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Elena Buglo - Publications

Affiliations: 
Human Genetics University of Miami, Coral Gables, FL 
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9 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2021 Venincasa MJ, Randlett O, Sumathipala SH, Bindernagel R, Stark MJ, Yan Q, Sloan SA, Buglo E, Meng QC, Engert F, Züchner S, Kelz MB, Syed S, Dallman JE. 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. PMID 33542258 DOI: 10.1038/s41598-021-82342-w  0.608
2020 Cortese A, Zhu Y, Rebelo AP, Negri S, Courel S, Abreu L, Bacon CJ, Bai Y, Bis-Brewer DM, Bugiardini E, Buglo E, Danzi MC, Feely SME, Athanasiou-Fragkouli A, Haridy NA, et al. Author Correction: Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes. Nature Genetics. PMID 32457452 DOI: 10.1038/S41588-020-0649-7  0.615
2020 Cortese A, Zhu Y, Rebelo AP, Negri S, Courel S, Abreu L, Bacon CJ, Bai Y, Bis-Brewer DM, Bugiardini E, Buglo E, Danzi MC, Feely SME, Athanasiou-Fragkouli A, Haridy NA, et al. Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes. Nature Genetics. PMID 32367058 DOI: 10.1038/S41588-020-0615-4  0.642
2020 Buglo E, Sarmiento E, Martuscelli NB, Sant DW, Danzi MC, Abrams AJ, Dallman JE, Züchner S. 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. PMID 32208444 DOI: 10.1371/Journal.Pone.0230566  0.674
2019 Farazi Fard MA, Rebelo AP, Buglo E, Nemati H, Dastsooz H, Gehweiler I, Reich S, Reichbauer J, Quintáns B, Ordóñez-Ugalde A, Cortese A, Courel S, Abreu L, Powell E, Danzi M, et al. Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia. American Journal of Human Genetics. PMID 30929741 DOI: 10.1016/J.Ajhg.2019.03.001  0.372
2018 Abrams AJ, Fontanesi F, Tan NB, Buglo E, Campeanu IJ, Kornberg AJ, Phelan DG, Stark Z, Zuchner S. Insights into the genotype-phenotype correlation and molecular function of SLC25A46. Human Mutation. PMID 30178502 DOI: 10.1002/Humu.23639  0.34
2018 Bedell V, Buglo E, Marcato D, Pylatiuk C, Mikut R, Stegmaier J, Scudder W, Wray M, Züchner S, Strähle U, Peravali R, Dallman JE. Zebrafish: A Pharmacogenetic Model for Anesthesia. Methods in Enzymology. 602: 189-209. PMID 29588029 DOI: 10.1016/Bs.Mie.2018.02.004  0.636
2016 Kozol RA, Abrams AJ, James DM, Buglo E, Yan Q, Dallman JE. Function Over Form: Modeling Groups of Inherited Neurological Conditions in Zebrafish. Frontiers in Molecular Neuroscience. 9: 55. PMID 27458342 DOI: 10.3389/Fnmol.2016.00055  0.584
2016 Rebelo AP, Abrams AJ, Cottenie E, Horga A, Gonzalez M, Bis DM, Sanchez-Mejias A, Pinto M, Buglo E, Markel K, Prince J, Laura M, Houlden H, Blake J, Woodward C, et al. Cryptic Amyloidogenic Elements in the 3' UTRs of Neurofilament Genes Trigger Axonal Neuropathy. American Journal of Human Genetics. PMID 27040688 DOI: 10.1016/J.Ajhg.2016.02.022  0.631
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