Publications
-
Bernal S, Pelaez I, Alias L, Baena M, De Pablo-Moreno JA, Serrano LJ, Camero MD, Tizzano E, Berrueco R and Liras A.
High Mutational Heterogeneity, and New Mutations in the Human Coagulation Factor V Gene. Future Perspectives for Factor V Deficiency Using Recombinant and Advanced Therapies.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 22(18): 9705. Number of citations: 11
-
Costa-Roger M, Blasco-Perez L, Cuscó I and Tizzano E.
The Importance of Digging into the Genetics of SMN Genes in the Therapeutic Scenario of Spinal Muscular Atrophy.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 22(16): . Number of citations: 26
-
Calucho M, Gartner S, Barranco P, Fernández-Álvarez P, Pérez RG and Tizzano E.
Validation of nasospheroids to assay CFTR functionality and modulator responses in cystic fibrosis.
SCIENTIFIC REPORTS . 11(1): 15511-15511. Number of citations: 6
-
Álvarez A, Loor K, Fernández-Alvarez P, Gartner S, Polverino E, Culebras M, Clofent D, García Arumí E, Tizzano E and de Gracia J.
Long-term Follow-up in Adult Patients with Cystic Fibrosis and Deep Intronic Splicing Variants.
ARCHIVOS DE BRONCONEUMOLOGIA . 57(7): 501-503.
-
Szot JO, Slavotinek A, Chong K, Brandau O, Nezarati M, Cueto-González AM, Patel MS, Devine WP, Rego S, Acyinena AP, Shannon P, Myles-Reid D, Blaser S, Mieghem TV, Yavuz-Kienle H, Skladny H, Miller K, Riera MDT, Martínez SA, Tizzano E, Dupuis L, James Stavropoulos D, McNiven V, Mendoza-Londono R, Elliott AM, Phillips RS, Chapman G and Dunwoodie SL.
New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency Disorder.
HUMAN MUTATION . 42(7): 862-876. Number of citations: 21
-
Dangouloff T, Vršcaj E, Servais L and Osredkar D.
Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go.
NEUROMUSCULAR DISORDERS . 31(6): 574-582. Number of citations: 123
-
Blasco-Perez L, Paramonov I, Leno J, Bernal S, Alias L, Fuentes-Prior P, Cuscó I and Tizzano E.
Beyond copy number: A new, rapid, and versatile method for sequencing the entire SMN2 gene in SMA patients.
HUMAN MUTATION . 42(6): 787-795. Number of citations: 32
-
Rovira-Moreno, E, Abuli, A, Codina-Sola, M, Valenzuela, I, Serra-Juhe, C, Cusco, I, Borregán M, Cueto-Gonzalez, A, Vendrell, T, Lopez-Grondona, F, Brun-Gasca, C, Brignani, E, Martinez-Ribot, L, Garci-Espejo, R, Cruz, J, Garcia-Arumi, E and Tizzano E.
Beyond the disease itself: A cross-cutting educational initiative for patients and families with rare diseases.
JOURNAL OF GENETIC COUNSELING . 30(3): 693-700. Number of citations: 2
-
Tenorio-Castaño J, Morte B, Nevado J, Martinez-Glez V, Santos-Simarro F, García-Miñaúr S, Palomares-Bralo M, Pacio-Míguez M, Gómez B, Arias P, Alcochea A, Carrión J, Arias P, Almoguera B, López-Grondona F, Lorda-Sanchez I, Galán-Gómez E, Valenzuela I, Méndez Perez MP, Cuscó I, Barros F, Pié J, Ramos S, Ramos FJ, Kuechler A, Tizzano E, Ayuso C, Kaiser FJ, Pérez-Jurado LA, Carracedo Á, The ENoD-Ciberer Consortium, The Side Consortium and Lapunzina P.
Schuurs-Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review.
GENES . 12(5): . Number of citations: 17
-
Baz-Redón N, Rovira-Amigo S, Paramonov I, Castillo-Corullón S, Cols M, Antolín M, García Arumí E, Torrent-Vernetta A, de Mir Messa I, Gartner S, Iglesias Serrano I, Caballero-Rabasco MA, Asensio de la Cruz Ó, Vizmanos-Lamotte G, Martín de Vicente C, Martínez-Colls MDM, Reula A, Escribano A, Dasí F, Armengot-Carceller M, Polverino E, Amengual Pieras E, Amaro-Rodríguez R, Garrido-Pontnou M, Tizzano E, Camats-Tarruella N, Fernández-Cancio M and Moreno-Galdó A.
Implementation of a Gene Panel for Genetic Diagnosis of Primary Ciliary Dyskinesia.
ARCHIVOS DE BRONCONEUMOLOGIA . 57(3): 186-194. Number of citations: 10