Browsing by Author López de Munain, Adolfo
Showing results 1 to 14 of 14
| Issue Date | Title | Author(s) |
|---|---|---|
| 1-Jan-2020 | A deep intronic splice variant advises reexamination of presumably dominant SPG7 Cases | Verdura, Edgard; Schlüter, Agatha; Fernández Eulate, Gorka; Ramos-Martín, Raquel; Zulaica, Miren; Planas Serra, Laura; Ruiz, Montserrat; Fourcade, Stéphane; Casasnovas Pons, Carlos; López de Munain, Adolfo; Pujol Onofre, Aurora |
| 1-Jan-2015 | Clinical correlations with Lewy body pathology in LRRK2-related Parkinson disease | Kalia, Lorraine V.; Lang, Anthony E.; Hazrati, Lili-Naz; Fujioka, Shinsuke; Wszolek, Zbigniew K.; Dickson, Dennis W.; Ross, Owen A.; Van Deerlin, Vivianna M.; Trojanowski, John Q.; Hurtig, Howard I.; Alcalay, Roy N.; Marder, Karen S.; Clark, Lorraine N.; Gaig Ventura, Carles; Tolosa, Eduardo; Ruiz-Martínez, Javier; Marti-Masso, Jose F.; Ferrer, Isidro (Ferrer Abizanda); López de Munain, Adolfo; Goldman, Samuel M.; Schüle, Birgitt; Langston, J. William; Aasly, Jan O.; Giordana, Maria T.; Bonifati, Vincenzo; Puschmann, Andreas; Canesi, Margherita; Pezzoli, Gianni; Maues De Paula, Andre; Hasegawa, Kazuko; Duyckaerts, Charles; Brice, Alexis; Stoessl, A. Jon; Marras, Connie |
| 7-Sep-2023 | ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization | Schlüter, Agatha; Vélez Santamaría, Valentina; Verdura, Edgard; Rodríguez Palmero, Agustí; Ruiz, Montserrat; Fourcade, Stéphane; Planas Serra, Laura; Launay, Nathalie; Guilera, Cristina; Martínez, Juan José; Homedes Pedret, Christian; Albertí Aguiló, M. Antonia; Zulaika, Miren; Martí, Itxaso; Troncoso, Mónica; Tomás Vila, Miguel; Bullich, Gemma; García Pérez, M. Asunción; Sobrido Gómez, María Jesús; López Laso, Eduardo; Fons, Carme; Toro, Mireia del; Macaya, Alfons; García Cazorla, Àngels; Ortiz Martínez, Antonio José; Ortez, Carlos Ignacio; Cáceres Marzal, Cristina; Martínez Salcedo, Eduardo; Mondragón, Elisabet; Barredo, Estíbaliz; Antón Airaldi, Ileana; Ruíz Martínez, Javier; Fernández Ramos, Joaquin A.; Vázquez, Juan Francisco; Díez Porras, Laura; Vázquez Cancela, María; O’Callaghan, Mar; Pablo Sánchez, Tamara; Nedkova, Velina; Maraña Pérez, Ana Isabel; Beltran, Sergi; Gutiérrez Solana, Luis G.; Pérez Jurado, Luis A.; Aguilera Albesa, Sergio; López de Munain, Adolfo; Casasnovas, Carlos; Pujol, Aurora; HSP/ATAXIA Workgroup |
| 11-Oct-2012 | Coexistence of protease sensitive and resistant prion protein in 129VV homozygous sporadic Creutzfeldt-Jakob disease: a case report | Rodríguez Martínez, Ana B.; López de Munain, Adolfo; Ferrer, Isidro (Ferrer Abizanda); Zarranz, Juan J.; Atarés, Begoña; Villagra, Nuria T.; Arteagoitia, José María; Garrido, Joseba M.; Juste, Ramón A. |
| 10-Jan-2022 | Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization | Schlüter, Agatha; Rodríguez Palmero, Agustí; Verdura, Edgard; Vélez Santamaría, Valentina; Ruiz, Montserrat; Fourcade, Stephane; Planas Serra, Laura; Martínez, Juan José; Guilera, Cristina; Girós, Marisa; Artuch Iriberri, Rafael; Yoldi, María Eugenia; O'Callaghan, Mar; García Cazorla, Àngels; Armstrong, Judith; Marti, Itxaso; Mondragón Rezola, Elisabet; Redin, Claire; Mandel, Jean Louis; Conejo, David; Sierra Córcoles, Concepción; Beltran, Sergi; Gut, Marta; Vázquez, Elida; Toro, Mireia del; Troncoso, Mónica; Pérez Jurado, Luis; Gutiérrez Solana, Luis G.; López de Munain, Adolfo; Casasnovas Pons, Carlos; Aguilera Albesa, Sergio; Macaya, Alfons; Pujol, Aurora; GWMD working group |
| 27-Jul-2017 | Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain | Sivera, Rafael; Frasquet, Marina; Lupo, Vincenzo; García-Sobrino, Tania; Blanco-Arias, Patricia; Pardo, Julio; Fernández-Torrón, Roberto; López de Munain, Adolfo; Márquez Infante, Celedonio; Villarreal, Liliana; Carbonell, Pilar; Rojas-Garcia, Ricard; Segovia, Sonia; Illa Sendra, Isabel; Frongia, Anna Lia; Nascimento, Andrés; Ortez, Carlos Ignacio; García-Romero, Mar; Pascual-Pascua, Samuel Ignacio; Pelayo-Negro, Ana Lara; Berciano, José; Guerrero Sola, Antonio; Casasnovas Pons, Carlos; Camacho, Ana; Esteban, Jesús; Chumillas, María José; Barreiro, Marisa; Díaz, Carmen; Palau Martínez, Francesc; Vílchez, Juan Jesús; Espinós, Carmen; Sevilla, Teresa |
