Belén Pérez-Dueñas

Anna Marcé-Grau 8 collaborations

Alfons Macaya 7 collaborations

Carmen Espinós 7 collaborations

Marta Correa-Vela 6 collaborations

Sergio Aguilera-Albesa 6 collaborations

Heidy Baide-Mairena 5 collaborations

Ana Cazurro-Gutiérrez 5 collaborations

Rafael Artuch 5 collaborations

Vincenzo Lupo 4 collaborations

Paula Sancho 4 collaborations

Alejandra Darling 4 collaborations

Laura Marti-Sánchez 3 collaborations

Nerea Gorría-Redondo 3 collaborations

Dolores Martínez-Rubio 3 collaborations

Antonio Moreno-Galdó 3 collaborations

None None 3 collaborations

Roser Pons 3 collaborations

Juan D Ortigoza-Escobar 3 collaborations

Alison Jenkins 2 collaborations

Cristina Tello 2 collaborations

Belén Pérez 2 collaborations

Eduardo López-Laso 2 collaborations

Joanne Ng 2 collaborations

Esther Meyer 2 collaborations

Manju A Kurian 2 collaborations

Amparo Andrés-Bordería 2 collaborations

Ana Sánchez-Monteagudo 2 collaborations

Ignacio Delgado 2 collaborations

Alfons Macaya-Ruiz 2 collaborations

Russell C Dale 2 collaborations

Mireia Del Toro 2 collaborations

Laura Martí-Sánchez 2 collaborations

Marcos Madruga 2 collaborations

Daniel Cuadras 2 collaborations

Juan Dario Ortigoza-Escobar 2 collaborations

Vincenzo Leuzzi 2 collaborations

Clara Marco-Marín 2 collaborations

Jordi Muchart 2 collaborations

Mercedes Serrano 2 collaborations

Marta Montpeyó 1 collaboration

Jorge Hernández-Vara 1 collaboration

Sandra Fernández-Rodríguez 1 collaboration

Laura Ramírez-Jiménez 1 collaboration

Ángel Sánchez-Montáñez 1 collaboration

María J Sobrido 1 collaboration

Marta Martinez-Vicente 1 collaboration

Silvia Pata 1 collaboration

Katherine Flores-Rojas 1 collaboration

Angel Gil 1 collaboration

Heydi Baide-Mairena 1 collaboration

Mercedes Gil-Campos 1 collaboration

Elisenda Cortès-Saladelafont 1 collaboration

Lucia Abela 1 collaboration

Pichet Termsarasab 1 collaboration

Kshitij Mankad 1 collaboration

Sniya Sudhakar 1 collaboration

Kathleen M Gorman 1 collaboration

Simon J R Heales 1 collaboration

Simon Pope 1 collaboration

Lorenzo Biassoni 1 collaboration

Barbara Csányi 1 collaboration

John Cain 1 collaboration

Karl Rakshi 1 collaboration

Helen Coutts 1 collaboration

Sandeep Jayawant 1 collaboration

Rosalind Jefferson 1 collaboration

Deborah Hughes 1 collaboration

Àngels García-Cazorla 1 collaboration

Detelina Grozeva 1 collaboration

F Lucy Raymond 1 collaboration

Christian De Goede 1 collaboration

Toni S Pearson 1 collaboration

Katia Llano 1 collaboration

María Eugenia Yoldi-Petri 1 collaboration

Luba Blumkin 1 collaboration

Pablo Rodríguez de la Fuente 1 collaboration

Fernando Gil-Ortiz 1 collaboration

Leonor Fernández-Murga 1 collaboration

Angel Sanchez-Montanez 1 collaboration

Elena García-Arumí 1 collaboration

Gillian I Rice 1 collaboration

Sehoon Park 1 collaboration

Francesco Gavazzi 1 collaboration

Laura A Adang 1 collaboration

Loveline A Ayuk 1 collaboration

Lien Van Eyck 1 collaboration

Luis Seabra 1 collaboration

Christophe Barrea 1 collaboration

Roberta Battini 1 collaboration

Alexandre Belot 1 collaboration

Stefan Berg 1 collaboration

Thierry Billette de Villemeur 1 collaboration

Annette E Bley 1 collaboration

Lubov Blumkin 1 collaboration

Odile Boespflug-Tanguy 1 collaboration

Tracy A Briggs 1 collaboration

Elise Brimble 1 collaboration

Niklas Darin 1 collaboration

François-Guillaume Debray 1 collaboration

