부산대학교 도서관

Indelicato E; Center for Rare Movement Disorders Innsbruck, Medical University Innsbruck, Innsbruck, Austria.; Carmona-Hidalgo B; Health Technology Assessment Area-AETSA, Andalusian Public Foundation for Progress and Health ('Fundación Progreso y Salud'-'FPS'), Seville, Spain.; Quintero J; Health Technology Assessment Area-AETSA, Andalusian Public Foundation for Progress and Health ('Fundación Progreso y Salud'-'FPS'), Seville, Spain.; Escobar JDO; Movement Disorders Unit, Pediatric Neurology Department, Institut de Recerca Hospital Sant Joan de Déu Barcelona, Barcelona, Spain.; U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain.; Koy A; Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Center for Rare Diseases, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Salamon A; Department of Neurology, University of Szeged, Szeged, Hungary.; Tacik P; Department of Parkinson's Disease, Sleep and Movement Disorders, University Hospital Bonn, Bonn, Germany.; Muñoz-Delgado L; Unidad de Trastornos del Movimiento, Servicio de Neurología, Instituto de Biomedicina de Sevilla, IBiS/Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Seville, Spain.; Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas, Instituto de Salud Carlos III, Madrid, Spain.; Giannini G; UOC Clinica Neurologica Rete Metropolitana NEUROMET, IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.; Department of Biomedical and NeuroMotor Sciences (DiBiNeM), Alma Mater Studiorum-University of Bologna, Italy.; Reich M; Department of Neurology, University of Würzburg, Würzburg, Germany.; Albanese A; IRCCS-Humanitas Clinical Institute of Rozzano, Milan, Italy.; Bäumer T; Institute of Systems Motor Science, CBBM, University of Lübeck, Lübeck, Germany.; Grandas F; Movement Disorders Unit-CSUR, Department of Neurology, Gregorio Marañón General University Hospital, Madrid, Spain.; Jech R; Department of Neurology, First Faculty of Medicine, General University Hospital in Prague, Charles University, Prague, Czech Republic.; Leonardos A; Department of Neurology, University of Athens, Athens, Greece.; Mir P; Unidad de Trastornos del Movimiento, Servicio de Neurología, Instituto de Biomedicina de Sevilla, IBiS/Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Seville, Spain.; Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas, Instituto de Salud Carlos III, Madrid, Spain.; Departamento de Medicina, Facultad de Medicina, Universidad de Sevilla, Seville, Spain.; Pérez-Dueñas B; Hospital Universitari Vall d'Hebron, Barcelona, Spain.; Perez-Sanchez JR; Movement Disorders Unit-CSUR, Department of Neurology, Gregorio Marañón General University Hospital, Madrid, Spain.; Valldeoriola F; Parkinson's Disease and Movement Disorders Unit, Neurology Service, Hospital Clínic de Barcelona, Barcelona, Spain.; Zanni G; Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Vidailhet M; Institut du Cerveau-Paris Brain Institute-ICM, Sorbonne Université, INSERM UMR 1127, CNRS 7225, Clinical Investigation Centre (CIC), Paris, France.; Rodríguez-López R; Health Technology Assessment Area-AETSA, Andalusian Public Foundation for Progress and Health ('Fundación Progreso y Salud'-'FPS'), Seville, Spain.; Blasco-Amaro JA; Health Technology Assessment Area-AETSA, Andalusian Public Foundation for Progress and Health ('Fundación Progreso y Salud'-'FPS'), Seville, Spain.; Reinhard C; Institute for Medical Genetics and Applied Genomics and Centre for Rare Diseases, University Hospital Tübingen, Tübingen, Germany.; Boesch S; Center for Rare Movement Disorders Innsbruck, Medical University Innsbruck, Innsbruck, Austria.

