Publications
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Fernández-Álvarez P, Codina-Sola M, Valenzuela I, Teixidó-Turá G, Cueto-González A, Paramonov I, Antolín M, López-Grondona F, Vendrell T, Evangelista A, García-Arumí E and Tizzano E.
A systematic study and literature review of parental somatic mosaicism of FBN1 pathogenic variants in Marfan syndrome.
JOURNAL OF MEDICAL GENETICS . 59(6): 605-612. Number of citations: 7
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Bullich G, Matalonga L, Pujadas M, Papakonstantinou A, Piscia D, Tonda R, Artuch-Iriberri R, Gallano P, Garrabou G, González JR, Grinberg-Vaisman DR, Guitart M, Laurie S, Lázaro C, Luengo C, Martí R, Milà M, Ovelleiro D, Parra G, Pujol A, Tizzano E, Macaya A, Palau F, Ribes A, Pérez-Jurado LA and Beltran S.
Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases.
JOURNAL OF MOLECULAR DIAGNOSTICS . 24(5): 529-542. Number of citations: 12
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Luque J, Mendes I, Gómez B, Morte B, de Heredia ML, Herreras E, Corrochano V, Bueren J, Gallano P, Artuch-Iriberri R, Fillat C, Pérez-Jurado LA, Montoliu L, Carracedo Á, Millán JM, Webb SM, Palau F, CIBERER Network and Lapunzina P.
CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative.
CLINICAL GENETICS . 101(5-6): 481-493. Number of citations: 9
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Valenzuela I, Guillén Benítez E, Sanchez-Montanez A, Limeres J, López-Grondona F, Cuscó I and Tizzano E.
Vein of Galen aneurysm, dilated cardiomyopathy, and slender habitus in a patient with a recurrent pathogenic variant in PACS2.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A . 188(3): 991-995. Number of citations: 4
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Tizzano E, Christie-Brown V, Baranello G, Germanenko O, Gray A, Krstic M, Lilien C, Patel H, Servais L and Scoto M.
Clinical Trial Readiness for Spinal Muscular Atrophy: Experience of an International Educational-Training Initiative.
Journal of neuromuscular diseases . 9(6): 809-820. Number of citations: 1
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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: 117
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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: 46
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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: 10
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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: 21
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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: 5