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

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Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Epilepsia, vol 64, iss 2

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C.; Steyaert, Wouter; Kamsteeg, Erik-Jan; van de Warrenburg, Bart; van Os, Nienke; Paske, Iris te; Janssen, Erik; Steehouwer, Marloes; Neveling, Kornelia; van der Sanden, Bart; Sagath, Lydia; Kleefstra, Tjitske; Brookes, Anthony J.; Gibson, Spencer; Riaz, Umar; Warren, Greg; Nalagandla, Sai Anuhya; Wang, Yunze Patrick; Sukumaran, Deepthi; Abadijou, Sadegh; Straub, Volker; Bettolo, Chiara Marini; Manera, Jordi Diaz; Hambleton, Sophie; Engelhardt, Karin; Clayton-Smith, Jill; Banka, Siddharth; Alexander, Elizabeth; Jackson, Adam; Faivre, Laurence; Thauvin, Christel; Vitobello, Antonio; Denommé-Pichon, Anne-Sophie; Duffourd, Yannis; Bruel, Ange-Line; Couturier, Victor; Gut, Ivo Glynne; Piscia, Davide; Matalonga, Leslie; Papakonstantinou, Anastasios; Corvo, Alberto; Fernandez-Callejo, Marcos; Hernández, Carles; Picó, Daniel; Codina, Anna Esteve; Dabad, Marc; Gut, Marta; Raineri, Emanuele; Gumus, Gulcin; Bros-Facer, Virginie; Rath, Ana; Hanauer, Marc; Lagorce, David; Hongnat, Oscar; Chahdil, Maroua; Lucano, Caterina; Lebreton, Emeline; Stevanin, Giovanni; Durr, Alexandra; Davoine, Claire-Sophie; Guillot-Noel, Léna; Heinzmann, Anna; Coarelli, Giulia; Bonne, Gisèle; Evangelista, Teresinha; Allamand, Valérie; Nelson, Isabelle; Ben Yaou, Rabah; Metay, Corinne; Eymard, Bruno; Cohen, Enzo; Atalaia, Antonio; Stojkovic, Tanya; Macek, Milan; Turnovec, Marek; Thomasová, Dana; Kremliková, Radka Pourová; Franková, Vera; Havlovicová, Markéta; Ryba, Lukáš; Lišková, Petra; Doležalová, Pavla; Krebsová, Alice; Parkinson, Helen; Keane, Thomas; Freeberg, Mallory; Thomas, Coline; Spalding, Dylan; Robinson, Peter; Danis, Daniel; Robert, Glenn; Costa, Alessia; Hanna, Mike; Houlden, Henry; Reilly, Mary; Vandrovcova, Jana; Efthymiou, Stephanie; Morsy, Heba; Cali, Elisa; Magrinelli, Francesca; Sisodiya, Sanjay M.; Bellampalli, Ravishankara; Moloney, Patrick; Rohrer, Jonathan; Muntoni, Francesco; Zaharieva, Irina; Sarkozy, Anna; Perry, Luke; Pini, Veronica; Müller, Juliane; Timmerman, Vincent; Baets, Jonathan; de Vries, Geert; De Winter, Jonathan; de Jonghe, Peter; De Ridder, Willem; Weckhuysen, Sarah; Stamberger, Hannah; Millevert, Charissa; Smal, Noor; Nigro, Vincenzo; Morleo, Manuela; Pinelli, Michele; Banfi, Sandro; Torella, Annalaura; Zeuli, Roberta; Zanobio, Mariateresa; Piluso, Giulio; Ferlini, Alessandra; Selvatici, Rita; Gualandi, Francesca; Bigoni, Stefania; Neri, Marcella; Aretz, Stefan; Spier, Isabel; Sommer, Anna Katharina; Peters, Sophia; Barbosa-Matos, Rita; José, Celina São; Ferreira, Marta; Gullo, Irene; Fernandes, Susana; Garrido, Luzia; Ferreira, Pedro; Carneiro, Fátima; Swertz, Morris A.; van der Velde, Joeri K.; van der Vries, Gerben; Neerincx, Pieter B.; Roelofs-Prins, Dieuwke; Ruvolo, David; van Gijn, Marielle; Abbott, Kristin M.; Kerstjens Frederikse, Wilhemina S.; Zonneveld-Huijssoon, Eveline; Köhler, Sebastian; Metcalfe, Alison; Moore, Richard; Verloes, Alain; Drunat, Séverine; Heron, Delphine; Mignot, Cyril; Keren, Boris; de Sainte Agathe, Jean-Madeleine; Jamra, Rami Abou; Abramowicz, Marc; Kiliçarslan, Özge Aksel; Allen, Nicholas; Javier Alonso García de la Rosa, Francisco; Balestrini, Simona; Balicza, Peter; Bartolomaeus, Tobias; Başak, Ayşe Nazl; Masó, Laura Batlle; Beeson, David; Benoit, Valerie; Benson, Katherine; Sánchez, Eva Bermejo; Bijlsma, Emilia K.; Bogaert, Elke; Bourbouli, Mara; Boztug, Kaan; Brohée, Sylvain; Byrne, Susan; Garcia de Oteyza, Andrés Caballero; Capella, Gabriel; Carpancea, Evelina; Cavalleri, Gianpiero; Cazurro-Gutiérrez, Ana; Chinnery, Patrick F.; Cilio, Maria-Roberta; Ciolfi, Andrea; Claeys, Kristl; Colobran, Roger; Cordts, Isabell; Cossins, Judith; Dahan, Karin; Dallapiccola, Bruno; Delanty, Norman; Depienne, Christel; Depondt, Chantal; Dermaut, Bart; Deschauer, Marcus; Desir, Julie; Destrée, Anne; Drakos, Minas; Duerinckx, Sarah; Estevez, Berta; Evangeliou, Athanasios; Fallerini, Chiara; Ferilli, Marco; Furini, Simone; Gagneur, Julien; Ghani, Hamidah; Greally, Marie; Grimbacher, Bodo; Guerrini, Renzo; Hackman, Peter; Haimel, Matthias; Bouveret, Eva Hammar; Hemelsoet, Dimitri; Herzog, Rebecca; Hoffer, Mariette J. 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NPJ Genom Med
npj Genomic Medicine, Vol 9, Iss 1, Pp 1-24 (2024)
NPJ Genomic Medicine, 9, 1, pp. 49
NPJ genomic medicine, Vol. 9, no.1, p. 49 [1-24] (2024)
Npj genomic medicine
npj Genomic Medicine, 9(1):49
Solve-RD consortium 2024, 'Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses', NPJ Genomic Medicine, vol. 9, no. 1, 49, pp. 49. https://doi.org/10.1038/s41525-024-00436-6

Stephanie Efthymiou; Vincenzo Salpietro; Nancy Malintan; Mallory Poncelet; Yamna Kriouile; Sara Fortuna; Rita De Zorzi; Katelyn Payne; Lindsay B Henderson; Andrea Cortese; Sateesh Maddirevula; Nadia Alhashmi; Sarah Wiethoff; Mina Ryten; Juan A Botia; Vincenzo Provitera; Markus Schuelke; Jana Vandrovcova; Stanislav Groppa; Blagovesta Marinova Karashova; Wolfgang Nachbauer; Sylvia Boesch; Larissa Arning; Dagmar Timmann; Bru Cormand; Belen Pérez-Dueñas; Jatinder S Goraya; Tipu Sultan; Jun Mine; Daniela Avdjieva; Hadil Kathom; Radka Tincheva; Selina Banu; Mercedes Pineda-Marfa; Pierangelo Veggiotti; Michel D Ferrari; Arn M J M van den Maagdenberg; Alberto Verrotti; Giangluigi Marseglia; Salvatore Savasta; Mayte García-Silva; Alfons Macaya Ruiz; Barbara Garavaglia; Eugenia Borgione; Simona Portaro; Benigno Monteagudo Sanchez; Richard Boles; Savvas Papacostas; Michail Vikelis; James Rothman; Dimitri Kullmann; Eleni Zamba Papanicolaou; Efthymios Dardiotis; Shazia Maqbool; Shahnaz Ibrahim; Salman Kirmani; Nuzhat Noureen Rana; Osama Atawneh; Shen-Yang Lim; Farooq Shaikh; George Koutsis; Marianthi Breza; Salvatore Mangano; Carmela Scuderi; Giovanna Morello; Tanya Stojkovic; Massimo Zollo; Gali Heimer; Yves A Dauvilliers; Carlo Minetti; Issam Al-Khawaja; Fuad Al-Mutairi; Sherifa Hamed; Menelaos Pipis; Conceicao Bettencourt; Simon Rinaldi; Laurence Walsh; Erin Torti; Valeria Iodice; Maryam Najafi; Ehsan Ghayoor Karimiani; Reza Maroofian; Karine Siquier-Pernet; Nathalie Boddaert; Pascale De Lonlay; Vincent Cantagrel; Mhammed Aguennouz; Mohamed El Khorassani; Miriam Schmidts; Fowzan S Alkuraya; Simon Edvardson; Maria Nolano; Jérôme Devaux; Henry Houlden

Brain

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M.; Steyaert, Wouter; Sablauskas, Karolis; de Voer, Richarda M.; Kamsteeg, Erik-Jan; van de Warrenburg, Bart; van Os, Nienke; te Paske, Iris; Janssen, Erik; de Boer, Elke; Steehouwer, Marloes; Kleefstra, Tjitske; Brookes, Anthony J.; Veal, Colin; Gibson, Spencer; Maddi, Vatsalya; Mehtarizadeh, Mehdi; Riaz, Umar; Warren, Greg; Dizjikan, Farid Yavari; Shorter, Thomas; Töpf, Ana; Straub, Volker; Bettolo, Chiara Marini; Manera, Jordi Diaz; Hambleton, Sophie; Engelhardt, Karin; Clayton-Smith, Jill; Banka, Siddharth; Alexander, Elizabeth; Jackson, Adam; Faivre, Laurence; Thauvin, Christel; Vitobello, Antonio; Denommé-Pichon, Anne-Sophie; Duffourd, Yannis; Bruel, Ange-Line; Peyron, Christine; Pélissier, Aurore; Beltran, Sergi; Gut, Ivo Glynne; Laurie, Steven; Piscia, Davide; Matalonga, Leslie; Papakonstantinou, Anastasios; Bullich, Gemma; Corvo, Alberto; Fernandez-Callejo, Marcos; Hernández, Carles; Picó, Daniel; Paramonov, Ida; Lochmüller, Hanns; Gumus, Gulcin; Bros-Facer, Virginie; Rath, Ana; Hanauer, Marc; Lagorce, David; Hongnat, Oscar; Chahdil, Maroua; Lebreton, Emeline; Stevanin, Giovanni; Durr, Alexandra; Davoine, Claire-Sophie; Guillot-Noel, Léna; Heinzmann, Anna; Coarelli, Giulia; Bonne, Gisèle; Evangelista, Teresinha; Allamand, Valérie; Nelson, Isabelle; Yaou, Rabah Ben; Metay, Corinne; Eymard, Bruno; Cohen, Enzo; Atalaia, Antonio; Stojkovic, Tanya; Macek, Milan; Turnovec, Marek; Thomasová, Dana; Kremliková, Radka Pourová; Franková, Vera; Havlovicová, Markéta; Lišková, Petra; Doležalová, Pavla; Parkinson, Helen; Keane, Thomas; Freeberg, Mallory; Thomas, Coline; Spalding, Dylan; Robinson, Peter; Danis, Daniel; Robert, Glenn; Costa, Alessia; Patch, Christine; Hanna, Mike; Houlden, Henry; Reilly, Mary; Vandrovcova, Jana; Efthymiou, Stephanie; Morsy, Heba; Cali, Elisa; Magrinelli, Francesca; Sisodiya, Sanjay M.; Rohrer, Jonathan; Muntoni, Francesco; Zaharieva, Irina; Sarkozy, Anna; Timmerman, Vincent; Baets, Jonathan; de Vries, Geert; De Winter, Jonathan; Beijer, Danique; de Jonghe, Peter; Van de Vondel, Liedewei; De Ridder, Willem; Weckhuysen, Sarah; Nigro, Vincenzo; Mutarelli, Margherita; Morleo, Manuela; Pinelli, Michele; Varavallo, Alessandra; Banfi, Sandro; Torella, Annalaura; Musacchia, Francesco; Piluso, Giulio; Ferlini, Alessandra; Selvatici, Rita; Gualandi, Francesca; Bigoni, Stefania; Rossi, Rachele; Neri, Marcella; Aretz, Stefan; Spier, Isabel; Sommer, Anna Katharina; Peters, Sophia; Oliveira, Carla; Pelaez, Jose Garcia; Matos, Ana Rita; José, Celina São; Ferreira, Marta; Gullo, Irene; Fernandes, Susana; Garrido, Luzia; Ferreira, Pedro; Carneiro, Fátima; Swertz, Morris