부산대학교 도서관

Dini G; Di Cara G; Ferrara P; Striano P; Verrotti A

Neuropsychiatric Disease and Treatment, Vol Volume 19, Pp 2013-2025 (2023)

Balagura G; Riva A; Marchese F; Verrotti A; Striano P

Neuropsychiatric Disease and Treatment, Vol Volume 16, Pp 369-379 (2020)

Saporito MAN; Vitaliti G; Pavone P; Di Stefano G; Striano P; Caraballo RH; Falsaperla R

Neuropsychiatric Disease and Treatment, Vol Volume 13, Pp 1435-1439 (2017)

Vari MS; Striano P

Pediatric Health, Medicine and Therapeutics, Vol 2014, Iss default, Pp 155-160 (2014)

Pigliasco F; Chromatography and Mass Spectrometry Section, Central Laboratory of Analysis, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Cafaro A; Chromatography and Mass Spectrometry Section, Central Laboratory of Analysis, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Barco S; Chromatography and Mass Spectrometry Section, Central Laboratory of Analysis, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Biondi M; Chromatography and Mass Spectrometry Section, Central Laboratory of Analysis, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Stella M; IRCCS Istituto Giannina Gaslini, Gaslini Trial Centre, Genova, Italy.; Pharmacology and Toxicology Unit, Department of Internal Medicine, University of Genoa, Genoa, Italy.; Mattioli F; Pharmacology and Toxicology Unit, Department of Internal Medicine, University of Genoa, Genoa, Italy.; Clinical Pharmacology Unit, Ente Ospedaliero Ospedali Galliera, Genoa, Italy.; Riva A; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.; de Grazia U; SSD Laboratory Medicine - SMEL122, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy.; Molteni L; SSD Laboratory Medicine - SMEL122, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy.; Micalizzi E; Clinical Neurophysiology Unit and Epilepsy Center, IRCCS Ospedale Policlinico San Martino, Genoa, Italy.; Villani F; Clinical Neurophysiology Unit and Epilepsy Center, IRCCS Ospedale Policlinico San Martino, Genoa, Italy.; Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.; Paediatric Neurology and Muscular Disease Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Bandettini R; Chromatography and Mass Spectrometry Section, Central Laboratory of Analysis, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Cangemi G; Chromatography and Mass Spectrometry Section, Central Laboratory of Analysis, IRCCS Istituto Giannina Gaslini, Genoa, Italy.

Publisher: John Wiley & Sons, Inc Country of Publication: United States NLM ID: 101692036 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2470-9239 (Electronic) Linking ISSN: 24709239 NLM ISO Abbreviation: Epilepsia Open Subsets: MEDLINE

Ettienne EB; College of Pharmacy, Howard University, Washington, DC, USA.; Grant-Kels JM; Dermatology, Pathology, and Pediatric Dermatology, University of Connecticut Health Center, Farmington, USA.; Striano P; University of Genoa, Italy.; Russo E; Pharmacology, University of Magna Graecia, Catanzaro, Italy.; Neubauer D; Department of Child, Adolescent & Developmental Neurology, University Childrens' Hospital, Ljubljana, Slovenia.; Rose K; klausrose Consulting, Riehen, Switzerland.

Publisher: Informa Healthcare Country of Publication: England NLM ID: 100897346 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1744-7666 (Electronic) Linking ISSN: 14656566 NLM ISO Abbreviation: Expert Opin Pharmacother Subsets: MEDLINE

Cali E; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, WC1N 3BG London, UK.; Quirin T; RNA Molecular Biology, Fonds de la Recherche Scientifique (F.R.S./FNRS), Université libre de Bruxelles (ULB), Biopark campus, B-6041 Gosselies, Belgium.; Rocca C; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, WC1N 3BG London, UK.; Efthymiou S; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, WC1N 3BG London, UK.; Riva A; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.; Marafi D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA; Department of Pediatrics, Faculty of Medicine, Kuwait University, Safat, Kuwait.; Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Suri M; UK National Paediatric Ataxia Telangiectasia Clinic, Nottingham University Hospitals NHS Trust, Nottingham, UK; Nottingham Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham, UK.; Dominguez R; Department of Physiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Elbendary HM; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Alavi S; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, WC1N 3BG London, UK; Palindrome, Isfahan, Iran.; Abdel-Hamid MS; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre Cairo, Egypt.; Morsy H; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, WC1N 3BG London, UK; Human Genetics Department, Medical Research Institute, Alexandria University, Egypt.; Mau-Them FT; Unité Fonctionnelle 6254 d'Innovation en Diagnostique Génomique des Maladies Rares, Pôle de Biologie, CHU Dijon Bourgogne, Dijon 21070, France; INSERM UMR1231 GAD, Dijon 21000, France.; Nizon M; Service de génétique médicale, CHU de Nantes, Nantes, France; Institut du thorax, INSERM, CNRS, UNIV Nantes, Nantes, France.; Tesner P; Department of Biology and Medical Genetics, 2nd Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic.; Ryba L; Department of Biology and Medical Genetics, 2nd Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic.; Zafar F; Department of Paediatric Neurology, Children's Hospital and Institute of Child Health, Multan, Pakistan.; Rana N; Department of Paediatric Neurology, Children's Hospital and Institute of Child Health, Multan, Pakistan.; Saadi NW; College of Medicine/University of Baghdad, Unit of Pediatric Neurology, Children Welfare Teaching Hospital, Baghdad, Iraq.; Firoozfar Z; Palindrome, Isfahan, Iran.; Gencpinar P; İzmir Katip Çelebi University Tepecik Training and Research Department of Pediatric Neurology, Izmir, Turkey.; Unay B; University of Health Sciences, Gülhane Faculty of Medicine, Department of Child Neurology, Ankara, Turkey.; Ustun C; University of Health Sciences, Gülhane Faculty of Medicine, Department of Child Neurology, Ankara, Turkey.; Bruel AL; Unité Fontctionnelle d'Innovation diagnostiques des maladies rares, FHU TRANSLAD, CHU Dijon Bourgogne, Dijon, 21000, France; INSERM-Université de Bourgogne UMR1231 GAD 'Génétique des Anomalies du Développement', Dijon, 21078, France.; Coubes C; Département de Génétique Médicale, Maladies rares et Médecine Personnalisée, et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, CHRU de Montpellier, Montpellier, France.; Stefanich J; Genetic Center, Akron Children's Hospital, Akron, Ohio, USA.; Sezer O; Department of Medical Genetics, Samsun University, Faculty of Medicine, Samsun, Turkey.; Agolini E; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, Rome, Italy.; Novelli A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, Rome, Italy.; Vasco G; Department of Neurosciences, Unit of Neurorehabilitation, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Lettori D; Department of Neurosciences, Unit of Neurorehabilitation, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Milh M; Aix-Marseille Univ, APHM, department of Pediatrics Neurology. Timone children Hospital. Marseille, France.; Villard L; Aix Marseille Univ, Inserm, MMG, Marseille, France; Service de Génétique Médicale, AP-HM, Hôpital de La Timone, Marseille, France.; Zeidler S; Department of Clinical Genetics, Erasmus MC, 3015 GD Rotterdam, The Netherlands.; Opperman H; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Strehlow V; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Issa MY; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; El Khassab H; Sulaiman Al Habib Hospital - Olaya Medical Complex - Riyadh, Saudi Arabia.; Chand P; Department of Paediatric and Child Health, Aga Khan University Hospital, Karachi, Pakistan.; Ibrahim S; Department of Paediatric and Child Health, Aga Khan University Hospital, Karachi, Pakistan.; Nejad-Rashidi