Elena Buglo
Affiliations: | Human Genetics | University of Miami, Coral Gables, FL |
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Parents
Sign in to add mentorJulia E. Dallman | grad student | University of Miami | ||
(Co-mentored with Steohan Zuchner) |
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Publications
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Venincasa MJ, Randlett O, Sumathipala SH, et al. (2021) Elevated preoptic brain activity in zebrafish glial glycine transporter mutants is linked to lethargy-like behaviors and delayed emergence from anesthesia. Scientific Reports. 11: 3148 |
Cortese A, Zhu Y, Rebelo AP, et al. (2020) Author Correction: Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes. Nature Genetics |
Cortese A, Zhu Y, Rebelo AP, et al. (2020) Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes. Nature Genetics |
Buglo E, Sarmiento E, Martuscelli NB, et al. (2020) Genetic compensation in a stable slc25a46 mutant zebrafish: A case for using F0 CRISPR mutagenesis to study phenotypes caused by inherited disease. Plos One. 15: e0230566 |
Farazi Fard MA, Rebelo AP, Buglo E, et al. (2019) Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia. American Journal of Human Genetics |
Abrams AJ, Fontanesi F, Tan NB, et al. (2018) Insights into the genotype-phenotype correlation and molecular function of SLC25A46. Human Mutation |
Bedell V, Buglo E, Marcato D, et al. (2018) Zebrafish: A Pharmacogenetic Model for Anesthesia. Methods in Enzymology. 602: 189-209 |
Kozol RA, Abrams AJ, James DM, et al. (2016) Function Over Form: Modeling Groups of Inherited Neurological Conditions in Zebrafish. Frontiers in Molecular Neuroscience. 9: 55 |
Rebelo AP, Abrams AJ, Cottenie E, et al. (2016) Cryptic Amyloidogenic Elements in the 3' UTRs of Neurofilament Genes Trigger Axonal Neuropathy. American Journal of Human Genetics |