부산대학교 도서관

Aleo SJ; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy; Departments of Pharmacy and Biotechnology, University of Bologna, Bologna, Italy.; Del Dotto V; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.; Romagnoli M; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy.; Fiorini C; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy.; Capirossi G; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.; Peron C; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy.; Maresca A; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy.; Caporali L; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.; Capristo M; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy.; Tropeano CV; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy.; Zanna C; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.; Ross-Cisneros FN; Doheny Eye Institute, Pasadena, CA, USA.; Sadun AA; Doheny Eye Institute, Pasadena, CA, USA; Department of Ophthalmology, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA.; Pignataro MG; Departments of Radiology, Oncology, and Pathology, Sapienza, University of Rome, Rome, Italy.; Giordano C; Departments of Radiology, Oncology, and Pathology, Sapienza, University of Rome, Rome, Italy.; Fasano C; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy.; Cavaliere A; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy.; Porcelli AM; Departments of Pharmacy and Biotechnology, University of Bologna, Bologna, Italy.; Tioli G; Departments of Pharmacy and Biotechnology, University of Bologna, Bologna, Italy.; Musiani F; Departments of Pharmacy and Biotechnology, University of Bologna, Bologna, Italy.; Catania A; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy.; Lamperti C; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy.; Marzoli SB; Neuro-Ophthalmology Center and Ocular Electrophysiology Laboratory, IRCCS Istituto Auxologico Italiano, Capitanio Hospital, Milan, Italy.; De Negri A; Azienda Ospedaliera San Camillo-Forlanini, Roma, Italy.; Cascavilla ML; Scientific Institute San Raffaele, Milan, Italy.; Battista M; Scientific Institute San Raffaele, Milan, Italy.; Barboni P; Scientific Institute San Raffaele, Milan, Italy.; Carbonelli M; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.; Amore G; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.; La Morgia C; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.; Smirnov D; Institute of Human Genetics, School of Medicine, Technische Universität München, Munich, Germany; Institute of Neurogenomics, Computational Health Center, Helmholtz Zentrum München, Munich, Germany.; Vasilescu C; Institute of Human Genetics, School of Medicine, Technische Universität München, Munich, Germany; Institute of Neurogenomics, Computational Health Center, Helmholtz Zentrum München, Munich, Germany.; Farzeen A; Institute of Human Genetics, School of Medicine, Technische Universität München, Munich, Germany; Institute of Neurogenomics, Computational Health Center, Helmholtz Zentrum München, Munich, Germany.; Blickhaeuser B; Institute of Human Genetics, School of Medicine, Technische Universität München, Munich, Germany; Institute of Neurogenomics, Computational Health Center, Helmholtz Zentrum München, Munich, Germany.; Prokisch H; Institute of Human Genetics, School of Medicine, Technische Universität München, Munich, Germany; Institute of Neurogenomics, Computational Health Center, Helmholtz Zentrum München, Munich, Germany.; Priglinger C; Department of Ophthalmology, LMU University Hospital, LMU Munich, Munich, Germany.; Livonius B; Department of Ophthalmology, LMU University Hospital, LMU Munich, Munich, Germany.; Catarino CB; Department of Neurology, Friedrich Baur Institute, LMU Klinikum, University Hospital of the Ludwig-Maximilians-Universität München, Munich, Germany.; Klopstock T; Department of Neurology, Friedrich Baur Institute, LMU Klinikum, University Hospital of the Ludwig-Maximilians-Universität München, Munich, Germany; Munich Cluster for Systems Neurology (SyNergy), Munich, Germany; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany.; Tiranti V; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy.; Carelli V; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy. Electronic address: valerio.carelli@unibo.it.; Ghelli AM; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy; Departments of Pharmacy and Biotechnology, University of Bologna, Bologna, Italy. Electronic address: annamaria.ghelli@unibo.it.