A.; Johansson, Lennart; van der Velde, Joeri K.; van der Vries, Gerben; Neerincx, Pieter B.; Ruvolo, David; Abbott, Kristin M.; Frederikse, Wilhemina SKerstjens; Zonneveld-Huijssoon, Eveline; Roelofs-Prins, Dieuwke; van Gijn, Marielle; Köhler, Sebastian; Metcalfe, Alison; Verloes, Alain; Drunat, Séverine; Heron, Delphine; Mignot, Cyril; Keren, Boris; de Sainte Agathe, Jean-Madeleine; Rooryck, Caroline; Lacombe, Didier; Trimouille, Aurelien; De la Paz, Manuel Posada; Sánchez, Eva Bermejo; Martín, Estrella López; Delgado, Beatriz Martínez; de la Rosa, F. Javier Alonso García; Ciolfi, Andrea; Dallapiccola, Bruno; Pizzi, Simone; Radio, Francesca Clementina; Tartaglia, Marco; Renieri, Alessandra; Furini, Simone; Fallerini, Chiara; Benetti, Elisa; Balicza, Peter; Molnar, Maria Judit; Maver, Ales; Peterlin, Borut; Münchau, Alexander; Lohmann, Katja; Herzog, Rebecca; Pauly, Martje; Macaya, Alfons; Cazurro-Gutiérrez, Ana; Pérez-Dueñas, Belén; Munell, Francina; Jarava, Clara Franco; Masó, Laura Batlle; Marcé-Grau, Anna; Colobran, Roger; Osorio, Andrés Nascimento; de Benito, Daniel Natera; Thompson, Rachel; Polavarapu, Kiran; Grimbacher, Bodo; Beeson, David; Cossins, Judith; Hackman, Peter; Johari, Mridul; Savarese, Marco; Udd, Bjarne; Horvath, Rita; Chinnery, Patrick F.; Ratnaike, Thiloka; Gao, Fei; Schon, Katherine; Capella, Gabriel; Valle, Laura; Holinski-Feder, Elke; Laner, Andreas; Steinke-Lange, Verena; Schröck, Evelin; Rump, Andreas; Başak, Ayşe Nazlı; Hemelsoet, Dimitri; Dermaut, Bart; Schuermans, Nika; Poppe, Bruce; Verdin, Hannah; Mei, Davide; Vetro, Annalisa; Balestrini, Simona; Guerrini, Renzo; Claeys, Kristl; Santen, Gijs W. 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Hum Genomics
Human Genomics, Vol 17, Iss 1, Pp 1-9 (2023)
Human Genomics, 17, 1, pp. 39
Human genomics
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HUMAN GENOMICS
Human Genomics

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

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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

Vanegas, Maria I. ; Marcé-Grau, Anna ; Martí-Sánchez, Laura ; Mellid, Sara ; Baide-Mairena, Heidy ; Correa-Vela, Marta ; Cazurro, Anna ; Rodríguez, Carla ; Toledo, Laura ; Fernández-Ramos, Joaquín Alejandro ; Pons, Roser ; Aguilera-Albesa, Sergio ; Martí, Maria José ; Eiris, Jesús ; Iglesias, Gema ; De Fabregues, Oriol ; Maqueda, Elena ; Garriz-Luis, Maite ; Madruga, Marcos ; Espinós, Carmen ; Macaya, Alfons ; Cabrera, José Carlos ; Pérez-Dueñas, Belén

In Parkinsonism and Related Disorders November 2020 80:165-174

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

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