View publication

 External Resources

 nature.c...-0.pdfhttps://www.nature.com/articles/s41467-024-46354-0.pdf  Article fulltext

 gro-2/142388http://resolver.sub.uni-goettingen.de/purl?gro-2/142388  GRO.publications identifier

 10.6084/m9.figshare.4530893.v6https://doi.org/10.6084/m9.figshare.4530893.v6  Figshare DOI (DOI:10.6084/m9.figshare.4530893.v6, reused)

 0000-0002-5817-6290https://orcid.org/0000-0002-5817-6290  ORCID identifier (Viorica Chelban)

 0000-0003-4968-2324https://orcid.org/0000-0003-4968-2324  ORCID identifier (Henriette Aksnes)

 0000-0001-6763-1542https://orcid.org/0000-0001-6763-1542  ORCID identifier (Reza Maroofian)

 0000-0003-3625-4566https://orcid.org/0000-0003-3625-4566  ORCID identifier (Lauren C. LaMonica)

 0000-0002-4678-3026https://orcid.org/0000-0002-4678-3026  ORCID identifier (Luis Seabra)

 0000-0002-8273-8505https://orcid.org/0000-0002-8273-8505  ORCID identifier (Olivier Quenez)

 0000-0003-1640-4010https://orcid.org/0000-0003-1640-4010  ORCID identifier (Rauan Kaiyrzhanov)

 0000-0003-0132-7921https://orcid.org/0000-0003-0132-7921  ORCID identifier (Vincenzo Salpietro)

 0000-0003-4900-9877https://orcid.org/0000-0003-4900-9877  ORCID identifier (Stephanie Efthymiou)

 0000-0002-9047-0959https://orcid.org/0000-0002-9047-0959  ORCID identifier (Heba Morsy)

 0000-0001-7334-0602https://orcid.org/0000-0001-7334-0602  ORCID identifier (Alistair T. Pagnamenta)

 0000-0002-5312-6526https://orcid.org/0000-0002-5312-6526  ORCID identifier (Liv S. Krogstad)

 0000-0002-2732-4043https://orcid.org/0000-0002-2732-4043  ORCID identifier (Andrés Moreno De Luca)

 0000-0001-8789-5676https://orcid.org/0000-0001-8789-5676  ORCID identifier (Anne Boland-Auge)

 0000-0002-5358-4463https://orcid.org/0000-0002-5358-4463  ORCID identifier (Jean-François Deleuze)

 0000-0002-6719-3447https://orcid.org/0000-0002-6719-3447  ORCID identifier (Barbara Vona)

 0000-0002-0501-479Xhttps://orcid.org/0000-0002-0501-479X  ORCID identifier (Fahad Alajlan)

 0000-0002-5884-9934https://orcid.org/0000-0002-5884-9934  ORCID identifier (Jean-Luc Battini)

 0000-0003-2324-8001https://orcid.org/0000-0003-2324-8001  ORCID identifier (Hanns Lochmüller)

 0000-0003-3438-5028https://orcid.org/0000-0003-3438-5028  ORCID identifier (Sahar I. Da’as)

 0000-0002-3150-1276https://orcid.org/0000-0002-3150-1276  ORCID identifier (Khalid A. Fakhro)

 0000-0003-2348-9083https://orcid.org/0000-0003-2348-9083  ORCID identifier (Alicia Gómez-Pascual)

 0000-0002-6992-598Xhttps://orcid.org/0000-0002-6992-598X  ORCID identifier (Juan A. Botía)

 0000-0002-9500-3348https://orcid.org/0000-0002-9500-3348  ORCID identifier (Nicholas W. Wood)

 0000-0002-9841-170Xhttps://orcid.org/0000-0002-9841-170X  ORCID identifier (Rita Horvath)

 0000-0001-7359-7184https://orcid.org/0000-0001-7359-7184  ORCID identifier (Andreas M. Ernst)

 0000-0001-7211-7564https://orcid.org/0000-0001-7211-7564  ORCID identifier (Yanick J. Crow)

 0000-0003-4158-341Xhttps://orcid.org/0000-0003-4158-341X  ORCID identifier (Fowzan S. Alkuraya)

 0000-0001-9391-7800https://orcid.org/0000-0001-9391-7800  ORCID identifier (Gaël Nicolas)

 0000-0002-3005-147Xhttps://orcid.org/0000-0002-3005-147X  ORCID identifier (Thomas Arnesen)

 0000-0002-2866-7777https://orcid.org/0000-0002-2866-7777  ORCID identifier (Henry Houlden)

 1/421https://mbexc.uni-goettingen.de/archive/1/421  Research Data Archive (supplemental material)

 00mzz1w90https://ror.org/00mzz1w90  ROR identifier (00mzz1w90, Alexandria University)

 00cdrtq48https://ror.org/00cdrtq48  ROR identifier (00cdrtq48, Alfaisal University)

 00sq30w29https://ror.org/00sq30w29  ROR identifier (00sq30w29, Autism & Developmental Medicine Institute)

 03ccx3r49https://ror.org/03ccx3r49  ROR identifier (03ccx3r49, Centogene (Germany))

 0257dtg16https://ror.org/0257dtg16  ROR identifier (0257dtg16, Dicle University)

 00dbd8b73https://ror.org/00dbd8b73  ROR identifier (00dbd8b73, Dokuz Eylül University)

 03eyq4y97https://ror.org/03eyq4y97  ROR identifier (03eyq4y97, Hamad bin Khalifa University)

