanne) Subsets: PubMed not MEDLINE

Kirschner, Janbernd ; Schessl, Joachim ; Schara, Ulrike ; Reitter, Bernd ; Stettner, Georg M ; Hobbiebrunken, Elke ; Wilichowski, Ekkehard ; Bernert, Günther ; Weiss, Simone ; Stehling, Florian ; Wiegand, Gert ; Müller-Felber, Wolfgang ; Thiele, Simone ; Grieben, Ulrike ; von der Hagen, Maja ; Lütschg, Jürg ; Schmoor, Claudia ; Ihorst, Gabriele ; Korinthenberg, Rudolf

In Lancet Neurology 2010 9(11):1053-1059

Weiß C; Department of Pediatric Neurology, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany.; Vill K; Department of Paediatric Neurology and Developmental Medicine, Ludwig Maximilian University of Munich (LMU), Hauner Children's Hospital, Munich, Germany.; Baumann M; Division of Pediatric Neurology, Department of Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria.; Bernert G; Department of Pediatrics, Klinik Favoriten, Vienna, Austria.; Blaschek A; Department of Paediatric Neurology and Developmental Medicine, Ludwig Maximilian University of Munich (LMU), Hauner Children's Hospital, Munich, Germany.; Eisenkölbl A; Department of Paediatrics and Adolescent Medicine, Johannes Kepler University Linz, Kepler University Hospital, 4020 Linz, Austria.; Flotats-Bastardas M; Department of General Pediatrics and Neonatology, Division of Neuropediatrics, Saarland University, Homburg Saar, Germany.; Friese J; Department of Child Neurology, University Hospital Bonn, Bonn, Germany.; Ganter C; Medical Faculty Heidelberg, INTEGRATE ATMP Project, Heidelberg University, Heidelberg, Germany.; Goldhahn K; Department of Pediatrics and Neuropediatrics, DRK Klinikum Westend, Berlin, Germany.; Hahn A; Department of Child Neurology, University Hospital Gießen, Gießen, Germany.; von der Hagen M; Department of Neuropediatrics, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.; Hartmann H; Clinic for Pediatric Kidney-, Liver-, Metabolic and Neurological Diseases, Hannover Medical School, Hannover, Germany.; Hasselmann O; Department of Pediatric Neurology, Children's hospital Ostschweiz, St. Gallen, Switzerland.; Horber V; Department of Paediatric Neurology, University Children's Hospital, Tübingen, Germany.; Husain RA; Department of Neuropediatrics, Jena University Hospital, Jena, Germany.; Illsinger S; Clinic for Pediatric Kidney-, Liver-, Metabolic and Neurological Diseases, Hannover Medical School, Hannover, Germany.; Jacquier D; Pediatric Neurology and Neurorehabilitation unit, Woman-Mother-Child Department, Lausanne University Hospital, Lausanne, Switzerland.; Johannsen J; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Köhler C; Children's Hospital St Josef, University Hospital Ruhr-University Bochum, Bochum, Germany.; Kölbel H; Department of Pediatric Neurology, Centre for Neuromuscular Disorders, Center for Translational Neuro and Behavioral Sciences, University Duisburg-Essen, Essen, Germany.; Kolodzig M; Deutsche Muskelstiftung, Karlsruhe, Germany.; Klein A; Division of Neuropaediatrics, Development and Rehabilitation, Department of Paediatrics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.; Pechmann A; Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; von Moers A; Department of Pediatrics and Neuropediatrics, DRK Klinikum Westend, Berlin, Germany.; Müller-Felber W; Department of Paediatric Neurology and Developmental Medicine, Ludwig Maximilian University of Munich (LMU), Hauner Children's Hospital, Munich, Germany.; Rauscher C; Department of Pediatrics, Paracelsus Medical University, Salzburg, Austria.; Schara-Schmidt U; Department of Pediatric Neurology, Centre for Neuromuscular Disorders, Center for Translational Neuro and Behavioral Sciences, University Duisburg-Essen, Essen, Germany.; Schreiber G; Department of Pediatric Neurology, Klinikum Kassel, Kassel, Germany.; Schwartz O; Department of Pediatric Neurology, Muenster University Hospital, Münster, Germany.; Sproß J; German Society for Neuromuscular Diseases e.V. (DGM), Freiburg, Germany.; Stettner GM; Neuromuscular Center Zürich and Department of Pediatric Neurology, University Children's Hospital, University of Zurich, Zürich, Switzerland.; Stoltenburg C; Department of Pediatric Neurology, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany.; Stumpe E; SMA Europe e. V., Freiburg, Germany.; Trollmann R; Department of Pediatrics, Division of Pediatric Neurology, Friedrich-Alexander University of Erlangen-Nürnberg, Erlangen, Germany.; Wiegand G; Department of Pediatrics, Division of Neuropediatrics, Asklepios Klinik Hamburg Nord-Heidberg, Hamburg, Germany.; Wilichowski E; Department of Pediatrics and Adolescent Medicine, University Medical Center Göttingen, Göttingen, Germany.; Kirschner J; Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Ziegler A; Medical Faculty Heidelberg, Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg University, Heidelberg, Germany.

