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Henriette Aksnes
Chelban et al., 2024
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@article{Chelban2024, author = {Chelban, Viorica and Aksnes, Henriette and Maroofian, Reza and LaMonica, Lauren C. and Seabra, Luis and Siggervåg, Anette and Devic, Perrine and Shamseldin, Hanan E. and Vandrovcova, Jana and Murphy, David and Richard, Anne-Claire and Quenez, Olivier and Bonnevalle, Antoine and Natalia Zanetti, M. and Kaiyrzhanov, Rauan and Salpietro, Vincenzo and Efthymiou, Stephanie and Schottlaender, Lucia V. and Morsy, Heba and Scardamaglia, Annarita and Tariq, Ambreen and Pagnamenta, Alistair T. and Pennavaria, Ajia and Krogstad, Liv S. and Bekkelund, Åse K. and Caiella, Alessia and Glomnes, Nina and Brønstad, Kirsten M. and Tury, Sandrine and De Luca, Andrés Moreno and Boland-Auge, Anne and Olaso, Robert and Deleuze, Jean-François and Anheim, Mathieu and Cretin, Benjamin and Vona, Barbara and Alajlan, Fahad and Abdulwahab, Firdous and Battini, Jean-Luc and İpek, Rojan and Bauer, Peter and Zifarelli, Giovanni and Gungor, Serdal and Kurul, Semra Hiz and Lochmuller, Hanns and Da’as, Sahar I. and Fakhro, Khalid A. and Gómez-Pascual, Alicia and Botía, Juan A. and Wood, Nicholas W. and Horvath, Rita and Ernst, Andreas M. and Rothman, James E. and McEntagart, Meriel and Crow, Yanick J. and Alkuraya, Fowzan S. and Nicolas, Gaël and Houlden, Henry and Alkuraya, Fowzan S. and Arnesen, Thomas and Houlden, Henry}, month = {mar}, title = {Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications}, year = {2024} }
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Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications
Journal article published in 2024 by
Viorica Chelban
,
Henriette Aksnes
,
Reza Maroofian
,
Lauren C. LaMonica
,
Luis Seabra
,
Anette Siggervåg
,
Perrine Devic
,
Hanan E. Shamseldin
,
Jana Vandrovcova
,
David Murphy
,
Anne-Claire Richard
,
Olivier Quenez
,
Antoine Bonnevalle
,
M. Natalia Zanetti
,
Rauan Kaiyrzhanov
and
other authors.
Viorica Chelban
,
Henriette Aksnes
,
Reza Maroofian
,
Lauren C. LaMonica
,
Luis Seabra
,
Anette Siggervåg
,
Perrine Devic
,
Hanan E. Shamseldin
,
Jana Vandrovcova
,
David Murphy
,
Anne-Claire Richard
,
Olivier Quenez
,
Antoine Bonnevalle
,
M. Natalia Zanetti
,
Rauan Kaiyrzhanov
,
Vincenzo Salpietro
,
Stephanie Efthymiou
,
Lucia V. Schottlaender
,
Heba Morsy
,
Annarita Scardamaglia
,
Ambreen Tariq
,
Alistair T. Pagnamenta
,
Ajia Pennavaria
,
Liv S. Krogstad
,
Åse K. Bekkelund
,
Alessia Caiella
,
Nina Glomnes
,
Kirsten M. Brønstad
,
Sandrine Tury
,
Andrés Moreno De Luca
,
Anne Boland-Auge
,
Robert Olaso
,
Jean-François Deleuze
,
Mathieu Anheim
,
Benjamin Cretin
,
Barbara Vona
,
Fahad Alajlan
,
Firdous Abdulwahab
,
Jean-Luc Battini
,
Rojan İpek
,
Peter Bauer
,
Giovanni Zifarelli
,
Serdal Gungor
,
Semra Hiz Kurul
,
Hanns Lochmuller
,
Sahar I. Da’as
,
Khalid A. Fakhro
,
Alicia Gómez-Pascual
,
Juan A. Botía
,
Nicholas W. Wood
,
Rita Horvath
,
Andreas M. Ernst
,
James E. Rothman
,
Meriel McEntagart
,
Yanick J. Crow
,
Fowzan S. Alkuraya
,
Gaël Nicolas
,
Henry Houlden
,
Fowzan S. Alkuraya
,
Thomas Arnesen
,
Henry Houlden
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