학술논문
'학술논문'
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1~10
Academic Journal
Laura González; Pedro Navia; Ricardo Rigual; Blanca Fuentes; María Alonso de Leciñana; Remedios Frutos; Elena de Celis-Ruiz; Maria Gutiérrez-Fernández; Jorge Rodríguez-Pardo; Carlos Hervás; Irene Peirotén; Elisa Alonso-López; Laura Casado; Andrés Francisco Fernández Prieto; Rebeca Gallego-Ruiz; Noemí González Pérez de Villar; Laura Otero-Ortega; Javier Pozo-Novoa; Gerardo Ruiz
BMJ Open, Vol 14, Iss 8 (2024)
Academic Journal
Castrejón-Castrejón, Sergio; Martínez Cossiani, Marcel; Jáuregui-Abularach, Miguel; Basterra Sola, Nuria; Ibáñez Criado, José Luis; Osca Asensi, Joaquín; Roca Luque, Ivo; Moya Mitjans, Angel; Quesada Dorador, Aurelio; Hidalgo Olivares, Víctor Manuel; Pérez Castellano, Nicasio; Fernández Gómez, Juan Manuel; Macías-Ruiz, María Rosa; Bochard Villanueva, Bruno; Gonzalo Bada, Nerea; Fernández Prieto, Andrés; Guido López, Leonardo Elías; Martínez Maldonado, María Eugenia; Merino, Daniel; Escobar Cervantes, Carlos; Merino, José Luis
Journal of Interventional Cardiac Electrophysiology: An International Journal of Cardiac Arrhythmias and Rhythm Management. 66(8):1889-1899
Electronic Resource
Kassabian, Benedetta; Levy, Amanda M.; Gardella, Elena; Aledo-Serrano, Angel; Ananth, Amitha L.; Brea-Fernández, Alejandro J.; Caumes, Roseline; Chatron, Nicolas; Dainelli, Alice; De Wachter, Matthias; Denommé-Pichon, Anne-Sophie; Dye, Thomas J.; Fazzi, Elisa; Felt, Roxanne; Fernández-Jaén, Alberto; Fernández-Prieto, Montse; Gantz, Emily; Gasperowicz, Piotr; Gil-Nagel, Antonio; Gómez-Andrés, David; Greiner, Hansel M.; Guerrini, Renzo; Haanpää, Maria K.; Helin, Minttu; Hoyer, Juliane; Hurst, Anna C. E.; Kallish, Staci; Karkare, Shefali N.; Khan, Amjad; Kleinendorst, Lotte; Koch, Johannes; Kothare, Sanjeev V.; Koudijs, Suzanna M.; Lagae, Lieven; Lakeman, Phillis; Leppig, Kathleen A.; Lesca, Gaetan; Lopergolo, Diego; Lusk, Laina; Mackenzie, Alex; Mei, Davide; Møller, Rikke S.; Pereira, Elaine M.; Platzer, Konrad; Quelin, Chloe; Revah-Politi, Anya; Rheims, Sylvain; Rodríguez-Palmero, Agustí; Rossi, Andrea; Santorelli, Filippo; Seinfeld, Syndi; Sell, Erick; Stephenson, Donna; Szczaluba, Krzysztof; Trinka, Eugen; Umair, Muhammad; Van Esch, Hilde; van Haelst, Mieke M.; Veenma, Danielle C. M.; Weber, Sacha; Weckhuysen, Sarah; Zacher, Pia; Tümer, Zeynep; Rubboli, Guido
Kassabian , B , Levy , A M , Gardella , E , Aledo-Serrano , A , Ananth , A L , Brea-Fernández , A J , Caumes , R , Chatron , N , Dainelli , A , De Wachter , M , Denommé-Pichon , A-S , Dye , T J , Fazzi , E , Felt , R , Fernández-Jaén , A , Fernández-Prieto , M , Gantz , E , Gasperowicz , P , Gil-Nagel , A , Gómez-Andrés , D , Greiner , H M , Guerrini , R , Haanpää , M K , Helin , M , Hoyer , J , Hurst , A C E , Kallish , S , Karkare , S N , Khan , A , Kleinendorst , L , Koch , J , Kothare , S V , Koudijs , S M , Lagae , L , Lakeman , P , Leppig , K A , Lesca , G , Lopergolo , D , Lusk , L , Mackenzie , A , Mei , D , Møller , R S , Pereira , E M , Platzer , K , Quelin , C , Revah-Politi , A , Rheims , S , Rodríguez-Palmero , A , Rossi , A , Santorelli , F , Seinfeld , S , Sell , E , Stephenson , D , Szczaluba , K , Trinka , E , Umair , M , Van Esch , H , van Haelst , M M , Veenma , D C M , Weber , S , Weckhuysen , S , Zacher , P , Tümer , Z & Rubboli , G 2024 , ' Developmental epileptic encephalopathy in DLG4 -related synaptopathy ' , Epilepsia , vol. 65 , no. 4 , pp. 1029-1045 .
