Dieses Ergebnis aus Springer Nature Journals kann Gästen nicht angezeigt werden. Login für vollen Zugriff.

Biallelic NAA60 variants with impaired N-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications

Title:	Biallelic NAA60 variants with impaired N-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications
Authors:	Chelban, Viorica^{Aff1, Aff2, IDs41467024463540_cor1}; Aksnes, Henriette^{Aff3, IDs41467024463540_cor2}; Maroofian, Reza^Aff1; LaMonica, Lauren C.^Aff4; Seabra, Luis^Aff5; Siggervåg, Anette^Aff3; Devic, Perrine^Aff6; Shamseldin, Hanan E.^Aff7; Vandrovcova, Jana^Aff1; Murphy, David^Aff8; Richard, Anne-Claire^Aff9; Quenez, Olivier^Aff9; Bonnevalle, Antoine^Aff9; Zanetti, M. Natalia^Aff10; Kaiyrzhanov, Rauan^{Aff1, Aff11}; Salpietro, Vincenzo^Aff1; Efthymiou, Stephanie^Aff1; Schottlaender, Lucia V.^{Aff1, Aff12, Aff13}; Morsy, Heba^{Aff1, Aff14}; Scardamaglia, Annarita^Aff1; Tariq, Ambreen^Aff1; Pagnamenta, Alistair T.^Aff15; Pennavaria, Ajia^Aff3; Krogstad, Liv S.^Aff3; Bekkelund, Åse K.^Aff3; Caiella, Alessia^Aff3; Glomnes, Nina^{Aff3, Aff16}; Brønstad, Kirsten M.^Aff3; Tury, Sandrine^Aff17; Moreno De Luca, Andrés^{Aff18, Aff19}; Boland-Auge, Anne^Aff20; Olaso, Robert^Aff20; Deleuze, Jean-François^Aff20; Anheim, Mathieu^{Aff21, Aff22, Aff23}; Cretin, Benjamin^{Aff21, Aff22, Aff23}; Vona, Barbara^{Aff24, Aff25}; Alajlan, Fahad^Aff26; Abdulwahab, Firdous^Aff7; Battini, Jean-Luc^Aff17; İpek, Rojan^Aff27; Bauer, Peter^Aff28; Zifarelli, Giovanni^Aff28; Gungor, Serdal^Aff29; Kurul, Semra Hiz^Aff30; Lochmuller, Hanns^{Aff31, Aff32, Aff33}; Da’as, Sahar I.^{Aff34, Aff35}; Fakhro, Khalid A.^{Aff34, Aff35, Aff36}; Gómez-Pascual, Alicia^Aff37; Botía, Juan A.^Aff37; Wood, Nicholas W.^{Aff8, Aff38}; Horvath, Rita^Aff39; Ernst, Andreas M.^{Aff4, Aff40}; Rothman, James E.^{Aff4, Aff10}; McEntagart, Meriel^Aff41; Crow, Yanick J.^{Aff5, Aff42}; Alkuraya, Fowzan S.^{Aff7, Aff43}; Nicolas, Gaël^Aff9; Arnesen, Thomas^{Aff3, Aff44, IDs41467024463540_cor59}; Houlden, Henry^{Aff1, Aff38, IDs41467024463540_cor60}; Houlden, Henry^Aff1; Alkuraya, Fowzan S.^Aff45
Source:	Nature Communications. 15(1)
Database:	Springer Nature Journals