Publisher: SAGE Publications Country of Publication: United States NLM ID: 101649948 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2214-3602 (Electronic) Linking ISSN: 22143599 NLM ISO Abbreviation: J Neuromuscul Dis Subsets: MEDLINE

Enzmann, Cornelia; Steiner, Leonie; Pospieszny, Katarzyna; Zweier, Christiane; Plattner, Kevin; Baumann, Dominique; Henzi, Bettina; Galiart, Elea; Fink, Mirjam; Jacquier, David; Stettner, Georg M; Ripellino, Paolo; Fluss, Joel Victor; Klein, Andrea; Swiss-Reg-NMD Group

J Neuromuscul Dis
Journal of neuromuscular diseases, vol. 11, no. 5, pp. 1021-1033

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

Nashabat M; Laboratory of Functional Genomics, Department of Medical Genetics, Koç University, School of Medicine (KUSoM), Istanbul, Turkey.; Nabavizadeh N; Laboratory of Functional Genomics, Department of Medical Genetics, Koç University, School of Medicine (KUSoM), Istanbul, Turkey.; Saraçoğlu HP; Laboratory of Functional Genomics, Department of Medical Genetics, Koç University, School of Medicine (KUSoM), Istanbul, Turkey.; Sarıbaş B; Laboratory of Functional Genomics, Department of Medical Genetics, Koç University, School of Medicine (KUSoM), Istanbul, Turkey.; Avcı Ş; Diagnostic Center for Genetic Diseases, Department of Medical Genetics, Koç University Hospital, Istanbul, Turkey.; Börklü E; Diagnostic Center for Genetic Diseases, Department of Medical Genetics, Koç University Hospital, Istanbul, Turkey.; Beillard E; Department of Biopathology, Centre Léon Bérard, Lyon, France.; Yılmaz E; Laboratory of Functional Genomics, Department of Medical Genetics, Koç University, School of Medicine (KUSoM), Istanbul, Turkey.; Uygur SE; Laboratory of Functional Genomics, Department of Medical Genetics, Koç University, School of Medicine (KUSoM), Istanbul, Turkey.; Kayhan CK; Pathology Laboratory, Acıbadem Maslak Hospital, Istanbul, Turkey.; Department of Biotechnology, Nişantaşı University, Istanbul, Turkey.; Bosco L; Unit of Muscular and Neurodegenerative Disorders and Developmental Neurology, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Department of Science, University 'Roma Tre', Rome, Italy.; Eren ZB; Laboratory of Functional Genomics, Department of Medical Genetics, Koç University, School of Medicine (KUSoM), Istanbul, Turkey.; Steindl K; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland.; Richter MF; Department of Neonatology, Children's and Youth Hospital Auf der Bult, Hannover, Germany.; Bademci G; Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA.; Rauch A; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland.; Research Priority Program (URPP) ITINERARE: Innovative Therapies in Rare Diseases, University of Zurich, Zurich, Switzerland.; Neuroscience Center Zurich, University of Zurich and ETH Zurich, Zurich, Switzerland.; Fattahi Z; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.; Kariminejad-Najmabadi Pathology & Genetics Centre, Tehran, Iran.; Valentino ML; IRCCS Institute of Neurological Sciences of Bologna, Bologna, Italy.; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.; Connolly AM; Division of Neurology, Nationwide Children's Hospital, The Ohio State University College of Medicine, Columbus, OH, USA.; Bahr A; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland.; Viola L; Unit of Clinical Pediatrics, State Hospital, San Marino Republic, Italy.; Bergmann AK; Department of Human Genetics, Hannover Medical School, Hannover, Germany.; Rocha ME; CENTOGENE GmbH, Rostock, Germany.; Peart L; Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA.; Castro-Rojas DL; Genomics Laboratory, Center of