Publisher: Cell Press Country of Publication: United States NLM ID: 101766894 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2666-3791 (Electronic) Linking ISSN: 26663791 NLM ISO Abbreviation: Cell Rep Med Subsets: MEDLINE

Catarino CB; Department of Neurology (CBC, TK), Friedrich-Baur-Institute, University Hospital of the Ludwig-Maximilians-University, Munich, Germany; German Center for Neurodegenerative Diseases (DZNE) (TK), Munich, Germany; Department of Ophthalmology (BL, CP, GR), University Hospital of the Ludwig-Maximilians-University Munich, Munich, Germany; Department of Ophthalmology (KL), University Hospital and University of Zurich, Zurich, Switzerland; Emory University School of Medicine (NJN), Atlanta, Georgia; and School of Optometry and Vision Sciences (MV), Cardiff University, Cardiff, United Kingdom.; von Livonius B; Priglinger C; Landau K; Newman NJ; Votruba M; Rudolph G; Klopstock T

Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 9431308 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1536-5166 (Electronic) Linking ISSN: 10708022 NLM ISO Abbreviation: J Neuroophthalmol Subsets: MEDLINE

Zibold J; Department of Neurology, Friedrich-Baur Institute, University Hospital, Ludwig-Maximilian University (LMU) Munich, Ziemssenstr. 1a, 80336, Munich, Germany.; von Livonius B; Department of Ophthalmology, University Hospital, Ludwig-Maximilian University (LMU) Munich, Munich, Germany.; Kolarova H; Department of Neurology, Friedrich-Baur Institute, University Hospital, Ludwig-Maximilian University (LMU) Munich, Ziemssenstr. 1a, 80336, Munich, Germany.; Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.; Rudolph G; Department of Ophthalmology, University Hospital, Ludwig-Maximilian University (LMU) Munich, Munich, Germany.; Priglinger CS; Department of Ophthalmology, University Hospital, Ludwig-Maximilian University (LMU) Munich, Munich, Germany.; Klopstock T; Department of Neurology, Friedrich-Baur Institute, University Hospital, Ludwig-Maximilian University (LMU) Munich, Ziemssenstr. 1a, 80336, Munich, Germany.; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany.; Munich Cluster for Systems Neurology (SyNergy), Munich, Germany.; Catarino CB; Department of Neurology, Friedrich-Baur Institute, University Hospital, Ludwig-Maximilian University (LMU) Munich, Ziemssenstr. 1a, 80336, Munich, Germany. claudia.catarino@med.uni-muenchen.de.

Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

Alves CAPF; From the Division of Neuroradiology (C.A.P.F.A.) alvesc@chop.edu.; Sherbini O; Department of Neurology (O.S., A.V.), Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.; D'Arco F; Departments of Radiology (F.D.).; Steel D; Neurology (D.S., M.A.K.), Great Ormond Street Hospital for Children, London, UK.; Molecular Neurosciences (D.S., M.A.K.), Zayed Centre for Research into Rare Diseases in Children, UCL GOS-Institute of Child Health, London, UK.; Kurian MA; Neurology (D.S., M.A.K.), Great Ormond Street Hospital for Children, London, UK.; Molecular Neurosciences (D.S., M.A.K.), Zayed Centre for Research into Rare Diseases in Children, UCL GOS-Institute of Child Health, London, UK.; Radio FC; Genetics and Rare Diseases Research Division (F.C.R., M.T.), Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.; Ferrero GB; Department of Public Health and Pediatrics (G.B.F., D.C.),University of Torino, Turin, Italy.; Carli D; Department of Public Health and Pediatrics (G.B.F., D.C.),University of Torino, Turin, Italy.; Tartaglia M; Genetics and Rare Diseases Research Division (F.C.R., M.T.), Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.; Balci TB; MedicalGenetics Programof Southwestern Ontario (T.B.B.), London Health Sciences Centre, London, Ontario, Canada.; Department of Paediatrics (T.B.B.),Western University, London, Ontario, Canada.; Powell-Hamilton NN; Division of Medical Genetics (N.N.P.-H.), Nemours Childrenșs Hospital, Wilmington, Delaware.; Schrier Vergano SA; Division of Medical Genetics and Metabolism (S.A.S.V.), Childrenșs Hospital of The Kingșs Daughters, Norfolk, Virginia.; Department of Pediatrics (S.A.S.V.), Eastern Virginia Medical School, Norfolk, Virginia.; Reutter H; Division of Neonatology and Pediatric Intensive Care (H.R.), Department of Pediatrics and Adolescent Medicine, Friedrich-Alexander University Nürnberg-Erlangen, Erlangen, Germany.; Hoefele J; Institute of Human Genetics (J.H., R.G.).; Günthner R; Institute of Human Genetics (J.H., R.G.).; Department of Nephrology (R.G.), Klinikum rechts der Isar, Technical University of Munich, School of Medicine, Munich, Germany.; Roeder ER; Department of Pediatrics and Molecular and Human Genetics (E.R.R., R.O.L.), Baylor College of Medicine, San Antonio, Texas.; Littlejohn RO; Department of Pediatrics and Molecular and Human Genetics (E.R.R., R.O.L.), Baylor College of Medicine, San Antonio, Texas.; Lessel D; Institute of Human Genetics (D.L., S.L.), University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Lüttgen S; Institute of Human Genetics (D.L., S.L.), University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Kentros C; Division of Clinical Genetics (C.K., K.A.-Y.), Department of Pediatrics, Columbia University Vagelos College of Physicians and Surgeons and New York-Presbyterian, New York, New York.; Anyane-Yeboa K; Division of Clinical Genetics (C.K., K.A.-Y.), Department of Pediatrics, Columbia University Vagelos College of Physicians and Surgeons and New York-Presbyterian, New York, New York.; Catarino CB; Friedrich-Baur-Institute (C.B.C., T.K.), Department of Neurology, University Hospital, Ludwig-Maximilian University Munich, Munich, Germany.; Mercimek-Andrews S; Department of Medical Genetics (S.M.-A.), Faculty of Medicine & Dentistry, University of Alberta, Edmonton, Alberta, Canada.; Department of Medical Genetics (S.M.-A.), The Hospital for Sick Children, Toronto, Ontario, Canada.; Denecke J; Department of Pediatrics (J.D.), University Medical Center Eppendorf, Hamburg, Germany.; Lyons MJ; Greenwood Genetic Center (M.J.L.), Greenwood, South Carolina.; Klopstock T; Friedrich-Baur-Institute (C.B.C., T.K.), Department of Neurology, University Hospital, Ludwig-Maximilian University Munich, Munich, Germany.; German Center for Neurodegenerative Diseases (T.K.), Munich, Germany.; Munich Cluster for Systems Neurology (T.K.), Munich, Germany.; Bhoj EJ; Department of Radiology, Division of Human Genetics (E.J.B., L.B.).; Bryant L; Department of Radiology, Division of Human Genetics (E.J.B., L.B.).; Vanderver A; Department of Pediatrics, and Division of Neurology (A.V.), Department of Pediatrics, Childrenșs Hospital of Philadelphia, Philadelphia, Pennsylvania.; Department of Neurology (O.S., A.V.), Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.

Publisher: American Society of Neuroradiology Country of Publication: United States NLM ID: 8003708 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1936-959X (Electronic) Linking ISSN: 01956108 NLM ISO Abbreviation: AJNR Am J Neuroradiol Subsets: MEDLINE

Stenton SL; Institute of Human Genetics, School of Medicine, Technische Universität München, München, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, München, Germany.; Tesarova M; Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Sheremet NL; Federal State Budgetary Institution of Science 'Research Institute of Eye Diseases', Moscow, Russia.; Catarino CB; Department of Neurology, Friedrich-Baur-Institute, University Hospital of the Ludwig-Maximilians-Universität München, Munich, Germany.; Carelli V; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogentica, Bologna, Italy.; Unit of Neurology, Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Italy.; Ciara E; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.; Curry K; Genetics and Metabolic Clinic, St. Luke's Health System, Boise, USA.; Engvall M; Centre for Inherited Metabolic Diseases (CMMS), Karolinska University Hospital, Stockholm, Sweden.; Fleming LR; Genetics and Metabolic Clinic, St. Luke's Health System, Boise, USA.; Freisinger P; Department of Paediatrics, Metabolic Disease Center, Klinikum Reutlingen, Reutlingen, Germany.; Iwanicka-Pronicka K; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.; Department of Audiology and Phoniatrics, The Children's Memorial Health Institute, Warsaw, Poland.; Jurkiewicz E; Department of Diagnostic Imaging, The Children's Memorial Health Institute, Warsaw, Poland.; Klopstock T; Department of Neurology, Friedrich-Baur-Institute, University Hospital of the Ludwig-Maximilians-Universität München, Munich, Germany.; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany.; Munich Cluster of Systems Neurology (SyNergy), Munich, Germany.; Koenig MK; Center for the Treatment of Pediatric Neurodegenerative Disease, The University of Texas McGovern Medical School at Houston, Houston, USA.; Kolářová H; Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Kousal B; Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Krylova T; Research Centre for Medical Genetics, Moscow, Russia.; La Morgia C; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogentica, Bologna, Italy.; Nosková L; Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Piekutowska-Abramczuk D; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.; Russo SN; Center for the Treatment of Pediatric Neurodegenerative Disease, The University of Texas McGovern Medical School at Houston, Houston, USA.; Stránecký V; Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Tóthová I; Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Träisk F; Department of Neuro-Ophthalmology, St Erik Eye Hospital, Stockholm, Sweden.; Prokisch H; Institute of Human Genetics, School of Medicine, Technische Universität München, München, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, München, Germany.