Publisher: Wiley Country of Publication: England NLM ID: 9506311 Publication Model: Print Cited Medium: Internet ISSN: 1468-1331 (Electronic) Linking ISSN: 13515101 NLM ISO Abbreviation: Eur J Neurol Subsets: MEDLINE

Pérez‐Bilbao, Txomin; López‐Tarruella, Sara; Alonso‐Dueñas, María; Juan, Alejandro F. San; Ferreres‐García, Karla; Martín, Miguel; Peinado, Ana B.; Rojo, Federico

Physiological Reports. August 26, 2025, Vol. 13 Issue 16

R. Sainz Torres; B. Pérez Dueñas

Neurology Perspectives, Vol 4, Iss , Pp 142- (2024)

Acosta-Villalobos, X.; Pérez-Dueñas, B.; Dougherty-De Miguel, L.; Bescós, A.; Ramos-Quiroga, J. A.; Loredo-Silos, M.; Delgado-Álvarez, I.; Español-Martín, G.

Eur Psychiatry

Ainara Salazar‐Villacorta; Ana Cazurro‐Gutiérrez; Lucy Dougherty‐de Miguel; Julia Ferrero‐Turrión; Anna Marcé‐Grau; Marta Folch‐Benito; Álvaro Lucero‐Garófano; Alfons Macaya; Antonio Moreno‐Galdó; Maria I. Vanegas; Marta Correa‐Vela; María Victoria González; Gemma Español‐Martín; Martha Loredo; Ignacio Delgado; Esther Toro‐Tamargo; Margarita Figueroa; Dolores Vilas; Manel Tardáguila; Jorge Muñoz; Lourdes Ispierto; Ramiro Álvarez; Agustí Bescós; Belén Pérez‐Dueñas

Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname

De Francesch V; Unidad de Neuropsiquiatría Infantil y Adolescente, AULSS1 Dolomiti, Hospital San Martino, Belluno, Italia.; Grupo de Investigación de Terapias Innovadoras en Neurología Pediátrica, Instituto de Investigación Vall d'Hebron.; Cazurro-Gutiérrez A; Grupo de Investigación de Terapias Innovadoras en Neurología Pediátrica, Instituto de Investigación Vall d'Hebron.; Departamento de Pediatría, Universidad Autónoma de Barcelona.; Timmers ER; Centro Especializado en Trastornos del Movimiento de Groninga, Departamento de Neurología, Centro Médico Universitario de Groningen, Universidad de Groningen, Groningen, Países Bajos.; Español-Martín G; Departamento de Pediatría, Universidad Autónoma de Barcelona.; Departamento de Pediatría, Neurología Pediátrica y Psiquiatría, Hospital Vall d'Hebron.; Centro de Investigación Biomédica en Red sobre Salud Mental (CIBERSAM).; Ferrero-Turrión J; Grupo de Investigación de Terapias Innovadoras en Neurología Pediátrica, Instituto de Investigación Vall d'Hebron.; Gómez-Andrés D; Grupo de Investigación de Terapias Innovadoras en Neurología Pediátrica, Instituto de Investigación Vall d'Hebron.; Departamento de Pediatría, Neurología Pediátrica y Psiquiatría, Hospital Vall d'Hebron.; Marcé-Grau A; Grupo de Investigación de Terapias Innovadoras en Neurología Pediátrica, Instituto de Investigación Vall d'Hebron.; Dougherty-de Miguel L; Grupo de Investigación de Terapias Innovadoras en Neurología Pediátrica, Instituto de Investigación Vall d'Hebron.; Departamento de Pediatría, Neurología Pediátrica y Psiquiatría, Hospital Vall d'Hebron.; González V; Grupo de Investigación de Terapias Innovadoras en Neurología Pediátrica, Instituto de Investigación Vall d'Hebron.; Departamento de Pediatría, Neurología Pediátrica y Psiquiatría, Hospital Vall d'Hebron.; Moreno-Galdó A; Departamento de Pediatría, Universidad Autónoma de Barcelona.; Departamento de Pediatría, Neurología Pediátrica y Psiquiatría, Hospital Vall d'Hebron.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER).; Tijssen MAJ; Centro Especializado en Trastornos del Movimiento de Groninga, Departamento de Neurología, Centro Médico Universitario de Groningen, Universidad de Groningen, Groningen, Países Bajos.; Red Europea de Referencia de Enfermedades Neurológicas Raras (ERN-RND).; Pérez-Dueñas B; Grupo de Investigación de Terapias Innovadoras en Neurología Pediátrica, Instituto de Investigación Vall d'Hebron.; Departamento de Pediatría, Universidad Autónoma de Barcelona.; Departamento de Pediatría, Neurología Pediátrica y Psiquiatría, Hospital Vall d'Hebron.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER).; Red Europea de Referencia de Enfermedades Neurológicas Raras (ERN-RND).

