The clinical landscape for SMA in a new therapeutic era von Talbot, K, Tizzano, E F

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The c.859G>C variant in the SMN2 gene is associated with types II and III SMA and originates from a common ancestor von Bernal, S, Alías, L, Barceló, M J, Also-Rallo, E, Martínez-Hernández, R, Gámez, J, Guillén-Navarro, E, Rosell, J, Hernando, I, Rodríguez-Alvarez, F J, Borrego, S, Millán, J M, Hernández-Chico, C, Baiget, M, Fuentes-Prior, P, Tizzano, E F

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Improving detection and genetic counseling in carriers of spinal muscular atrophy with two copies of the SMN1 gene von Alías, L., Barceló, M.J., Bernal, S., Martínez-Hernández, R., Also-Rallo, E., Vázquez, C., Santana, A., Millán, J.M., Baiget, M., Tizzano, E.F.

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SMN2 copy number predicts acute or chronic spinal muscular atrophy but does not account for intrafamilial variability in siblings von CUSCO, I, BARCELO, M. J, ROJAS-GARCIA, R, ILLA, I, GAMEZ, J, CERVERA, C, POU, A, IZQUIERDO, G, BAIGET, M, TIZZANO, E. F

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Detection of novel mutations in the SMN Tudor domain in type I SMA patients von CUSCO, I, BARCELO, M. Jesus, DEL RIO, E, BAIGET, M, TIZZANO, E. F

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Survival and respiratory decline are not related to homozygous SMN2 deletions in ALS patients von GAMEZ, J, BARCELO, M. J, MUNOZ, X, CARMONA, F, CUSCO, I, BAIGET, M, CERVERA, C, TIZZANO, E. F

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Differential cellular expression of cystic fibrosis transmembrane regulator in human reproductive tissues. Clues for the infertility in patients with cystic fibrosis von Tizzano, EF, Silver, MM, Chitayat, D, Benichou, JC, Buchwald, M

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Cell-Specific Survival Motor Neuron Gene Expression during Human Development of the Central Nervous System : Implications for the Pathogenesis of Spinal Muscular Atrophy von Tizzano, Eduardo F, Cabot, Carmen, Baiget, Montserrat

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Cell-specific localization of CFTR mRNA shows developmentally regulated expression in human fetal tissues von Tizzano, Eduardo F., Chitayat, David, Buchwald, Manuel

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Carrier frequency of SMA by quantitative analysis of the SMN1 deletion in the Iranian population von Hasanzad, M., Azad, M., Kahrizi, K., Saffar, B. S., Nafisi, S., Keyhanidoust, Z., Azimian, M., Refah, A. A., Also, E., Urtizberea, J. A., Tizzano, E. F., Najmabadi, H.

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Terapias avanzadas en enfermedades raras: la atrofia muscular espinal como ejemplo von Tizzano, Eduardo F

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Characterisation of SMN hybrid genes in Spanish SMA patients : de novo, homozygous and compound heterozygous cases von CUSCO, Ivon, BARCELO, Maria J, DEL RIO, Elisabeth, MARTIN, Yolanda, HERNANDEZ-CHICO, Concepcion, BUSSAGLIA, Elena, BAIGET, Montserrat, TIZZANO, Eduardo F

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F8 gene dosage defects in atypical patients with severe haemophilia A von VENCESLÁ, A., BAENA, M., GARRIDO, R. P., NÚÑEZ, R., VELASCO, F., ROSELL, J., VILLAR, A., JIMÉNEZ-YUSTE, V., BAIGET, M., TIZZANO, E. F.

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Modifier genes in haemophilia: their expansion in the human genome von TIZZANO, E. F., CORNET, M., DOMÈNECH, M., BAIGET, M.

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Regional expression of CFTR in developing human respiratory tissues von Tizzano, EF, O'Brodovich, H, Chitayat, D, Benichou, JC, Buchwald, M

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Severe haemophilia A in a female resulting from an inherited gross deletion and a de novo codon deletion in the F8 gene von VENCESLÁ, A., FUENTES-PRIOR, P., BAENA, M., QUINTANA, M., BAIGET, M., TIZZANO, E. F.

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Exclusion of mosaicism in Spanish haemophilia A families with inversion of intron 22 von Tizzano, E. F., Cornet, M., Domènech, M., Baiget, M.

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Cramps and minimal EMG abnormalities as preclinical manifestations of spinal muscular atrophy patients with homozygous deletions of the SMN gene von BUSSAGLIA, E, TIZZANO, E. F, ILLA, I, CERVERA, C, BAIGET, M

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European ad-hoc consensus statement on gene replacement therapy for spinal muscular atrophy von Kirschner, Janbernd, Butoianu, Nina, Goemans, Nathalie, Haberlova, Jana, Kostera-Pruszczyk, Anna, Mercuri, Eugenio, van der Pol, W. Ludo, Quijano-Roy, Susana, Sejersen, Thomas, Tizzano, Eduardo F., Ziegler, Andreas, Servais, Laurent, Muntoni, Francesco

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Application of intron 9 and intron 25 dinucleotide repeats of the factor VIII gene for carrier diagnosis in haemophilia A von VENCESLÁ, A., BAENA, M., FARES TAIE, L., CORNET, M., BAIGET, M., TIZZANO, E. F.

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