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

Liu JY; Thom M; Catarino CB; Martinian L; Figarella-Branger D; Bartolomei F; Koepp M; Sisodiya SM; Liu, Joan Y W; Thom, Maria; Catarino, Claudia B; Martinian, Lillian; Figarella-Branger, Dominique; Bartolomei, Fabrice; Koepp, Matthias; Sisodiya, Sanjay M

Brain: A Journal of Neurology. Oct2012, Vol. 135 Issue 10, p3115-3133. 19p.

Jüschke C; Human Genetics, Faculty of Medicine and Health Sciences, University of Oldenburg, 26129 Oldenburg, Germany.; Klopstock T; Friedrich-Baur Institute, Department of Neurology, University Hospital, LMU Munich, University of Munich, 80336 Munich, Germany.; German Center for Neurodegenerative Diseases (DZNE), 81377 Munich, Germany.; Munich Cluster for Systems Neurology (SyNergy), 81377 Munich, Germany.; Catarino CB; Friedrich-Baur Institute, Department of Neurology, University Hospital, LMU Munich, University of Munich, 80336 Munich, Germany.; Owczarek-Lipska M; Human Genetics, Faculty of Medicine and Health Sciences, University of Oldenburg, 26129 Oldenburg, Germany.; Research Center Neurosensory Science, University of Oldenburg, 26129 Oldenburg, Germany.; Wissinger B; Institute for Ophthalmic Research, Center for Ophthalmology, University of Tübingen, 72076 Tübingen, Germany.; Neidhardt J; Human Genetics, Faculty of Medicine and Health Sciences, University of Oldenburg, 26129 Oldenburg, Germany.; Research Center Neurosensory Science, University of Oldenburg, 26129 Oldenburg, Germany.; Joint Research Training Group of the Faculty of Medicine and Health Sciences, University of Oldenburg, 26129 Oldenburg, Germany and University Medical Center Groningen, 9700 RB Groningen, the Netherlands.

Publisher: Cell Press Country of Publication: United States NLM ID: 101581621 Publication Model: eCollection Cited Medium: Print ISSN: 2162-2531 (Print) Linking ISSN: 21622531 NLM ISO Abbreviation: Mol Ther Nucleic Acids Subsets: PubMed not MEDLINE

