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Browsing by Author Espinós, Carmen

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Showing results 1 to 11 of 11
RightsPreviewIssue DateTitleAuthor(s)Type
openAccess2013 JIMD Rep 7-123.pdf.jpg6-Jul-20125-Oxoprolinuria in Heterozygous Patients for 5-Oxoprolinase (OPLAH) Missense ChangesCalpena, Eduardo ; Casado, Mercedes; Martínez-Rubio, Dolores ; Nascimento, Andrés; Colomer, Jaume; Gargallo, Eva; García-Cazorla, Angels; Palau Martínez, Francesc ; Artuch, Rafael; Espinós, Carmen artículo
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 ; Domínguez-Gonzalez, Cristina; Camacho, Ana ; Knecht, Erwin; Espinós, Carmen ; Lupo, Vincenzo artículo
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 ; Lupo, Vincenzo ; Pérez-Colosía, Víctor; Piñán-López, Esther; Palau Martínez, Francesc ; Espinós, Carmen artículo
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 ; Espinós, Carmen artículo
openAccessAutosomal+recessive+cerebellar+ataxias.pdf.jpg17-Nov-2006Autosomal recessive cerebellar ataxiasPalau Martínez, Francesc ; Espinós, Carmen artículo
closedAccessaccesoRestringido.pdf.jpg2006Cerebellar ataxia with coenzyme Q10 deficiency: Diagnosis and follow-up after coenzyme Q10 supplementationArtuch, 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, Mercéartículo
openAccess2011 J Peripher Nerv Syst 16-347 vers aut.pdf.jpgDec-2011Congenital hypomyelinating neuropathy due to a novel MPZ mutationSevilla, Teresa; Lupo, Vincenzo ; Sivera, Rafael; Marco-Marín, Clara ; Martínez-Rubio, Dolores ; Rivas, Eloy; Hernández, Arturo; Palau Martínez, Francesc ; Espinós, Carmen artículo
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 ; Galindo, Máximo I. ; Martínez-Rubio, Dolores ; Sevilla, Teresa; Vílchez, Juan J.; Palau Martínez, Francesc ; Espinós, Carmen artículo
openAccessUROCANASE J Med genet revised version_19.pdf.jpg2009Mutations in the urocanase gene UROC1 are associated with urocanic aciduriaEspinós, Carmen ; Pineda, Mercè; Martínez-Rubio, Dolores ; Lupo, Vincenzo ; Ormazabal, Aida; Vilaseca, María A.; Spaapen, Leo J. M.; Palau Martínez, Francesc ; Artuch, Rafaelartículo
antioxidants-09-00313-v2.pdf.jpg15-Apr-2020Oxidative Stress, a Crossroad Between Rare Diseases and NeurodegenerationEspinós, Carmen ; Galindo, Máximo Ibo; García-Gimeno, María Adelaida ; Ibáñez-Cabellos, José Santiago; Martínez-Rubio, Dolores ; Millán, José María; Rodrigo, Regina; Sanz, Pascual  ; Seco-Cervera, Marta; Sevilla, Teresa; Tapia, Andrea; Pallardó, Federico V.; ;
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 ; González-Candelas, Fernando; Nájera, Carmen; Palau Martínez, Francesc ; Claustres, Mireille; Roux, Anne-Françoise; Millán, José M.artículo