Works matching IS 03645134 AND DT 2019 AND VI 86 AND IP 3


Results: 22
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    Issue Information.

    Published in:
    Annals of Neurology, 2019, v. 86, n. 3, p. i, doi. 10.1002/ana.25445
    Publication type:
    Article
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    SSBP1 mutations in dominant optic atrophy with variable retinal degeneration.

    Published in:
    2019
    By:
    • Jurkute, Neringa;
    • Leu, Costin;
    • Pogoda, Hans‐Martin;
    • Arno, Gavin;
    • Robson, Anthony G.;
    • Nürnberg, Gudrun;
    • Altmüller, Janine;
    • Thiele, Holger;
    • Motameny, Susanne;
    • Toliat, Mohammad Reza;
    • Powell, Kate;
    • Höhne, Wolfgang;
    • Michaelides, Michel;
    • Webster, Andrew R.;
    • Moore, Anthony T.;
    • Hammerschmidt, Matthias;
    • Nürnberg, Peter;
    • Yu‐Wai‐Man, Patrick;
    • Votruba, Marcela;
    • Pogoda, Hans-Martin
    Publication type:
    journal article
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    Severe brain involvement in 5q spinal muscular atrophy type 0.

    Published in:
    2019
    By:
    • Mendonça, Rodrigo H.;
    • Rocha, Antônio J.;
    • Lozano‐Arango, Andres;
    • Diaz, Astry B.;
    • Castiglioni, Claudia;
    • Silva, André M. S.;
    • Reed, Umbertina C.;
    • Kulikowski, Leslie;
    • Paramonov, Ida;
    • Cuscó, Ivon;
    • Tizzano, Eduardo F.;
    • Zanoteli, Edmar;
    • Lozano-Arango, Andres
    Publication type:
    journal article
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    Nusinersen in type 1 spinal muscular atrophy: Twelve-month real-world data.

    Published in:
    2019
    By:
    • Pane, Marika;
    • Coratti, Giorgia;
    • Sansone, Valeria A.;
    • Messina, Sonia;
    • Bruno, Claudio;
    • Catteruccia, Michela;
    • Sframeli, Maria;
    • Albamonte, Emilio;
    • Pedemonte, Marina;
    • D'Amico, Adele;
    • Bravetti, Chiara;
    • Berti, Beatrice;
    • Brigati, Giorgia;
    • Tacchetti, Paola;
    • Salmin, Francesca;
    • de Sanctis, Roberto;
    • Lucibello, Simona;
    • Piastra, Marco;
    • Genovese, Orazio;
    • Bertini, Enrico
    Publication type:
    journal article
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    Intellectual and developmental disabilities research centers: Fifty years of scientific accomplishments.

    Published in:
    2019
    By:
    • Walkley, Steven U.;
    • Abbeduto, Leonard;
    • Batshaw, Mark L.;
    • Bhattacharyya, Anita;
    • Bookheimer, Susan Y.;
    • Christian, Bradley T.;
    • Constantino, John N.;
    • de Vellis, Jean;
    • Doherty, Daniel A.;
    • Nelson, David L.;
    • Piven, Joseph;
    • Poduri, Annapurna;
    • Pomeroy, Scott L.;
    • Samaco, Rodney C.;
    • Zoghbi, Huda Y.;
    • Guralnick, Michael J.;
    • Bookheimer, Susan;
    • Chang, Qiang;
    • Colombo, John;
    • Gallo, Vittorio
    Publication type:
    journal article
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