Immunology and Genetics (CIGE), SURA Ayudas Diagnosticas, Medellín, Colombia.; Bültmann E; Institute of Diagnostic and Interventional Neuroradiology, Hannover Medical School, Hannover, Germany.; Khan S; CENTOGENE GmbH, Rostock, Germany.; Giarrana ML; Division of Sleep Medicine, University Children's Hospital Zurich, Zurich, Switzerland.; Teleanu RI; Dr Victor Gomoiu Children's Hospital, Bucharest, Romania.; Carol Davila University of Medicine and Pharmacy, Bucharest, Romania.; Gonzalez JM; Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA.; Pini A; Neuromuscular Pediatric Unit, IRCCS Institute of Neurological Sciences of Bologna, Bologna, Italy.; Schädlich IS; Department of Neurology, University Medical Center Hamburg-Eppendorf, Hamburg-Eppendorf, Germany.; 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, Munich, Germany.; Department of Human Genetics, Technical University of Munich, School of Medicine, Munich, Germany.; Brugger M; Department of Human Genetics, Technical University of Munich, School of Medicine, Munich, Germany.; Zuchner S; Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA.; John P. Hussmann Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.; Pinto A; CENTOGENE GmbH, Rostock, Germany.; Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Bivona SA; Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA.; Riza A; Human Genomics Laboratory, University of Medicine and Pharmacy, Craiova, Romania.; Regional Centre of Medical Genetics Dolj, County Clinical Emergency Hospital, Craiova, Romania.; Streata I; Human Genomics Laboratory, University of Medicine and Pharmacy, Craiova, Romania.; Regional Centre of Medical Genetics Dolj, County Clinical Emergency Hospital, Craiova, Romania.; Gläser D; Genetikum, Neu-Ulm, Germany.; Baquero-Montoya C; Pediatric department, Hospital Pablo Tobon Uribe, SURA Ayudas Diagnosticas, Medellín, Colombia.; Garcia-Restrepo N; Universidad de Manizales, Manizales, Caldas, Colombia.; Kotzaeridou U; Division of Child Neurology and Inherited Metabolic Diseases, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Brunet T; 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, Munich, Germany.; Department of Human Genetics, Technical University of Munich, School of Medicine, Munich, Germany.; Epure DA; Dr Victor Gomoiu Children's Hospital, Bucharest, Romania.; Bertoli-Avella A; CENTOGENE GmbH, Rostock, Germany.; Kariminejad A; Kariminejad-Najmabadi Pathology & Genetics Centre, Tehran, Iran.; Tekin M; Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA.; John P. Hussmann Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.; von Hardenberg S; Department of Human Genetics, Hannover Medical School, Hannover, Germany.; Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Stettner GM; Neuromuscular Center Zurich and Department of Pediatric Neurology, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland.; Zanni G; Unit of Muscular and Neurodegenerative Disorders and Developmental Neurology, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Kayserili H; Diagnostic Center for Genetic Diseases, Department of Medical Genetics, Koç University Hospital, Istanbul, Turkey.; Department of Medical Genetics, Koç University School of Medicine (KUSoM), Istanbul, Turkey.; Oflazer ZP; Department of Neurology, Koç University Hospital Muscle Center, Istanbul, Turkey.; Escande-Beillard N; Laboratory of Functional Genomics, Department of Medical Genetics, Koç University, School of Medicine (KUSoM), Istanbul, Turkey. nbeillard@ku.edu.tr.; Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine (KUSoM), Istanbul, Turkey. nbeillard@ku.edu.tr.