Stenton SL; Institute of Human Genetics, School of Medicine, Technische Universität München, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Sheremet NL; Federal State Budgetary Institution of Science 'Research Institute of Eye Diseases,' Moscow, Russia.; Catarino CB; Department of Neurology, Friedrich-Baur-Institute, University Hospital of the Ludwig-Maximilians-Universität München, Munich, Germany.; Andreeva NA; Federal State Budgetary Institution of Science 'Research Institute of Eye Diseases,' Moscow, Russia.; Assouline Z; Fédération de Génétique et Institut Imagine, Université Paris Descartes, Hôpital Necker Enfants Malades, Paris, France.; Barboni P; Scientific Institute San Raffaele, Milan, Italy.; Barel O; Genomics Unit, Sheba Cancer Research Center, Sheba Medical Center, Tel-Hashomer, Israel.; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.; Wohl Institute for Translational Medicine, Sheba Medical Center, Tel-Hashomer, Israel.; Berutti R; Institute of Human Genetics, School of Medicine, Technische Universität München, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Bychkov I; Research Centre for Medical Genetics, Moscow, Russia.; Caporali L; IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.; Capristo M; IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.; Carbonelli M; IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.; Cascavilla ML; Scientific Institute San Raffaele, Milan, Italy.; Charbel Issa P; Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom.; Nuffield Laboratory of Ophthalmology, Department of Clinical Neurosciences, University of Oxford, Oxford, United Kingdom.; Freisinger P; Department of Pediatrics, Klinikum am Steinenberg, Reutlingen, Germany.; Gerber S; Laboratory Genetics in Ophthalmology (LGO), INSERM UMR1163 - Institute of Genetic Diseases, Imagine. Paris, France.; Ghezzi D; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.; Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.; Graf E; Institute of Human Genetics, School of Medicine, Technische Universität München, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Heidler J; Functional Proteomics, Medical School, Goethe University, Frankfurt am Main, Germany.; Hempel M; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Heon E; The Hospital for Sick Children, Department of Ophthalmology and Vision Sciences, The University of Toronto, Toronto, Canada.; Itkis YS; Research Centre for Medical Genetics, Moscow, Russia.; Javasky E; Genomics Unit, Sheba Cancer Research Center, Sheba Medical Center, Tel-Hashomer, Israel.; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.; Wohl Institute for Translational Medicine, Sheba Medical Center, Tel-Hashomer, Israel.; Kaplan J; Laboratory Genetics in Ophthalmology (LGO), INSERM UMR1163 - Institute of Genetic Diseases, Imagine. Paris, France.; Kopajtich R; Institute of Human Genetics, School of Medicine, Technische Universität München, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Kornblum C; Department of Neurology, University Hospital Bonn, Bonn, Germany.; Kovacs-Nagy R; Institute of Human Genetics, School of Medicine, Technische Universität München, Munich, Germany.; Department of Medical Chemistry, Molecular Biology and Pathobiochemistry, Semmelweis University, Budapest, Hungary.; Krylova TD; Research Centre for Medical Genetics, Moscow, Russia.; Kunz WS; Department of Experimental Epileptology and Cognition Research, University of Bonn, Bonn, Germany.; La Morgia C; IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.; Unit of Neurology, Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Bologna, Italy.; Lamperti C; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.; Ludwig C; Bavarian Center for Biomolecular Mass Spectrometry (BayBioMS), Technische Universität München, Munich, Germany.; Malacarne PF; Institute for Cardiovascular Physiology, Goethe-University Frankfurt, Frankfurt am Main, Germany.; Maresca A; IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.; Mayr JA; Department of Pediatrics, Salzburger Landeskliniken and Paracelsus Medical University Salzburg, Salzburg, Austria.; Meisterknecht J; Functional Proteomics, Medical School, Goethe University, Frankfurt am Main, Germany.; Nevinitsyna TA; Federal State Budgetary Institution of Science 'Research Institute of Eye Diseases,' Moscow, Russia.; Palombo F; IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.; Pode-Shakked B; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.; Institute for Rare Diseases.; Talpiot Medical Leadership Program, and.; Shmelkova MS; Federal State Budgetary Institution of Science 'Research Institute of Eye Diseases,' Moscow, Russia.; Strom TM; Institute of Human Genetics, School of Medicine, Technische Universität München, Munich, Germany.; Tagliavini F; IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.; Tzadok M; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.; Pediatric Neurology Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel.; van der Ven AT; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Vignal-Clermont C; Ophthalmology Department, Centre National d'Ophtalmologie des Qinze-Vingts, Paris, France.; Wagner M; Institute of Human Genetics, School of Medicine, Technische Universität München, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Zakharova EY; Research Centre for Medical Genetics, Moscow, Russia.; Zhorzholadze NV; Federal State Budgetary Institution of Science 'Research Institute of Eye Diseases,' Moscow, Russia.; Rozet JM; Laboratory Genetics in Ophthalmology (LGO), INSERM UMR1163 - Institute of Genetic Diseases, Imagine. Paris, France.; Carelli V; IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.; Unit of Neurology, Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Bologna, Italy.; Tsygankova PG; Research Centre for Medical Genetics, Moscow, Russia.; Klopstock T; Department of Neurology, Friedrich-Baur-Institute, University Hospital of the Ludwig-Maximilians-Universität München, Munich, Germany.; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany.; Munich Cluster of Systems Neurology (SyNergy), Munich, Germany.; Wittig I; Functional Proteomics, Medical School, Goethe University, Frankfurt am Main, Germany.; German Center for Cardiovascular Research (DZHK), Partner Site RheinMain, Frankfurt, Germany.; Prokisch H; Institute of Human Genetics, School of Medicine, Technische Universität München, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.

Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: Print Cited Medium: Internet ISSN: 1558-8238 (Electronic) Linking ISSN: 00219738 NLM ISO Abbreviation: J Clin Invest Subsets: MEDLINE

Rabenstein A; Department of Psychiatry and Psychotherapy, Ludwig-Maximilians University München, Nussbaumstr. 7, 80336, Munich, Germany. andrea.rabenstein@med.uni-muenchen.de.; Catarino CB; Department of Neurology, Friedrich-Baur Institute, Ludwig-Maximilians University München, Ziemssenstr. 1a, 80336, Munich, Germany.; Rampeltshammer V; Department of Psychiatry and Psychotherapy, Ludwig-Maximilians University München, Nussbaumstr. 7, 80336, Munich, Germany.; Schindler D; Department of Psychiatry and Psychotherapy, Ludwig-Maximilians University München, Nussbaumstr. 7, 80336, Munich, Germany.; Gallenmüller C; Department of Neurology, Friedrich-Baur Institute, Ludwig-Maximilians University München, Ziemssenstr. 1a, 80336, Munich, Germany.; Priglinger C; Department of Ophthalmology, Ludwig-Maximilians University München, 80336, Munich, Germany.; Pogarell O; Department of Psychiatry and Psychotherapy, Ludwig-Maximilians University München, Nussbaumstr. 7, 80336, Munich, Germany.; Rüther T; Department of Psychiatry and Psychotherapy, Ludwig-Maximilians University München, Nussbaumstr. 7, 80336, Munich, Germany.; Klopstock T; Department of Neurology, Friedrich-Baur Institute, Ludwig-Maximilians University München, Ziemssenstr. 1a, 80336, Munich, Germany. tklopsto@med.LMU.de.; Munich Cluster for Systems Neurology (SyNergy), Munich, Germany. tklopsto@med.LMU.de.; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany. tklopsto@med.LMU.de.

Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

Reinert MC; Division of Pediatric Neurology, Department of Pediatrics and Adolescent Medicine, University Medical Center Göttingen, Robert-Koch-Str. 40, 37075, Göttingen, Germany. marie-christine.reinert@med.uni-goettingen.de.; Pacheu-Grau D; Department of Cellular Biochemistry, University Medical Center Göttingen, Göttingen, Germany.; Catarino CB; Department of Neurology, Friedrich-Baur-Institute, University Hospital, LMU Munich, Munich, Germany.; Klopstock T; Department of Neurology, Friedrich-Baur-Institute, University Hospital, LMU Munich, Munich, Germany.; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany.; Munich Cluster for Systems Neurology (SyNergy), Munich, Germany.; Ohlenbusch A; Division of Pediatric Neurology, Department of Pediatrics and Adolescent Medicine, University Medical Center Göttingen, Robert-Koch-Str. 40, 37075, Göttingen, Germany.; Schittkowski M; Department of Ophthalmology, Section for Strabismus, Neuroophthalmology and Oculoplastics, University Medical Center Göttingen, Göttingen, Germany.; Wilichowski E; Division of Pediatric Neurology, Department of Pediatrics and Adolescent Medicine, University Medical Center Göttingen, Robert-Koch-Str. 40, 37075, Göttingen, Germany.; Rehling P; Department of Cellular Biochemistry, University Medical Center Göttingen, Göttingen, Germany.; Cluster of Excellence 'Multiscale Bioimaging: From Molecular Machines To Networks of Excitable Cells' (MBExC), University of Göttingen, Göttingen, Germany.; Max Planck Institute for Biophysical Chemistry, Göttingen, Germany.; Brockmann K; Interdisciplinary Pediatric Center for Children With Developmental Disabilities and Severe Chronic Disorders, University Medical Center Göttingen, Göttingen, Germany.

Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE