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Publication
PropertyValue
Working Groups RG Wollnik
SubprojectNone
Open AccessOpen Access Yes
Publication TypeJournal Article
Peer ReviewedYes
PMIDPubMed ID 38480682
DOIDOI 10.1038/s41467-024-46354-0
Publication Year2024
TitleBiallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications
JournalNature Communications
ISSN2041-1723
eISSN2041-1723
URL http://dx.doi.org/10.1038/s41467-024-46354-0
Issue1
Volume15
Journal AbbreviationNat Commun
AuthorsChelban V, Aksnes H, Maroofian R, LaMonica LC, Seabra L, Siggervåg A, Devic P, Shamseldin HE, Vandrovcova J, Murphy D, Richard A, Quenez O, Bonnevalle A, Zanetti MN, Kaiyrzhanov R, Salpietro V, Efthymiou S, Schottlaender LV, Morsy H, Scardamaglia A, Tariq A, Pagnamenta AT, Pennavaria A, Krogstad LS, Bekkelund AK, Caiella A, Glomnes N, Brønstad KM, Tury S, Moreno De Luca A, Boland-Auge A, Olaso R, Deleuze J, Anheim M, Cretin B, Vona B, Alajlan F, Abdulwahab F, Battini J, İpek R, Bauer P, Zifarelli G, Gungor S, Kurul SH, Lochmuller H, Da’as SI, Fakhro KA, Gómez-Pascual A, Botía JA, Wood NW, Horvath R, Ernst AM, Rothman JE, McEntagart M, Crow YJ, Alkuraya FS, Nicolas G, SYNaPS Study Group, Arnesen T, Houlden H
First AuthorChelban V
Last AuthorHoulden H

 External Resources

 nature.c...-0.pdf  Article fulltext

 gro-2/142388  GRO.publications identifier

 10.6084/m9.figshare.4530893.v6  Figshare DOI (DOI:10.6084/m9.figshare.4530893.v6, reused)

 0000-0002-5817-6290  ORCID identifier (Viorica Chelban)

 0000-0003-4968-2324  ORCID identifier (Henriette Aksnes)

 0000-0001-6763-1542  ORCID identifier (Reza Maroofian)

 0000-0003-3625-4566  ORCID identifier (Lauren C. LaMonica)

 0000-0002-4678-3026  ORCID identifier (Luis Seabra)

 0000-0002-8273-8505  ORCID identifier (Olivier Quenez)

 0000-0003-1640-4010  ORCID identifier (Rauan Kaiyrzhanov)

 0000-0003-0132-7921  ORCID identifier (Vincenzo Salpietro)

 0000-0003-4900-9877  ORCID identifier (Stephanie Efthymiou)

 0000-0002-9047-0959  ORCID identifier (Heba Morsy)

 0000-0001-7334-0602  ORCID identifier (Alistair T. Pagnamenta)

 0000-0002-5312-6526  ORCID identifier (Liv S. Krogstad)

 0000-0002-2732-4043  ORCID identifier (Andrés Moreno De Luca)

 0000-0001-8789-5676  ORCID identifier (Anne Boland-Auge)

 0000-0002-5358-4463  ORCID identifier (Jean-François Deleuze)

 0000-0002-6719-3447  ORCID identifier (Barbara Vona)

 0000-0002-0501-479X  ORCID identifier (Fahad Alajlan)

 0000-0002-5884-9934  ORCID identifier (Jean-Luc Battini)

 0000-0003-2324-8001  ORCID identifier (Hanns Lochmüller)

 0000-0003-3438-5028  ORCID identifier (Sahar I. Da’as)

 0000-0002-3150-1276  ORCID identifier (Khalid A. Fakhro)

 0000-0003-2348-9083  ORCID identifier (Alicia Gómez-Pascual)

 0000-0002-6992-598X  ORCID identifier (Juan A. Botía)

 0000-0002-9500-3348  ORCID identifier (Nicholas W. Wood)

 0000-0002-9841-170X  ORCID identifier (Rita Horvath)

 0000-0001-7359-7184  ORCID identifier (Andreas M. Ernst)

 0000-0001-7211-7564  ORCID identifier (Yanick J. Crow)

 0000-0003-4158-341X  ORCID identifier (Fowzan S. Alkuraya)

 0000-0001-9391-7800  ORCID identifier (Gaël Nicolas)

 0000-0002-3005-147X  ORCID identifier (Thomas Arnesen)

 0000-0002-2866-7777  ORCID identifier (Henry Houlden)

 1/421  Research Data Archive (supplemental material)

 00mzz1w90  ROR identifier (00mzz1w90, Alexandria University)

 00cdrtq48  ROR identifier (00cdrtq48, Alfaisal University)

 00sq30w29  ROR identifier (00sq30w29, Autism & Developmental Medicine Institute)

 03ccx3r49  ROR identifier (03ccx3r49, Centogene (Germany))

 0257dtg16  ROR identifier (0257dtg16, Dicle University)

 00dbd8b73  ROR identifier (00dbd8b73, Dokuz Eylül University)

 03eyq4y97  ROR identifier (03eyq4y97, Hamad bin Khalifa University)

 03np4e098  ROR identifier (03np4e098, Haukeland University Hospital)

 01502ca60  ROR identifier (01502ca60, Hospices Civils de Lyon)

 014nx0w70  ROR identifier (014nx0w70, Hospital Universitario Austral)

 04asck240  ROR identifier (04asck240, Inonu University)

 02vjkv261  ROR identifier (02vjkv261, Inserm)

 05n0wgt02  ROR identifier (05n0wgt02, King Faisal Specialist Hospital & Research Centre)

 05xy1nn52  ROR identifier (05xy1nn52, Multiscale Bioimaging)

 048b34d51  ROR identifier (048b34d51, National Hospital for Neurology and Neurosurgery)

 03xww6m08  ROR identifier (03xww6m08, Nicolae Testemițanu State University of Medicine and Pharmacy)

 03c62dg59  ROR identifier (03c62dg59, Ottawa Hospital)

 03acdk243  ROR identifier (03acdk243, Sidra Medical and Research Center)

 025hwk980  ROR identifier (025hwk980, South Kazakhstan Medical Academy)

 039zedc16  ROR identifier (039zedc16, St George’s University Hospitals NHS Foundation Trust)

 03p3aeb86  ROR identifier (03p3aeb86, Universidad de Murcia)

 03nhjew95  ROR identifier (03nhjew95, Université de Rouen Normandie)

 05f82e368  ROR identifier (05f82e368, Université Paris Cité)

 02jx3x895  ROR identifier (02jx3x895, University College London)

 021ft0n22  ROR identifier (021ft0n22, University Medical Center Göttingen)

 03zga2b32  ROR identifier (03zga2b32, University of Bergen)

 0168r3w48  ROR identifier (0168r3w48, University of California, San Diego)

 013meh722  ROR identifier (013meh722, University of Cambridge)

 0245cg223  ROR identifier (0245cg223, University of Freiburg)

 051escj72  ROR identifier (051escj72, University of Montpellier)

 03c4mmv16  ROR identifier (03c4mmv16, University of Ottawa)

 03xjwb503  ROR identifier (03xjwb503, University of Paris-Saclay)

 00pg6eq24  ROR identifier (00pg6eq24, University of Strasbourg)

 01rjnta51  ROR identifier (01rjnta51, Wellcome Centre for Human Genetics)

 03v76x132  ROR identifier (03v76x132, Yale University)

 SCR_012821  SciCrunch identifier (RRID:SCR_012821, ANNOVAR)

 static-c...SM.pdf  Supplemental material

 static-c...SM.pdf  Supplemental material

 goeseek.gwdguser.de/studies/158  Supplemental material (goeseek study)

 static-c...SM.pdf  Supplemental material (peer review)

 static-c...SM.pdf  Supplemental material (reporting summary)

 static-c...SM.pdf  Supplemental material (reporting summary old)

 static-c...M.xlsx  Supplemental material (source data)

 static-c...M.xlsx  Supplemental material (table)

 static-c...SM.mp4  Supplemental material (video)

 static-c...SM.avi  Supplemental material (video)

 mbexc.de...tions/  Website entry (mbexc.de)