학술논문
'학술논문'
에서 검색결과 39건 | 목록
1~10
Academic Journal
Gazdagh, G; Hunt, D; Gonzalez, AMC; Rodriguez, MP; Chaudhry, A; Madruga, M; Vansenne, F; Shears, D; Curie, A; Stattin, EL; Anderlid, BM; Trajkova, S; Angelovska, ES; McWilliam, C; Wyatt, PR; O'Driscoll, M; Atton, G; Bergman, AK; Zacher, P; Mewasingh, LD; Lopez, AGM; Alonso-Luengo, O; Wai, HA; Rohde, O; Boiroux, P; Debant, A; Schmidt, S; Baralle, D
American journal of medical genetics. Part A. 191(7):1722-1740
Academic Journal
Juliá-Palacios N; Neurometabolic Unit and Synaptic Metabolism Lab, Department of Neurology, Hospital Sant Joan de Déu-IRSJD, CIBERER and MetabERN, 08950 Barcelona, Spain.; Olivella M; Bioinformatics and Bioimaging Group. Faculty of Science, Technology and Engineering, University of Vic-Central University of Catalonia, 08500 Vic, Spain.; Institute for Research and Innovation in Life and Health Sciences (IRIS-CC), University of Vic-Central University of Catalonia, 08500 Vic, Spain.; Sigatullina Bondarenko M; Neurometabolic Unit and Synaptic Metabolism Lab, Department of Neurology, Hospital Sant Joan de Déu-IRSJD, CIBERER and MetabERN, 08950 Barcelona, Spain.; Ibáñez-Micó S; Pediatric Neurology Unit, Arrixaca Universitary Hospital, 30120 Murcia, Spain.; Muñoz-Cabello B; Department of Pediatrics, Hospital Universitario Virgen del Rocío, 41013 Sevilla, Spain.; Alonso-Luengo O; Department of Pediatrics, Hospital Universitario Virgen del Rocío, 41013 Sevilla, Spain.; Soto-Insuga V; Neurology Service, Hospital Niño Jesús, 28009 Madrid, Spain.; García-Navas D; Department of Pediatric Neurology, Complejo Hospitalario Universitario de Cáceres, 10003 Cáceres, Spain.; Cuesta-Herraiz L; Department of Paediatrics Neurology, Hospital de Manises, 46940 Valencia, Spain.; Andreo-Lillo P; Neuropediatric Unit, Pediatric Department, University Hospital of Sant Joan d'Alacant, 03550 Sant Joan d'Alacant, Spain.; Aguilera-Albesa S; Paediatric Neurology Unit, Department of Pediatrics, Hospital Universitario de Navarra, 31008, Pamplona, Spain.; Hedrera-Fernández A; Child Neurology Unit, Pediatrics Department, Hospital Universitario Central de Asturias, 33011 Oviedo, Spain.; González Alguacil E; Neurology Service, Hospital Niño Jesús, 28009 Madrid, Spain.; Sánchez-Carpintero R; Pediatric Neurology Unit, Clínica Universidad de Navarra, 31080, Pamplona, Spain.; Martín Del Valle F; Department of Pediatrics, Hospital Universitario Severo Ochoa, 28911 Leganés, Madrid, Spain.; Jiménez González E; Department of Pediatrics, Hospital Rey Juan Carlos, 28933 Móstoles, Madrid, Spain.; Cean Cabrera L; Pediatric Neurology Unit, Arrixaca Universitary Hospital, 30120 Murcia, Spain.; Medina-Rivera I; Neurometabolic Unit and Synaptic Metabolism Lab, Department of Neurology, Hospital Sant Joan de Déu-IRSJD, CIBERER and MetabERN, 08950 Barcelona, Spain.; Perez-Ordoñez M; Child and Adolescent Mental Health Area, Psychiatry and Psychology, Hospital Sant Joan de Déu, 08950 Barcelona, Spain.; Colomé R; Neurometabolic Unit and Synaptic Metabolism Lab, Department of Neurology, Hospital Sant Joan de Déu-IRSJD, CIBERER and MetabERN, 08950 Barcelona, Spain.; Lopez L; Department of Rehabilitation, Institut de Recerca Sant Joan de Déu, 08950 Barcelona, Spain.; Engracia Cazorla M; Department of Rehabilitation, Institut de Recerca Sant Joan de Déu, 08950 Barcelona, Spain.; Fornaguera M; Department of Rehabilitation, Institut de Recerca Sant Joan de Déu, 08950 Barcelona, Spain.; Ormazabal A; Department of Clinical Biochemistry, Hospital Sant Joan de Déu, 08950 Barcelona, Spain.; European Reference Network for Hereditary Metabolic Diseases (MetabERN), Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid 28029, Spain.; Alonso-Colmenero