| 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  ; Casado, Mercedes; Martínez-Rubio, Dolores ; Nascimento, Andrés; Colomer, Jaume; Gargallo, Eva; García-Cazorla, Angels; Palau Martínez, Francesc ; Artuch, Rafael; Espinós, Carmen | 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 ; Domínguez-Gonzalez, Cristina; Camacho, Ana ; Knecht, Erwin; Espinós, Carmen ; Lupo, Vincenzo | 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 ; Lupo, Vincenzo ; Pérez-Colosía, Víctor; Pi?án-López, Esther; Palau Martínez, Francesc ; Espinós, Carmen | 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 ; Espinós, Carmen | artículo |
| openAccess |  | 17-nov-2006 | Autosomal recessive cerebellar ataxias | Palau Martínez, Francesc ; Espinós, Carmen | artículo |
| closedAccess |  | 2006 | Cerebellar ataxia with coenzyme Q10 deficiency: Diagnosis and follow-up after coenzyme Q10 supplementation | Artuch, Rafael; Brea-Calvo, Gloria ; Briones, Paz; Aracil, Asunción; Galván, Marta; Espinós, Carmen ; Corral, Jordi; Volpini, Víctor; Ribes, Antonia; Andreu, Antoni L.; Palau Martínez, Francesc ; Sánchez-Alcázar, José Antonio ; Navas, Plácido ; Pineda, Mercé | artículo |
| openAccess |  | dic-2011 | Congenital hypomyelinating neuropathy due to a novel MPZ mutation | Sevilla, Teresa; Lupo, Vincenzo ; Sivera, Rafael; Marco-Marín, Clara ; Martínez-Rubio, Dolores ; Rivas, Eloy; Hernández, Arturo; Palau Martínez, Francesc ; Espinós, Carmen | 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 ; Galindo, Máximo I. ; Martínez-Rubio, Dolores ; Sevilla, Teresa; Vílchez, Juan J.; Palau Martínez, Francesc ; Espinós, Carmen | artículo |
| openAccess |  | 2009 | Mutations in the urocanase gene UROC1 are associated with urocanic aciduria | Espinós, Carmen ; Pineda, Mercè; Martínez-Rubio, Dolores ; Lupo, Vincenzo ; Ormazabal, Aida; Vilaseca, María A.; Spaapen, Leo J. M.; Palau Martínez, Francesc ; Artuch, Rafael | artículo |
|  | 15-abr-2020 | Oxidative Stress, a Crossroad Between Rare Diseases and Neurodegeneration | Espinós, Carmen ; Galindo, Máximo Ibo; García-Gimeno, María Adelaida ; Ibá?ez-Cabellos, José Santiago; Martínez-Rubio, Dolores ; Millán, José María; Rodrigo, Regina; Sanz, Pascual ; Seco-Cervera, Marta; Sevilla, Teresa; Tapia, Andrea; Pallardó, Federico V. | ; ; |
| openAccess |  | 2010 | The USH2A c.2299delG mutation: dating its common origin in a Southern European population | Aller, Elena; Larrieu, Lise; Jaijo, Teresa; Baux, David; Espinós, Carmen ; González-Candelas, Fernando; Nájera, Carmen; Palau Martínez, Francesc ; Claustres, Mireille; Roux, Anne-Fran?oise; Millán, José M. | artículo |
