| Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
| openAccess |  | 6-jul-2012 | 5-Oxoprolinuria in Heterozygous Patients for 5-Oxoprolinase (OPLAH) Missense Changes | Calpena, Eduardo CSIC ORCID; Casado, Mercedes; Martínez-Rubio, Dolores CSIC ORCID; Nascimento, Andrés; Colomer, Jaume; Gargallo, Eva; García-Cazorla, Angels; Palau Martínez, Francesc CSIC ORCID; Artuch, Rafael; Espinós, Carmen CSIC ORCID | artículo |
| openAccess |  | dic-2017 | A newly distal hereditary motor neuropathy caused by a rare AIFM1 mutation | Sancho, Paula; Sánchez-Monteagudo, Ana; Collado, Antonio; Marco-Marín, Clara CSIC ORCID; Domínguez-Gonzalez, Cristina; Camacho, Ana CSIC; Knecht, Erwin; Espinós, Carmen CSIC ORCID; Lupo, Vincenzo CSIC ORCID | artículo |
| openAccess |  | sep-2008 | A novel delins mutation in the alpha-TTP gene in a family segregating ataxia with isolated vitamin E deficiency | Fernández-Burriel, Miguel; Martínez-Rubio, Dolores CSIC ORCID; Lupo, Vincenzo CSIC ORCID; Pérez-Colosía, Víctor; Piñán-López, Esther; Palau Martínez, Francesc CSIC ORCID; Espinós, Carmen CSIC ORCID | artículo |
| openAccess |  | ago-2022 | A novel TRMT5 mutation causes a complex inherited neuropathy syndrome: The role of nerve pathology in defining a demyelinating neuropathy | Argente-Escrig, Herminia; Vílchez, Juan Jesús; Frasquet, Marina; Muelas, Nuria; Azorín, Inmaculada; Vílchez, Roger; Millet-Sancho, Elvira; Pitarch, Inmaculada; Tomás-Vila, Miguel; Vazquez-Costa, Juan F.; Mas-Estellés, Fernando; Marco-Marín, Clara CSIC ORCID; Espinós, Carmen CSIC ORCID; Serrano-Lorenzo, Pablo; Martín, Miguel A.; Lupo, Vincenzo CSIC ORCID; Sevilla, Teresa | artículo |
| openAccess |  | 2005 | Ancient origin of the CAG expansion causing Huntington disease in a Spanish population | García-Planells, Javier; Burguera, Juan A.; Solís, Pilar; Millán, José M.; Ginestar, Millán; Palau Martínez, Francesc CSIC ORCID; Espinós, Carmen CSIC ORCID | artículo |
| openAccess |  | 17-nov-2006 | Autosomal recessive cerebellar ataxias | Palau Martínez, Francesc CSIC ORCID; Espinós, Carmen CSIC ORCID | artículo |
| closedAccess |  | 2006 | Cerebellar ataxia with coenzyme Q10 deficiency: Diagnosis and follow-up after coenzyme Q10 supplementation | Artuch, Rafael; Brea-Calvo, Gloria CSIC ORCID; Briones, Paz CSIC; Aracil, Asunción; Galván, Marta; Espinós, Carmen CSIC ORCID; Corral, Jordi; Volpini, Víctor; Ribes, Antonia; Andreu, Antoni L.; Palau Martínez, Francesc CSIC ORCID; Sánchez-Alcázar, José Antonio CSIC ORCID ; Navas, Plácido CSIC ORCID; Pineda, Mercé | artículo |
| closedAccess |  | 2013 | Clinical, biochemical, molecular and therapeutic aspects of 2 new cases of 2-aminoadipic semialdehyde synthase deficiency | Tondo, Mireia; Calpena, Eduardo CSIC ORCID; Arriola, Gema; Sanz, Paloma CSIC; Martorell, Loreto; Ormazabal, Aida; Castejón, Esperanza; Ugarte, Magdalena CSIC ; Espinós, Carmen CSIC ORCID; Pérez, Belén CSIC ORCID; Pérez-Dueñas, Belén; Artuch, Rafael | artículo |
| openAccess |  | dic-2011 | Congenital hypomyelinating neuropathy due to a novel MPZ mutation | Sevilla, Teresa; Lupo, Vincenzo CSIC ORCID; Sivera, Rafael; Marco-Marín, Clara CSIC ORCID; Martínez-Rubio, Dolores CSIC ORCID; Rivas, Eloy; Hernández, Arturo; Palau Martínez, Francesc CSIC ORCID; Espinós, Carmen CSIC ORCID | artículo |
| closedAccess |  | 1-nov-2020 | Delineating the motor phenotype of SGCE-myoclonus dystonia syndrome | Vanegas, María I.; Marcé-Grau, Anna; Martí-Sánchez, Laura; Mellid, Sara; Baide-Mairen, Heidy; Correa-Vela, Marta; Cazurro, Anna; Rodríguez, Carla; Toledo, Laura; Fernández-Ramos, Joaquín Alejandro; Pons, Roser; Aguilera-Albesa, Sergio; Martí, María-José; Eiris, Jesús; Iglesias Escalera, G.; Fábregues-Boixar, Oriol de; Maqueda, Elena; Garriz-Luis, Maite; Garriz-Luis, Maite; Madruga, Marcos CSIC; Espinós, Carmen CSIC ORCID; Macaya, Alfons; Cabrera, José Carlos; Pérez-Dueñas, Belén | artículo |