I; Pediatric Neurology Department, Hospital Sant Joan de Déu, Full Member of ERN EpiCare, Barcelona University, 08950 Barcelona, Spain.; Illescas KS; Neurometabolic Unit and Synaptic Metabolism Lab, Department of Neurology, Hospital Sant Joan de Déu-IRSJD, CIBERER and MetabERN, 08950 Barcelona, Spain.; Balsells-Mejía S; Department of Research Promotion and Management. Statistical Support, Hospital Sant Joan de Déu (HSJD), 08950 Barcelona, Spain.; Mari-Vico R; Neurometabolic Unit and Synaptic Metabolism Lab, Department of Neurology, Hospital Sant Joan de Déu-IRSJD, CIBERER and MetabERN, 08950 Barcelona, Spain.; Duffo Viñas M; Neurometabolic Unit and Synaptic Metabolism Lab, Department of Neurology, Hospital Sant Joan de Déu-IRSJD, CIBERER and MetabERN, 08950 Barcelona, Spain.; Child and Adolescent Mental Health Area, Psychiatry and Psychology, Hospital Sant Joan de Déu, 08950 Barcelona, Spain.; Cappuccio G; Department of Translational Medical Sciences, Università degli Studi di Napoli 'Federico II', 80125 Naples, Italy.; Telethon Institute of Genetics and Medicine, Department of Pediatrics, Pozzuoli, 80131 Naples, Italy.; Terrone G; Department of Translational Medical Sciences, Università degli Studi di Napoli 'Federico II', 80125 Naples, Italy.; Romano R; Department of Translational Medical Sciences, Università degli Studi di Napoli 'Federico II', 80125 Naples, Italy.; Manti F; Department of Human Neuroscience, University of Rome La Sapienza, 00185 Roma, Lazio, Italy.; Mastrangelo M; Department of Women and Child Health and Uroginecological Sciences, Sapienza University of Rome, 00185 Rome, Italy.; Child Neurology and Psychiatry Unit, Department of Neuroscience/Mental Health, Azienda Ospedaliero-Universitaria Policlinico Umberto I, 00161 Rome, Italy.; Alfonsi C; Department of Human Neuroscience, University of Rome La Sapienza, 00185 Roma, Lazio, Italy.; de Siqueira Barros B; Núcleo de Estudos da Saúde do Adolescente, Programa de Pós-Graduação em Ciências Médicas, Universidade do Estado do Rio de Janeiro, Faculdade de Ciência Médicas, 56066 Rio de Janeiro, RJ, Brazil.; Nizon M; Service de Génétique Médicale, CHU Nantes, 44093 Nantes, France.; Gjerulfsen CE; Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Center, 4293 Dianalund, Denmark.; Muro VL; Pediatric Neurology Unit, Hospital Britanico Buenos Aires, C1280AEB Buenos Aires, Argentina.; Karall D; Clinic for Paediatrics, Division of Inherited Metabolic Disorders, Medical University of Innsbruck, 6020 Innsbruck, Austria.; Zeiner F; Clinic for Paediatrics, Division of Inherited Metabolic Disorders, Medical University of Innsbruck, 6020 Innsbruck, Austria.; Masnada S; Department of Child Neurology, V. Buzzi Children's Hospital, 20125 Milan, Italy.; Peterlongo I; Department of Child Neurology, V. Buzzi Children's Hospital, 20125 Milan, Italy.; Oyarzábal A; Neurometabolic Unit and Synaptic Metabolism Lab, Department of Neurology, Hospital Sant Joan de Déu-IRSJD, CIBERER and MetabERN, 08950 Barcelona, Spain.; Santos-Gómez A; Department of Biomedicine, School of Medicine and Health Sciences, Institute of Neurosciences, University of Barcelona, 08036 Barcelona, Spain.; August Pi i Sunyer Biomedical Research Institute (IDIBAPS), University of Barcelona, 08036 Barcelona, Spain.; Altafaj X; Department of Biomedicine, School of Medicine and Health Sciences, Institute of Neurosciences, University of Barcelona, 08036 Barcelona, Spain.; August Pi i Sunyer Biomedical Research Institute (IDIBAPS), University of Barcelona, 08036 Barcelona, Spain.; García-Cazorla Á; Neurometabolic Unit and Synaptic Metabolism Lab, Department of Neurology, Hospital Sant Joan de Déu-IRSJD, CIBERER and MetabERN, 08950 Barcelona, Spain.