Valentina De Giorgis 1 collaboration

Jonas Denecke 1 collaboration

Diane Doummar 1 collaboration

Gunilla Drake Af Hagelsrum 1 collaboration

Despina Eleftheriou 1 collaboration

Margherita Estienne 1 collaboration

Elisa Fazzi 1 collaboration

François Feillet 1 collaboration

Jessica Galli 1 collaboration

Nicholas Hartog 1 collaboration

Julie Harvengt 1 collaboration

Bénédicte Heron 1 collaboration

Delphine Heron 1 collaboration

Diedre A Kelly 1 collaboration

Dorit Lev 1 collaboration

Virginie Levrat 1 collaboration

John H Livingston 1 collaboration

Itxaso Marti 1 collaboration

Cyril Mignot 1 collaboration

Fanny Mochel 1 collaboration

Marie-Christine Nougues 1 collaboration

Ilena Oppermann 1 collaboration

Bernt Popp 1 collaboration

Mathieu P Rodero 1 collaboration

Diana Rodriguez 1 collaboration

Veronica Saletti 1 collaboration

Cia Sharpe 1 collaboration

Davide Tonduti 1 collaboration

Gayatri Vadlamani 1 collaboration

Keith Van Haren 1 collaboration

Miguel Tomas Vila 1 collaboration

Julie Vogt 1 collaboration

Evangeline Wassmer 1 collaboration

Arnaud Wiedemann 1 collaboration

Callum J Wilson 1 collaboration

Ayelet Zerem 1 collaboration

Christiane Zweier 1 collaboration

Sameer M Zuberi 1 collaboration

Simona Orcesi 1 collaboration

Adeline L Vanderver 1 collaboration

Sun Hur 1 collaboration

Yanick J Crow 1 collaboration

Paula Gaudó 1 collaboration

Sonia Emperador 1 collaboration

Angel Sánchez-Montanez 1 collaboration

Olga Alonso-Luengo 1 collaboration

Marta Correa 1 collaboration

Anna Marcè Grau 1 collaboration

Juan Darío Ortigoza-Escobar 1 collaboration

Elida Vázquez 1 collaboration

Nuria Garrido-Pérez 1 collaboration

Eduardo Ruiz-Pesini 1 collaboration

Julio Montoya 1 collaboration

María Pilar Bayona-Bafaluy 1 collaboration

Noelia Baz-Redón 1 collaboration

Sandra Rovira-Amigo 1 collaboration

Mónica Fernández-Cancio 1 collaboration

Silvia Castillo-Corullón 1 collaboration

Maria Cols 1 collaboration

M Araceli Caballero-Rabasco 1 collaboration

Óscar Asensio 1 collaboration

Carlos Martín de Vicente 1 collaboration

Maria Del Mar Martínez-Colls 1 collaboration

Alba Torrent-Vernetta 1 collaboration

Inés de Mir-Messa 1 collaboration

Silvia Gartner 1 collaboration

Ignacio Iglesias-Serrano 1 collaboration

Ana Díez-Izquierdo 1 collaboration

Eva Polverino 1 collaboration

Esther Amengual-Pieras 1 collaboration

Rosanel Amaro-Rodríguez 1 collaboration

Montserrat Vendrell 1 collaboration

Marta Mumany 1 collaboration

María Teresa Pascual-Sánchez 1 collaboration

Ana Reula 1 collaboration

Amparo Escribano 1 collaboration

Francisco Dasí 1 collaboration

Miguel Armengot-Carceller 1 collaboration

Marta Garrido-Pontnou 1 collaboration

Núria Camats-Tarruella 1 collaboration

Maria I Vanegas 1 collaboration

Sara Mellid 1 collaboration

Anna Cazurro 1 collaboration

Carla Rodríguez 1 collaboration

Laura Toledo 1 collaboration

Joaquín Alejandro Fernández-Ramos 1 collaboration

Maria José Martí 1 collaboration

Jesús Eiris 1 collaboration

Gema Iglesias 1 collaboration

Oriol De Fabregues 1 collaboration

Elena Maqueda 1 collaboration

Maite Garriz-Luis 1 collaboration

José Carlos Cabrera 1 collaboration

Marta Molero-Luis 1 collaboration

Didac Casas-Alba 1 collaboration

Gabriela Orellana 1 collaboration

Aida Ormazabal 1 collaboration

Cristina Sierra 1 collaboration

Clara Oliva 1 collaboration

Anna Valls 1 collaboration

Jesus Velasco 1 collaboration