A; Maternal, Fetal and Neonatal Research Center, Family Health Research Institute, Tehran University of Medical Sciences, Tehran, Iran; Genetics Ward, Yas Hospital Complex, Tehran University of Medical Sciences, Tehran, Iran.; Miryounesi M; Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; Larki P; Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; Morrison J; Division of Genetics, Arnold Palmer Hospital for Children, Orlando Health, Orlando, FL 32806, USA.; Cristian I; Division of Genetics, Arnold Palmer Hospital for Children, Orlando Health, Orlando, FL 32806, USA.; Thiffault I; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, MO, United States; Kansas City School of Medicine, University of Missouri, Kansas City, MO, United States; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO, United States.; Bertsch NL; The Community Health Clinic, Shipshewana, Indiana, USA.; Noh GJ; Department of Genetics, Southern California Permanente Medical Group, Fontana, CA 92335, USA.; Pappas J; Clinical Genetic Services, Department of Pediatrics, NYU Grossman School of Medicine, New York, NY 10016, USA; Clinical Genetics, NYU Orthopedic Hospital, New York, NY 10010, USA.; Moran E; Clinical Genetics, Center for Children, Hassenfeld Children's Hospital, New York University, New York, New York, USA.; Marinakis NM; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece.; Traeger-Synodinos J; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece.; Hosseini S; Pardis Pathobiology and Genetics Laboratory, Mashhad, Iran.; Abbaszadegan MR; Department of Medical Genetics and Molecular Medicine, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran; Medical Genetics Research Center, Mashhad University of Medical Sciences, Mashhad, Iran.; Caumes R; Service de Génétique Clinique, CHU Lille, Lille, France.; Vissers LELM; Department of Human Genetics, Radboudumc University Medical Center, Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, the Netherlands.; Neshatdoust M; Department of Cell and Molecular Biology and Microbiology, Faculty of Biological Science and Technology, University of Isfahan, Isfahan, Iran.; Montazer MZ; Genetics of Non-Communicable Disease Research Center, Zahedan University of Medical Sciences, Zahedan, Iran.; El Fahime E; National Centre for Scientific and Technical Research, Rabat, Morocco.; Canavati C; Molecular Genetics Laboratory, Istishari Arab Hospital, Ramallah, Palestine.; Kamal L; Molecular Genetics Laboratory, Istishari Arab Hospital, Ramallah, Palestine.; Kanaan M; Molecular Genetics Laboratory, Istishari Arab Hospital, Ramallah, Palestine.; Askander O; Faculty of Medical Sciences, Mohammed 6 Polytechnic University of Benguerir, Ben Guerir, Morocco.; Voinova V; Veltischev Research and Clinical Institute for Pediatrics of the Pirogov, Russian National Research Medical University, Ministry of Health of Russian Federation, Moscow, Russia, 125412; Mental Health Research Center, Moscow, Russia, 117152.; Levchenko O; Research Centre for Medical Genetics, Moscow, Russia.; Haider S; Paediatrics Wah Medical College NUMS, Wah Cantonment, Punjab 44000, Pakistan.; Halbach SS; University of Chicago Medicine, University of Chicago, Chicago, IL, USA.; Maia ER; Division of Genetics, Universidade Federal de Campina Grande, Campina Grande, Paraíba, Brazil.; Mansoor S; Cellular, Molecular and Genetics Research Center, Isfahan University of Medical Sciences, Isfahan, Iran; Medical Genetics Research Center of Genome, Isfahan University of Medical Sciences, Isfahan, Iran.; Vivek J; Department of Pediatric Neurology, Neo Clinic Children's Hospital, Jaipur 302019, India.; Tawde S; Department of Human Genetics, The University of Chicago, Illinois.; Santhosh R Challa V; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bengaluru, India.; Gowda VK; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bengaluru, India.; Srinivasan VM; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bengaluru, India.; Victor LA; Department of Pediatric Neurology - Instituto de Medicina Integral Prof. Fernando Figueira (IMIP), Boa Vista, Recife, Brazil.; Pinero-Banos B; Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Hague J; Clinical Genetics service, Northampton General Hospital, Northampton NN15BD, UK.; Ei-Awady HA; Department of Pediatrics, Fayoum University Hospitals, Fayoum, Egypt.; Maria de Miranda Henriques-Souza A; Instituto de Medicina Integral Prof. Fernando Figueira, Centro de Terapias Cetogênicas do IMIP, Recife PE, Brazil.; Cheema HA; Department of Pediatric Gastroenterology