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
Academic Journal
Stanescu S; Pediatric Metabolic Unit, Hospital Universitario Ramón y Cajal, European Reference Center (MetabERN), 28034 Madrid, Spain.; Correcher Medina P; Pediatric Nutrition and Metabolic Unit, Hospital Universitario y Politécnico La Fe, 46026 Valencia, Spain.; Del Castillo FJ; Genetics Department, Hospital Universitario Ramón y Cajal, IRYCIS, 28034 Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 28029 Madrid, Spain.; Alonso Luengo O; Pedriatic Unit, Hospital Universitario Virgen del Rocío, 41013 Seville, Spain.; Arto Millan LM; Internal Medicine Unit, Complejo Asistencial Universitario de León, 24008 León, Spain.; Belanger Quintana A; Pediatric Metabolic Unit, Hospital Universitario Ramón y Cajal, European Reference Center (MetabERN), 28034 Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 28029 Madrid, Spain.; Camprodon Gomez M; Rare and Metabolic Diseases Unit, Hospital Universitario Vall d'Hebron, 08035 Barcelona, Spain.; Diez Langhetée L; Minority Diseases Unit, Hospital de Manises, 46940 Valencia, Spain.; Garcia Campos O; Pediatric Neurology Unit, Hospital Universitario de Toledo, 45007 Toledo, Spain.; Matas Garcia A; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 28029 Madrid, Spain.; Muscle Research Unit, Internal Medicine Service, Hospital Clínic de Barcelona, 08036 Barcelona, Spain.; Perez-Moreno J; Pedriatic Unit, Hospital General Universitario Gregorio Marañón, 28007 Madrid, Spain.; Rubio Gribble B; Pedriatic Unit, Hospital Universitario de Getafe, 28905 Madrid, Spain.; Visa-Reñé N; Pedriatic Unit, Hospital Universitari Arnau de Vilanova, 25198 Lleida, Spain.; Giraldo-Castellano P; Fundación Española Para el Estudio y Terapéutica de la Enfermedad de Gaucher y Otras Lisosomales (FEETEG), 50006 Zaragoza, Spain.; O'Callaghan Gordo M; Neurology Unit and Congenital Metabolic Diseases Unit, Hospital Sant Joan de Déu, 08950 Barcelona, Spain.
Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101691304 Publication Model: Electronic Cited Medium: Print ISSN: 2227-9059 (Print) Linking ISSN: 22279059 NLM ISO Abbreviation: Biomedicines Subsets: PubMed not MEDLINE
Academic Journal
Baide-Mairena, H.; Marcé-Grau, A.; Cazurro-Gutiérrez, A.; Macaya-Ruiz, A.; Pérez-Dueñas, B.; Marti-Sánchez, L.; Sanchez-Montanez, A.; Delgado, I.; Moreno-Galdó, A.; García-Arumí, E.; Pons, R.; López-Laso, E.; Vázquez, E.; Crow, Y.J.; Correa-Vela, M.; López, J.M.; Rebollo, M.; Carreño, L.; Ortigoza-Escobar, J.-D.; Cabrera López, J.C.; Garrido, M.M.; Alonso-Luengo, O.; Quijada-Fraile, P.; Martin-Hernandez, E.; García Silva, M.T.; Velásquez-Fragua, R.; Gutiérrez Solana, L.G.; Cáceres-Marzal, C.; Marti-Carrera, I.; Bin Tajudin, T.B.; Hong, T.Y.; Schuler, E.; Ben Pazi, H.; Campos, O.G.; Cerisola, A.; Vila, M.T.; Viñas, T.E.; Sala-Coromina, J.; Rice, G.
