Publications
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Tizzano E, Gallano Petit P and Baiget Bastus M.
Importancia del diagnóstico molecular en la detección de varones sanos transmisores de síndrome del X-frágil.
Anales espanoles de pediatria . 36(4): 272-276.
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Tizzano E and Buchwald M.
Cystic fibrosis: beyond the gene to therapy.
JOURNAL OF PEDIATRICS . 120(3): 337-349. Number of citations: 47
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Baiget M, Tizzano E, Volpini V, del Rio E, Pérez-Vidal T and Gallano P.
DMD carrier detection in a female with mosaic Turner's syndrome.
JOURNAL OF MEDICAL GENETICS . 28(3): 209-210. Number of citations: 9
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Tizzano E, Lindner G, Chilcott E, Finkel RS and Yáñez-Muñoz RJ.
In utero therapy for spinal muscular atrophy: closer to clinical translation.
BRAIN . : .
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Ji L, Yan J, Losurdo NA, Wang H, Liu L, Li K, Liu Z, Guo Z, Xu J, Bibo A, Ren D, Yang K, Luo Y, Yang F, Wang G, Xiang Z, Wang Y, Zhan H, Pan H, Hu J, Zhong J, Abou Jamra R, Zacher P, Musante L, Faletra F, Costa P, Zanus C, Couque N, Ruaud L, Cueto-González AM, San Nicolas Fernández H, Tizzano E, Martínez Gil N, Liu X, Liao W, Abi Farraj L, Huang AY, Zhang L, Murali A, Schmuel E, Han CS, King K, Gu W, Wang P, Li K, Link N, He G, Bian S and Mao X.
Mutations in spliceosomal gene SNW1 cause neurodevelopment disorders with microcephaly.
JOURNAL OF CLINICAL INVESTIGATION . : .
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Puig-Ram C, Segovia S, Garcia-Uzquiano R, Ñungo Garzón NC, Aragon-Gawinska K, García Romero M, Expósito-Escudero JM, Carrera-García L, López-Lobato M, Paradas C, González Mera L, Álvarez Molinero M, Gómez Andrés D, Toro E, Fernández Ramos JA, Grimalt MA, Toledo Bravo de Laguna L, González Barrios D, Tizzano E, Cattinari MG, Medina J, Calvo Medina R, Munell F, Sotoca J, Martínez-Salcedo E, Moreno Escribano A, Povedano Panadés M, Fernández-García MA, Pitarch-Castellano I, Vázquez-Costa JF, Natera-de Benito D and Nascimento-Osorio A.
Real-world data on spinal muscular atrophy in Spain: Insights from over 500 individuals in the CuidAME project.
Journal of neuromuscular diseases . : .