부산대학교 도서관

Stevelink R.; Campbell C.; Chen S.; Abou-Khalil B.; Adesoji O. M.; Afawi Z.; Amadori E.; Anderson A.; Anderson J.; Andrade D. M.; Annesi G.; Auce P.; Avbersek A.; Bahlo M.; Baker M. D.; Balagura G.; Balestrini S.; Barba C.; Barboza K.; Bartolomei F.; Bast T.; Baum L.; Baumgartner T.; Baykan B.; Bebek N.; Becker A. J.; Becker F.; Bennett C. A.; Berghuis B.; Berkovic S. F.; Beydoun A.; Bianchini C.; Bisulli F.; Blatt I.; Bobbili D. R.; Borggraefe I.; Bosselmann C.; Braatz V.; Bradfield J. P.; Brockmann K.; Brody L. C.; Buono R. J.; Busch R. M.; Caglayan H.; Campbell E.; Canafoglia L.; Canavati C.; Cascino G. D.; Castellotti B.; Catarino C. B.; Cavalleri G. L.; Cerrato F.; Chassoux F.; Cherny S. S.; Cheung C. -L.; Chinthapalli K.; Chou I. -J.; Chung S. -K.; Churchhouse C.; Clark P. O.; Cole A. J.; Compston A.; Coppola A.; Cosico M.; Cossette P.; Craig J. J.; Cusick C.; Daly M. J.; Davis L. K.; de Haan G. -J.; Delanty N.; Depondt C.; Derambure P.; Devinsky O.; Di Vito L.; Dlugos D. J.; Doccini V.; Doherty C. P.; El-Naggar H.; Elger C. E.; Ellis C. A.; Eriksson J. G.; Faucon A.; Feng Y. -C. A.; Ferguson L.; Ferraro T. N.; Ferri L.; Feucht M.; Fitzgerald M.; Fonferko-Shadrach B.; Fortunato F.; Franceschetti S.; Franke A.; French J. A.; Freri E.; Gagliardi M.; Gambardella A.; Geller E. B.; Giangregorio T.; Gjerstad L.; Glauser T.; Goldberg E.; Goldman A.; Granata T.; Greenberg D. A.; Guerrini R.; Gupta N.; Haas K. F.; Hakonarson H.; Hallmann K.; Hassanin E.; Hegde M.; Heinzen E. L.; Helbig I.; Hengsbach C.; Heyne H. O.; Hirose S.; Hirsch E.; Hjalgrim H.; Howrigan D. P.; Hucks D.; Hung P. -C.; Iacomino M.; Imbach L. L.; Inoue Y.; Ishii A.; Jamnadas-Khoda J.; Jehi L.; Johnson M. R.; Kalviainen R.; Kamatani Y.; Kanaan M.; Kanai M.; Kantanen A. -M.; Kara B.; Kariuki S. M.; Kasperaviciute D.; Kasteleijn-Nolst Trenite D.; Kato M.; Kegele J.; Kesim Y.; Khoueiry-Zgheib N.; King C.; Kirsch H. E.; Klein K. M.; Kluger G.; Knake S.; Knowlton R. C.; Koeleman B. P. C.; Korczyn A. D.; Koupparis A.; Kousiappa I.; Krause R.; Krenn M.; Krestel H.; Krey I.; Kunz W. S.; Kurki M. I.; Kurlemann G.; Kuzniecky R.; Kwan P.; Labate A.; Lacey A.; Lal D.; Landoulsi Z.; Lau Y. -L.; Lauxmann S.; Leech S. L.; Lehesjoki A. -E.; Lemke J. R.; Lerche H.; Lesca G.; Leu C.; Lewin N.; Lewis-Smith D.; Li G. H. -Y.; Li Q. S.; Licchetta L.; Lin K. -L.; Lindhout D.; Linnankivi T.; Lopes-Cendes I.; Lowenstein D. H.; Lui C. H. T.; Madia F.; Magnusson S.; Marson A. G.; May P.; McGraw C. M.; Mei D.; Mills J. L.; Minardi R.; Mirza N.; Moller R. S.; Molloy A. M.; Montomoli M.; Mostacci B.; Muccioli L.; Muhle H.; Muller-Schluter K.; Najm I. M.; Nasreddine W.; Neale B. M.; Neubauer B.; Newton C. R. J. C.; Nothen M. M.; Nothnagel M.; Nurnberg P.; O'Brien T. J.; Okada Y.; Olafsson E.; Oliver K. L.; Ozkara C.; Palotie A.; Pangilinan F.; Papacostas S. S.; Parrini E.; Pato C. N.; Pato M. T.; Pendziwiat M.; Petrovski S.; Pickrell W. O.; Pinsky R.; Pippucci T.; Poduri A.; Pondrelli F.; Powell R. H. W.; Privitera M.; Rademacher A.; Radtke R.; Ragona F.; Rau S.; Rees M. I.; Regan B. M.; Reif P. S.; Rhelms S.; Riva A.; Rosenow F.; Ryvlin P.; Saarela A.; Sadleir L. G.; Sander J. W.; Sander T.; Scala M.; Scattergood T.; Schachter S. C.; Schankin C. J.; Scheffer I. E.; Schmitz B.; Schoch S.; Schubert-Bast S.; Schulze-Bonhage A.; Scudieri P.; Sham P.; Sheidley B. R.; Shih J. J.; Sills G. J.; Sisodiya S. M.; Smith M. C.; Smith P. E.; Sonsma A. C. M.; Speed D.; Sperling M. R.; Stefansson H.; Stefansson K.; Steinhoff B. J.; Stephani U.; Stewart W. C.; Stipa C.; Striano P.; Stroink H.; Strzelczyk A.; Surges R.; Suzuki T.; Tan K. M.; Taneja R. S.; Tanteles G. A.; Tauboll E.; Thio L. L.; Thomas G. N.; Thomas R. H.; Timonen O.; Tinuper P.; Todaro M.; Topaloglu P.; Tozzi R.; Tsai M. -H.; Tumiene B.; Turkdogan D.; Unnsteinsdottir U.; Utkus A.; Vaidiswaran P.; Valton L.; van Baalen A.; Vetro A.; Vining E. P. G.; Visscher F.; von Brauchitsch S.; von Wrede R.; Wagner R. G.; Weber Y. G.; Weckhuysen S.; Weisenberg J.; Weller M.; Widdess-Walsh P.; Wolff M.; Wolking S.; Wu D.; Yamakawa K.; Yang W.; Yapici Z.; Yucesan E.; Zagaglia S.; Zahnert F.; Zara F.; Zhou W.; Zimprich F.; Zsurka G.; Zulfiqar Ali Q.

