Research output per year
Research output per year
- 11 results
Search results
-
2023
Case report: Off-label use of low-dose perampanel in a 25-month-old girl with a pathogenic SYNGAP1 variant
Gupta, S., Hwang, Y., Ludwig, N., Henry, J. & Kadam, S. D., 2023, In: Frontiers in Neurology. 14, 1221161.Research output: Contribution to journal › Article › peer-review
Open Access -
Dendrimer nanotherapy targeting of glial dysfunction improves inflammation and neurobehavioral phenotype in adult female Mecp2-heterozygous mouse model of Rett syndrome
Khoury, E. S., Patel, R. V., O'Ferrall, C., Fowler, A., Sah, N., Sharma, A., Gupta, S., Scafidi, S., Kurtz, J. S., Olmstead, S. J., Kudchadkar, S. R., Kannan, R. M., Blue, M. E. & Kannan, S., 2023, (Accepted/In press) In: Journal of Neurochemistry.Research output: Contribution to journal › Article › peer-review
Open Access -
2022
Interictal Discharges: All Roads Lead to Rome?
Gupta, S. & Kadam, S. D., Jul 2022, In: Epilepsy Currents. 22, 4, p. 252-254 3 p.Research output: Contribution to journal › Article › peer-review
Open Access -
2020
Rare homozygous nonsense variant in AIMP1 causing Early Onset Epileptic Encephalopathy with Burst Suppression (EOEE-BS)
Gupta, S., Schwab, M., Valdez-Gonzalez, K. & Segal, E., Sep 2020, In: European Journal of Medical Genetics. 63, 9, 103970.Research output: Contribution to journal › Article › peer-review
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Stroke in COVID-19: A single-centre initial experience in a hotspot of the pandemic
Bach, I., Surathi, P., Montealegre, N., Abu-Hadid, O., Rubenstein, S., Redko, S., Gupta, S., Hillen, M., Patel, P., Khandelwal, P. & Kamel, A., Dec 1 2020, In: Stroke and Vascular Neurology. 5, 4, p. 331-336 6 p.Research output: Contribution to journal › Article › peer-review
Open Access -
2017
Evaluation of QTc in Rett syndrome: Correlation with age, severity, and genotype
Crosson, J., Srivastava, S., Bibat, G. M., Gupta, S., Kantipuly, A., Smith-Hicks, C., Myers, S. M., Sanyal, A., Yenokyan, G., Brenner, J. & Naidu, S. R., Jun 2017, In: American Journal of Medical Genetics, Part A. 173, 6, p. 1495-1501 7 p.Research output: Contribution to journal › Article › peer-review
Open Access8 Scopus citations -
Randomized open-label trial of dextromethorphan in Rett syndrome
Smith-Hicks, C. L., Gupta, S., Ewen, J. B., Hong, M., Kratz, L., Kelley, R., Tierney, E., Vaurio, R., Bibat, G., Sanyal, A., Yenokyan, G., Brereton, N., Johnston, M. V. & Naidu, S., Oct 17 2017, In: Neurology. 89, 16, p. 1684-1690 7 p.Research output: Contribution to journal › Article › peer-review
Open Access16 Scopus citations -
2016
BRAT1 mutations present with a spectrum of clinical severity
Srivastava, S., Olson, H. E., Cohen, J. S., Gubbels, C. S., Lincoln, S., Davis, B. T., Shahmirzadi, L., Gupta, S., Picker, J., Yu, T. W., Miller, D. T., Soul, J. S., Poretti, A. & Naidu, S. B., Sep 1 2016, In: American Journal of Medical Genetics, Part A. 170, 9, p. 2265-2273 9 p.Research output: Contribution to journal › Article › peer-review
17 Scopus citations -
Loss-of-function variants in HIVEP2 are a cause of intellectual disability
Srivastava, S., Engels, H., Schanze, I., Cremer, K., Wieland, T., Menzel, M., Schubach, M., Biskup, S., Krei, M., Endele, S., Strom, T. M., Wieczorek, D., Zenker, M., Gupta, S., Cohen, J., Zink, A. M. & Naidu, S. B., Apr 1 2016, In: European Journal of Human Genetics. 24, 4, p. 556-561 6 p.Research output: Contribution to journal › Article › peer-review
Open Access19 Scopus citations -
2015
Heightened delta power during slow-wave- sleep in patients with rett syndrome associated with poor sleep efficiency
Ammanuel, S., Chan, W. C., Adler, D. A., Lakshamanan, B. M., Gupta, S. S., Ewen, J. B., Johnston, M. V., Marcus, C. L., Naidu, S. & Kadam, S. D., Oct 7 2015, In: PloS one. 10, 10, e0138113.Research output: Contribution to journal › Article › peer-review
Open Access12 Scopus citations -
2014
De novo KCNB1 mutations in epileptic encephalopathy
Torkamani, A., Bersell, K., Jorge, B. S., Bjork, R. L., Friedman, J. R., Bloss, C. S., Cohen, J., Gupta, S., Naidu, S., Vanoye, C. G., George, A. L. & Kearney, J. A., Oct 1 2014, In: Annals of neurology. 76, 4, p. 529-540 12 p.Research output: Contribution to journal › Article › peer-review
Open Access73 Scopus citations