La atrofia muscular espinal en el nuevo escenario terapéutico

by Eduardo F. Tizzano
Published 2018-09-01

The Importance of Digging into the Genetics of <i>SMN</i> Genes in the Therapeutic Scenario of Spinal Muscular Atrophy

by Mar Costa-Roger, Laura Blasco-Pérez, Ivon Cuscó, Eduardo F. Tizzano
Published 2021-08-01

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

by Maite Calucho, Silvia Gartner, Paula Barranco, Paula Fernández-Álvarez, Raquel García Pérez, Eduardo F. Tizzano
Published 2021-07-01

The Burden of Spinal Muscular Atrophy on Informal Caregivers

by Isaac Aranda-Reneo, Luz María Peña-Longobardo, Juan Oliva-Moreno, Svenja Litzkendorf, Isabelle Durand-Zaleski, Eduardo F. Tizzano, Julio López-Bastida
Published 2020-12-01

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

by Sara Bernal, Irene Pelaez, Laura Alias, Manel Baena, Juan A. De Pablo-Moreno, Luis J. Serrano, M. Dolores Camero, Eduardo F. Tizzano, Ruben Berrueco, Antonio Liras
Published 2021-09-01

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

by Andrea Martin‐Nalda, Anna M. Cueto‐González, Ana Argudo‐Ramírez, Jose L. Marin‐Soria, Monica Martinez‐Gallo, Roger Colobran, Albert Plaja, Neus Castells, Jacques Riviere, Eduardo F. Tizzano, Pere Soler‐Palacin
Published 2019-12-01

Neurofilament as a potential biomarker for spinal muscular atrophy

by Basil T. Darras, Thomas O. Crawford, Richard S. Finkel, Eugenio Mercuri, Darryl C. De Vivo, Maryam Oskoui, Eduardo F. Tizzano, Monique M. Ryan, Francesco Muntoni, Guolin Zhao, John Staropoli, Alexander McCampbell, Marco Petrillo, Christopher Stebbins, Stephanie Fradette, Wildon Farwell, Charlotte J. Sumner
Published 2019-05-01

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

by María Cristina Estañ, Elisa Fernández-Núñez, Maha S. Zaki, María Isabel Esteban, Sandra Donkervoort, Cynthia Hawkins, José A. Caparros-Martin, Dimah Saade, Ying Hu, Véronique Bolduc, Katherine Ru-Yui Chao, Julián Nevado, Ana Lamuedra, Raquel Largo, Gabriel Herrero-Beaumont, Javier Regadera, Concepción Hernandez-Chico, Eduardo F. Tizzano, Victor Martinez-Glez, Jaime J. Carvajal, Ruiting Zong, David L. Nelson, Ghada A. Otaify, Samia Temtamy, Mona Aglan, Mahmoud Issa, Carsten G. Bönnemann, Pablo Lapunzina, Grace Yoon, Victor L. Ruiz-Perez
Published 2019-02-01