Nat Genet
Nature genetics
(2023).
info:cnr-pdr/source/autori:R Stevelink; C Campbell; S Chen; B Abou-Khalil; O M Adesoji; Z Afawi; E Amadori; A Anderson; J Anderson; D M Andrade; G Annesi; P Auce; A Avbersek; M Bahlo; M D Baker; G Balagura; S Balestrini; International League Against Epilepsy Consortium on Complex Epilepsies:/titolo:GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture/doi:/rivista:Nature genetics (Print)/anno:2023/pagina_da:/pagina_a:/intervallo_pagine:/volume
Speed, D & International League Against Epilepsy Consortium on Complex Epilepsies 2023, 'GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture', Nature Genetics, vol. 55, no. 9, pp. 1471-1482. https://doi.org/10.1038/s41588-023-01485-w

Thormeyer, V.; Meyer, Z.; Polster, T.; Borggraefe, I.; Wallacher, B.; Korenke, G. C.; Catenoix, H.; Panagiotakaki, E.; Wolff, M.; Kluger, G.; Hartlieb, T.; Anke, B.; Leiz, S.; Abou Jamra, R.; Lesca, G.; Kaindl, A.; Schwarz, J. M.; Strehlow, V.; Stoeva, R.; Garde, A.; Faivre, L.; Racine, C.; Schlump, J. U.; Zacher, P.; Latour, P.; Panzer, A.

NEUROPEDIATRICS; NOV 19 2025, 10p.