In: Developmental Medicine and Child Neurology . (Developmental Medicine and Child Neurology, June 2022, 64(6):743-752)
Academic Journal
Santos-Gómez A; Neurophysiology Laboratory, Department of Biomedicine, Faculty of Medicine and Health Sciences, Institute of Neurosciences, University of Barcelona, 08036 Barcelona, Spain.; August Pi i Sunyer Biomedical Research Institute (IDIBAPS), University of Barcelona, 08036 Barcelona, Spain.; Miguez-Cabello F; Neurophysiology Laboratory, Department of Biomedicine, Faculty of Medicine and Health Sciences, Institute of Neurosciences, University of Barcelona, 08036 Barcelona, Spain.; August Pi i Sunyer Biomedical Research Institute (IDIBAPS), University of Barcelona, 08036 Barcelona, Spain.; Juliá-Palacios N; Neurometabolic Unit, Department of Neurology, Hospital Sant Joan de Déu-CIBERER, 08950 Barcelona, Spain.; García-Navas D; Department of Pediatric Neurology, Hospital Universitario San Pedro de Alcántara, 10001 Cáceres, Spain.; Soto-Insuga V; Neurology Service, Hospital Niño Jesús, 28009 Madrid, Spain.; García-Peñas JJ; Neurology Service, Hospital Niño Jesús, 28009 Madrid, Spain.; Fuentes P; Neuropediatrics Unit, Hospital Clínico Santiago de Compostela, 15706 Santiago de Compostela, Spain.; Ibáñez-Micó S; Pediatric Neurology Unit, Arrixaca Universitary Hospital, 30120 Murcia, Spain.; Cuesta L; Department of Paediatrics Neurology, Hospital de Manises, 46940 Valencia, Spain.; Cancho R; Pediatric Neurology, Department of Pediatrics, Hospital Universitario Río Hortega, 47012 Valladolid, Spain.; Andreo-Lillo P; Neuropediatric Unit, Pediatric Department, University Hospital of Sant Joan d'Alacant, 03550 Sant Joan d'Alacant, Spain.; Gutiérrez-Aguilar G; Pediatrics Unit, Hospital Universitario de Jerez de la Frontera, 11407 Jerez de la Frontera, Spain.; Alonso-Luengo O; Department of Pediatrics, Hospital Universitario Virgen del Rocío, 41013 Sevilla, Spain.; Málaga I; Child Neurology Unit, Pediatrics Department, Hospital Universitario Central de Asturias, 33011 Oviedo, Spain.; Hedrera-Fernández A; Child Neurology Unit, Pediatrics Department, Hospital Universitario Central de Asturias, 33011 Oviedo, Spain.; García-Cazorla À; Neurometabolic Unit, Department of Neurology, Hospital Sant Joan de Déu-CIBERER, 08950 Barcelona, Spain.; Soto D; Neurophysiology Laboratory, Department of Biomedicine, Faculty of Medicine and Health Sciences, Institute of Neurosciences, University of Barcelona, 08036 Barcelona, Spain.; August Pi i Sunyer Biomedical Research Institute (IDIBAPS), University of Barcelona, 08036 Barcelona, Spain.; Olivella M; Bioinfomatics and Medical Statistics Group, University of Vic-Central University of Catalonia, 08500 Vic, Spain.; Altafaj X; Neurophysiology Laboratory, Department of Biomedicine, Faculty of Medicine and Health Sciences, Institute of Neurosciences, University of Barcelona, 08036 Barcelona, Spain.; August Pi i Sunyer Biomedical Research Institute (IDIBAPS), University of Barcelona, 08036 Barcelona, Spain.
Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE
Academic Journal
Baide-Mairena H; Department of Child Neurology, Hospital Vall d'Hebron - Institut de Recerca (VHIR), Barcelona, Spain; Faculty of Medicine, Universitat Autónoma de Barcelona, Unitat Docent Vall d'Hebrón, Spain.; Gaudó P; Departament of Biochemistry, Molecular and Cellular Biology, Zaragoza University-Sanitary Research Institute of Aragon (IIS-Aragón), Zaragoza, Spain.; Marti-Sánchez L; Clinical Biochemistry Institut de Recerca - Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain.; Emperador S; Departament of Biochemistry, Molecular and Cellular Biology, Zaragoza University-Sanitary Research Institute of Aragon (IIS-Aragón), Zaragoza, Spain; CIBERER, Centro de Investigaciones Biomédicas en Red de Enfermedades Raras, Madrid, Spain.; Sánchez-Montanez A; Neuroradiology Hospital Vall