Biallelic <i> </i><i>NAA60</i> variants with impaired N-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications

Biallelic <i> </i><i>NAA60</i> variants with impaired N-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications

<p dir="ltr">Primary familial brain calcification (PFBC) is characterized by calcium deposition in the brain, causing progressive movement disorders, psychiatric symptoms, and cognitive decline. PFBC is a heterogeneous disorder currently linked to variants in six different genes, but...

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محفوظ في:
التفاصيل البيبلوغرافية
المؤلف الرئيسي: Viorica Chelban (4569337) (author)
مؤلفون آخرون: Henriette Aksnes (205652) (author), Reza Maroofian (5237852) (author), Lauren C. LaMonica (19342717) (author), Luis Seabra (19342720) (author), Anette Siggervåg (19342723) (author), Perrine Devic (17843042) (author), Hanan E. Shamseldin (8987366) (author), Jana Vandrovcova (90909) (author), David Murphy (483511) (author), Anne-Claire Richard (3873238) (author), Olivier Quenez (3282843) (author), Antoine Bonnevalle (19342726) (author), M. Natalia Zanetti (19342729) (author), Rauan Kaiyrzhanov (11494177) (author), Vincenzo Salpietro (4569352) (author), Stephanie Efthymiou (4569349) (author), Lucia V. Schottlaender (19342732) (author), Heba Morsy (3485405) (author), Annarita Scardamaglia (16423404) (author), Ambreen Tariq (19342735) (author), Alistair T. Pagnamenta (6380606) (author), Ajia Pennavaria (19342738) (author), Liv S. Krogstad (19342741) (author), Åse K. Bekkelund (19342744) (author), Alessia Caiella (19342747) (author), Nina Glomnes (205655) (author), Kirsten M. Brønstad (19342750) (author), Sandrine Tury (5812580) (author), Andrés Moreno De Luca (19342753) (author), Anne Boland-Auge (8536302) (author), Robert Olaso (82489) (author), Jean-François Deleuze (3626111) (author), Mathieu Anheim (241061) (author), Benjamin Cretin (303294) (author), Barbara Vona (5237843) (author), Fahad Alajlan (18078073) (author), Firdous Abdulwahab (3485432) (author), Jean-Luc Battini (19342756) (author), Rojan İpek (19342759) (author), Peter Bauer (524851) (author), Giovanni Zifarelli (17487201) (author), Serdal Gungor (13015697) (author), Semra Hiz Kurul (19342762) (author), Hanns Lochmuller (5280071) (author), Sahar I. Da’as (9631717) (author), Khalid A. Fakhro (3158862) (author), Alicia Gómez-Pascual (15250291) (author), Juan A. Botía (7947932) (author), Nicholas W. Wood (49276) (author), Rita Horvath (4474222) (author), Andreas M. Ernst (19342765) (author), James E. Rothman (369943) (author), Meriel McEntagart (2636713) (author), Yanick J. Crow (9433775) (author), Fowzan S. Alkuraya (8791703) (author), Gaël Nicolas (3873235) (author), SYNaPS Study Group (19342768) (author), Henry Houlden (110428) (author), Thomas Arnesen (109198) (author)
منشور في: 2024
الموضوعات:
Biological sciences
Genetics
Biomedical and clinical sciences
Neurosciences
Acetylation
Disease genetics
Mechanisms of disease
Movement disorders
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