Cristian Launes 1 collaboration

Iolanda Jordan 1 collaboration

Francisco J Cambra 1 collaboration

Carmen Muñoz-Almagro 1 collaboration

Angels Garcia-Cazorla 1 collaboration

Thais Armangué 1 collaboration

Martje G Pauly 1 collaboration

G Christoph Korenke 1 collaboration

Sokhna Haissatou Diaw 1 collaboration

Anne Grözinger 1 collaboration

Victoria González 1 collaboration

Ana Teresa Serrano Antón 1 collaboration

Borut Peterlin 1 collaboration

Ivana Babić Božović 1 collaboration

Aleš Maver 1 collaboration

Alexander Münchau 1 collaboration

Katja Lohmann 1 collaboration

Laura Marti-Sanchez 1 collaboration

Anastasia Skouma 1 collaboration

Maria Sigatullina 1 collaboration

Cristiano Rizzo 1 collaboration

Michela Semeraro 1 collaboration

Diego Martinelli 1 collaboration

Rosalba Carrozzo 1 collaboration

Carlo Dionisi-Vici 1 collaboration

Luis González-Gutiérrez-Solana 1 collaboration

Ángel Sánchez-Montañez 1 collaboration

Élida Vazquez 1 collaboration

María Eugenia Yoldi 1 collaboration

Antonia Ribes 1 collaboration

Frederic Tort 1 collaboration

Luca Pollini 1 collaboration

Serena Galosi 1 collaboration

Manuela Tolve 1 collaboration

Laura Pérez-Gay 1 collaboration

Luis Aldamiz-Echevarría 1 collaboration

Antonio Arranz 1 collaboration

Filip Roelens 1 collaboration

Roser Urreizti 1 collaboration

Candela Machuca 1 collaboration

Deyanira García-Navas 1 collaboration

Irene Villalón-García 1 collaboration

José Antonio Sánchez-Alcázar 1 collaboration

Slaven Erceg 1 collaboration

Ángela Rodríguez-Prieto 1 collaboration

Carmen Navarro-González 1 collaboration

Javier Miquel-Leal 1 collaboration

Mario Soriano-Navarro 1 collaboration

Alberto Hernández 1 collaboration

Pietro Fazzari 1 collaboration

Antonio Martinez-Monseny 1 collaboration

Mercè Bolasell 1 collaboration

César Arjona 1 collaboration

Mar Borregan 1 collaboration

Adi Algrabli 1 collaboration

Raquel Montero 1 collaboration

Ramón Velázquez-Fragua 1 collaboration

Celia Pérez-Cerdá 1 collaboration

Cristina Aisha Tello 1 collaboration

Miguel Tomás 1 collaboration

Rafael Camino-León 1 collaboration

Joaquín Fernández-Ramos 1 collaboration

Adriano Jiménez-Escrig 1 collaboration

Pilar Poó 1 collaboration

Mar O'Callaghan 1 collaboration

Carlos Ortez 1 collaboration

Andrés Nascimento 1 collaboration

Ramón Candau Fernández Mesaque 1 collaboration

Luisa Arrabal 1 collaboration

Susana Roldan 1 collaboration

Hilario Gómez-Martín 1 collaboration

Cristina Garrido 1 collaboration

Teresa Temudo 1 collaboration

Cristina Jou-Muñoz 1 collaboration

Thierry A G M Huisman 1 collaboration

Andrea Poretti 1 collaboration

André B P van Kuilenburg 1 collaboration

Judith Meijer 1 collaboration

Rutger Meinsma 1 collaboration

Marielle Alders 1 collaboration

Zahurul A Bhuiyan 1 collaboration

Raoul C M Hennekam 1 collaboration

Ainara Salazar 1 collaboration

María I Vanegas 1 collaboration

Àlex Bayés 1 collaboration

Joao Carvalho 1 collaboration

Julia Ferrero-Turrion 1 collaboration

Maria Vanegas 1 collaboration

Victoria Gonzalez 1 collaboration

Ramiro Alvárez 1 collaboration

Antonio Moreno 1 collaboration

Kathleen Gorman 1 collaboration

Federica R Danti 1 collaboration

Katy Barwick 1 collaboration

Apostolos Papandreou 1 collaboration

Shekeeb S Mohammad 1 collaboration

Martin Smith 1 collaboration

Francesco Muntoni 1 collaboration

Pinki Munot 1 collaboration

Johanna Uusimaa 1 collaboration

Päivi Vieira 1 collaboration