| Jan-2022 | Drug-refractory myasthenia gravis: Clinical characteristics, treatments, and outcome | Cortés Vicente, Elena; Álvarez-Velasco, Rodrigo; Pla-Junca, Francesc; Rojas-Garcia, Ricard; Paradas, Carmen; Sevilla, Teresa; Casasnovas, Carlos; Gómez-Caravaca, María Teresa; Pardo, Julio; Ramos-Fransi, Alba; Pelayo-Negro, Ana Lara; Gutiérrez-Gutiérrez, Gerardo; Turon Sans, Janina; López de Munain, Adolfo; Guerrero Sola, Antonio; Jericó, Ivonne; Martín, María Asunción; Mendoza, María Dolores; Morís, Germán; Vélez-Gómez, Beatriz; García-Sobrino, Tania; Pascual-Goñi, Elba; Reyes-Leiva, David; Illa Sendra, Isabel; Gallardo, Eduard |
| 2-Dec-2022 | Efficacy and safety clinical trial with efavirenz in patients diagnosed with adult Niemann-pick type C with cognitive impairment | Gascón Bayarri, Jordi; Simon, Petru Cristian; Llop, Roser; Carnaval, Thiago; Ledesma, María Dolores; Rico, Imma; Sánchez Castañeda, Cristina; Campdelacreu Fumadó, Jaume; Calvo Malvar, Nahum; Cos, Mònica; Lama, Eugenia de; Cortés Romera, Montserrat; Rodríguez Bel, Laura; Pérez Sousa, Celia; Cerdán Sánchez, María; Muelas, Nuria; Sevillano, María Dolores; Mir, Pablo; López de Munain, Adolfo; Ferrer, Anna; Videla, Sebastián |
| 1-Apr-2018 | iPS cell cultures from a Gerstmann-Straussler-Scheinker patient with the Y218N PRNP mutation recapitulate tau pathology | Matamoros i Anglès, Andreu; Mayela Gayosso, Lucia; Richaud-Patin, Yvonne; Domenico, Angelique Di; Vergara Paños, Cristina; Hervera Abad, Arnau; Sousa, Amaia; Fernández Borges, Natalia; Consiglio, Antonella; Gavín Marín, Rosalina; López de Maturana, Rakel; Ferrer, Isidro (Ferrer Abizanda); López de Munain, Adolfo; Raya Chamorro, Ángel; Castilla, Joaquín; Sanchez-Pernaute, Rosario; Río Fernández, José Antonio del |
| 1-Dec-2018 | Muscle imaging in laminopathies: Synthesis study identifies meaningful muscles for follow-up | Gómez Andrés, David; Díaz Manera, Jordi; Alejaldre, Aida; Pulido Valdeolivas, Irene; González Mera, Laura; Olivé i Plana, Montserrat; Vilchez, Juan José; López de Munain, Adolfo; Paradas, Carmen; Muelas, Nuria; Sánchez Montáñez, Ángel; Alonso Jimenez, Alicia; Gómez de la Banda, Marta; Dabaj, Ivana; Bonne, Gisèle; Munell Casadesús, Francina; Carlier, Robert Y.; Quijano Roy, Susana |
| 1-May-2021 | Patient-specific iPSC-derived cellular models of LGMDR1 | Mateos Aierdi, A.J.; Dehesa Etxebeste, M.; Goicoechea, M.; Aiastui, A.; Richaud-Patin, Yvonne; Jiménez-Delgado, Senda; Raya Chamorro, Ángel; Naldaiz Gastesi, N.; López de Munain, Adolfo |
| 22-Apr-2020 | Phenotypic correlations in a large single center cohort of patients with BSCL2 nerve disorders: a clinical, neurophysiological and muscle MRI study | Fernández Eulate, Gorka; Fernández Torrón, Roberto; Guisasola, Amaia; Iglesias Gaspar, Maria Teresa; Diaz Manera, Jordi; Maneiro, Miren; Zulaica, Miren; Olasagasti, Vicente; Formica, Alejandro Francisco; Espinal, Juan Bautista; Ruiz, Montserrat; Schlüter, Agatha; Pujol Onofre, Aurora; Poza, Juan José; López de Munain, Adolfo |
| 1-May-2020 | Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain | González Quereda, Lidia; Rodríguez, Maria Jose; Diaz Manera, Jordi; Alonso Pérez, Jorge; Gallardo, Eduard; Nascimento, Andrés; Ortez, Carlos Ignacio; Natera de Benito, Daniel; Olivé i Plana, Montserrat; González Mera, Laura; López de Munain, Adolfo; Zulaica, Miren; Poza, Juan Jose; Jerico, Ivonne; Tome, Laura; Riera, Pau; Milisenda, José; Sánchez, Aurora; Garrabou Tornos, Glòria; Llano, Isabel; Madruga Garrido, Marcos; Gallano, Pia |
| 17-May-2021 | Transcriptional signatures of synaptic vesicle genes define myotonic dystrophy type I neurodegeneration | Jiménez Marín, Antonio; Diez, Ibai; Labayru, Garazi; Sistiaga, Andone; Caballero, Maria C.; Andrés Benito, Pol; Sepulcre, Jorge; Ferrer, Isidro (Ferrer Abizanda); López de Munain, Adolfo; Cortés, Jesús M. |