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

Nashabat, Marwan; Nabavizadeh, Nasrinsadat; Saraçoğlu, Hilal Pırıl; Sarıbaş, Burak; Avcı, Şahin; Börklü, Esra; Beillard, Emmanuel; Yılmaz, Elanur; Uygur, Seyide Ecesu; Kayhan, Cavit Kerem; Bosco, Luca; Eren, Zeynep Bengi; Steindl, Katharina; Richter, Manuela Friederike; Bademci, Guney; Rauch, Anita; Fattahi, Zohreh; Valentino, Maria Lucia; Connolly, Anne M; Bahr, Angela; Viola, Laura; Bergmann, Anke Katharina; Rocha, Maria Eugenia; Peart, LeShon; Castro-Rojas, Derly Liseth; Bültmann, Eva; Khan, Suliman; Giarrana, Miriam Liliana; Teleanu, Raluca Ioana; Stettner, Georg M; et al

Syrbe, Steffen; Stettner, Georg M; Bally, Julien; Borggraefe, Ingo; Bien, Corinna I; Ferfoglia, Ruxandra Iancu; Huppke, Peter; Kern, Jan; Polster, Tilman; Probst-Müller, Elisabeth; Schmid, Silvia; Steinfeld, Robert; Strozzi, Susi; Weichselbaum, Annette; Weitz, Marcus; Ziegler, Andreas; Wandinger, Klaus-Peter; Leypoldt, Frank; Bien, Christian G

Neurology. 6/2/2020, Vol. 94 Issue 22, pe2290-e2301. 12p.

Gruebner O; Department of Geography, University of Zurich, Zurich, Switzerland.; Department of Epidemiology, Epidemiology, Biostatistics, and Prevention Institute, University of Zurich, Zurich, Switzerland.; van Haasteren A; Institute of Public Health, Università della Svizzera italiana, Lugano, Switzerland.; Hug A; Department of Geography, University of Zurich, Zurich, Switzerland.; Elayan S; Centre for Information Management, School of Business and Economics, Loughborough University, Loughborough, UK.; Sykora M; Centre for Information Management, School of Business and Economics, Loughborough University, Loughborough, UK.; Albanese E; Institute of Public Health, Università della Svizzera italiana, Lugano, Switzerland.; Stettner GM; Neuromuscular Center Zurich and Department of Pediatric Neurology, University of Zurich, University Children's Hospital Zurich, Zurich, Switzerland.; Waldboth V; Institute of Nursing, School of Health Sciences, Zurich University of Applied Sciences, Winterthur, Switzerland.; Messmer-Khosla S; Schweizerische Muskelgesellschaft, Zurich, Switzerland.; Enzmann C; Department of Neuropediatrics, Neuromuscular Center, University Children's Hospital Basel, Basel, Switzerland.; Baumann D; Swiss Registry for Neuromuscular Disorders (Swiss-Reg-NMD), Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland.; von Wyl V; Department of Epidemiology, Epidemiology, Biostatistics, and Prevention Institute, University of Zurich, Zurich, Switzerland.; Fadda M; Institute of Public Health, Università della Svizzera italiana, Lugano, Switzerland.; Wolf M; Department of Psychology, University of Zurich, Zurich, Switzerland.; von Rhein M; Child Development Center, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland.

