Research output per year
Research output per year
Research output
- 8 Article
Search results
-
2023
Phenotypic, molecular, and functional characterization of COQ7-related primary CoQ10 deficiency: Hypomorphic variants and two distinct disease entities
Wongkittichote, P., Duque Lasio, M. L., Magistrati, M., Pathak, S., Sample, B., Carvalho, D. R., Ortega, A. B., Castro, M. A. A., de Gusmao, C. M., Toler, T. L., Bellacchio, E., Dallabona, C. & Shinawi, M., Aug 2023, In: Molecular genetics and metabolism. 139, 4, 107630.Research output: Contribution to journal › Article › peer-review
1 Scopus citations -
2021
Epilepsy and related challenges in children with COL4A1 and COL4A2 mutations: A Gould syndrome patient registry
Boyce, D., McGee, S., Shank, L., Pathak, S. & Gould, D., Dec 2021, In: Epilepsy and Behavior. 125, 108365.Research output: Contribution to journal › Article › peer-review
5 Scopus citations -
2020
Epilepsy and Electroencephalographic Abnormalities in SATB2-Associated Syndrome
Lewis, H., Samanta, D., Örsell, J. L., Bosanko, K. A., Rowell, A., Jones, M., Dale, R. C., Taravath, S., Hahn, C. D., Krishnakumar, D., Chagnon, S., Keller, S., Hagebeuk, E., Pathak, S., Bebin, E. M., Arndt, D. H., Alexander, J. J., Mainali, G., Coppola, G., Maclean, J., & 13 others, Nov 2020, In: Pediatric Neurology. 112, p. 94-100 7 p.Research output: Contribution to journal › Article › peer-review
9 Scopus citations -
Randomized Clinical Trial of First-Line Genome Sequencing in Pediatric White Matter Disorders
Vanderver, A., Bernard, G., Helman, G., Sherbini, O., Boeck, R., Cohn, J., Collins, A., Demarest, S., Dobbins, K., Emrick, L., Fraser, J. L., Masser-Frye, D., Hayward, J., Karmarkar, S., Keller, S., Mirrop, S., Mitchell, W., Pathak, S., Sherr, E., van Haren, K., & 10 others, Aug 1 2020, In: Annals of neurology. 88, 2, p. 264-273 10 p.Research output: Contribution to journal › Article › peer-review
15 Scopus citations -
2018
Mutations in the PH Domain of DNM1 are associated with a nonepileptic phenotype characterized by developmental delay and neurobehavioral abnormalities
Brereton, E., Fassi, E., Araujo, G. C., Dodd, J., Telegrafi, A., Pathak, S. J. & Shinawi, M., Mar 2018, In: Molecular Genetics and Genomic Medicine. 6, 2, p. 294-300 7 p.Research output: Contribution to journal › Article › peer-review
Open Access16 Scopus citations -
2016
Neurologic and neuroimaging manifestations of Cantú syndrome
Guerrero, C. R. L., Pathak, S., Grange, D. K., Singh, G. K., Nichols, C. G., Lee, J. M. & Vo, K. D., Jul 19 2016, In: Neurology. 87, 3, p. 270-276 7 p.Research output: Contribution to journal › Article › peer-review
35 Scopus citations -
2014
Fatal human herpesvirus 6-associated encephalitis in two boys with underlying POLG mitochondrial disorders
Al-Zubeidi, D., Thangarajh, M., Pathak, S., Cai, C., Schlaggar, B. L., Storch, G. A., Grange, D. K. & Watson, M. E., Sep 2014, In: Pediatric Neurology. 51, 3, p. 448-452 5 p.Research output: Contribution to journal › Article › peer-review
14 Scopus citations -
Nocturnal variant of benign myoclonic epilepsy of infancy: A case series
Prabhu, A. M., Pathak, S., Khurana, D., Legido, A., Carvalho, K. & Valencia, I., Mar 2014, In: Epileptic Disorders. 16, 1, p. 45-49 5 p.Research output: Contribution to journal › Article › peer-review
1 Scopus citations