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Ralitza M Gavrilova

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Ralitza M Gavrilova, MD

20022025

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  • Autosomal dominant HK1-related neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA): An emerging mitochondrial disorder

    Ng, B. G., Eklund, E. A., Rosenfeld, J. A., Elias, A. F., Abu-El-Haija, A., Bris, C., Barth, M., Chae, J. H., Choi, M., Dubbs, H. A., Fratter, C., Foulds, N., Gamble, C., Gavrilova, R. H., Haven, J., Hoffman, T. L., Hunter, J. V., Larson, A., Lotze, T. E. & Magoulas, P. & 28 others, Magness, E. C., Bootin, D. M., Marsh, E. D., Nesbitt, V., Pastore, M. T., Poulton, J., Rahman, S., Scaglia, F., Murali, C., Posey, J., Rotenberg, J., Schmalz, B., Shinde, D. N., Powis, Z., Sukenik-Halevy, R., Truxal, K. V., Uster, T., Machado Bressan Wilke, M. V., Klee, E., Woo, H., Younkin, D., Zhao, J., Granadillo, J., Lalani, S., Chitayat, D., Chung, W. K., Freeze, H. H. & Okur, V., Jan 2025, In: Genetics in Medicine Open. 3, 103425.

    Research output: Contribution to journal › Article › peer-review

    Open Access

  • Clinical Practice Guidelines for the Diagnosis, Management, and Surveillance of LMNB1-Related Autosomal Dominant Leukodystrophy

    Dhamija, R., Tobin, W. O., Cortelli, P., Padiath, Q., Muthusamy, K., Singh Sekhon, U. D., Singh, B. J., Harris, D., Billings, H., Mamillo, K., Appleberry, H., Giorgio, E., Ratti, S., Fogel, B. L., Gavrilova, R., Raininko, R. & Cousin, M. A., 2025, In: Neurology: Genetics. 11, 5

    Research output: Contribution to journal › Review article › peer-review

    Open Access

  • Genetic and Clinical Characterization of a Large Cohort with Suspected Monogenic Stone Disease

    Cogal, A. G., Ali, A. E., Arnous, M. G., Alhadi, A., Zhou, L. T., Arroyo, J., Seide, B. M., Rossler, K. J., Reynolds, L. M., Kennedy, G. N., Elbarougy, D. E., Goldfarb, D. S., Milliner, D. S., Sas, D. J., Lieske, J. C., Harris, P. C., Campagna, J., Talati, J., Matteen, M. & Biyabani, S. R. & 147 others, Jalbani, I., Petras, K., Gole, E., Printza, N., Thomas-Mathew, S., Samm, B., Baker, S., Lorenz, E., Steinberg, P., Beck, A., Puliyanda, D., Devor, K., Shafi, S. T., Pfau, A., Kalinsky, B., Baum, M., Kim, E., Shin, H., Armstrong, L., Jernigan, S., Bock, M., Baum, M., Grewal, M., Alegria-Torres, G., Larosa, C., Cadnapaphornchai, M., Copelovitch, L., Kim, E., George, T., Muff-Luett, M., Couser, S., Benoit, S., Wang, X., Slocombe, K., Sethna, C., Blazius, B., Tran, L., Juran, P., Vuppali, K., Foreman, J., Chapman, E., Sengupta, U., Jackson, R., Eidman, K., Wilson, R., Pearl, R., Siomou, E., Abroug, S., Wasserstein, A., Moe, S., Lingeman, J., Mohtat, D., Lakkis, R., Wierenga, C., Ruebner, R., Neu, A., Akber, A., Salyer, A., Sharma, J., Matossian, D., Lane, J., Verghese, P., Dalal, V., Kohlenberg, J., Boumitri, M., Segal, Y., Tanzer, M., Straatmann, C., Haws, R., Eisner, B., Porter, I., Mao, M., Manohar, S., Chebib, F., Norby, S., Rule, A., Tran, C., Hanna, C., Schwartz, G., Dines, G., Kennel, K., Zand, L., Hogan, M., Tebben, P., Gavrilova, R., Avant, R., Erickson, S., Torres, V., Cheungpasitporn, W., Zhou, X., Keddis, M., Prochnau, C., Kaminski, A., Polcari, A., Almardini, R., Slocum, J., Stricevic, V., Patel, H., Kusumi, K., Ghamrawi, R., Lambert, M., Lasic, L. B., Khatri, M., Kumar, J., Liss, Y., Sinnakirouchenan, R., Krambeck, A., Rims, V., Al-Uzri, A., Turman, M., Sharma, S., Schlesinger, M., Stahl, J., Eison, M., Auron, A., O'Hare, A., Kamath, N., Trivedi, H., Sirota, H., Aigbe, M., Lesses, J., Rhuma, N., Heilberg, I. P., Assimos, D., Harvey, L., Kompotiatis, P., Portale, A., Cheng, C., Winnicki, E., Lee, M., Coe, F., Chamarthi, G., Pinsk, M., Amanzadeh, J., Elfering, S., Mian, A., Monk, R., Pearle, M., Gutierrez, B., James, M., Radhakrishnan, Y., Langone, A., Lewis, J. B., Weiss, A., Gutierrez, J., Bleyer, A. & Bolton, D., Dec 2025, In: Clinical Journal of the American Society of Nephrology. 20, 12, p. 1670-1682 13 p.

    Research output: Contribution to journal › Article › peer-review

  • MBOAT7 encephalopathy: Characterizing the neurology and epileptology

    De la Rosa, S. O., Rizzo, V., Jauss, R. T., Bartolomaeus, T., Escolar, M., Bernard, G., Gavrilova, R., Ahrens-Nicklas, R., Lemire, G., Boycott, K. M., Mercimek-Andrews, S., Prontera, P., Costa, C., Rakic, B., Boerkoel, C. F., Huynh, S., Huh, L., Sherr, E., Argilli, E. & Ortigoza-Escobar, J. D. & 9 others, Casas-Alba, D., Nunes, T., Koolen, D. A., Platzer, K., Khinchi, M. S., Gardella, E., Fenger, C. D., Møller, R. S. & Bayat, A., Jul 2025, In: Epilepsia. 66, 7, p. 2379-2390 12 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access

  • Neuropsychiatric symptoms cluster and fluctuate over time in behavioral variant frontotemporal dementia

    the ALLFTD Consortium, Jun 2025, In: Psychiatry and Clinical Neurosciences. 79, 6, p. 327-335 9 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
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