Publisher: SAGE Publications Ltd Country of Publication: United States NLM ID: 101690863 Publication Model: eCollection Cited Medium: Print ISSN: 2055-2076 (Print) Linking ISSN: 20552076 NLM ISO Abbreviation: Digit Health Subsets: PubMed not MEDLINE

Rüsch, Christina T; Wortmann, Saskia B; Kovacs-Nagy, Reka; Grehten, Patrice; Häberle, Johannes; Latal, Beatrice; Stettner, Georg M

Neuropediatrics. 52:126-132

Rüsch, Christina T; Sturz, Miriam; Galiart, Elea; Meyer Sauteur, Patrick M; Soomann, Maarja; Trück, Johannes; Stettner, Georg M

Swiss Medical Weekly, Vol 154, Iss 10 (2024)

Stettner, Georg M; Hasselmann, Oswald; Tscherter, Anne; Galiart, Elea; Jacquier, David; Klein, Andrea

BMC Neurol
BMC Neurology, Vol 23, Iss 1, Pp 1-10 (2023)
BMC neurology, vol. 23, no. 1, pp. 88
Stettner, Georg M; Hasselmann, Oswald; Tscherter, Anne; Galiart, Elea; Jacquier, David; Klein, Andrea (2023). Treatment of spinal muscular atrophy with Onasemnogene Abeparvovec in Switzerland: a prospective observational case series study. BMC neurology, 23(1), p. 88. BioMed Central 10.1186/s12883-023-03133-6

