Cell-Specific Survival Motor Neuron Gene Expression during Human Development of the Central Nervous System : Implications for the Pathogenesis of Spinal Muscular Atrophy

Por Tizzano, Eduardo F., Cabot, Carmen, Baiget, Montserrat
Publicado em 1998

Absence of large intragenic rearrangements in the DPYD gene in a large cohort of colorectal cancer patients treated with 5-FU-based chemotherapy

Por Paré, Laia, Paez, David, Salazar, Juliana, del Rio, Elisabeth, Tizzano, Eduardo, Marcuello, Eugenio, Baiget, Montserrat
Publicado em 2010

Identification of 31 novel mutations in the F8 gene in Spanish hemophilia A patients: structural analysis of 20 missense mutations suggests new intermolecular binding sites

Por Venceslá, Adoración, Corral-Rodríguez, María Ángeles, Baena, Manel, Cornet, Mónica, Domènech, Montserrat, Baiget, Montserrat, Fuentes-Prior, Pablo, Tizzano, Eduardo F.
Publicado em 2008

Treatment of spinal muscular atrophy cells with drugs that upregulate SMN expression reveals inter- and intra-patient variability

Por Also-Rallo, Eva, Alías, Laura, Martínez-Hernández, Rebeca, Caselles, Lidia, Barceló, María J, Baiget, Montserrat, Bernal, Sara, Tizzano, Eduardo F
Publicado em 2011

Neuroprotective Effect of Non-viral Gene Therapy Treatment Based on Tetanus Toxin C-fragment in a Severe Mouse Model of Spinal Muscular Atrophy

Por Oliván, Sara, Calvo, Ana C., Rando, Amaya, Herrando-Grabulosa, Mireia, Manzano, Raquel, Zaragoza, Pilar, Tizzano, Eduardo F., Aquilera, Jose, Osta, Rosario
Publicado no Front Mol Neurosci (2016)

Decay in survival motor neuron and plastin 3 levels during differentiation of iPSC-derived human motor neurons

Por Boza-Morán, María G, Martínez-Hernández, Rebeca, Bernal, Sara, Wanisch, Klaus, Also-Rallo, Eva, Le Heron, Anita, Alías, Laura, Denis, Cécile, Girard, Mathilde, Yee, Jiing-Kuan, Tizzano, Eduardo F., Yáñez-Muñoz, Rafael J
Publicado no Sci Rep (2015)

A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes

Por Urreizti, Roser, Cueto-Gonzalez, Anna Maria, Franco-Valls, Héctor, Mort-Farre, Sílvia, Roca-Ayats, Neus, Ponomarenko, Julia, Cozzuto, Luca, Company, Carlos, Bosio, Mattia, Ossowski, Stephan, Montfort, Magda, Hecht, Jochen, Tizzano, Eduardo F., Cormand, Bru, Vilageliu, Lluïsa, Opitz, John M., Neri, Giovanni, Grinberg, Daniel, Balcells, Susana
Publicado no Sci Rep (2017)