d'Hebron - Institut de Recerca (VHIR), Barcelona, Spain.; Alonso-Luengo O; Department of Pediatrics, University Hospital Virgen del Rocío, Sevilla, Spain.; Correa M; Department of Child Neurology, Hospital Vall d'Hebron - Institut de Recerca (VHIR), Barcelona, Spain.; Grau AM; Department of Child Neurology, Hospital Vall d'Hebron - Institut de Recerca (VHIR), Barcelona, Spain.; Ortigoza-Escobar JD; Department of Child Neurology Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain.; Artuch R; Clinical Biochemistry Institut de Recerca - Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain.; Vázquez E; Neuroradiology Hospital Vall d'Hebron - Institut de Recerca (VHIR), Barcelona, Spain.; Del Toro M; Department of Child Neurology, Hospital Vall d'Hebron - Institut de Recerca (VHIR), Barcelona, Spain.; Garrido-Pérez N; Departament of Biochemistry, Molecular and Cellular Biology, Zaragoza University-Sanitary Research Institute of Aragon (IIS-Aragón), Zaragoza, Spain.; Ruiz-Pesini E; Departament of Biochemistry, Molecular and Cellular Biology, Zaragoza University-Sanitary Research Institute of Aragon (IIS-Aragón), Zaragoza, Spain.; Montoya J; Departament of Biochemistry, Molecular and Cellular Biology, Zaragoza University-Sanitary Research Institute of Aragon (IIS-Aragón), Zaragoza, Spain; CIBERER, Centro de Investigaciones Biomédicas en Red de Enfermedades Raras, Madrid, Spain.; Bayona-Bafaluy MP; Departament of Biochemistry, Molecular and Cellular Biology, Zaragoza University-Sanitary Research Institute of Aragon (IIS-Aragón), Zaragoza, Spain; CIBERER, Centro de Investigaciones Biomédicas en Red de Enfermedades Raras, Madrid, Spain.; Pérez-Dueñas B; Department of Child Neurology, Hospital Vall d'Hebron - Institut de Recerca (VHIR), Barcelona, Spain; CIBERER, Centro de Investigaciones Biomédicas en Red de Enfermedades Raras, Madrid, Spain; Faculty of Medicine, Universitat Autónoma de Barcelona, Unitat Docent Vall d'Hebrón, Spain. Electronic address: belen.perez@vhir.org.
Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE
Academic Journal
Marti-Sanchez, L.; Ortigoza-Escobar, J.; Molero-Luis, M.; Aviles, C.; Baide, H.; Muchart, J.; Rebollo, M.; Turon-Vinas, E.; Cabrera-Lopez, J.; Tong-Hong, Y.; Madruga-Garrido, M.; Alonso-Luengo, O.; Quijada-Fraile, P.; Martin-Hernandez, E.; Garcia-Silva, M.; Cerisola, A.; Velazquez-Fragua, R.; Schuler, E.; Lopez-Laso, E.; Gutierrez-Solana, L.; Caceres-Marzal, C.; Marti-Carrera, I.; Garcia-Campos, O.; Tomas-Vila, M.; Moreno-Medinilla, E.; Rice, G.; Crow, Y.; Pons, R.; Perez-Duenas, B.
Academic Journal
Baide-Mairena, H.; Marti-Sanchez, L.; Muchart, J.; Rebollo, M.; Turon, E.; Cabrera Lopez, J. C.; Tong-Hong, Y.; Madruga-Garrido, M.; Alonso-Luengo, O.; Quijada-Fraile, P.; Garcia-Silva, M. T.; Cerisola, A.; Velazquez-Fragua, R.; Schuler, E.; Lopez-Laso, E.; Gutierrez-Solana, L.; Caceres-Marzal, C.; Marti, I.; Garcia-Campos, O.; Tomas-Vila, M.; Macaya, A.; Ben-Pazi, H.; Rice, G. I.; Crow, Y.; Pons, R.; Ortigoza-Escobar, J. D.; Perez Duenas, B.
Academic Journal
Garcia-Jimenez, M. C.; Baldellou, A.; Garcia-Silva, M. T.; Dalmau-Serra, J.; Garcia-Cazorla, A.; Gomez-Lopez, L.; Pedron Giner, C.; Alonso Luengo, O.; Pena Quintana, L.; Luz Couce, M.; Martinez-Pardo, M.; Lambruschini, N.
Report
García García E; Unidad de Pediatría, Hospital Universitario Virgen del Rocío, Sevilla, España. Electronic address: ejgg67@gmail.com.; Rivero Garvía M; Servicio de Neurocirugía, Hospital Universitario Virgen del Rocío, Sevilla, España.; Alonso Luengo O; Unidad de Pediatría, Hospital Universitario Virgen del Rocío, Sevilla, España.
Publisher: Elsevier España Country of Publication: Spain NLM ID: 0376377 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1578-8989 (Electronic) Linking ISSN: 00257753 NLM ISO Abbreviation: Med Clin (Barc) Subsets: MEDLINE
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