Elena Buglo

Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia

Andrea Cortese, Roberto Simone, Roisin Sullivan et al. · Nature Genetics · 2019 · 581 citations · Full text

Life Sciences, Neurology, Neurogenetics +9

Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes

Andrea Cortese, Yi Zhu, Adriana Rebelo et al. · Nature Genetics · 2020 · 177 citations · Full text

Medicine, Genetics, Molecular Genetics +11

Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2

Petra Laššuthová, Adriana Rebelo, Gianina Ravenscroft et al. · The American Journal of Human Genetics · 2018 · 77 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

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 et al. · PLoS ONE · 2020 · 77 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia

Mohammad Ali Farazi Fard, Adriana Rebelo, Elena Buglo et al. · The American Journal of Human Genetics · 2019 · 62 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9