Publications
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Mercuri E, Deconinck N, Mazzone ES, Nascimento-Osorio A, Oskoui M, Saito K, Vuillerot C, Baranello G, Boespflug-Tanguy O, Goemans N, Kirschner J, Kostera-Pruszczyk A, Servais L, Gerber M, Gorni K, Khwaja O, Kletzl H, Scalco RS, Staunton H, Yeung WY, Martin C, Fontoura P, Day JW and SUNFISH Study Group.
Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled trial.
LANCET NEUROLOGY . 21(1): 42-52. Number of citations: 138
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Boemer F, Caberg JH, Beckers P, Dideberg V, di Fiore S, Bours V, Marie S, Dewulf J, Marcelis L, Deconinck N, Daron A, Blasco-Perez L, Tizzano E, Hiligsmann M, Lombet J, Pereira T, Lopez-Granados L, Shalchian-Tehran S, van Assche V, Willems A, Huybrechts S, Mast B, van Olden R, Dangouloff T and Servais L.
Three years pilot of spinal muscular atrophy newborn screening turned into official program in Southern Belgium.
SCIENTIFIC REPORTS . 11(1): 19922-19922. Number of citations: 52
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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
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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: 28
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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
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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.
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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: 22
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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: 124
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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
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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