 03np4e098https://ror.org/03np4e098  ROR identifier (03np4e098, Haukeland University Hospital)

 01502ca60https://ror.org/01502ca60  ROR identifier (01502ca60, Hospices Civils de Lyon)

 014nx0w70https://ror.org/014nx0w70  ROR identifier (014nx0w70, Hospital Universitario Austral)

 04asck240https://ror.org/04asck240  ROR identifier (04asck240, Inonu University)

 02vjkv261https://ror.org/02vjkv261  ROR identifier (02vjkv261, Inserm)

 05n0wgt02https://ror.org/05n0wgt02  ROR identifier (05n0wgt02, King Faisal Specialist Hospital & Research Centre)

 05xy1nn52https://ror.org/05xy1nn52  ROR identifier (05xy1nn52, Multiscale Bioimaging)

 048b34d51https://ror.org/048b34d51  ROR identifier (048b34d51, National Hospital for Neurology and Neurosurgery)

 03xww6m08https://ror.org/03xww6m08  ROR identifier (03xww6m08, Nicolae Testemițanu State University of Medicine and Pharmacy)

 03c62dg59https://ror.org/03c62dg59  ROR identifier (03c62dg59, Ottawa Hospital)

 03acdk243https://ror.org/03acdk243  ROR identifier (03acdk243, Sidra Medical and Research Center)

 025hwk980https://ror.org/025hwk980  ROR identifier (025hwk980, South Kazakhstan Medical Academy)

 039zedc16https://ror.org/039zedc16  ROR identifier (039zedc16, St George’s University Hospitals NHS Foundation Trust)

 03p3aeb86https://ror.org/03p3aeb86  ROR identifier (03p3aeb86, Universidad de Murcia)

 03nhjew95https://ror.org/03nhjew95  ROR identifier (03nhjew95, Université de Rouen Normandie)

 05f82e368https://ror.org/05f82e368  ROR identifier (05f82e368, Université Paris Cité)

 02jx3x895https://ror.org/02jx3x895  ROR identifier (02jx3x895, University College London)

 021ft0n22https://ror.org/021ft0n22  ROR identifier (021ft0n22, University Medical Center Göttingen)

 03zga2b32https://ror.org/03zga2b32  ROR identifier (03zga2b32, University of Bergen)

 0168r3w48https://ror.org/0168r3w48  ROR identifier (0168r3w48, University of California, San Diego)

 013meh722https://ror.org/013meh722  ROR identifier (013meh722, University of Cambridge)

 0245cg223https://ror.org/0245cg223  ROR identifier (0245cg223, University of Freiburg)

 051escj72https://ror.org/051escj72  ROR identifier (051escj72, University of Montpellier)

 03c4mmv16https://ror.org/03c4mmv16  ROR identifier (03c4mmv16, University of Ottawa)

 03xjwb503https://ror.org/03xjwb503  ROR identifier (03xjwb503, University of Paris-Saclay)

 00pg6eq24https://ror.org/00pg6eq24  ROR identifier (00pg6eq24, University of Strasbourg)

 01rjnta51https://ror.org/01rjnta51  ROR identifier (01rjnta51, Wellcome Centre for Human Genetics)

 03v76x132https://ror.org/03v76x132  ROR identifier (03v76x132, Yale University)

 static-c...SM.pdfhttps://static-content.springer.com/esm/art%3A10.1038%2Fs41467-024-46354-0/MediaObjects/41467_2024_46354_MOESM1_ESM.pdf  Supplemental material

 static-c...SM.pdfhttps://static-content.springer.com/esm/art%3A10.1038%2Fs41467-024-46354-0/MediaObjects/41467_2024_46354_MOESM3_ESM.pdf  Supplemental material

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

 static-c...SM.pdfhttps://static-content.springer.com/esm/art%3A10.1038%2Fs41467-024-46354-0/MediaObjects/41467_2024_46354_MOESM2_ESM.pdf  Supplemental material (peer review)

 static-c...SM.pdfhttps://static-content.springer.com/esm/art%3A10.1038%2Fs41467-024-46354-0/MediaObjects/41467_2024_46354_MOESM7_ESM.pdf  Supplemental material (reporting summary)

 static-c...SM.pdfhttps://static-content.springer.com/esm/art%3A10.1038%2Fs41467-024-46354-0/MediaObjects/41467_2024_46354_MOESM8_ESM.pdf  Supplemental material (reporting summary old)

 static-c...M.xlsxhttps://static-content.springer.com/esm/art%3A10.1038%2Fs41467-024-46354-0/MediaObjects/41467_2024_46354_MOESM9_ESM.xlsx  Supplemental material (source data)

 static-c...M.xlsxhttps://static-content.springer.com/esm/art%3A10.1038%2Fs41467-024-46354-0/MediaObjects/41467_2024_46354_MOESM4_ESM.xlsx  Supplemental material (table)

 static-c...SM.mp4https://static-content.springer.com/esm/art%3A10.1038%2Fs41467-024-46354-0/MediaObjects/41467_2024_46354_MOESM5_ESM.mp4  Supplemental material (video)

 static-c...SM.avihttps://static-content.springer.com/esm/art%3A10.1038%2Fs41467-024-46354-0/MediaObjects/41467_2024_46354_MOESM6_ESM.avi  Supplemental material (video)

 mbexc.de...tions/https://mbexc.de/biallelic-naa60-variants-with-impaired-n-terminal-acetylation-capacity-cause-autosomal-recessive-primary-familial-brain-calcifications/  Website entry (mbexc.de)