Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism
2020 · Cell · 2,318 citations
https://doi.org/10.1016/j.cell.2019.12.036
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Patrı́cia Maciel
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Patrı́cia Maciel is an academic researcher from University of Minho. The author has contributed to research in topics: Genetic Neurodegenerative Diseases & Mitochondrial Function and Pathology & Genetics and Neurodevelopmental Disorders. The author has an h-index of 47, co-authored 181 publications.
ORCID: 0000-0002-0920-6350Papers by this author
worksDevelopmental absence of maxillary lateral incisors in the Portuguese population
2005 · European Journal of Orthodontics · 116 citations
https://doi.org/10.1093/ejo/cji060
Serotonergic signalling suppresses ataxin 3 aggregation and neurotoxicity in animal models of Machado-Joseph disease
2015 · Brain · 88 citations
https://doi.org/10.1093/brain/awv262
Redefining the MED13L syndrome
2015 · European Journal of Human Genetics · 80 citations
https://doi.org/10.1038/ejhg.2015.26
Positive allosteric modulation of indoleamine 2,3-dioxygenase 1 restrains neuroinflammation
2020 · Proceedings of the National Academy of Sciences · 80 citations
https://doi.org/10.1073/pnas.1918215117
Towards a Structural Understanding of the Fibrillization Pathway in Machado-Joseph's Disease: Trapping Early Oligomers of Non-expanded Ataxin-3
2005 · Journal of Molecular Biology · 79 citations
https://doi.org/10.1016/j.jmb.2005.08.061
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