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Biliana Veleva Rotse
Biliana Veleva Rotse
Amicus Therapeutics
Verified email at amicusrx.com
Title
Cited by
Cited by
Year
Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice
SJ Garnai, ML Brinkmeier, B Emery, TS Aleman, LC Pyle, B Veleva-Rotse, ...
PLoS genetics 15 (5), e1008130, 2019
522019
STRAD pseudokinases regulate axogenesis and LKB1 stability
BO Veleva-Rotse, JL Smart, AF Baas, B Edmonds, Z Zhao, A Brown, ...
Neural Development 9, 1-13, 2014
262014
Expression of myeloid differentiation factor 88 in neurons is not requisite for the induction of sickness behavior by interleukin-1β
TP Braun, AJ Grossberg, BO Veleva-Rotse, JE Maxson, M Szumowski, ...
Journal of neuroinflammation 9, 1-13, 2012
252012
Brain patterning perturbations following PTEN loss
BO Veleva-Rotse, AP Barnes
Frontiers in Molecular Neuroscience 7, 35, 2014
202014
Genomic Ascertainment Cohort, Camper SA, Richards JE, Prasov L. Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and …
SJ Garnai, ML Brinkmeier, B Emery, TS Aleman, LC Pyle, B Veleva-Rotse, ...
PLoS Genet 15, e1008130, 2019
52019
Therapeutic Role of Pharmacological Chaperones in Lysosomal Storage Disorders: A Review of the Evidence and Informed Approach to Reclassification
I Keyzor, S Shohet, J Castelli, S Sitaraman, B Veleva-Rotse, JM Weimer, ...
Biomolecules 13 (8), 1227, 2023
12023
Prevalence of migalastat-amenable mutations in patients with Fabry disease from Brazil, Argentina and Colombia
J Politei, AM Zarante, MH de Sa Pereira, V Lengoc, AA Loures-Vale, ...
Molecular Genetics and Metabolism 141 (2), 108001, 2024
2024
Cardiac biomarkers in Fabry disease
P Nandi, R Ellis, BO Veleva-Rotse, J Hiros, P Howard
Molecular Genetics and Metabolism 141 (2), 107980, 2024
2024
Multiorgan involvement in females with Fabry disease: Results from two phase III trials and the followME registry
P Nordbeck, DA Hughes, A Nowak, RJ Hopkin, BO Veleva-Rotse, ...
Molecular Genetics and Metabolism 141 (2), 107985, 2024
2024
Clinical characteristics of female patients enrolled in the FollowME Fabry Pathfinders registry
A Jovanovic, P Nordbeck, A Pisani, A Nowak, U Feldt-Rasmussen, ...
Molecular Genetics and Metabolism 138 (2), 107173, 2023
2023
High prevalence of cardiac findings in individuals with Fabry disease identified via no-charge sponsored testing programs
BO Veleva-Rotse, JD Giuliano, KL McPherson, AT Willcock, ...
Molecular Genetics and Metabolism 138 (2), 107346, 2023
2023
Long-term multisystemic efficacy with migalastat in ERT-naive and ERT-experienced patients with amenable GLA variants
RJ Hopkin, DG Bichet, G Sunder-Plassmann, K Nicholls, I Olivotto, ...
Molecular Genetics and Metabolism 135 (2), S56, 2022
2022
Variants in myelin regulatory factor (MYRF) cause autosomal dominant nanophthalmos.
L Prasov, SJ Garnai, M Brinkmeier, B Emery, TS Aleman, LC Pyle, ...
Investigative Ophthalmology & Visual Science 60 (9), 5420-5420, 2019
2019
Strad Pseudokinases are Critical in Embroyonic Brain Development and in Regulating LKB1 Stability: A Dissertation
BO Veleva-Rotse
Oregon Health & Science University, 2015
2015
Strad pseudokinases are critical in embroyonic brain development and in regulating LKB1 stability
BO Veleva-Rotse
2015
Expression of myeloid differentiation factor 88 in neurons is not requisite for the induction of sickness behavior by interleukin-1β
DL Marks, AP Barnes, M Szumowski, JE Maxson, BO Veleva-Rotse, ...
2012
Sei registrato?
D Bratkovic, M Tchan, K Nicholls, R Hopkin, G Sunder-Plassmann, ...
Age 30, 61.2, 0
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