Publisher: Blackwell Country of Publication: England NLM ID: 0006761 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1469-8749 (Electronic) Linking ISSN: 00121622 NLM ISO Abbreviation: Dev Med Child Neurol Subsets: MEDLINE

De Francesch V; Child and Adolescent Neuropsychiatry Unit, AULSS1 Dolomiti, San Martino Hospital, Belluno, Italy.; Innovative Therapies in Pediatric Neurology Research Group, Vall d'Hebron Research Institute, Barcelona, Spain.; Cazurro-Gutiérrez A; Innovative Therapies in Pediatric Neurology Research Group, Vall d'Hebron Research Institute, Barcelona, Spain.; Department of Pediatrics, Universitat Autònoma de Barcelona, Barcelona, Spain.; Timmers ER; Expertise Centre Movement Disorders Groningen, Department of Neurology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.; Español-Martín G; Department of Pediatrics, Universitat Autònoma de Barcelona, Barcelona, Spain.; Department of Pediatrics, Pediatric Neurology and Psychiatry, Vall d'Hebron Hospital, Barcelona, Spain.; Biomedical Research Networking Center on Rare Diseases, Madrid, Spain.; Ferrero-Turrión J; Innovative Therapies in Pediatric Neurology Research Group, Vall d'Hebron Research Institute, Barcelona, Spain.; Gómez-Andrés D; Innovative Therapies in Pediatric Neurology Research Group, Vall d'Hebron Research Institute, Barcelona, Spain.; Department of Pediatrics, Pediatric Neurology and Psychiatry, Vall d'Hebron Hospital, Barcelona, Spain.; Marcé-Grau A; Innovative Therapies in Pediatric Neurology Research Group, Vall d'Hebron Research Institute, Barcelona, Spain.; Dougherty-de Miguel L; Innovative Therapies in Pediatric Neurology Research Group, Vall d'Hebron Research Institute, Barcelona, Spain.; Department of Pediatrics, Pediatric Neurology and Psychiatry, Vall d'Hebron Hospital, Barcelona, Spain.; González V; Innovative Therapies in Pediatric Neurology Research Group, Vall d'Hebron Research Institute, Barcelona, Spain.; Department of Pediatrics, Pediatric Neurology and Psychiatry, Vall d'Hebron Hospital, Barcelona, Spain.; Moreno-Galdó A; Department of Pediatrics, Universitat Autònoma de Barcelona, Barcelona, Spain.; Department of Pediatrics, Pediatric Neurology and Psychiatry, Vall d'Hebron Hospital, Barcelona, Spain.; Biomedical Research Networking Center on Mental Health, Madrid, Spain.; Tijssen MAJ; Expertise Centre Movement Disorders Groningen, Department of Neurology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.; European Reference Network for Rare Neurological Diseases, Tübingen, Germany.; Pérez-Dueñas B; Innovative Therapies in Pediatric Neurology Research Group, Vall d'Hebron Research Institute, Barcelona, Spain.; Department of Pediatrics, Universitat Autònoma de Barcelona, Barcelona, Spain.; Department of Pediatrics, Pediatric Neurology and Psychiatry, Vall d'Hebron Hospital, Barcelona, Spain.; Biomedical Research Networking Center on Rare Diseases, Madrid, Spain.; European Reference Network for Rare Neurological Diseases, Tübingen, Germany.

Publisher: Blackwell Country of Publication: England NLM ID: 0006761 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1469-8749 (Electronic) Linking ISSN: 00121622 NLM ISO Abbreviation: Dev Med Child Neurol Subsets: MEDLINE

Reifarth, R.; Altstadt, S.; Göbel, K.; Heftrich, T.; Heil, M.; Koloczek, A.; Langer, C.; Plag, R.; Pohl, M.; Sonnabend, K.; Weigand, M.; Adachi, T.; Aksouh, F.; Al-Khalili, J.; AlGarawi, M.; AlGhamdi, S.; Alkhazov, G.; Alkhomashi, N.; Alvarez-Pol, H.; Alvarez-Rodriguez, R.; Andreev, V.; Andrei, B.; Atar, L.; Aumann, T.; Avdeichikov, V.; Bacri, C.; Bagchi, S.; Barbieri, C.; Beceiro, S.; Beck, C.; Beinrucker, C.; Belier, G.; Bemmerer, D.; Bendel, M.; Benlliure, J.; Benzoni, G.; Berjillos, R.; Bertini, D.; Bertulani, C.; Bishop, S.; Blasi, N.; Bloch, T.; Blumenfeld, Y.; Bonaccorso, A.; Boretzky, K.; Botvina, A.; Boudard, A.; Boutachkov, P.; Boztosun, I.; Bracco, A.; Brambilla, S.; Monago, J. Briz; Caamano, M.; Caesar, C.; Camera, F.; Casarejos, E.; Catford, W.; Cederkall, J.; Cederwall, B.; Chartier, M.; Chatillon, A.; Cherciu, M.; Chulkov, L.; Coleman-Smith, P.; Cortina-Gil, D.; Crespi, F.; Crespo, R.; Cresswell, J.; Csatlós, M.; Déchery, F.; Davids, B.; Davinson, T.; Derya, V.; Detistov, P.; Fernandez, P. Diaz; DiJulio, D.; Dmitry, S.; Doré, D.; Duenas, J.; Dupont, E.; Egelhof, P.; Egorova, I.; Elekes, Z.; Enders, J.; Endres, J.; Ershov, S.; Ershova, O.; Fernandez-Dominguez, B.; Fetisov, A.; Fiori, E.; Fomichev, A.; Fonseca, M.; Fraile, L.; Freer, M.; Friese, J.; Borge, M. G.; Redondo, D. Galaviz; Gannon, S.; Garg, U.; Gasparic, I.; Gasques, L.; Gastineau, B.; Geissel, H.; Gernhäuser, R.; Ghosh, T.; Gilbert, M.; Glorius, J.; Golubev, P.; Gorshkov, A.; Gourishetty, A.; Grigorenko, L.; Gulyas, J.; Haiduc, M.; Hammache, F.; Harakeh, M.; Hass, M.; Heine, M.; Hennig, A.; Henriques, A.; Herzberg, R.; Holl, M.; Ignatov, A.; Ignatyuk, A.; Ilieva, S.; Ivanov, M.; Iwasa, N.; Jakobsson, B.; Johansson, H.; Jonson, B.; Joshi, P.; Junghans, A.; Jurado, B.; Körner, G.; Kalantar, N.; Kanungo, R.; Kelic-Heil, A.; Kezzar, K.; Khan, E.; Khanzadeev, A.; Kiselev, O.; Kogimtzis, M.; Körper, D.; Kräckmann, S.; Kröll, T.; Krücken, R.; Krasznahorkay, A.; Kratz, J.; Kresan, D.; Krings, T.; Krumbholz, A.; Krupko, S.; Kulessa, R.; Kumar, S.; Kurz, N.; Kuzmin, E.; Labiche, M.; Langanke, K.; Lazarus, I.; Bleis, T. Le; Lederer, C.; Lemasson, A.; Lemmon, R.; Liberati, V.; Litvinov, Y.; Löher, B.; Herraiz, J. Lopez; Münzenberg, G.; Machado, J.; Maev, E.; Mahata, K.; Mancusi, D.; Marganiec, J.; Perez, M. Martinez; Marusov, V.; Mengoni, D.; Million, B.; Morcelle, V.; Moreno, O.; Movsesyan, A.; Nacher, E.; Najafi, M.; Nakamura, T.; Naqvi, F.; Nikolski, E.; Nilsson, T.; Nociforo, C.; Nolan, P.; Novatsky, B.; Nyman, G.; Ornelas, A.; Palit, R.; Pandit, S.; Panin, V.; Paradela, C.; Parkar, V.; Paschalis, S.; Pawłowski, P.; Perea, A.; Pereira, J.; Petrache, C.; Petri, M.; Pickstone, S.; Pietralla, N.; Pietri, S.; Pivovarov, Y.; Potlog, P.; Prokofiev, A.; Rastrepina, G.; Rauscher, T.; Ribeiro, G.; Ricciardi, M.; Richter, A.; Rigollet, C.; Riisager, K.; Rios, A.; Ritter, C.; Frutos, T. Rodríguez; Vignote, J. Rodriguez; Röder, M.; Romig, C.; Rossi, D.; Roussel-Chomaz, P.; Rout, P.; Roy, S.; Söderström, P.; Sarkar, M. Saha; Sakuta, S.; Salsac, M.; Sampson, J.; Saez, J. Sanchez del Rio; Rosado, J. Sanchez; Sanjari, S.; Sarriguren, P.; Sauerwein, A.; Savran, D.; Scheidenberger, C.; Scheit, H.; Schmidt, S.; Schmitt, C.; Schnorrenberger, L.; Schrock, P.; Schwengner, R.; Seddon, D.; Sherrill, B.; Shrivastava, A.; Sidorchuk, S.; Silva, J.; Simon, H.; Simpson, E.; Singh, P.; Slobodan, D.; Sohler, D.; Spieker, M.; Stach, D.; Stan, E.; Stanoiu, M.; Stepantsov, S.; Stevenson, P.; Strieder, F.; Stuhl, L.; Suda, T.; Sümmerer, K.; Streicher, B.; Taieb, J.; Takechi, M.; Tanihata, I.; Taylor, J.; Tengblad, O.; Ter-Akopian, G.; Terashima, S.; Teubig, P.; Thies, R.; Thoennessen, M.; Thomas, T.; Thornhill, J.; Thungstrom, G.; Timar, J.; Togano, Y.; Tomohiro, U.; Tornyi, T.; Tostevin, J.; Townsley, C.; Trautmann, W.; Trivedi, T.; Typel, S.; Uberseder, E.; Udias, J.; Uesaka, T.; Uvarov, L.; Vajta, Z.; Velho, P.; Vikhrov, V.; Volknandt, M.; Volkov, V.; von Neumann-Cosel, P.; von Schmid, M.; Wagner, A.; Wamers, F.; Weick, H.; Wells, D.; Westerberg, L.; Wieland, O.; Wiescher, M.; Wimmer, C.; Wimmer, K.; Winfield, J. S.; Winkel, M.; Woods, P.; Wyss, R.; Yakorev, D.; Yavor, M.; Cardona, J. Zamora; Zartova, I.; Zerguerras, T.; Zgura, I.; Zhdanov, A.; Zhukov, M.; Zieblinski, M.; Zilges, A.; Zuber, K.

Journal of Physics: Conference Series 665 (2016) 012044

Garriga-Edo S; Clinical Biochemistry Department, Vall d'Hebron University Hospital, Barcelona, Spain.; Biochemical Chemistry, Drug Delivery and Therapy (BC-DDT) and Clinical Biochemistry Research Group, Vall d'Hebron Reasearch Institute (VHIR), Barcelona, Spain.; Peris-Serra L; Clinical Biochemistry Department, Vall d'Hebron University Hospital, Barcelona, Spain.; Biochemical Chemistry, Drug Delivery and Therapy (BC-DDT) and Clinical Biochemistry Research Group, Vall d'Hebron Reasearch Institute (VHIR), Barcelona, Spain.; Ríos Duro H; Paediatric Nephrology Service, Vall d'Hebron University Hospital, Barcelona, Spain.; Biomedical Research Networking Center on Rare Diseases (CIBERER), Autonomous University of Barcelona (UAB), Barcelona, Spain.; Giralt M; Clinical Biochemistry Department, Vall d'Hebron University Hospital, Barcelona, Spain.; Biochemical Chemistry, Drug Delivery and Therapy (BC-DDT) and Clinical Biochemistry Research Group, Vall d'Hebron Reasearch Institute (VHIR), Barcelona, Spain.; Díaz-Troyano N; Clinical Biochemistry Department, Vall d'Hebron University Hospital, Barcelona, Spain.; Biochemical Chemistry, Drug Delivery and Therapy (BC-DDT) and Clinical Biochemistry Research Group, Vall d'Hebron Reasearch Institute (VHIR), Barcelona, Spain.; Ferrer R; Clinical Biochemistry Department, Vall d'Hebron University Hospital, Barcelona, Spain.; Biochemical Chemistry, Drug Delivery and Therapy (BC-DDT) and Clinical Biochemistry Research Group, Vall d'Hebron Reasearch Institute (VHIR), Barcelona, Spain.; Biochemistry and Molecular Biology Department, Autonomous University of Barcelona (UAB), Barcelona, Spain.; Antolín Mate M; Molecular and Clinical Genetics Unit, Genetics Department, Vall d'Hebron University Hospital, Barcelona, Spain.; Pérez Dueñas B; Biomedical Research Networking Center on Rare Diseases (CIBERER), Autonomous University of Barcelona (UAB), Barcelona, Spain.; Paediatric Neurology department, Vall d'Hebron University Hospital, Barcelona, Spain.; Clemente M; Biomedical Research Networking Center on Rare Diseases (CIBERER), Autonomous University of Barcelona (UAB), Barcelona, Spain.; Paediatric Endocrinology Unit, Pediatrics Department, Vall d'Hebron University Hospital, Barcelona, Spain.

Publisher: Karger AG Country of Publication: Switzerland NLM ID: 101636294 Publication Model: eCollection Cited Medium: Print ISSN: 2296-9705 (Print) NLM ISO Abbreviation: Case Rep Nephrol Dial Subsets: PubMed not MEDLINE

Pérez-Bilbao, Txomin; Alonso-Dueñas, María; Peinado, Ana B.; San Juan, Alejandro F.

Nutrients. February, 2023, Vol. 15 Issue 4

Molero M; Serrano M; O'Callaghan-Gordo M; Sierra-March C; Pérez-Dueñas B; Garcia-Cazorla A; Artuch-Iriberri R

EXPERT REVIEW OF NEUROTHERAPEUTICS
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu

Lasa-Aranzasti A; Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Barcelona, Spain.; Pediatric Neurology Research Group, Vall d'Hebron Research Institute (VHIR), Autonomous University of Barcelona, Barcelona, Spain.; Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Autonomous University of Barcelona, Barcelona, Spain.; Department of Pediatrics, Faculty of Medicine, Universitat Autònoma de Barcelona, Barcelona, Spain.; European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability ERN-ITHACA, Paris, France.; Larasati YA; Translational Research Centre in Oncohaematology, Department of Cell Physiology and Metabolism, Faculty of Medicine, University of Geneva, Geneva, Switzerland.; da Silva Cardoso J; Pediatric Neurology Research Group, Vall d'Hebron Research Institute (VHIR), Autonomous University of Barcelona, Barcelona, Spain.; Serviço de Pediatria do Centro Materno infantil do Norte, Centro Hospitalar Universitário de Santo António, Porto, Portugal.; Solis GP; Translational Research Centre in Oncohaematology, Department of Cell Physiology and Metabolism, Faculty of Medicine, University of Geneva, Geneva, Switzerland.; Koval A; Translational Research Centre in Oncohaematology, Department of Cell Physiology and Metabolism, Faculty of Medicine, University of Geneva, Geneva, Switzerland.; Cazurro-Gutiérrez A; Pediatric Neurology Research Group, Vall d'Hebron Research Institute (VHIR), Autonomous University of Barcelona, Barcelona, Spain.; Department of Pediatrics, Faculty of Medicine, Universitat Autònoma de Barcelona, Barcelona, Spain.; Ortigoza-Escobar JD; Movement Disorders Unit, Department of Child Neurology, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; U-703 Center for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain.; European Reference Network-Rare Neurological Diseases (ERN-RND), Barcelona, Spain.; Miranda MC; European Reference Network-Rare Neurological Diseases (ERN-RND), Barcelona, Spain.; Department of Pediatrics Hospital General Universitario Gregorio Marañón, Madrid, Spain.; Instituto de Investigación Sanitaria Gregorio Marañón, Madrid, Spain.; De la Casa-Fages B; European Reference Network-Rare Neurological Diseases (ERN-RND), Barcelona, Spain.; Instituto de Investigación Sanitaria Gregorio Marañón, Madrid, Spain.; Movement Disorders Unit, Neurology Department, Hospital General Universitario Gregorio Marañón, Madrid, Spain.; Moreno-Galdó A; Department of Pediatrics, Universitat Autónoma de Barcelona, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; CIBER of Rare diseases (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain.; Tizzano EF; Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Barcelona, Spain.; Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Autonomous University of Barcelona, Barcelona, Spain.; European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability ERN-ITHACA, Paris, France.; Gómez-Andrés D; Pediatric Neurology Research Group, Vall d'Hebron Research Institute (VHIR), Autonomous University of Barcelona, Barcelona, Spain.; European Reference Network-Rare Neurological Diseases (ERN-RND), Barcelona, Spain.; Department of Neurology, Vall Hebron University Hospital Barcelona, Barcelona, Spain.; Verdura E; Pediatric Neurology Research Group, Vall d'Hebron Research Institute (VHIR), Autonomous University of Barcelona, Barcelona, Spain.; Katanaev VL; Translational Research Centre in Oncohaematology, Department of Cell Physiology and Metabolism, Faculty of Medicine, University of Geneva, Geneva, Switzerland.; School of Medicine and Life Sciences, Far Eastern Federal University, Vladivostok, Russia.; Pérez-Dueñas B; Pediatric Neurology Research Group, Vall d'Hebron Research Institute (VHIR), Autonomous University of Barcelona, Barcelona, Spain.; Department of Pediatrics, Faculty of Medicine, Universitat Autònoma de Barcelona, Barcelona, Spain.; European Reference Network-Rare Neurological Diseases (ERN-RND), Barcelona, Spain.; Department of Pediatrics, Universitat Autónoma de Barcelona, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; CIBER of Rare diseases (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain.

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8610688 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8257 (Electronic) Linking ISSN: 08853185 NLM ISO Abbreviation: Mov Disord Subsets: MEDLINE

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Annals of Neurology. 86(2):225-240

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In: Nature Communications. (Nature Communications, December 2025, 16(1))

Lasa-Aranzasti A; Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Barcelona, Spain.; Pediatric Neurology Research Group, Vall d'Hebron Research Institute (VHIR), Autonomous University of Barcelona, Barcelona, Spain.; Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Autonomous University of Barcelona, Barcelona, Spain.; Department of Pediatrics, Faculty of Medicine, Universitat Autònoma de Barcelona, Barcelona, Spain.; European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability ERN-ITHACA, Tübingen, Germany.; Solis GP; Translational Research Centre in Oncohaematology, Department of Cell Physiology and Metabolism, Faculty of Medicine, University of Geneva, Geneva, Switzerland.; Katanaev VL; Translational Research Centre in Oncohaematology, Department of Cell Physiology and Metabolism, Faculty of Medicine, University of Geneva, Geneva, Switzerland.; School of Medicine and Life Sciences, Far Eastern Federal University, Vladivostok, Russia.; Pérez-Dueñas B; Pediatric Neurology Research Group, Vall d'Hebron Research Institute (VHIR), Autonomous University of Barcelona, Barcelona, Spain.; Department of Pediatrics, Faculty of Medicine, Universitat Autònoma de Barcelona, Barcelona, Spain.; Department of Pediatric Neurology, Vall Hebron University Hospital Barcelona, Barcelona, Spain.; European Reference Network-Rare Neurological Diseases (ERN-RND), Tübingen, Germany.; CIBER of Rare Diseases (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain.

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8610688 Publication Model: Print Cited Medium: Internet ISSN: 1531-8257 (Electronic) Linking ISSN: 08853185 NLM ISO Abbreviation: Mov Disord Subsets: MEDLINE; In Process

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