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

Volltext

TERAPIAS AVANZADAS EN ENFERMEDADES GENÉTICAS: EL EJEMPLO DE LA ATROFIA MUSCULAR ESPINAL von Tizzano, E

Volltext

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

Volltext

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.

Volltext

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

Volltext

24 Deep intronic mutations in cystic fibrosis patients detected by next generation sequencing von Fernandez, P, Reyes, K. Loor, Álvarez-Rios, A.I, Arumí, E. Garcia, Chang, P, Culebras, M, de Gracia, J, Gartner, S, Tizzano, E

Volltext

Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy von Finkel, Richard S, Mercuri, Eugenio, Darras, Basil T, Connolly, Anne M, Kuntz, Nancy L, Kirschner, Janbernd, Chiriboga, Claudia A, Saito, Kayoko, Servais, Laurent, Tizzano, Eduardo, Topaloglu, Haluk, Tulinius, Már, Montes, Jacqueline, Glanzman, Allan M, Bishop, Kathie, Zhong, Z. John, Gheuens, Sarah, Bennett, C. Frank, Schneider, Eugene, Farwell, Wildon, De Vivo, Darryl C

Volltext

134P Beyond the “walker” label: functional diversity and disease impact in spinal muscular atrophy patients with walking ability von Cattinari, M., Hervás, D., de Lemus, M., Tizzano, E.

Volltext

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

Volltext

Analysis of the involvement of the NR2E3 gene in autosomal recessive retinal dystrophies von Bernal, S, Solans, T, Gamundi, MJ, Hernan, I, De Jorge, L, Carballo, M, Navarro, R, Tizzano, E, Ayuso, C, Baiget, M

Volltext

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.

Volltext

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

Volltext

163P Real-World outcomes following onasemnogene abeparvovec in patients with SMA and One SMN2 gene copy: findings from the RESTORE Registry von Servais, L., Mathews, K., Bernes, S., Lakhotia, A., Tizzano, E., Raju, D., Benguerba, K., Reyna, S., Dabbous, O., Finkel, R.

Volltext

134th ENMC International Workshop: Outcome Measures and Treatment of Spinal Muscular Atrophy, 11-13 February 2005, Naarden, The Netherlands von Bertini, E, Burghes, A, Bushby, K, Estournet-Mathiaud, B, Finkel, R S, Hughes, R A C, Iannaccone, S T, Melki, J, Mercuri, E, Muntoni, F, Voit, T, Reitter, B, Swoboda, K J, Tiziano, D, Tizzano, E, Topaloglu, H, Wirth, B, Zerres, K

Volltext

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.

Volltext

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

Volltext

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

Volltext

203P Towards a better analysis of SMN2 structures and variants by complete sequencing of the SMN locus in an international cohort of 564 SMA patients von Tizzano, E., Costa-Roger, M., Blasco-Pérez, L., Tenés, A., Martínez-Cruz, D., Leno-Colorado, J., Civit, D., Codina-Sola, M.

Volltext

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.

Volltext

La Genética Clínica en la actualidad von Tizzano Ferrari, Eduardo

Volltext