Karnstedt M; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Perszyk RE; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, Georgia, USA.; Myers SJ; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, Georgia, USA.; Center for Functional Evaluation of Rare Variants, Emory University School of Medicine, Atlanta, Georgia, USA.; McDaniels E; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, Georgia, USA.; Center for Functional Evaluation of Rare Variants, Emory University School of Medicine, Atlanta, Georgia, USA.; Somorai M; Center for Rare Developmental Disorders, Technical University of Munich, kbo Children's Center Munich, Munich, Germany.; Borggraefe I; Division of Pediatric Neurology, Developmental Medicine, and Social Pediatrics, Department of Pediatrics, University Hospital Munich, Munich, Germany.; Veenma DCM; Department of Pediatrics, Erasmus MC Sophia Children's Hospital, Rotterdam, the Netherlands.; Schoonjans AS; Department of Pediatric Neurology, Antwerp University Hospital, Edegem, Belgium.; Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.; IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Fantaneanu TA; Department of Medicine, Ottawa Hospital, Ottawa Hospital Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Syrbe S; Division of Pediatric Epileptology, Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Park K; Departments of Pediatrics, Pharmacology, Neurology, and Otolaryngology, School of Medicine and Children's Hospital Colorado, University of Colorado, Boulder, Colorado, USA.; Chen W; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, Georgia, USA.; Yuan H; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, Georgia, USA.; Center for Functional Evaluation of Rare Variants, Emory University School of Medicine, Atlanta, Georgia, USA.; Traynelis SF; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, Georgia, USA.; Center for Functional Evaluation of Rare Variants, Emory University School of Medicine, Atlanta, Georgia, USA.; Center for Neurodegenerative Disease, Emory University School of Medicine, Atlanta, Georgia, USA.; Benke TA; Departments of Pediatrics, Pharmacology, Neurology, and Otolaryngology, School of Medicine and Children's Hospital Colorado, University of Colorado, Boulder, Colorado, 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.; Krey I; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.

Publisher: Blackwell Science Country of Publication: United States NLM ID: 2983306R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1528-1167 (Electronic) Linking ISSN: 00139580 NLM ISO Abbreviation: Epilepsia Subsets: MEDLINE

Stevelink, R; Campbell, C; Chen, S; Abou-Khalil, B; Adesoji, OM; Afawi, Z; Amadori, E; Anderson, A; Anderson, J; Andrade, DM; Annesi, G; Auce, P; Avbersek, A; Bahlo, M; Baker, MD; Balagura, G; Balestrini, S; Barba, C; Barboza, K; Bartolomei, F; Bast, T; Baum, L; Baumgartner, T; Baykan, B; Bebek, N; Becker, AJ; Becker, F; Bennett, CA; Berghuis, B; Berkovic, SF; Beydoun, A; Bianchini, C; Bisulli, F; Blatt, I; Bobbili, DR; Borggraefe, I; Bosselmann, C; Braatz, V; Bradfield, JP; Brockmann, K; Brody, LC; Buono, RJ; Busch, RM; Caglayan, H; Campbell, E; Canafoglia, L; Canavati, C; Cascino, GD; Castellotti, B; Catarino, CB; Cavalleri, GL; Cerrato, F; Chassoux, F; Cherny, SS; Cheung, CL; Chinthapalli, K; Chou, IJ; Chung, SK; Churchhouse, C; Clark, PO; Cole, AJ; Compston, A; Coppola, A; Cosico, M; Cossette, P; Craig, JJ; Cusick, C; Daly, MJ; Davis, LK; de Haan, GJ; Delanty, N; Depondt, C; Derambure, P; Devinsky, O; Di Vito, L; Dlugos, DJ; Doccini, V; Doherty, CP; El-Naggar, H; Elger, CE; Ellis, CA; Eriksson, JG; Faucon, A; Feng, YCA; Ferguson, L; Ferraro, TN; Ferri, L; Feucht, M; Fitzgerald, M; Fonferko-Shadrach, B; Fortunato, F; Franceschetti, S; Franke, A; French, JA; Freri, E; Gagliardi, M; Gambardella, A; Geller, EB; Giangregorio, T; Gjerstad, L; et, alia

Opitz R; Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University Hospital, Munich, Germany.; Gerstner M; Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University Hospital, Munich, Germany.; Mühe L; Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University Hospital, Munich, Germany.; Zaddach M; Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University Hospital, Munich, Germany.; Grosse L; Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University Hospital, Munich, Germany.; Vill K; Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University Hospital, Munich, Germany.; Bertsche A; Department of Neuropaediatrics, University Medicine Greifswald, Greifswald, Germany.; German Center for Child and Adolescent Health (DZKJ), Partner Site Greifswald/Rostock, Greifswald, Germany.; Borggraefe I; Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University Hospital, Munich, Germany.; Comprehensive Epilepsy Center, Ludwig-Maximilians-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

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

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

Abdallat, Mahmoud ; Ascencao, Laura Cassini ; Grünwald, Svetlana ; Wloch, Andreas ; Schrader, Christoph ; Groiss, Stefan J. ; Wojtecki, Lars ; Koy, A. ; Bockhorn, N. ; Kühn, A.A. ; Schneider, G.-H. ; Krause, P. ; Lauritsch, K. ; Witt, K. ; Paschen, S. ; Deuschl, G. ; Krauss, J.K. ; Saryyeva, A. ; Runge, J. ; Borggraefe, I. ; Mehrkens, J.H. ; Horn, A. ; Vesper, J. ; Schnitzler, A. ; Siegert, S. ; Freilinger, M. ; Eckenweiler, M. ; Coenen, V.A. ; Tadic, V. ; Voges, J. ; Pauls, K.A.M. ; Wirths, J. ; Timmermann, L. ; Hellmich, M.

In Brain Stimulation September-October 2019 12(5):1111-1120

Gasser, M.; Boonsimma, P.; Netbaramee, W.; Wechapinan, T.; Srichomthomg, C.; Ittiwut, C.; Krenn, M.; Zimprich, F.; Milenkovic, I.; Abicht, A.; Biskup, S.; Roser, T.; Shotelersuk, V.; Tacke, M.; Kuersten, M.; Wagner, M.; Borggraefe, I.; Suphapeetiporn, K.; von Stülpnagel, C.

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Gerstl, Lucia; Olivieri, M.; Heinen, F.; Bidlingmaier, C.; Schroeder, A. S.; Reiter, K.; Hoffmann, F.; Kurnik, K.; Liebig, T.; Trumm, C. G.; Haas, N. A.; Jakob, A.; Borggraefe, I.

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Kuersten, M. ; Tacke, M. ; Gerstl, L. ; Hoelz, H. ; Stülpnagel, C.v. ; Borggraefe, I.

In European Journal of Medical Genetics January 2020 63(1)

Blaschek, Astrid; Lohse, P.; Huss, K.; Borggraefe, I.; Mueller-Felber, W.; Heinen, F.; Hohlfeld, R.; Kümpfel, T.

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Mühe L; Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics Department of Pediatrics, Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University, Lindwurmstrasse 4, Munich 80337, Germany. Electronic address: lena.muehe@fau.de.; Kaufmann E; Department of Neurology, LMU University Hospital, LMU Munich, Munich, Germany; Comprehensive Epilepsy Center, Ludwig-Maximilians-University, Munich, Germany. Electronic address: Elisabeth.Kaufmann@med.uni-muenchen.de.; Landgraf MN; Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics Department of Pediatrics, Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University, Lindwurmstrasse 4, Munich 80337, Germany. Electronic address: Mirjam.Landgraf@med.uni-muenchen.de.; Tacke M; Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics Department of Pediatrics, Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University, Lindwurmstrasse 4, Munich 80337, Germany. Electronic address: Moritz.Tacke@med.uni-muenchen.de.; Makowski C; Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics Department of Pediatrics, Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University, Lindwurmstrasse 4, Munich 80337, Germany; Comprehensive Epilepsy Center, Ludwig-Maximilians-University, Munich, Germany. Electronic address: Christine.Makowski@med.uni-muenchen.de.; Zaddach M; Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics Department of Pediatrics, Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University, Lindwurmstrasse 4, Munich 80337, Germany. Electronic address: malin.zaddach@med.uni-muenchen.de.; Grosse L; Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics Department of Pediatrics, Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University, Lindwurmstrasse 4, Munich 80337, Germany. Electronic address: Leonie.Grosse@med.uni-muenchen.de.; Gerstner M; Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics Department of Pediatrics, Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University, Lindwurmstrasse 4, Munich 80337, Germany. Electronic address: M.Gerstner@campus.lmu.de.; Optiz R; Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics Department of Pediatrics, Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University, Lindwurmstrasse 4, Munich 80337, Germany. Electronic address: Robert.optitz@gmx.de.; Borggraefe I; Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics Department of Pediatrics, Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University, Lindwurmstrasse 4, Munich 80337, Germany; Comprehensive Epilepsy Center, Ludwig-Maximilians-University, Munich, Germany. Electronic address: Ingo.Borggraefe@med.uni-muenchen.de.

Publisher: Elsevier Science Publishers Country of Publication: Netherlands NLM ID: 8703089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1872-6844 (Electronic) Linking ISSN: 09201211 NLM ISO Abbreviation: Epilepsy Res Subsets: MEDLINE

Schmidt A; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Danyel M; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; BIH Charité Clinician Scientist Program, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany.; Grundmann K; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Brunet T; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany.; Klinkhammer H; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Institut für Medizinische Biometrie, Informatik und Epidemiologie, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Hsieh TC; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Engels H; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Peters S; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Knaus A; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Moosa S; Institute for Medical Genetics, Stellenbosch University, Cape Town, South Africa.; Averdunk L; Department of Pediatrics, University Hospital Düsseldorf, Düsseldorf, Germany.; Boschann F; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; BIH Charité Clinician Scientist Program, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany.; Sczakiel HL; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; BIH Charité Clinician Scientist Program, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany.; Schwartzmann S; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Mensah MA; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; BIH Charité Clinician Scientist Program, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany.; Pantel JT; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Institute for Human Genetics and Genomic Medicine, Medical Faculty, Uniklinik RWTH Aachen University, Aachen, Germany.; Holtgrewe M; Core Uni Bioinformatics, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany.; Bösch A; Department of Pediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Weiß C; Department of Pediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Weinhold N; Department of Pediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Suter AA; Department of Pediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Stoltenburg C; Department of Pediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Neugebauer J; Department of Pediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Kallinich T; Department of Pediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Kaindl AM; Department of Pediatric Neurology, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Center for Chronically Sick Children, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Institute of Cell and Neurobiology, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Holzhauer S; Department of Pediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Bührer C; Department of Pediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Bufler P; Department of Pediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Kornak U; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Ott CE; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Schülke M; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Nguyen HHP; Department of Human Genetics, Ruhr University Bochum, Bochum, Germany.; Hoffjan S; Department of Human Genetics, Ruhr University Bochum, Bochum, Germany.; Grasemann C; Department of Pediatrics Bochum and CeSER, Ruhr University Bochum, Bochum, Germany.; Rothoeft T; Department of Pediatrics Bochum and CeSER, Ruhr University Bochum, Bochum, Germany.; Brinkmann F; Department of Pediatrics Bochum and CeSER, Ruhr University Bochum, Bochum, Germany.; Matar N; Department of Pediatrics Bochum and CeSER, Ruhr University Bochum, Bochum, Germany.; Sivalingam S; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Perne C; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Mangold E; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Kreiss M; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Cremer K; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Betz RC; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Mücke M; Center for Rare Diseases, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Grigull L; Center for Rare Diseases, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Klockgether T; Department of Neurology, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Spier I; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Heimbach A; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Bender T; Center for Rare Diseases, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Brand F; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Stieber C; Center for Rare Diseases, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Morawiec AM; Center for Rare Diseases, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Karakostas P; Clinic for Internal Medicine III, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Schäfer VS; Clinic for Internal Medicine III, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Bernsen S; Center for Rare Diseases, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Weydt P; Department of Neurology, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Castro-Gomez S; Department of Neurology, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Aziz A; Department of Neurology, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Grobe-Einsler M; Department of Neurology, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Kimmich O; Department of Neurology, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Kobeleva X; Department of Neurology, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Önder D; Department of Neurology, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Lesmann H; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Kumar S; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Tacik P; Department of Neurology, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Bhasin MA; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Incardona P; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Lee-Kirsch MA; University Center for Rare Diseases, University Hospital Carl Gustav Carus, Dresden, Germany.; Department of Pediatrics, University Hospital Carl Gustav Carus, Dresden, Germany.; Berner R; University Center for Rare Diseases, University Hospital Carl Gustav Carus, Dresden, Germany.; Department of Pediatrics, University Hospital Carl Gustav Carus, Dresden, Germany.; Schuetz C; University Center for Rare Diseases, University Hospital Carl Gustav Carus, Dresden, Germany.; Department of Pediatrics, University Hospital Carl Gustav Carus, Dresden, Germany.; Körholz J; University Center for Rare Diseases, University Hospital Carl Gustav Carus, Dresden, Germany.; Department of Pediatrics, University Hospital Carl Gustav Carus, Dresden, Germany.; Kretschmer T; University Center for Rare Diseases, University Hospital Carl Gustav Carus, Dresden, Germany.; Department of Pediatrics, University Hospital Carl Gustav Carus, Dresden, Germany.; Di Donato N; University Center for Rare Diseases, University Hospital Carl Gustav Carus, Dresden, Germany.; Institute for Clinical Genetics, University Hospital Carl Gustav Carus, Dresden, Germany.; Schröck E; University Center for Rare Diseases, University Hospital Carl Gustav Carus, Dresden, Germany.; Institute for Clinical Genetics, University Hospital Carl Gustav Carus, Dresden, Germany.; Heinen A; University Center for Rare Diseases, University Hospital Carl Gustav Carus, Dresden, Germany.; Department of Pediatrics, University Hospital Carl Gustav Carus, Dresden, Germany.; Reuner U; University Center for Rare Diseases, University Hospital Carl Gustav Carus, Dresden, Germany.; Department of Neurology, University Hospital Carl Gustav Carus, Dresden, Germany.; Hanßke AM; University Center for Rare Diseases, University Hospital Carl Gustav Carus, Dresden, Germany.; Kaiser FJ; Institute of Human Genetics, University Hospital Essen, Essen, Germany.; Manka E; Department of Pediatrics II, University Hospital Essen, Essen, Germany.; Munteanu M; Institute of Human Genetics, University Hospital Essen, Essen, Germany.; Kuechler A; Institute of Human Genetics, University Hospital Essen, Essen, Germany.; Cordula K; Department of Pediatrics II, University Hospital Essen, Essen, Germany.; Hirtz R; Department of Pediatrics II, University Hospital Essen, Essen, Germany.; Schlapakow E; Department of Neurology, University Hospital Halle, Halle, Germany.; Schlein C; Institute of Human Genetics, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; Lisfeld J; Institute of Human Genetics, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; Kubisch C; Institute of Human Genetics, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; Martin Zeitz Center for Rare Diseases, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; Herget T; Institute of Human Genetics, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; Hempel M; Institute of Human Genetics, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; Martin Zeitz Center for Rare Diseases, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.; Weiler-Normann C; Martin Zeitz Center for Rare Diseases, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; I. Department of Medicine, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; Ullrich K; Martin Zeitz Center for Rare Diseases, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; Schramm C; Martin Zeitz Center for Rare Diseases, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; I. Department of Medicine, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; Rudolph C; Martin Zeitz Center for Rare Diseases, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; Rillig F; Martin Zeitz Center for Rare Diseases, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; Groffmann M; Martin Zeitz Center for Rare Diseases, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; Muntau A; Department of Pediatrics, University Hospital Hamburg-Eppendorf, Hamburg, Germany.; Tibelius A; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.; Schwaibold EMC; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.; Schaaf CP; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.; Zawada M; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.; Kaufmann L; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.; Hinderhofer K; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.; Okun PM; Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Kotzaeridou U; Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Hoffmann GF; Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Choukair D; Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Bettendorf M; Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Spielmann M; Institute of Human Genetics, University Hospital Schleswig-Holstein, Lübeck, Germany.; Ripke A; Center for Rare Diseases, University Hospital Schleswig-Holstein, Lübeck, Germany.; Pauly M; Department of Neurology, University Hospital Schleswig-Holstein, Lübeck, Germany.; Institute for Neurogenetics, University Hospital Schleswig-Holstein, Lübeck, Germany.; Münchau A; Center for Rare Diseases, University Hospital Schleswig-Holstein, Lübeck, Germany.; Institute of Systems Motor Science, University of Lübeck, Lübeck, Germany.; Lohmann K; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.; Hüning I; Institute of Human Genetics, University Hospital Schleswig-Holstein, Lübeck, Germany.; Hanker B; Institute of Human Genetics, University of Lübeck, Lübeck, Germany.; Bäumer T; Center for Rare Diseases, University Hospital Schleswig-Holstein, Lübeck, Germany.; Institute of Systems Motor Science, University of Lübeck, Lübeck, Germany.; Herzog R; Center for Rare Diseases, University Hospital Schleswig-Holstein, Lübeck, Germany.; Department of Neurology, University Hospital Schleswig-Holstein, Lübeck, Germany.; Hellenbroich Y; Department of Human Genetics, University Hospital Schleswig-Holstein, Lübeck, Germany.; Westphal DS; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany.; Strom T; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany.; Kovacs R; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany.; Riedhammer KM; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany.; Department of Nephrology, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany.; Mayerhanser K; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany.; Graf E; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany.; Brugger M; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany.; Hoefele J; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany.; Oexle K; Institute of Neurogenomics, Helmholtz Zentrum München, München, Germany.; Mirza-Schreiber N; 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Dr. von Hauner Children's Hospital, University Hospital Munich, München, Germany.; Müller-Felber W; Dr. von Hauner Children's Hospital, University Hospital Munich, München, Germany.; Kurth I; Institute for Human Genetics and Genomic Medicine, Medical Faculty, Uniklinik RWTH Aachen University, Aachen, Germany.; Elbracht M; Institute for Human Genetics and Genomic Medicine, Medical Faculty, Uniklinik RWTH Aachen University, Aachen, Germany.; Knopp C; Institute for Human Genetics and Genomic Medicine, Medical Faculty, Uniklinik RWTH Aachen University, Aachen, Germany.; Begemann M; Institute for Human Genetics and Genomic Medicine, Medical Faculty, Uniklinik RWTH Aachen University, Aachen, Germany.; Kraft F; Institute for Human Genetics and Genomic Medicine, Medical Faculty, Uniklinik RWTH Aachen University, Aachen, Germany.; Lemke JR; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Center for Rare Diseases, University of Leipzig Medical Center, Leipzig, Germany.; Hentschel J; 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Center for Rare Diseases, University of Tübingen, Tübingen, Germany.; Bevot A; Department of Pediatric Neurology and Developmental Medicine, University of Tübingen, Tübingen, Germany.; Kehrer C; Department of Pediatric Neurology and Developmental Medicine, University of Tübingen, Tübingen, Germany.; Kaiser N; Department of Pediatric Neurology and Developmental Medicine, University of Tübingen, Tübingen, Germany.; Turro E; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Horn D; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Grüters-Kieslich A; Berlin Centre for Rare Diseases, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Klein C; Dr. von Hauner Children's Hospital, University Hospital Munich, München, Germany.; Mundlos S; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Nöthen M; Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.; Riess O; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Meitinger T; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany.; Krude H; Berlin Centre for Rare Diseases, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Krawitz PM; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany. pkrawitz@uni-bonn.de.; Haack T; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Ehmke N; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.; BIH Charité Clinician Scientist Program, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany.; Wagner M; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, München, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, München, Germany.; Dr. von Hauner Children's Hospital, University Hospital Munich, München, Germany.

Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE; PubMed not MEDLINE

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