Hepatology and Genetic diseases Children's Hospital and University of Child Health Sciences Lahore, Pakistan.; Anjum MN; Department of Pediatric Gastroenterology Hepatology and Genetic diseases Children's Hospital and University of Child Health Sciences Lahore, Pakistan.; Idkaidak S; Al-Quds University, Jerusalem, Palestine.; Alqarajeh F; PRCS hospital, Hebron, Palestine.; Atawneh O; PRCS hospital, Hebron, Palestine.; Mor-Shaked H; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.; Harel T; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.; Zifarelli G; CENTOGENE GmbH, Am Strande 7, 18055 Rostock, Germany.; Bauer P; CENTOGENE GmbH, Am Strande 7, 18055 Rostock, Germany.; Kok F; Mendelics Genomic Analysis, São Paulo, Brazil.; Kitajima JP; Mendelics Genomic Analysis, São Paulo, Brazil.; Monteiro F; Mendelics Genomic Analysis, São Paulo, Brazil.; Josahkian J; Mendelics Genomic Analysis, São Paulo, Brazil.; Lesca G; Hospices Civils de Lyon, Service de Génétique, Bron, France; Pathophysiology and Genetics of Neuron and Muscle (PGNM, UCBL - CNRS UMR5261 - INSERM U1315), Université Claude Bernard Lyon 1, Lyon, France.; Chatron N; Hospices Civils de Lyon, Service de Génétique, Bron, France; Pathophysiology and Genetics of Neuron and Muscle (PGNM, UCBL - CNRS UMR5261 - INSERM U1315), Université Claude Bernard Lyon 1, Lyon, France.; Ville D; Department of Neuropediatric, University Hospital of Lyon, Lyon, France.; Murphy D; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, WC1N 3BG London, UK.; Neul JL; Department of Pediatrics, Vanderbilt Kennedy Center, Vanderbilt University Medical Center, Nashville, TN, USA.; Mullegama SV; GeneDx, Gaithersburg, MD 20877, USA.; Begtrup A; GeneDx, Gaithersburg, MD 20877, USA.; Herman I; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX.; Mitani T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Tay CG; Clinical Research Centre, Sunway Medical Centre, Malaysia.; Javed I; Department of Paediatric Neurology, Children Hospital and Institute of Child Health, Faisalabad, Pakistan.; Carr L; Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Kanani F; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.; Beecroft F; Birmingham Health Partners, West Midlands Regional Genetics Service, Birmingham Women's and Children's National Health Service (NHS) Foundation Trust, Birmingham, UK.; Hane L; Division of Medical Genetics, 3Billion Inc, Seoul, South Korea.; Abdelkreem E; Department of Pediatrics, Faculty of Medicine, Sohag University, Sohag, Egypt.; Macek M; Department of Biology and Medical Genetics, 2nd Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic.; Bispo L; Laboratório Mendelics, Department of Genetic, São Paulo, Brazil.; Elmaksoud MA; Neurology Unit, Department of Pediatrics, Faculty of Medicine, Alexandria University, Egypt.; Hashemi-Gorji F; Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX.; Amor DJ; Murdoch Children's Research Institute and University of Melbourne of Melbourne Department of Paediatrics, Royal Children's Hospital, Melbourne, Australia.; Jamra RA; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Chung WK; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusset's, USA.; Ghayoor EK; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran; Molecular and Clinical Sciences Institute, St. George's, University of London, Cranmer Terrace, London SW17 0RE, UK; Innovative Medical Research Center, Mashhad Branch, Islamic Azad University, Mashhad, Iran.; Campeau P; CHU Sainte-Justine Research Center, Montreal, QC, Canada; Department of Pediatrics, Faculty of Medicine, Université de Montréal, Montreal, QC, Canada.; Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Pagnamenta AT; NIHR Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK.; Gleeson J; Department of Neurosciences, University of California, San Diego, La Jolla 92093, USA; Rady Children's Institute for Genomic Medicine, San Diego 92123, USA.; Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy.; Moreno-De-Luca A; Department of Radiology, Neuroradiology Section, Kingston Health Sciences Centre, Queen's University Faculty of Health Sciences, Kingston, Ontario, Canada.; Lafontaine DLJ; RNA Molecular Biology, Fonds de la Recherche Scientifique (F.R.S./FNRS), Université libre de Bruxelles (ULB), Biopark campus, B-6041 Gosselies, Belgium.; Houlden H; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, WC1N 3BG London, UK.; Maroofian R; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, WC1N 3BG London, UK. Electronic address: r.maroofian@ucl.ac.uk.

Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

Falsaperla R; Neonatal Intensive Care Unit and Neonatal Accompaniment Unit, Azienda Ospedaliero-Universitaria Policlinico 'Rodolico-San Marco', San Marco Hospital, University of Catania, 95123 Catania, Italy.; Unit of Pediatrics and Pediatric Emergency, Azienda Ospedaliero-Universitaria Policlinico 'Rodolico-San Marco', San Marco Hospital, University of Catania, 95123 Catania, Italy.; Department of Medical Science-Pediatrics, University of Ferrara, 44124 Ferrara, Italy.; Sortino V; Unit of Pediatrics and Pediatric Emergency, Azienda Ospedaliero-Universitaria Policlinico 'Rodolico-San Marco', San Marco Hospital, University of Catania, 95123 Catania, Italy.; Gambilonghi F; Postgraduate Training Program in Pediatrics, Department of Clinical and Experimental Medicine, University of Catania, 95123 Catania, Italy.; Vitaliti G; Unit of Pediatrics and Pediatric Emergency, Azienda Ospedaliero-Universitaria Policlinico 'Rodolico-San Marco', San Marco Hospital, University of Catania, 95123 Catania, Italy.; Striano P; IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16126 Genoa, Italy.

Publisher: MDPI Publishing Country of Publication: Switzerland NLM ID: 101521595 Publication Model: Electronic Cited Medium: Internet ISSN: 2072-6643 (Electronic) Linking ISSN: 20726643 NLM ISO Abbreviation: Nutrients Subsets: MEDLINE

Orsini A; Pediatric Neurology, Pediatric Department, AOUP Santa Chiara Hospital, Pisa, Italy.; Santangelo A; Pediatric Neurology, Pediatric Department, AOUP Santa Chiara Hospital, Pisa, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy. Electronic address: androsantangelo@gmail.com.; Costagliola G; Pediatric Department, AOUP Santa Chiara Hospital, Pisa, Italy.; Scacciati M; Pediatric Department, AOUP Santa Chiara Hospital, Pisa, Italy.; Massart F; Pediatric Endocrinology, Pediatric Department, AOUP Santa Chiara Hospital, Pisa, Italy.; Operto FF; Department of Science of Health School of Medicine University Magna Greacia of Catanzaro, Italy.; D'Elios S; Pediatric Department, AOUP Santa Chiara Hospital, Pisa, Italy.; Consolini R; Pediatric Department, AOUP Santa Chiara Hospital, Pisa, Italy.; De Benedetti F; Division of Rheumatology, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy.; Maggio MC; University Department PROMISE 'G. D'Alessandro', University of Palermo, Palermo, Italy.; Miniaci A; Clinica Pediatrica, Policlinico Sant'Orsola Malpighi, Bologna, Italy.; Ferretti A; UOC di Pediatria, Facoltà di Medicina e Psicologia, Dipartimento NESMOS, Azienda Ospedaliero Universitaria Sant'Andrea, Rome, Italy.; Cordelli DM; Unitá Operativa Complessa (UOC) Neuropsichiatria dell'età Pediatrica, IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.; Battini R; Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Calambrone, (Pisa), Italy; Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.; Bonuccelli A; Pediatric Neurology, Pediatric Department, AOUP Santa Chiara Hospital, Pisa, Italy.; Savasta S; Pediatric Clinic and Rare Diseases, 'Microcitemico Hospital', Department of Medical Sciences and Public Health University of Cagliari, Cagliari, Italy.; Parisi P; UOC di Pediatria, Facoltà di Medicina e Psicologia, Dipartimento NESMOS, Azienda Ospedaliero Universitaria Sant'Andrea, Rome, Italy.; Fazzi E; Unit of Child Neurology and Psychiatry, Brescia Civil Hospital, Department of Clinical and Experimental Sciences University of Brescia, Italy.; Ruggieri M; Unit of Rare Diseases of the Nervous System in Childhood, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Catania, Italy.; Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, IRCCS Istituto G. Gaslini, Genoa, Italy.; Peroni DG; Pediatric Department, AOUP Santa Chiara Hospital, Pisa, Italy.; Foiadelli T; Clinica Pediatrica, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.

