Perspectives in genetic counseling for spinal muscular atrophy in the new therapeutic era: early pre-symptomatic intervention and test in minors

por Serra-Juhe, Clara, Tizzano, Eduardo F.
Publicado 2019

25 years of the SMN genes: the Copernican revolution of spinal muscular atrophy

por Tiziano, Francesco Danilo, Tizzano, Eduardo F.
Publicado 2020

The Importance of Digging into the Genetics of SMN Genes in the Therapeutic Scenario of Spinal Muscular Atrophy

por Costa-Roger, Mar, Blasco-Pérez, Laura, Cuscó, Ivon, Tizzano, Eduardo F.
Publicado 2021

Validation of nasospheroids to assay CFTR functionality and modulator responses in cystic fibrosis

por Calucho, Maite, Gartner, Silvia, Barranco, Paula, Fernández-Álvarez, Paula, Pérez, Raquel García, Tizzano, Eduardo F.
Publicado 2021

Recommendations for Interpreting and Reporting Silent Carrier and Disease-Modifying Variants in SMA Testing Workflows

por Milligan, John N., Blasco-Pérez, Laura, Costa-Roger, Mar, Codina-Solà, Marta, Tizzano, Eduardo F.
Publicado 2022

Unusual context of CENPJ variants and primary microcephaly: compound heterozygosity and nonconsanguinity in an Argentinian patient

por Cueto-González, Anna M., Fernández-Cancio, Mónica, Fernández-Alvarez, Paula, García-Arumí, Elena, Tizzano, Eduardo F.
Publicado 2020

Practical guidelines to manage discordant situations of SMN2 copy number in patients with spinal muscular atrophy

por Cuscó, Ivon, Bernal, Sara, Blasco-Pérez, Laura, Calucho, Maite, Alias, Laura, Fuentes-Prior, Pablo, Tizzano, Eduardo F.
Publicado 2020

Beyond copy number: A new, rapid, and versatile method for sequencing the entire SMN2 gene in SMA patients

por Blasco‐Pérez, Laura, Paramonov, Ida, Leno, Jordi, Bernal, Sara, Alias, Laura, Fuentes‐Prior, Pablo, Cuscó, Ivon, Tizzano, Eduardo F.
Publicado 2021

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 2016

The Burden of Spinal Muscular Atrophy on Informal Caregivers

por Aranda-Reneo, Isaac, Peña-Longobardo, Luz María, Oliva-Moreno, Juan, Litzkendorf, Svenja, Durand-Zaleski, Isabelle, Tizzano, Eduardo F., López-Bastida, Julio
Publicado 2020

High Mutational Heterogeneity, and New Mutations in the Human Coagulation Factor V Gene. Future Perspectives for Factor V Deficiency Using Recombinant and Advanced Therapies

por Bernal, Sara, Pelaez, Irene, Alias, Laura, Baena, Manel, De Pablo-Moreno, Juan A., Serrano, Luis J., Camero, M. Dolores, Tizzano, Eduardo F., Berrueco, Ruben, Liras, Antonio
Publicado 2021

Identification of 22q11.2 deletion syndrome via newborn screening for severe combined immunodeficiency. Two years’ experience in Catalonia (Spain)

por Martin‐Nalda, Andrea, Cueto‐González, Anna M., Argudo‐Ramírez, Ana, Marin‐Soria, Jose L., Martinez‐Gallo, Monica, Colobran, Roger, Plaja, Albert, Castells, Neus, Riviere, Jacques, Tizzano, Eduardo F., Soler‐Palacin, Pere
Publicado 2019

European ad-hoc consensus statement on gene replacement therapy for spinal muscular atrophy

por 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
Publicado 2020

Combination disease‐modifying treatment in spinal muscular atrophy: A proposed classification

por Proud, Crystal M., Mercuri, Eugenio, Finkel, Richard S., Kirschner, Janbernd, De Vivo, Darryl C., Muntoni, Francesco, Saito, Kayoko, Tizzano, Eduardo F., Desguerre, Isabelle, Quijano‐Roy, Susana, Benguerba, Kamal, Raju, Dheeraj, Faulkner, Eric, Servais, Laurent
Publicado 2023

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 2015

A Novel Intragenic Duplication in the HDAC8 Gene Underlying a Case of Cornelia de Lange Syndrome

por Lucia-Campos, Cristina, Valenzuela, Irene, Latorre-Pellicer, Ana, Ros-Pardo, David, Gil-Salvador, Marta, Arnedo, María, Puisac, Beatriz, Castells, Neus, Plaja, Alberto, Tenes, Anna, Cuscó, Ivon, Trujillano, Laura, Ramos, Feliciano J., Tizzano, Eduardo F., Gómez-Puertas, Paulino, Pié, Juan
Publicado 2022

Neurofilament as a potential biomarker for spinal muscular atrophy

por Darras, Basil T., Crawford, Thomas O., Finkel, Richard S., Mercuri, Eugenio, De Vivo, Darryl C., Oskoui, Maryam, Tizzano, Eduardo F., Ryan, Monique M., Muntoni, Francesco, Zhao, Guolin, Staropoli, John, McCampbell, Alexander, Petrillo, Marco, Stebbins, Christopher, Fradette, Stephanie, Farwell, Wildon, Sumner, Charlotte J.
Publicado 2019

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 2017

Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2

por Blasco-Pérez, Laura, Costa-Roger, Mar, Leno-Colorado, Jordi, Bernal, Sara, Alias, Laura, Codina-Solà, Marta, Martínez-Cruz, Desirée, Castiglioni, Claudia, Bertini, Enrico, Travaglini, Lorena, Millán, José M., Aller, Elena, Sotoca, Javier, Juntas, Raúl, Hoei-Hansen, Christina Engel, Moreno-Escribano, Antonio, Guillén-Navarro, Encarna, Costa-Comellas, Laura, Munell, Francina, Boronat, Susana, Rojas-García, Ricardo, Povedano, Mónica, Cuscó, Ivon, Tizzano, Eduardo F.
Publicado 2022

Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy

por Estañ, María Cristina, Fernández-Núñez, Elisa, Zaki, Maha S., Esteban, María Isabel, Donkervoort, Sandra, Hawkins, Cynthia, Caparros-Martin, José A., Saade, Dimah, Hu, Ying, Bolduc, Véronique, Chao, Katherine Ru-Yui, Nevado, Julián, Lamuedra, Ana, Largo, Raquel, Herrero-Beaumont, Gabriel, Regadera, Javier, Hernandez-Chico, Concepción, Tizzano, Eduardo F., Martinez-Glez, Victor, Carvajal, Jaime J., Zong, Ruiting, Nelson, David L., Otaify, Ghada A., Temtamy, Samia, Aglan, Mona, Issa, Mahmoud, Bönnemann, Carsten G., Lapunzina, Pablo, Yoon, Grace, Ruiz-Perez, Victor L.
Publicado 2019