Weiß C; Charité-Universitätsmedizin Berlin, Department of Pediatric Neurology, Augustenburger Platz 1, Berlin 13353, Germany.; Charité-Universitätsmedizin Berlin, Center for Chronically Sick Children, Augustenburger Platz 1, Berlin 13353, Germany.; Department of Child Neurology, University Hospital Bonn, Venusberg-Campus 1, Bonn 53127, Germany.; Becker LL; Charité-Universitätsmedizin Berlin, Department of Pediatric Neurology, Augustenburger Platz 1, Berlin 13353, Germany.; Charité-Universitätsmedizin Berlin, Center for Chronically Sick Children, Augustenburger Platz 1, Berlin 13353, Germany.; Charité-Universitätsmedizin Berlin, Institute of Cell Biology and Neurobiology, Augustenburger Platz 1, Berlin 13353, Germany.; Department of Child Neurology, University Hospital Bonn, Venusberg-Campus 1, Bonn 53127, Germany.; Department of Pediatric Neurology and Developmental Medicine, Ludwig Maximilian University of Munich (LMU), Hauner Children's Hospital, Lindwurmstr. 4, Munich 80337, Germany.; Friese J; Charité-Universitätsmedizin Berlin, Center for Chronically Sick Children, Augustenburger Platz 1, Berlin 13353, Germany.; Department of Child Neurology, University Hospital Bonn, Venusberg-Campus 1, Bonn 53127, Germany.; Blaschek A; Charité-Universitätsmedizin Berlin, Institute of Cell Biology and Neurobiology, Augustenburger Platz 1, Berlin 13353, Germany.; Department of Pediatric Neurology and Developmental Medicine, Ludwig Maximilian University of Munich (LMU), Hauner Children's Hospital, Lindwurmstr. 4, Munich 80337, Germany.; Hahn A; Department of Child Neurology, University Hospital, Rudolf-Buchheim-Str. 8, Gießen 35392, Germany.; Illsinger S; Clinic for Pediatric Kidney-, Liver- and Metabolic Diseases, Hannover Medical School, Carl-Neuberg Str. 1, Hannover 30625, Germany.; Schwartz O; Department of Pediatric Neurology, University Hospital, Albert-Schweitzer-Strasse 33, Münster, Germany.; Bernert G; Department of Pediatrics, Klinik Favoriten, Kundratstr. 3, Vienna 1100, Austria.; Hagen MV; Department of Neuropediatrics, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Fetscherstr. 74, Dresden 01307, Germany.; Husain RA; Department of Neuropediatrics, Jena University Hospital, Bachstr. 18, Jena 07743, Germany.; Goldhahn K; Department of Pediatrics and Neuropediatrics, DRK Klinikum Westend, Spandauer Damm 130, Berlin 14050, Germany.; Kirschner J; Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Heiliggeist-Str. 1, Freiburg 79106, Germany.; Pechmann A; Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Heiliggeist-Str. 1, Freiburg 79106, Germany.; Flotats-Bastardas M; University Hospital Homburg, Department of Pediatric Neurology, Kirrberger Str. 100, Homburg 66421, Germany.; Schreiber G; Klinikum Kassel, Department of Pediatric Neurology, Mönchebergstr. 41-43, Kassel 34125, Germany.; Schara U; Department of Pediatric Neurology, Centre for Neuromuscular Disorders, Center for Translational Neuro and Behavioral Sciences, University Duisburg-Essen, Germany.; Plecko B; Department of Pediatrics and Adolescent Medicine, Division of General Pediatrics, Medical University Graz, Auenbruggerplatz 2, Graz 8036, Austria.; Trollmann R; Department of Pediatrics, Division of Pediatric Neurology, Friedrich-Alexander University of Erlangen-Nürnberg, Maximiliansplatz 2, Erlangen 91054, Germany.; Horber V; Department of Pediatric Neurology, University Children's Hospital, Hoppe-Seyler-Str. 1, Tübingen 72076, Germany.; Wilichowski E; Department of Paediatrics and Adolescent Medicine, Division of Paediatric Neurology, University Medical Centre Göttingen, Georg August University Göttingen, Germany.; Baumann M; Department of Pediatrics I, Division of Pediatric Neurology, Medical University Innsbruck, Innsbruck, Austria.; Klein A; Division of Neuropediatrics, Development and Rehabilitation, Department of Pediatrics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.; Eisenkölbl A; Department of Paediatrics and Adolescent Medicine, Johannes Kepler University Linz, Kepler University Hospital, Krankenhausstrasse 26-30, Linz 4020, Austria.; Köhler C; Bochum Department of Neuropediatrics, University Children's Hospital, Ruhr-University Bochum, Bochum, Germany.; Stettner GM; Neuromuscular Center Zurich and Department of Pediatric Neurology, University Children's Hospital Zurich, University of Zurich, Steinwiesstrasse 75, Zurich CH-8032, Switzerland.; Cirak S; Ulm University, Department of Pediatrics, Albert-Einstein-Allee 23, Ulm 89081, Germany.; Hasselmann O; Department of Neuropediatrics, Children's Hospital of Eastern Switzerland, St. Gallen, Switzerland.; Kaindl AM; Charité-Universitätsmedizin Berlin, Department of Pediatric Neurology, Augustenburger Platz 1, Berlin 13353, Germany.; Charité-Universitätsmedizin Berlin, Center for Chronically Sick Children, Augustenburger Platz 1, Berlin 13353, Germany.; Charité-Universitätsmedizin Berlin, Institute of Cell Biology and Neurobiology, Augustenburger Platz 1, Berlin 13353, Germany.; Department of Child Neurology, University Hospital Bonn, Venusberg-Campus 1, Bonn 53127, Germany.; Department of Pediatric Neurology and Developmental Medicine, Ludwig Maximilian University of Munich (LMU), Hauner Children's Hospital, Lindwurmstr. 4, Munich 80337, Germany.; Garbade SF; Heidelberg University, Medical Faculty Heidelberg, Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, Im Neuenheimer Feld 430, Heidelberg 69120, Germany.; Johannsen J; University Medical Center Hamburg-Eppendorf, Department of Pediatrics, Martinistr. 52, Hamburg 20246, Germany.; Ziegler A; Heidelberg University, Medical Faculty Heidelberg, Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, Im Neuenheimer Feld 430, Heidelberg 69120, Germany.

