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  1. 1
    Mutations of C19orf12, coding for a transmembrane glycine zipper containing mitochondrial protein, cause mis-localization of the protein, inability to respond to oxidative stress and increased mitochondrial Ca2+.

    Mutations of C19orf12, coding for a transmembrane glycine zipper containing mitochondrial protein, cause mis-localization of the protein, inability to respond to oxidative stress a... by Paola eVenco, Massimo eBonora, Carlotta eGiorgi, Elena ePapaleo, Arcangela eIuso, Arcangela eIuso, Holger eProkisch, Holger eProkisch, Paolo ePinton, Valeria eTiranti

    Published 2015-05-01
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  2. 2
    Clinical, biochemical, and genetic spectrum of seven new patients with NFU1 deficiency

    Clinical, biochemical, and genetic spectrum of seven new patients with NFU1 deficiency by Uwe eAhting, Johannes A Mayr, Arnaud V Vanlander, Steven A Hardy, Saikat eSantra, Christine eMakowski, Charlotte L Alston, Franz A Zimmermann, Lucia eAbela, Barbara ePlecko, Marianne eRohrbach, Stephanie eSpranger, Sara eSeneka, Boris eRolinski, Angela eHagendorff, Maja eHempel, Wolfgang eSperl, Thomas eMeitinger, Thomas eMeitinger, Joél eSmet, Robert W Taylor, Rudy eVan Coster, Peter eFreisinger, Holger eProkisch, Holger eProkisch, Tobias Bernd Haack, Tobias Bernd Haack

    Published 2015-04-01
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