Publisher: Saunders Country of Publication: England NLM ID: 9715169 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-2130 (Electronic) Linking ISSN: 10903798 NLM ISO Abbreviation: Eur J Paediatr Neurol Subsets: MEDLINE

Paulet A; Département de Génétique, Hôpital Robert-Debré, Paris, France. alix.paulet@hotmail.fr.; Bennett-Ness C; Centre for Genomic and Experimental Medicine and Simons Initiative for the Developing Brain, Institute of Genetics and Cancer, Edinburgh, Scotland, UK.; Ageorges F; Département de Génétique, Hôpital Robert-Debré, Paris, France.; Trost D; Laboratoire Cerba, Saint-Ouen l'Aumône, France.; Green A; UCD School of Medicine and Medical Science Consultant in Clinical Genetics, Dublin, Ireland.; Goudie D; Regional Genetics Service, NHS Tayside, Dundee, Scotland, UK.; Jewell R; Yorkshire Regional Genetics Service, Leeds Teaching Hospitals NHS Trust, Leeds, England, UK.; Kraatari-Tiri M; Department of Clinical Genetics, Research unit of Clinical Medicine, Medical Research Center Oulu, Oulu, Finland.; Oulu University Hospital and University of Oulu, Oulu, Finland.; Piard J; Centre de Génétique Humaine, CHU Besançon, Besançon, France.; Coubes C; Service de Génétique Médicale, CHU de Montpellier, Montpellier, France.; Lam W; South-East of Scotland Clinical Genetics Service, General Hospital, Edinburgh, Scotland, UK.; Lynch SA; Clinical Genetics, Children's Health Ireland, Dublin, Ireland.; Groeschel S; Department of Neuropediatrics, University Children's Hospital, Tuebingen, Germany.; Ramond F; Service de Génétique, CHU Saint-Etienne - Hôpital Nord, Saint-Etienne, France.; Fluss J; University Hospitals of Geneva, Geneva, Switzerland.; Fagerberg C; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.; Brasch Andersen C; Human Genetik, Syddansk Universitet, Odense, Denmark.; Varvagiannis K; Service de Médecine Génétique, Hôpitaux universitaires de Genève, Geneva, Switzerland.; Kleefstra T; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands.; Center of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, The Netherlands.; Gérard B; Molecular Biology, Nouvel Hôpital Civil, Strasbourg, France.; Fradin M; Service de Génétique Médicale, Hôpital Sud, CHU de Rennes, Rennes, France.; Vitobello A; UMR-Inserm, Génétique des Anomalies du développement, Université de Bourgogne Franche-Comté, Dijon, France.; Tenconi R; Servizio di Genetica Medica, Dipartimento di Pediatra, Padova, Italia.; Denommé-Pichon AS; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; UMR1231 GAD, Inserm - Université Bourgogne-Franche Comté, Dijon, France.; Vincent-Devulder A; Génétique Médicale, CHU de Caen, Caen, France.; Haack T; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Marsh JA; MRC Human Genetics Unit, Western General Hospital, University of Edinburgh, Edinburgh, Scotland, UK.; Laulund LW; H C Andersen Children's Hospital, Odense University Hospital, Odense, Denmark.; Grimmel M; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Riess A; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; de Boer E; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands.; Padilla-Lopez S; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.; Bakhtiari S; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.; Ostendorf A; Steve and Cindy Rasmussen Institute for Genomic Medicine Nationwide Children's Hospital, Colombus, OH, USA.; Department of Pediatrics, The Ohio State University College of Medicine, Colombus, OH, USA.; Zweier C; Department of Human Genetics, Inselspital Bern, University of Bern, 3010, Bern, Switzerland.; 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Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: PubMed not MEDLINE; MEDLINE