Publisher: [Oxford] Country of Publication: England NLM ID: 101777707 Publication Model: eCollection Cited Medium: Internet ISSN: 2666-7762 (Electronic) Linking ISSN: 26667762 NLM ISO Abbreviation: Lancet Reg Health Eur Subsets: PubMed not MEDLINE

Steiner, Leonie; Tscherter, Anne; Henzi, Bettina; Branca, Mattia; Carda, Stefano; Enzmann, Cornelia; Fluss, Joel; Jacquier, David; Neuwirth, Christoph; Ripellino, Paolo; Scheidegger, Olivier; Schlaeger, Regina; Schreiner, Bettina; Stettner, Georg M; Klein, Andrea; Swiss-Reg-NMD Group

J Clin Med
Journal of clinical medicine, vol. 13, no. 10
Steiner, Leonie; Tscherter, Anne; Henzi, Bettina; Branca, Mattia; Carda, Stefano; Enzmann, Cornelia; Fluss, Joël; Jacquier, David; Neuwirth, Christoph; Ripellino, Paolo; Scheidegger, Olivier; Schlaeger, Regina; Schreiner, Bettina; Stettner, Georg M.; Klein, Andrea (2024). Chronic Pain in Patients with Spinal Muscular Atrophy in Switzerland: A Query to the Spinal Muscular Atrophy Registry. Journal of clinical medicine, 13(10), p. 2798. MDPI 10.3390/jcm13102798

Stafki SA; Department of Neurology and Paul and Sheila Wellstone Muscular Dystrophy Center, University of Minnesota Medical School, Minneapolis, Minnesota.; Turner J; Department of Neurology and Paul and Sheila Wellstone Muscular Dystrophy Center, University of Minnesota Medical School, Minneapolis, Minnesota.; Littel HR; Department of Neurology and Paul and Sheila Wellstone Muscular Dystrophy Center, University of Minnesota Medical School, Minneapolis, Minnesota.; Bruels CC; Department of Neurology and Paul and Sheila Wellstone Muscular Dystrophy Center, University of Minnesota Medical School, Minneapolis, Minnesota.; Truong D; Department of Neurology and Paul and Sheila Wellstone Muscular Dystrophy Center, University of Minnesota Medical School, Minneapolis, Minnesota.; Knirsch U; Neuromuscular Center Zürich and Department of Pediatric Neurology, University Children's Hospital Zürich, University of Zürich, Zürich, Switzerland.; Stettner GM; Neuromuscular Center Zürich and Department of Pediatric Neurology, University Children's Hospital Zürich, University of Zürich, Zürich, Switzerland.; Graf U; Institute of Medical Molecular Genetics (IMMG), University of Zürich, Zürich, Switzerland.; Berger W; Institute of Medical Molecular Genetics (IMMG), University of Zürich, Zürich, Switzerland; Neuroscience Center Zurich (NCZ), University and ETH Zürich, Zürich, Switzerland; Zürich Center for Integrative Human Physiology (ZIHP), University of Zürich, Zürich, Switzerland.; Kinali M; Department of Brain Sciences, Imperial College London and Portland Hospital HCA International, London, United Kingdom.; Jungbluth H; Evelina Children's Hospital and King's College London, University of Manchester, London, United Kingdom.; Pacak CA; Department of Neurology and Paul and Sheila Wellstone Muscular Dystrophy Center, University of Minnesota Medical School, Minneapolis, Minnesota.; Hughes J; Amy and Friends Cockayne Syndrome/Trichothiodystrophy Support, Wirral, United Kingdom.; Mirchi A; Departments of Neurology and Neurosurgery and Pediatrics, McGill University, Montreal, Canada; Child Health and Human Development Program, Research Institute of the McGill University Health Center, Montreal, Canada.; Derksen A; Departments of Neurology and Neurosurgery and Pediatrics, McGill University, Montreal, Canada; Child Health and Human Development Program, Research Institute of the McGill University Health Center, Montreal, Canada.; Vincent-Delorme C; Department of Clinical Genetics, Hôpital Jeanne de Flandre, CHU Lille, Lille, France.; Theil AF; Department of Molecular Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.; Bernard G; Departments of Neurology and Neurosurgery and Pediatrics, McGill University, Montreal, Canada; Child Health and Human Development Program, Research Institute of the McGill University Health Center, Montreal, Canada; Department of Human Genetics, McGill University, Montreal, Canada; Division of Medical Genetics, Department Specialized Medicine, McGill University Health Center, Montreal, Canada.; Ellis D; South East Genomics Laboratory Hub, Guy's Hospital, London, United Kingdom.; Fassihi H; St. John's Institute of Dermatology, Rare Disease Centre, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom.; Lehmann AR; Genome Damage and Stability Centre, University of Sussex, Brighton, United Kingdom.; Laugel V; Service de Pédiatrie 1, Hôpital de Hautepierre, Hôpitaux Universitaires de Strasbourg, Strasbourg, France; Laboratoire de Génétique médicale, INSERM U1112, Institut de génétique médicale d'Alsace, Faculté de Médecine de Strasbourg, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; Mohammed S; South East Thames Regional Genetics Service and Rare Diseases Centre Guy's and St Thomas' NHS Foundation Trust, London, United Kingdom.; Kang PB; Department of Neurology and Paul and Sheila Wellstone Muscular Dystrophy Center, University of Minnesota Medical School, Minneapolis, Minnesota; Institute for Translational Neuroscience, University of Minnesota, Minneapolis, Minnesota. Electronic address: pkang@umn.edu.

