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)
SCR_012821https://scicrunch.org/resolver/SCR_012821
SciCrunch identifier (RRID:SCR_012821, ANNOVAR)
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)