Eammon Sheridan 1 collaboration

Renzo Guerrini 1 collaboration

Jan Cobben 1 collaboration

Sanem Yilmaz 1 collaboration

Elisa De Grandis 1 collaboration

Kathryn J Peall 1 collaboration

Isabel Hinarejos 1 collaboration

Raquel Bernadó-Fonz 1 collaboration

Itxaso Martí-Carrera 1 collaboration

María Jesús Martínez-González 1 collaboration

Ainhoa García-Ribes 1 collaboration

Raquel Baviera-Muñoz 1 collaboration

Isabel Sastre-Bataller 1 collaboration

Irene Martínez-Torres 1 collaboration

Anna Duat-Rodríguez 1 collaboration

Patrícia Janeiro 1 collaboration

Esther Moreno 1 collaboration

Leticia Pías-Peleteiro 1 collaboration

Mar O'Callaghan Gordo 1 collaboration

Ángeles Ruiz-Gómez 1 collaboration

Esteban Muñoz 1 collaboration

Maria Josep Martí 1 collaboration

Candela Fuster 1 collaboration

Roser Maria Pons 1 collaboration

Silvia Jesús-Maestre 1 collaboration

Pablo Mir 1 collaboration

Amaia Lasa-Aranzasti 1 collaboration

Yonika A Larasati 1 collaboration

Juliana da Silva Cardoso 1 collaboration

Gonzalo P Solis 1 collaboration

Alexey Koval 1 collaboration

Maria Concepción Miranda 1 collaboration

Beatriz De la Casa-Fages 1 collaboration

Eduardo F Tizzano 1 collaboration

David Gómez-Andrés 1 collaboration

Edgard Verdura 1 collaboration

Vladimir L Katanaev 1 collaboration

Affiliations

Publications (23)

Impaired proteasome activity and neurodegeneration with brain iron accumulation in FBXO7 defect.

Clinical improvements after treatment with a low-valine and low-fat diet in a pediatric patient with enoyl-CoA hydratase, short chain 1 (ECHS1) deficiency.

DNAJC6 Mutations Disrupt Dopamine Homeostasis in Juvenile Parkinsonism-Dystonia.

Expanding the β-III Spectrin-Associated Phenotypes toward Non-Progressive Congenital Ataxias with Neurodegeneration.

Genetic diagnosis of basal ganglia disease in childhood.

Genetic and phenotypic spectrum associated with IFIH1 gain-of-function.

Mutations in the mitochondrial complex I assembly factor NDUFAF6 cause isolated bilateral striatal necrosis and progressive dystonia in childhood.

Immunofluorescence Analysis as a Diagnostic Tool in a Spanish Cohort of Patients with Suspected Primary Ciliary Dyskinesia.

Delineating the motor phenotype of SGCE-myoclonus dystonia syndrome.

Cerebrospinal fluid neopterin as a biomarker of neuroinflammatory diseases.

The Expanding Phenotypical Spectrum of

Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene.

Genetic defects of thiamine transport and metabolism: A review of clinical phenotypes, genetics, and functional studies.

Generation of three human iPSC lines from PLAN (PLA2G6-associated neurodegeneration) patients.

Protein misfolding and clearance in the pathogenesis of a new infantile onset ataxia caused by mutations in PRDX3.

From gestalt to gene: early predictive dysmorphic features of PMM2-CDG.

PLA2G6-associated neurodegeneration: New insights into brain abnormalities and disease progression.

Dihydropyrimidine Dehydrogenase Deficiency: Homozygosity for an Extremely Rare Variant in DPYD due to Uniparental Isodisomy of Chromosome 1.

ε-Sarcoglycan: Unraveling the Myoclonus-Dystonia Gene.

Early recognition of SGCE-myoclonus-dystonia in children.

The Genetic Landscape of Complex Childhood-Onset Hyperkinetic Movement Disorders.

Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias.

Clinical and Molecular Profiling in GNAO1 Permits Phenotype-Genotype Correlation.

Réseau de co-auteurs