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

Stendel, Claudia; Neuhofer, Christiane; Floride, Elisa; Yuqing, Shi; Ganetzky, Rebecca D; Park, Joohyun; Freisinger, Peter; Kornblum, Cornelia; Kleinle, Stephanie; Schöls, Ludger; Distelmaier, Felix; Stettner, Georg M; Büchner, Boriana; Falk, Marni J; Mayr, Johannes A; Synofzik, Matthis; Abicht, Angela; Haack, Tobias B; Prokisch, Holger; Wortmann, Saskia B; Murayama, Kei; Fang, Fang; Klopstock, Thomas

Neurol Genet

Annelies, Rotthier; Penno, Anke; Rautenstrauss, Bernd; Auer-Grumbach, Michalea; Stettner, Georg M; Asselbergh, Bob; van Hoof, Kim; Sticht, Heinrich; Lévy, Nicolas; Timmerman, Vincent; Hornemann, Thorsten; Janssens, Katrien

Human mutation

Dutschmann, Mathias; Menuet, Clement; Stettner, Georg M; Gestreau, Christian; Borghgraef, Peter; Devijver, Herman; Gielis, Lies; Hilaire, Gerard; van Leuven, Fred

The Journal of Neuroscience. 30:1810-1821

Huehne, Kathrin; Zweier, Christiane; Raab, Klaus; Odent, Sylvie; Bonnaure-Mallet, Martine; Sixou, Jean-Louis; Landrieu, Pierre; Goizet, Cyril; Sarlangue, Jean; Baumann, Matthias; Eggermann, Thomas; Rauch, Anita; Ruppert, Sinje; Stettner, Georg M; Rautenstrauss, Bernd

Neuromuscular Disorders. 18:159-166

Rüsch, Christina T; Knirsch, Ursula; Weber, Daniel M; Rohrbach, Marianne; Eichenberger, André; Lütschg, Jürg; Weber, Kirsten; Broser, Philip J; Stettner, Georg M

Children (Basel)
Children, Vol 8, Iss 8, p 624 (2021)
Children
Volume 8
Issue 8