Natural Killer Cell Receptors and Cytotoxic Activity in Phosphomannomutase 2 Deficiency (PMM2-CDG).

by Roberto García-López, María Eugenia de la Morena-Barrio, Laia Alsina, Belén Pérez-Dueñas, Jaak Jaeken, Mercedes Serrano, Mercedes Casado, Trinidad Hernández-Caselles
Published 2016-01-01

Correction: Natural Killer Cell Receptors and Cytotoxic Activity in Phosphomannomutase 2 Deficiency (PMM2-CDG).

by Roberto García-López, María Eugenia de la Morena-Barrio, Laia Alsina, Belén Pérez-Dueñas, Jaak Jaeken, Mercedes Serrano, Mercedes Casado, Trinidad Hernández-Caselles
Published 2016-01-01

Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism.

by Dèlia Yubero, Núria Brandi, Aida Ormazabal, Àngels Garcia-Cazorla, Belén Pérez-Dueñas, Jaime Campistol, Antonia Ribes, Francesc Palau, Rafael Artuch, Judith Armstrong, Working Group
Published 2016-01-01

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

by Candela Machuca, Marta Correa-Vela, Deyanira García-Navas, Alejandra Darling, Irene Villalón-García, José Antonio Sánchez-Alcázar, Belén Pérez-Dueñas, Slaven Erceg, Carmen Espinós
Published 2021-05-01

A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG)

by Natalia Lourdes Serrano, Victor De Diego, Daniel Cuadras, Antonio F. Martinez Monseny, Ramón Velázquez-Fragua, Laura López, Ana Felipe, Luis G. Gutiérrez-Solana, Alfons Macaya, Belén Pérez-Dueñas, Mercedes Serrano, CDG Spanish-Consortium
Published 2017-09-01

Encephalopathies with intracranial calcification in children: clinical and genetic characterization

by Davide Tonduti, Celeste Panteghini, Anna Pichiecchio, Alice Decio, Miryam Carecchio, Chiara Reale, Isabella Moroni, Nardo Nardocci, Jaume Campistol, Angela Garcia-Cazorla, Belen Perez Duenas, Cerebral Calcification International Study Group, Luisa Chiapparini, Barbara Garavaglia, Simona Orcesi
Published 2018-08-01

Dystonia Management: What to Expect From the Future? The Perspectives of Patients and Clinicians Within DystoniaNet Europe

by Marenka Smit, Alberto Albanese, Monika Benson, Mark J. Edwards, Holm Graessner, Michael Hutchinson, Robert Jech, Joachim K. Krauss, Francesca Morgante, Francesca Morgante, Belen Pérez Dueñas, Richard B. Reilly, Michele Tinazzi, Maria Fiorella Contarino, Maria Fiorella Contarino, Marina A. J. Tijssen, The Collaborative Working Group
Published 2021-06-01

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

by Marta Correa‐Vela, Vincenzo Lupo, Marta Montpeyó, Paula Sancho, Anna Marcé‐Grau, Jorge Hernández‐Vara, Alejandra Darling, Alison Jenkins, Sandra Fernández‐Rodríguez, Cristina Tello, Laura Ramírez‐Jiménez, Belén Pérez, Ángel Sánchez‐Montáñez, Alfons Macaya, María J. Sobrido, Marta Martinez‐Vicente, Belén Pérez‐Dueñas, Carmen Espinós
Published 2020-08-01

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

by Paula Sancho, Amparo Andrés-Bordería, Nerea Gorría-Redondo, Katia Llano, Dolores Martínez-Rubio, María Eugenia Yoldi-Petri, Luba Blumkin, Pablo Rodríguez de la Rodríguez de la Fuente, Fernando Gil-Ortiz, Leonor Fernández-Murga, Ana Sánchez-Monteagudo, Vincenzo Lupo, Belén Pérez-Dueñas, Carmen Espinós, Sergio Aguilera-Albesa
Published 2021-03-01

Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy

by Mercè Izquierdo-Serra, Antonio F. Martínez-Monseny, Laura López, Julia Carrillo-García, Albert Edo, Juan Darío Ortigoza-Escobar, Óscar García, Ramón Cancho-Candela, M Llanos Carrasco-Marina, Luis G. Gutiérrez-Solana, Daniel Cuadras, Jordi Muchart, Raquel Montero, Rafael Artuch, Celia Pérez-Cerdá, Belén Pérez, Belén Pérez-Dueñas, Alfons Macaya, José M. Fernández-Fernández, Mercedes Serrano
Published 2018-02-01

GDF-15 Is Elevated in Children with Mitochondrial Diseases and Is Induced by Mitochondrial Dysfunction.

by Raquel Montero, Delia Yubero, Joan Villarroya, Desiree Henares, Cristina Jou, Maria Angeles Rodríguez, Federico Ramos, Andrés Nascimento, Carlos Ignacio Ortez, Jaume Campistol, Belen Perez-Dueñas, Mar O'Callaghan, Mercedes Pineda, Angeles Garcia-Cazorla, Jaume Colomer Oferil, Julio Montoya, Eduardo Ruiz-Pesini, Sonia Emperador, Marija Meznaric, Laura Campderros, Susana G Kalko, Francesc Villarroya, Rafael Artuch, Cecilia Jimenez-Mallebrera
Published 2016-01-01

Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease

by Cristina Jou, Juan D. Ortigoza-Escobar, Maria M. O’Callaghan, Andres Nascimento, Alejandra Darling, Leticia Pias-Peleteiro, Belén Perez-Dueñas, Mercedes Pineda, Anna Codina, César Arjona, Judith Armstrong, Francesc Palau, Antonia Ribes, Laura Gort, Frederic Tort, Placido Navas, Eduardo Ruiz-Pesini, Sonia Emperador, Ester Lopez-Gallardo, Pilar Bayona-Bafaluy, Raquel Montero, Cecilia Jimenez-Mallebrera, Angels Garcia-Cazorla, Julio Montoya, Delia Yubero, Rafael Artuch
Published 2019-01-01

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

by Noelia Baz-Redón, Sandra Rovira-Amigo, Mónica Fernández-Cancio, Silvia Castillo-Corullón, Maria Cols, M. Araceli Caballero-Rabasco, Óscar Asensio, Carlos Martín de Vicente, Maria del Mar Martínez-Colls, Alba Torrent-Vernetta, Inés de Mir-Messa, Silvia Gartner, Ignacio Iglesias-Serrano, Ana Díez-Izquierdo, Eva Polverino, Esther Amengual-Pieras, Rosanel Amaro-Rodríguez, Montserrat Vendrell, Marta Mumany, María Teresa Pascual-Sánchez, Belén Pérez-Dueñas, Ana Reula, Amparo Escribano, Francisco Dasí, Miguel Armengot-Carceller, Marta Garrido-Pontnou, Núria Camats-Tarruella, Antonio Moreno-Galdó
Published 2020-11-01

The European Reference Network for Rare Neurological Diseases

by Carola Reinhard, Carola Reinhard, Anne-Catherine Bachoud-Lévi, Anne-Catherine Bachoud-Lévi, Anne-Catherine Bachoud-Lévi, Tobias Bäumer, Tobias Bäumer, Enrico Bertini, Alicia Brunelle, Alicia Brunelle, Annemieke I. Buizer, Antonio Federico, Thomas Gasser, Thomas Gasser, Samuel Groeschel, Sanja Hermanns, Sanja Hermanns, Thomas Klockgether, Ingeborg Krägeloh-Mann, G. Bernhard Landwehrmeyer, Isabelle Leber, Isabelle Leber, Alfons Macaya, Caterina Mariotti, Wassilios G. Meissner, Wassilios G. Meissner, Maria Judit Molnar, Jorik Nonnekes, Juan Dario Ortigoza Escobar, Belen Pérez Dueñas, Lori Renna Linton, Ludger Schöls, Rebecca Schuele, Rebecca Schuele, Marina A. J. Tijssen, Rik Vandenberghe, Rik Vandenberghe, Anna Volkmer, Anna Volkmer, Nicole I. Wolf, Holm Graessner, Holm Graessner
Published 2021-01-01