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Browsing by Author Espinós, Carmen

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RightsPreviewIssue DateTitleAuthor(s)Type
openAccess2013 JIMD Rep 7-123.pdf.jpg6-Jul-20125-Oxoprolinuria in Heterozygous Patients for 5-Oxoprolinase (OPLAH) Missense ChangesCalpena, Eduardo CSIC ORCID; Casado, Mercedes; Martínez-Rubio, Dolores CSIC; Nascimento, Andrés; Colomer, Jaume; Gargallo, Eva; García-Cazorla, Angels; Palau Martínez, Francesc CSIC ORCID; Artuch, Rafael; Espinós, Carmen CSIC ORCIDartículo
openAccess2017 Neurogenetics 18-245-Manuscrito.pdf.jpgDec-2017A newly distal hereditary motor neuropathy caused by a rare AIFM1 mutationSancho, 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 ORCIDartículo
openAccessMAIN_DOCUMENT.pdf.jpgSep-2008A novel delins mutation in the alpha-TTP gene in a family segregating ataxia with isolated vitamin E deficiencyFernández-Burriel, Miguel; Martínez-Rubio, Dolores CSIC; Lupo, Vincenzo CSIC ORCID; Pérez-Colosía, Víctor; Piñán-López, Esther; Palau Martínez, Francesc CSIC ORCID; Espinós, Carmen CSIC ORCIDartículo
openAccesshumu-2004-0355R2_Palau.pdf.jpg2005Ancient origin of the CAG expansion causing Huntington disease in a Spanish populationGarcía-Planells, Javier; Burguera, Juan A.; Solís, Pilar; Millán, José M.; Ginestar, Millán; Palau Martínez, Francesc CSIC ORCID; Espinós, Carmen CSIC ORCIDartículo
openAccessAutosomal+recessive+cerebellar+ataxias.pdf.jpg17-Nov-2006Autosomal recessive cerebellar ataxiasPalau Martínez, Francesc CSIC ORCID; Espinós, Carmen CSIC ORCIDartículo
closedAccessaccesoRestringido.pdf.jpg2006Cerebellar ataxia with coenzyme Q10 deficiency: Diagnosis and follow-up after coenzyme Q10 supplementationArtuch, Rafael; Brea-Calvo, Gloria CSIC ORCID; Briones, Paz; 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, Mercéartículo
closedAccessaccesoRestringido.pdf.jpg2013Clinical, biochemical, molecular and therapeutic aspects of 2 new cases of 2-aminoadipic semialdehyde synthase deficiencyTondo, Mireia; Calpena, Eduardo CSIC ORCID; Arriola, Gema; Sanz, Paloma; Martorell, Loreto; Ormazabal, Aida; Castejón, Esperanza; Ugarte, Magdalena CSIC; Espinós, Carmen CSIC ORCID; Pérez, Belén; Pérez-Dueñas, Belén; Artuch, Rafaelartículo
openAccess2011 J Peripher Nerv Syst 16-347 vers aut.pdf.jpgDec-2011Congenital hypomyelinating neuropathy due to a novel MPZ mutationSevilla, Teresa; Lupo, Vincenzo CSIC ORCID; Sivera, Rafael; Marco-Marín, Clara CSIC ORCID; Martínez-Rubio, Dolores CSIC; Rivas, Eloy; Hernández, Arturo; Palau Martínez, Francesc CSIC ORCID; Espinós, Carmen CSIC ORCIDartículo
closedAccessaccesoRestringido.pdf.jpg1-Nov-2020Delineating the motor phenotype of SGCE-myoclonus dystonia syndromeVanegas, 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; Espinós, Carmen CSIC ORCID; Macaya, Alfons; Cabrera, José Carlos; Pérez-Dueñas, Belenartículo
openAccessGeneration of three human_Machuca_PV_Art2021.pdf.jpgMay-2021Generation of three human iPSC lines from PLAN (PLA2G6-associated neurodegeneration) patientsMachuca, 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 ORCIDartículo
openAccessPérezB_ImpairedProteasomeActivity.pdf.jpg21-Aug-2020Impaired proteasome activity and neurodegeneration with brain iron accumulation in FBXO7 defectCorrea-Vela, Marta; Lupo, Vicenzo; Montpeyó, Marta; Sancho, Paula; Marcé-Grau, Anna; Hernández-Vara, Jorge; Darling, Alejandra; Jenkins, Alison; Fernández-Rodríguez, Sandra; Tello, Cristina; Ramírez-Jiménez, Laura; Pérez, Belén; Sánchez-Montáñez, Angel; Macaya, Alfons; Sobrido, Marıa J.; Martinez-Vicente, Marta; Pérez-Dueñas, Belen; Espinós, Carmen CSIC ORCIDartículo
openAccessLupo_Text.pdf.jpg2009Missense mutations in the SH3TC2 protein causing Charcot-Marie-Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathwayLupo, Vincenzo CSIC ORCID; Galindo, Máximo I. CSIC ORCID; Martínez-Rubio, Dolores CSIC; Sevilla, Teresa; Vílchez, Juan J.; Palau Martínez, Francesc CSIC ORCID; Espinós, Carmen CSIC ORCIDartículo
openAccessUROCANASE J Med genet revised version_19.pdf.jpg2009Mutations in the urocanase gene UROC1 are associated with urocanic aciduriaEspinós, Carmen CSIC ORCID; Pineda, Mercè; Martínez-Rubio, Dolores CSIC; Lupo, Vincenzo CSIC ORCID; Ormazabal, Aida; Vilaseca, María A.; Spaapen, Leo J. M.; Palau Martínez, Francesc CSIC ORCID; Artuch, Rafaelartículo
openAccessoxidative_rare_diseases_neurodegeneration.pdf.jpg15-Apr-2020Oxidative stress, a crossroad between rare diseases and neurodegenerationEspinós, Carmen CSIC ORCID; Galindo, Máximo I. CSIC ORCID; García-Gimeno, María Adelaida CSIC ORCID; Ibáñez-Cabellos, José Santiago; Martínez-Rubio, Dolores CSIC; Millán, José María; Rodrigo, Regina; Sanz, Pascual CSIC ORCID ; Seco-Cervera, Marta; Sevilla, Teresa; Tapia, Andrea; Pallardó, Federico V.artículo
openAccess10Aller_EurJHumGenet.pdf.jpg2010The USH2A c.2299delG mutation: dating its common origin in a Southern European populationAller, Elena; Larrieu, Lise; Jaijo, Teresa; Baux, David; Espinós, Carmen CSIC ORCID; González-Candelas, Fernando; Nájera, Carmen; Palau Martínez, Francesc CSIC ORCID; Claustres, Mireille; Roux, Anne-Françoise; Millán, José M.artículo