| openAccess |  | may-2021 | Generation of three human iPSC lines from PLAN (PLA2G6-associated neurodegeneration) patients | Machuca, Candela; Correa-Vela, Marta; García-Navas, Deyanira; Darling, Alejandra; Villalón-García, Irene; Sánchez-Alcázar, José Antonio CSIC ORCID ; Pérez-Dueñas, Belén; Erceg, Slaven; Espinós, Carmen CSIC ORCID | artículo |
| openAccess |  | 16-nov-2023 | Genetic Heterogeneity Underlying Phenotypes with Early-Onset Cerebellar Atrophy | Martínez-Rubio, Dolores CSIC ORCID; Hinarejos, Isabel; Argente-Escrig, Herminia; Marco-Marín, Clara CSIC ORCID; Lozano, María Ana; Gorría-Redondo, Nerea; Lupo, Vincenzo CSIC ORCID; Martí-Carrera, Itxaso; Miranda, Concepción; Vázquez-López, María; García-Pérez, Asunción; Marco-Hernández, Ana Victoria; Tomás-Vila, Miguel; Aguilera-Albesa, Sergio; Espinós, Carmen CSIC ORCID | artículo |
| openAccess |  | 21-ago-2020 | Impaired proteasome activity and neurodegeneration with brain iron accumulation in FBXO7 defect | Correa-Vela, Marta; Lupo, Vincenzo CSIC ORCID; Montpeyó, Marta; Sancho, Paula; Marcé-Grau, Anna; Hernández-Vara, Jorge; Darling, Alejandra; Jenkins, Alison; Fernández-Rodríguez, Sandra; Tello, Cristina; Ramírez-Jiménez, Laura; Pérez, Belén CSIC ORCID; Sánchez-Montáñez, Angel; Macaya, Alfons; Sobrido, Marıa J.; Martinez-Vicente, Marta; Pérez-Dueñas, Belén; Espinós, Carmen CSIC ORCID | artículo |
| openAccess |  | 2009 | Missense mutations in the SH3TC2 protein causing Charcot-Marie-Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathway | Lupo, Vincenzo CSIC ORCID; Galindo, Máximo I. CSIC ORCID; Martínez-Rubio, Dolores CSIC ORCID; Sevilla, Teresa; Vílchez, Juan J.; Palau Martínez, Francesc CSIC ORCID; Espinós, Carmen CSIC ORCID | artículo |
| openAccess |  | 2009 | Mutations in the urocanase gene UROC1 are associated with urocanic aciduria | Espinós, Carmen CSIC ORCID; Pineda, Mercé; Martínez-Rubio, Dolores CSIC ORCID; Lupo, Vincenzo CSIC ORCID; Ormazabal, Aida; Vilaseca, María A.; Spaapen, Leo J. M.; Palau Martínez, Francesc CSIC ORCID; Artuch, Rafael | artículo |
| openAccess |  | 6-oct-2022 | Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias | Martínez-Rubio, Dolores CSIC ORCID; Hinarejos, Isabel; Sancho, Paula; Gorría-Redondo, Nerea; Bernado-Fonz, Raquel; Tello, Cristina; Marco-Marín, Clara CSIC ORCID; Martí-Carrera, Itxaso; Martínez-González, María Jesús; García-Ribes, Ainhoa; Baviera-Muñoz, Raquel; Sastre-Bataller, Isabel; Martínez-Torres, Irene; Duat-Rodriguez, Anna; Janeiro, Patricia; Moreno, Esther; Pías-Peleteiro, Leticia; Gordo, Mar; O'Callaghan Ruiz-Gómez, Ángeles; Muñoz, Esteban; Martí, Maria Josep; Sánchez-Monteagudo, Ana; Fuster, Candela; Andrés-Bordería, Amparo; Pons, Roser Maria; Jesús-Maestre, Silvia; Mir, Pablo CSIC ORCID; Lupo, Vincenzo CSIC ORCID; Pérez-Dueñas, Belén; Darling, Alejandra; Aguilera-Albesa, Sergio; Espinós, Carmen CSIC ORCID | artículo |
| openAccess |  | 15-abr-2020 | Oxidative stress, a crossroad between rare diseases and neurodegeneration | Espinós, Carmen CSIC ORCID; Galindo, Máximo I. CSIC ORCID; García-Gimeno, María Adelaida CSIC ORCID; Ibáñez-Cabellos, José Santiago; Martínez-Rubio, Dolores CSIC ORCID; Millán, José María; Rodrigo, Regina; Sanz, Pascual CSIC ORCID ; Seco-Cervera, Marta; Sevilla, Teresa; Tapia, Andrea; Pallardó, Federico V. | artículo |
| openAccess |  | 10-nov-2022 | Protein misfolding and clearance in the pathogenesis of a new infantile onset ataxia caused by mutations in PRDX3 | Martínez-Rubio, Dolores CSIC ORCID; Rodríguez-Prieto, Ángela; Sancho, Paula; Navarro-González, Carmen; Gorría-Redondo, Nerea; Miquel-Leal, Javier; Marco-Marín, Clara CSIC ORCID; Jenkins, Alison; Soriano-Navarro, Mario; Hernández, Alberto; Pérez-Dueñas, Belén; Fazzari, Pietro CSIC ORCID; Aguilera-Albesa, Sergio; Espinós, Carmen CSIC ORCID | artículo |
| openAccess |  | 2010 | The USH2A c.2299delG mutation: dating its common origin in a Southern European population | Aller, Elena; Larrieu, Lise; Jaijo, Teresa CSIC ORCID; Baux, David; Espinós, Carmen CSIC ORCID; González-Candelas, Fernando CSIC ORCID; Nájera, Carmen; Palau Martínez, Francesc CSIC ORCID; Claustres, Mireille; Roux, Anne-Françoise; Millán, José M. | artículo |
