Publications by authors named "Elena Buglo"

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Autoimmune Reaction Associated With Long COVID Syndrome and Cardiovascular Disease: A Genetic Case Report.
Anita Safronenka, Jose M C Capcha, Keith A Webster, Elena Buglo, Leonardo Tamariz

JACC Case Rep· January 2023

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Erratum to: A CADM3 variant causes Charcot-Marie-Tooth disease with marked upper limb involvement.
Adriana P Rebelo, Andrea Cortese, Amit Abraham, Yael Eshed-Eisenbach, Gal Shner, Elena Buglo

Brain· August 2021

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A CADM3 variant causes Charcot-Marie-Tooth disease with marked upper limb involvement.
Adriana P Rebelo, Andrea Cortese, Amit Abraham, Yael Eshed-Eisenbach, Gal Shner, Elena Buglo

Brain· May 2021

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Elevated preoptic brain activity in zebrafish glial glycine transporter mutants is linked to lethargy-like behaviors and delayed emergence from anesthesia.
Michael J Venincasa, Owen Randlett, Sureni H Sumathipala, Richard Bindernagel, Matthew J Stark, Elena Buglo

Sci Rep· February 2021

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Genetic compensation in a stable slc25a46 mutant zebrafish: A case for using F0 CRISPR mutagenesis to study phenotypes caused by inherited disease.
Elena Buglo, Evan Sarmiento, Nicole Belliard Martuscelli, David W Sant, Matt C Danzi

PLoS One· June 2020

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Author Correction: Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes.
Andrea Cortese, Yi Zhu, Adriana P Rebelo, Sara Negri, Steve Courel, Elena Buglo

Nat Genet· June 2020

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Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes.
Andrea Cortese, Yi Zhu, Adriana P Rebelo, Sara Negri, Steve Courel, Elena Buglo

Nat Genet· May 2020

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Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.
Mohammad Ali Farazi Fard, Adriana P Rebelo, Elena Buglo, Hamid Nemati, Hassan Dastsooz

Am J Hum Genet· June 2019

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Author Correction: Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia.
Andrea Cortese, Roberto Simone, Roisin Sullivan, Jana Vandrovcova, Huma Tariq, Elena Buglo

Nat Genet· May 2019

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Zebrafish: A Pharmacogenetic Model for Anesthesia.
Victoria Bedell, Elena Buglo, Daniel Marcato, Christian Pylatiuk, Ralf Mikut

Methods Enzymol· April 2019

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Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia.
Andrea Cortese, Roberto Simone, Roisin Sullivan, Jana Vandrovcova, Huma Tariq, Elena Buglo

Nat Genet· April 2019

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Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.
Mohammad Ali Farazi Fard, Adriana P Rebelo, Elena Buglo, Hamid Nemati, Hassan Dastsooz

Am J Hum Genet· April 2019

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Insights into the genotype-phenotype correlation and molecular function of SLC25A46.
Alexander J Abrams, Flavia Fontanesi, Natalie B L Tan, Elena Buglo, Ion J Campeanu

Hum Mutat· December 2018

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Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2.
Petra Lassuthova, Adriana P Rebelo, Gianina Ravenscroft, Phillipa J Lamont, Mark R Davis, Elena Buglo

Am J Hum Genet· March 2018

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Identification of cellular targets of a series of boron heterocycles using TIPA II-A sensitive target identification platform.
Matthew S Ward, Isba Silva, Walfre Martinez, Jameka Jefferson, Shakila Rahman, Elena Buglo

Bioorg Med Chem· August 2016

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Function Over Form: Modeling Groups of Inherited Neurological Conditions in Zebrafish.
Robert A Kozol, Alexander J Abrams, David M James, Elena Buglo, Qing Yan

Front Mol Neurosci· July 2016

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Cryptic Amyloidogenic Elements in the 3' UTRs of Neurofilament Genes Trigger Axonal Neuropathy.
Adriana P Rebelo, Alexander J Abrams, Ellen Cottenie, Alejandro Horga, Michael Gonzalez, Elena Buglo

Am J Hum Genet· April 2016

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Synthesis, characterization, and antibacterial activity of structurally complex 2-acylated 2,3,1-benzodiazaborines and related compounds.
Divya Kanichar, Lance Roppiyakuda, Ewa Kosmowska, Michelle A Faust, Kim P Tran, Elena Buglo

Chem Biodivers· September 2014

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