| Title: |
Biallelic NAA60 variants with impaired N-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications |
| Authors: |
Chelban, V. (Viorica); Aksnes, H. (Henriette); Maroofian, R. (Reza); LaMonica, Lauren C.; Seabra, L. (Luis); Siggervåg, A. (Anette); Devic, P. (Perrine); Shamseldin, Hanan E.; Vandrovcova, J. (Jana); Murphy, D. (David); Richard, A. (Anne-Claire); Quenez, O. (Olivier); Bonnevalle, A. (Antoine); Zanetti, M. Natalia; Kaiyrzhanov, R. (Rauan); Salpietro, V. (Vincenzo); Efthymiou, S. (Stephanie); Schottlaender, Lucia V.; Morsy, H. (Heba); Scardamaglia, A. (Annarita); Tariq, A. (Ambreen); Pagnamenta, Alistair T.; Pennavaria, A. (Ajia); Krogstad, Liv S.; Bekkelund, Åse K.; Caiella, A. (Alessia); Glomnes, N. (Nina); Brønstad, Kirsten M.; Tury, S. (Sandrine); Moreno De Luca, A. (Andrés); Boland-Auge, A. (Anne); Olaso, R. (Robert); Deleuze, J. (Jean-François); Anheim, M. (Mathieu); Cretin, B. (Benjamin); Vona, B. (Barbara); Alajlan, F. (Fahad); Abdulwahab, F. (Firdous); Battini, J. (Jean-Luc); İpek, R. (Rojan); Bauer, P. (Peter); Zifarelli, G. (Giovanni); Gungor, S. (Serdal); Kurul, S. (Semra Hiz); Lochmuller, H. (Hanns); Da’as, Sahar I.; Fakhro, Khalid A.; Gómez-Pascual, A. (Alicia); Botía, Juan A.; Wood, Nicholas W.; Horvath, R. (Rita); Ernst, Andreas M.; Rothman, James E.; McEntagart, M. (Meriel); Crow, Yanick J.; Alkuraya, Fowzan S.; Nicolas, G. (Gaël); Houlden, H. (Henry); Arnesen, T. (Thomas) |
| Publication Year: |
2024 |
| Subject Terms: |
Sciences du Vivant [q-bio]/Génétique; Sciences du Vivant [q-bio]/Médecine humaine et pathologie |
| Document Type: |
article in journal/newspaper |
| Language: |
English |
| Availability: |
https://www.nature.com/articles/s41467-024-46354-0 |
| Rights: |
Paternité [CC] [BY] ; info:eu-repo/semantics/openAccess |
| Accession Number: |
edsbas.46AE0EB |
| Database: |
BASE |