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Publications

  • 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

    [doi:10.3390/genes12050738]

  • 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: 11

    [doi:10.1016/j.arbres.2020.02.010]

  • Santirocco M, Plaja A, Rodó C, Valenzuela I, Arévalo S, Castells N, Abuli A, Tizzano E, Maiz N and Carreras E.

    Chromosomal microarray analysis in fetuses with central nervous system anomalies: An 8-year long observational study from a tertiary care university hospital.

    PRENATAL DIAGNOSIS . 41(1): 123-135. Number of citations: 14

    [doi:10.1002/pd.5829]

  • Aranda-Reneo I, Peña-Longobardo LM, Oliva-Moreno J, Litzkendorf S, Durand-Zaleski I, Tizzano E and López-Bastida J.

    The Burden of Spinal Muscular Atrophy on Informal Caregivers.

    INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH . 17(23): . Number of citations: 19

    [doi:10.3390/ijerph17238989]

  • Tiziano FD and Tizzano E.

    25 years of the SMN genes: the Copernican revolution of spinal muscular atrophy.

    Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology . 39(4): 336-344.

    [doi:10.36185/2532-1900-037]

  • Cuscó I, Bernal S, Blasco-Pérez L, Calucho M, Alias L, Fuentes-Prior P and Tizzano E.

    Practical guidelines to manage discordant situations of SMN2 copy number in patients with spinal muscular atrophy.

    NEUROLOGY-GENETICS . 6(6): . Number of citations: 43

    [doi:10.1212/NXG.0000000000000530]

  • Valenzuela I, Codina M, Fernández-Álvarez P, Mur P, Valle L, Tizzano E and Cuscó I.

    Expanding the phenotype of cerebellar-facial-dental syndrome: Two siblings with a novel variant in BRF1.

    AMERICAN JOURNAL OF MEDICAL GENETICS PART A . 182(11): 2742-2745. Number of citations: 6

    [doi:10.1002/ajmg.a.61839]

  • Kirschner J, Butoianu N, Goemans N, Haberlova J, Kostera-Pruszczyk A, Mercuri E, van der Pol WL, Quijano-Roy S, Sejersen T, Tizzano E, Ziegler A, Servais L and Muntoni F.

    European ad-hoc consensus statement on gene replacement therapy for spinal muscular atrophy.

    EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 28: 38-43. Number of citations: 78

    [doi:10.1016/j.ejpn.2020.07.001]

  • Matalonga L, Laurie S, Papakonstantinou A, Piscia D, Mereu E, Bullich G, Thompson R, Horvath R, Pérez-Jurado L, Riess O, Gut I, van Ommen GJ, Lochmüller H, Beltran S and RD–Connect Genome-Phenome Analysis Platform and URD-Cat Data Contributors.

    Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity.

    JOURNAL OF MOLECULAR DIAGNOSTICS . 22(9): 1205-1215. Number of citations: 16

    [doi:10.1016/j.jmoldx.2020.06.008]

  • Peña-Longobardo LM, Aranda-Reneo I, Oliva-Moreno J, Litzkendorf S, Durand-Zaleski I, Tizzano E and López-Bastida J.

    The Economic Impact and Health-Related Quality of Life of Spinal Muscular Atrophy. An Analysis across Europe.

    INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH . 17(16): . Number of citations: 26

    [doi:10.3390/ijerph17165640]