Ralitza M Gavrilova, MD

  • 831 Citations
  • 12 Scopus h-Index
20022019
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  • 16 Similar Profiles
Mutation Medicine & Life Sciences
Frontotemporal Lobar Degeneration Medicine & Life Sciences
Frontotemporal Dementia Medicine & Life Sciences
Exome Medicine & Life Sciences
Genes Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Alexander Disease Medicine & Life Sciences
Microtubule-Associated Proteins Medicine & Life Sciences

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Research Output 2002 2019

  • 831 Citations
  • 12 Scopus h-Index
  • 52 Article
  • 2 Letter
  • 1 Chapter

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

SYNAPS Study Group, Dec 1 2019, In : Nature communications. 10, 1, 3094.

Research output: Contribution to journalArticle

Open Access
nervous system disorder
disability
genetic analysis
abnormality
gene expression
Open Access
Frontotemporal Lobar Degeneration
Frontotemporal Dementia
Executive Function
Dementia
Clinical Trials

Brain MR Spectroscopy Changes Precede Frontotemporal Lobar Degeneration Phenoconversion in Mapt Mutation Carriers

Chen, Q., Boeve, B. F., Tosakulwong, N., Lesnick, T., Brushaber, D., Dheel, C., Fields, J. A., Forsberg, L., Gavrilova, R. M., Gearhart, D., Haley, D., Gunter, J. L., Graff-Radford, J., Jones, D. T., Knopman, D. S., Graff Radford, N. R., Kraft, R., Lapid, M. I., Rademakers, R. V., Wszolek, Z. K. & 3 others, Rosen, H., Boxer, A. L. & Kantarci, K. M., Jan 1 2019, In : Journal of Neuroimaging.

Research output: Contribution to journalArticle

Frontotemporal Lobar Degeneration
Magnetic Resonance Spectroscopy
Mutation
Brain
Gyrus Cinguli
1 Citation (Scopus)

Clinical spectrum of STX1B -related epileptic disorders

Wolking, S., May, P., Mei, D., Møller, R. S., Balestrini, S., Helbig, K. L., Altuzarra, C. D., Chatron, N., Kaiwar, C., Stöhr, K., Widdess-Walsh, P., Mendelsohn, B. A., Numis, A., Cilio, M. R., Van Paesschen, W., Svendsen, L. L., Oates, S., Hughes, E., Goyal, S., Brown, K. & 31 others, Sifuentes Saenz, M., Dorn, T., Muhle, H., Pagnamenta, A. T., Vavoulis, D. V., Knight, S. J. L., Taylor, J. C., Canevini, M. P., Darra, F., Gavrilova, R. M., Powis, Z., Tang, S., Marquetand, J., Armstrong, M., McHale, D., Klee, E. W., Kluger, G. J., Lowenstein, D. H., Weckhuysen, S., Pal, D. K., Helbig, I., Guerrini, R., Thomas, R. H., Rees, M. I., Lesca, G., Sisodiya, S. M., Weber, Y. G., Lal, D., Marini, C., Lerche, H. & Schubert, J., Mar 12 2019, In : Neurology. 92, 11, p. E1238-E1249

Research output: Contribution to journalArticle

Open Access
Epilepsy
Syntaxin 1
Febrile Seizures
Seizures
Phenotype

Developmental delay, coarse facial features, and epilepsy in a patient with EXT2 gene variants

Gupta, A., Ewing, S. A., Renaud, D. L., Hasadsri, L., Raymond, K. M., Klee, E. W. & Gavrilova, R. M., Apr 1 2019, In : Clinical Case Reports. 7, 4, p. 632-637 6 p.

Research output: Contribution to journalArticle

Open Access
Epilepsy
Megalencephaly
Heparitin Sulfate
Autistic Disorder
Genes