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SGCE Myoclonus-Dystonia: An Inherited Movement Disorder.
Yoganathan S, Kumar M, Sharma S, Patel S, Danda S, Thomas M. Yoganathan S, et al. Among authors: sharma s. Neurology. 2022 Feb 15;98(7):289. doi: 10.1212/WNL.0000000000013209. Epub 2021 Dec 14. Neurology. 2022. PMID: 34906973 No abstract available.
KCNT1-related epilepsy: An international multicenter cohort of 27 pediatric cases.
Borlot F, Abushama A, Morrison-Levy N, Jain P, Puthenveettil Vinayan K, Abukhalid M, Aldhalaan HM, Almuzaini HS, Gulati S, Hershkovitz T, Konanki R, Lingappa L, Luat AF, Shafi S, Tabarki B, Thomas M, Yoganathan S, Alfadhel M, Arya R, Donner EJ, Ehaideb SN, Gowda VK, Jain V, Madaan P, Myers KA, Otsubo H, Panda P, Sahu JK, Sampaio LPB, Sharma S, Simard-Tremblay E, Zak M, Whitney R. Borlot F, et al. Among authors: sharma s. Epilepsia. 2020 Apr;61(4):679-692. doi: 10.1111/epi.16480. Epub 2020 Mar 13. Epilepsia. 2020. PMID: 32167590 Free article.
A Treatable Cause of Intellectual Disability and Autism in a Young Child.
Yoganathan S, Sharma S, Varman M, Malhotra M, Chandran M, Arunachal G, Thomas M. Yoganathan S, et al. Among authors: sharma s. Indian J Pediatr. 2020 Oct;87(10):850-851. doi: 10.1007/s12098-020-03225-y. Epub 2020 Mar 24. Indian J Pediatr. 2020. PMID: 32207074 No abstract available.
Movement Disorders in Inherited Metabolic Diseases in Children.
Saini AG, Sharma S. Saini AG, et al. Among authors: sharma s. Ann Indian Acad Neurol. 2020 May-Jun;23(3):332-337. doi: 10.4103/aian.AIAN_612_19. Epub 2020 May 9. Ann Indian Acad Neurol. 2020. PMID: 32606521 Free PMC article.
Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities.
Steel D, Zech M, Zhao C, Barwick KES, Burke D, Demailly D, Kumar KR, Zorzi G, Nardocci N, Kaiyrzhanov R, Wagner M, Iuso A, Berutti R, Škorvánek M, Necpál J, Davis R, Wiethoff S, Mankad K, Sudhakar S, Ferrini A, Sharma S, Kamsteeg EJ, Tijssen MA, Verschuuren C, van Egmond ME, Flowers JM, McEntagart M, Tucci A, Coubes P, Bustos BI, Gonzalez-Latapi P, Tisch S, Darveniza P, Gorman KM, Peall KJ, Bötzel K, Koch JC, Kmieć T, Plecko B, Boesch S, Haslinger B, Jech R, Garavaglia B, Wood N, Houlden H, Gissen P, Lubbe SJ, Sue CM, Cif L, Mencacci NE, Anderson G, Kurian MA, Winkelmann J; Genomics England Research Consortium. Steel D, et al. Among authors: sharma s. Ann Neurol. 2020 Nov;88(5):867-877. doi: 10.1002/ana.25879. Epub 2020 Sep 21. Ann Neurol. 2020. PMID: 32808683
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