Academic Journal
Uclés, Jorge; Cuesta, Emilio; Rigual, Ricardo; Rodríguez-Pardo, Jorge; Ruiz-Ares, Gerardo; Navía, Pedro; Fernández-Prieto, Andrés; Álvarez-Muelas, Alberto; de Leciñana, María Alonso; Fuentes, Blanca
PLoS ONE. February 24, 2023, Vol. 18 Issue 2, e0281955
Academic Journal
Jorge Uclés; Emilio Cuesta; Ricardo Rigual; Jorge Rodríguez-Pardo; Gerardo Ruiz-Ares; Pedro Navía; Andrés Fernández-Prieto; Alberto Álvarez-Muelas; María Alonso de Leciñana; Blanca Fuentes
PLoS ONE, Vol 18, Iss 2, p e0281955 (2023)
Academic Journal
Raquel Gutiérrez-Zúñiga; Jorge Uclés; Juan Carlos Sánchez-Manso; Blanca Fuentes; Elena de Celis; Gerardo Ruiz-Ares; Jorge Rodríguez-Pardo; Ricardo Rigual; Laura Casado; Elisa Alonso; Andrés Fernández-Prieto; Pedro Navia; Alberto Álvarez-Muelas; Begoña Marín; Exuperio Díez Tejedor; María Alonso de Leciñana
Digital Health, Vol 8 (2022)
Academic Journal
Kassabian, Benedetta; Levy, Amanda M.; Gardella, Elena; Aledo-Serrano, Angel; Ananth, Amitha L.; Brea-Fernandez, Alejandro J.; Caumes, Roseline; Chatron, Nicolas; Dainelli, Alice; De Wachter, Matthias; Denomme-Pichon, Anne-Sophie; Dye, Thomas J.; Fazzi, Elisa; Felt, Roxanne; Fernandez-Jaen, Alberto; Fernandez-Prieto, Montse; Gantz, Emily; Gasperowicz, Piotr; Gil-Nagel, Antonio; Gomez-Andres, David; Greiner, Hansel M.; Guerrini, Renzo; Haanpaeae, Maria K.; Helin, Minttu; Hoyer, Juliane; Hurst, Anna C. E.; Kallish, Staci; Karkare, Shefali N.; Khan, Amjad; Kleinendorst, Lotte; Koch, Johannes; Kothare, Sanjeev V.; Koudijs, Suzanna M.; Lagae, Lieven; Lakeman, Phillis; Leppig, Kathleen A.; Lesca, Gaetan; Lopergolo, Diego; Lusk, Laina; Mackenzie, Alex; Mei, Davide; Moller, Rikke S.; Pereira, Elaine M.; Platzer, Konrad; Quelin, Chloe; Revah-Politi, Anya; Rheims, Sylvain; Rodriguez-Palmero, Agusti; Rossi, Andrea; Santorelli, Filippo; Seinfeld, Syndi; Sell, Erick; Stephenson, Donna; Szczaluba, Krzysztof; Trinka, Eugen; Umair, Muhammad; Van Esch, Hilde; van Haelst, Mieke M.; Veenma, Danielle C. M.; Weber, Sacha; Weckhuysen, Sarah; Zacher, Pia; Tuemer, Zeynep; Rubboli, Guido
Academic Journal
Osama O Zaidat; David Liebeskind; Mario Martínez-Galdámez; Joaquin Zamarro; Alejandro Tomasello; Andrés Fernández-Prieto; Nils H Mueller-Kronast; Eva González Diaz; Carlos Rodríguez-Paz; Rosa Martínez-Moreno; Joaquín Ortega Quintanilla
BMJ Open, Vol 12, Iss 9 (2022)
Academic Journal
Rigual, Ricardo; Ruiz-Ares, Gerardo; Rodriguez-Pardo, Jorge; Fernández-Prieto, Andrés; Navia, Pedro; Novo, Joan R.; Alonso de Leciñana, María; Alonso-Singer, Pablo; Fuentes, Blanca; Díez-Tejedor, Exuperio
The Neurologist. May 01, 2022 27(3):143-146
Academic Journal
Kassabian B; Department of Epilepsy Genetics and Precision Medicine, Danish Epilepsy Center Filadelfia, member of the European Reference Network EpiCARE, Dianalund, Denmark.; Neurology Unit, Department of Neurosciences, University of Padua, Padua, Italy.; Levy AM; Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.; Gardella E; Department of Epilepsy Genetics and Precision Medicine, Danish Epilepsy Center Filadelfia, member of the European Reference Network EpiCARE, Dianalund, Denmark.; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark.; Aledo-Serrano A; Epilepsy and Neurogenetics Unit, Vithas la Milagrosa University Hospital, Vithas Hospital Group, Madrid, Spain.; Ananth AL; Division of Pediatric Neurology, University of Alabama at Birmingham, Birmingham, Alabama, USA.; Brea-Fernández AJ; Grupo de Genómica y Bioinformática, Centro