Associated Papers
Investigation of Electrostatic Effects on Enyzme Catalysis: Insights from Computational Simulations of Monoamine Oxidase A Pathological Variants Leading to the Brunner Syndrome.
Rajić M et al.
Journal of Chemical Information and Modeling, 2025
Biogenic Amine Metabolism and Its Genetic Variations in Autism Spectrum Disorder: A Comprehensive Overview.
Tabolacci C et al.
Biomolecules, 2025
Expanding the phenotype of Brunner syndrome from childhood to adulthood: Description of the second pediatric patient and his mother.
Minniti ML et al.
American Journal of Medical Genetics. Part A, 2024
RETRACTED: Pathogenic Variants Associated with Rare Monogenic Diseases Established in Ancient Neanderthal and Denisovan Genome-Wide Data.
Toncheva D et al.
Genes, 2023
Phenotypes and Genotypes of Inherited Disorders of Biogenic Amine Neurotransmitter Metabolism.
Mastrangelo M et al.
Genes, 2023
36833190 (PubMed )
Supplement: genes-14-00263-s001.zip › Table_S1.xlsx › MAOA_Short_VarPathogenetic
Brunner syndrome caused by point mutation explained by multiscale simulation of enzyme reaction.
Prah A et al.
Scientific Reports, 2022
Monoamine oxidase A activity in fibroblasts as a functional confirmation of MAOA variants.
Peters TMA et al.
Jimd Reports, 2021
New insights into Brunner syndrome and potential for targeted therapy.
Palmer EE et al.
Clinical Genetics, 2016
20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition.
Piton A et al.
European Journal of Human Genetics : Ejhg, 2014
XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing.
Piton A et al.
American Journal of Human Genetics, 2013
Mutations in human monoamine-related neurotransmitter pathway genes.
Haavik J et al.
Human Mutation, 2008
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