Associated Papers
Neuroimaging to Genetics: Unraveling the Etiology of Cerebral Palsy in Children From Southern Brazil.
Do Valle DA et al.
Journal of Child Neurology, 2026
40534433 (PubMed )
Supplement: sj-pdf-1-jcn-10.1177_08830738251346918.pdf
Cardiological Manifestations in Males and Females Affected by NAA10 -Related Disease.
Bottillo I et al.
American Journal of Medical Genetics. Part A, 2025
Expanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome.
Lyon GJ et al.
European Journal of Human Genetics : Ejhg, 2023
37130971 (PubMed )
Supplement: 41431_2023_1368_MOESM1_ESM.pdf
Biochemical analysis of novel NAA10 variants suggests distinct pathogenic mechanisms involving impaired protein N-terminal acetylation.
McTiernan N et al.
Human Genetics, 2022
Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.
Elliott AM et al.
Hgg Advances, 2022
NAA10 p.(N101K) disrupts N-terminal acetyltransferase complex NatA and is associated with developmental delay and hemihypertrophy.
McTiernan N et al.
European Journal of Human Genetics : Ejhg, 2021
NAA10 p.(D10G) and NAA10 p.(L11R) Variants Hamper Formation of the NatA N-Terminal Acetyltransferase Complex.
McTiernan N et al.
International Journal of Molecular Sciences, 2020
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