Singular de Investigación en Medicina Molecular y Enfermedades Crónicas (CiMUS), Centro de Investigación Biomédica en Red de Enfermedades Raras del Instituto de Salud Carlos III (CIBERER-ISCIII), Universidade de Santiago de Compostela, Santiago de Compostela, Spain.; Grupo de Genética, Fundación Pública Galega de Medicina Xenómica, Instituto de Investigación Biomédica de Santiago (IDIS), Santiago de Compostela, Spain.; Caumes R; CHU de Lille, Clinique de Génétique, Lille, France.; Chatron N; Service de Genetique, Hospices Civils de Lyon, Bron, France.; Institute NeuroMyoGène, Laboratoire Physiopathologie et Génétique du Neurone et du Muscle, Centre National de la recherche scientifique (CNRS) Unité mixte de recherche (UMR) 5261- L'Institut national de la santé et de la recherche médicale (INSERM) U1315, Université de Lyon-Université Claude Bernard Lyon 1, Lyon, France.; Dainelli A; Neuroscience Department, Meyer Children's Hospital IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico), member of the European Reference Network EpiCARE, Florence, Italy.; De Wachter M; Department of Pediatric Neurology, Antwerp University Hospital, University of Antwerp, Edegem, Belgium.; Denommé-Pichon AS; Functional Unit for Diagnostic Innovation in Rare Diseases, Fédération Hospitalo-Universitaire Médecine TRANSLationnelle et Anomalies du Développement (FHU-TRANSLAD), Dijon Bourgogne University Hospital, Dijon, France.; L'Institut national de la santé et de la recherche médicale (INSERM) Unité mixte de recherche (UMR) 1231, Génétique des Anomalies du Développement (GAD), Fédération Hospitalo-Universitaire Médecine TRANSLationnelle et Anomalies du Développement (FHU-TRANSLAD), University of Burgundy, Dijon, France.; Dye TJ; Division of Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.; Fazzi E; Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.; Unit of Child Neurology and Psychiatry, Azienda Socio Sanitaria Territoriale (ASST) Spedali Civili of Brescia, Brescia, Italy.; Felt R; Department of Neurology, Kaiser Permanente Bellevue Medical Center, Bellevue, Washington, USA.; Fernández-Jaén A; Department of Pediatric Neurology, Neurogenetics Section, Hospital Universitario Quirónsalud, Madrid, Spain.; Facultad de Medicina, Universidad Europea, Madrid, Spain.; Fernández-Prieto M; Grupo de Genómica y Bioinformática, Centro Singular de Investigación en Medicina Molecular y Enfermedades Crónicas (CiMUS), Centro de Investigación Biomédica en Red de Enfermedades Raras del Instituto de Salud Carlos III (CIBERER-ISCIII), Universidade de Santiago de Compostela, Santiago de Compostela, Spain.; Grupo de Genética, Fundación Pública Galega de Medicina Xenómica, Instituto de Investigación Biomédica de Santiago (IDIS), Santiago de Compostela, Spain.; Gantz E; Division of Pediatric Neurology, University of Alabama at Birmingham, Birmingham, Alabama, USA.; Gasperowicz P; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.; Gil-Nagel A; Neurology Department, Epilepsy Program, Ruber Internacional Hospital, Madrid, Spain.; Gómez-Andrés D; Child Neurology Unit, Hospital Universitari Vall d'Hebron, Vall d'Hebron Research Institute, Barcelona, Spain.; Greiner HM; Division of Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.; Guerrini R; Neuroscience Department, Meyer Children's Hospital IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico), member of the European Reference Network EpiCARE, Florence, Italy.; Haanpää MK; Department of Genomics, Turku University Hospital, Turku, Finland.; Helin M; Department of Pediatric Neurology, Turku University Hospital, Turku, Finland.; Hoyer J; Friedrich-Alexander-Universität Erlangen Nürnberg, Institute of Human Genetics, Erlangen, Germany.; Hurst ACE; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.; Kallish S; Division of Translational Medicine and Human Genetics, Department of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Karkare SN; Division of Pediatric Neurology, Department of Pediatrics, Cohen Children's Medical Center, New Hyde Park, New York, USA.; Khan A; Department of Zoology, Faculty of Biological Sciences, University of Lakki Marwat, Lakki Marwat, Pakistan.; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Kleinendorst L; Department of Human Genetics, Amsterdam University Medical Center (UMC), University of Amsterdam, Amsterdam, the Netherlands.; Emma Center for Personalized Medicine, Amsterdam University Medical Center (UMC), University of Amsterdam, Amsterdam, the Netherlands.; Koch J; University Children's Hospital, Paracelsus Medical University, Salzburg, Austria.; Kothare SV; Division of Pediatric Neurology, Department of Pediatrics, Cohen Children's Medical Center, New Hyde Park, New York, USA.; Koudijs SM; Department of Neurology, Erasmus Medical Center (MC) Sophia Children's Hospital, Rotterdam, the Netherlands.; Erfelijke Neuro-Cognitieve Ontwikkelingsstoornissen, Rotterdam, Erasmus Medical Center (ENCORE)-GRIN Expertise Center, Rotterdam, the Netherlands.; Lagae L; Department of Development and Regeneration, Section Paediatric Neurology, member of the European Reference Network EpiCARE, University Hospitals Leuven, Leuven, Belgium.; Lakeman P; Department of Human Genetics, Amsterdam University Medical Center (UMC), University of Amsterdam, Amsterdam, the Netherlands.; Leppig KA; Genetic Services, Kaiser Permanente of Washington, Seattle, Washington, USA.; Lesca G; Service de Genetique, Hospices Civils de Lyon, Bron, France.; Institute NeuroMyoGène, Laboratoire Physiopathologie et Génétique du Neurone et du Muscle, Centre National de la recherche scientifique (CNRS) Unité mixte de recherche (UMR) 5261- L'Institut national de la santé et de la recherche médicale (INSERM) U1315, Université de Lyon-Université Claude Bernard Lyon 1, Lyon, France.; Lopergolo D; Department of Medicine, Surgery, and Neurosciences, University of Siena, Siena, Italy.; Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Stella Maris Foundation, Pisa, Italy.; Lusk L; Division of Neurology, Epilepsy Neurogenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Mackenzie A; Research Institute, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.; Faculty of Medicine, University of Ottawa, Ottawa, Ontario, Canada.; Mei D; Neuroscience Department, Meyer Children's Hospital IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico), member of the European Reference Network EpiCARE, Florence, Italy.; Møller RS; Department of Epilepsy Genetics and Precision Medicine, Danish Epilepsy Center Filadelfia, member of the European Reference Network EpiCARE, Dianalund, Denmark.; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark.; Pereira EM; Division of Clinical Genetics, Department of Pediatrics, Columbia University Vagelos College of Physicians and Surgeons and New York-Presbyterian Morgan Stanley Children's Hospital, New York, New York, USA.; Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Quelin