Found: 2

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  • The ND1 gene of complex I is a mutational hot spot for Leber's hereditary optic neuropathy.

    Published in:
    Annals of Neurology, 2004, v. 56, n. 5, p. 631
    By:
    • Maria Lucia Valentino;
    • Piero Barboni;
    • Anna Ghelli;
    • Laura Bucchi;
    • Chiara Rengo;
    • Alessandro Achilli;
    • Antonio Torroni;
    • Alessandra Lugaresi;
    • Raffaele Lodi;
    • Bruno Barbiroli;
    • MariaTeresa Dotti;
    • Antonio Federico;
    • Agostino Baruzzi;
    • Valerio Carelli
    Publication type:
    Article

  • A clinically complex form of dominant optic atrophy (OPA8) maps on chromosome 16.

    Published in:
    Human Molecular Genetics, 2011, v. 20, n. 10, p. 1893, doi. 10.1093/hmg/ddr071
    By:
    • Carelli, Valerio;
    • Schimpf, Simone;
    • Fuhrmann, Nico;
    • Valentino, Maria Lucia;
    • Zanna, Claudia;
    • Iommarini, Luisa;
    • Papke, Monika;
    • Schaich, Simone;
    • Tippmann, Sabine;
    • Baumann, Britta;
    • Barboni, Piero;
    • Longanesi, Lora;
    • Rugolo, Michela;
    • Ghelli, Anna;
    • Alavi, Marcel V.;
    • Youle, Richard J.;
    • Bucchi, Laura;
    • Carroccia, Rosanna;
    • Giannoccaro, Maria Pia;
    • Tonon, Caterina
    Publication type:
    Article