C; Department of Medical Genetics, CHU de Rennes, Rennes, France.; Revah-Politi A; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, New York, USA.; Rheims S; Department of Functional Neurology and Epileptology, member of the European Reference Network EpiCARE, Hospices Civils de Lyon and Lyon 1 University, Lyon, France.; Rodríguez-Palmero A; Paediatric Neurology Unit, Department of Pediatrics, Hospital Universitari Germans Trias i Pujol, Universitat Autònoma de Barcelona, Barcelona, Spain.; Grupo de Investigación Biomédica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain.; Rossi A; Unit of Child Neurology and Psychiatry, Azienda Socio Sanitaria Territoriale (ASST) Spedali Civili of Brescia, Brescia, Italy.; Santorelli F; Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Stella Maris Foundation, Pisa, Italy.; Seinfeld S; Department of Pediatric Neurology, Neuroscience Center, Joe DiMaggio Children's Hospital, Hollywood, Florida, USA.; Sell E; Division of Neurology, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.; Stephenson D; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Szczaluba K; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.; Center of Excellence for Rare and Undiagnosed Diseases, Medical University of Warsaw, Warsaw, Poland.; Trinka E; Department of Neurology, Neurointensive Care and Neurorehabilitation, Christian Doppler University Hospital, member of the European Reference Network EpiCARE, Paracelsus Medical University, Center for Cognitive Neuroscience, Salzburg, Austria.; Neuroscience Institute, Christian Doppler University Hospital, member of the European Reference Network EpiCARE, Paracelsus Medical University, Center for Cognitive Neuroscience, Salzburg, Austria.; Umair M; Medical Genomics Research Department, King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.; Department of Life Sciences, School of Science, University of Management and Technology, Lahore, Pakistan.; Van Esch H; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium.; van Haelst MM; Department of Human Genetics, Amsterdam University Medical Center (UMC), University of Amsterdam, Amsterdam, the Netherlands.; Emma Center for Personalized Medicine, Amsterdam University Medical Center (UMC), University of Amsterdam, Amsterdam, the Netherlands.; Veenma DCM; Erfelijke Neuro-Cognitieve Ontwikkelingsstoornissen, Rotterdam, Erasmus Medical Center (ENCORE)-GRIN Expertise Center, Rotterdam, the Netherlands.; Department of Pediatrics, Erasmus Medical Center (MC)-Sophia Hospital, Rotterdam, the Netherlands.; Weber S; Service de Génétique, Centre Hospitalier Universitaire (CHU) de Caen-Normandie, Caen, France.; Service de Neurologie, Centre Hospitalier Universitaire (CHU) de Caen-Normandie, Caen, France.; Weckhuysen S; Applied and Translational Neurogenomics Group, Vlaams Instituut voor Biotechnologie (VIB) Center for Molecular Neurology, Antwerp, Belgium.; Department of Neurology, Antwerp University Hospital, Antwerp, Belgium.; Zacher P; Center for Adults with Disability (MZEB), Epilepsy Center Kleinwachau, Radeberg, Germany.; Tümer Z; Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.; Rubboli G; Department of Epilepsy Genetics and Precision Medicine, Danish Epilepsy Center Filadelfia, member of the European Reference Network EpiCARE, Dianalund, Denmark.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
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
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