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Autism and developmental disability caused by KCNQ3 gain-of-function variants.
Sands TT, Miceli F, Lesca G, Beck AE, Sadleir LG, Arrington DK, Schönewolf-Greulich B, Moutton S, Lauritano A, Nappi P, Soldovieri MV, Scheffer IE, Mefford HC, Stong N, Heinzen EL, Goldstein DB, Perez AG, Kossoff EH, Stocco A, Sullivan JA, Shashi V, Gerard B, Francannet C, Bisgaard AM, Tümer Z, Willems M, Rivier F, Vitobello A, Thakkar K, Rajan DS, Barkovich AJ, Weckhuysen S, Cooper EC, Taglialatela M, Cilio MR. Sands TT, et al. Among authors: thakkar k. Ann Neurol. 2019 Aug;86(2):181-192. doi: 10.1002/ana.25522. Epub 2019 Jun 26. Ann Neurol. 2019. PMID: 31177578 Free article.
New Cluster of Acute Flaccid Myelitis in Western Pennsylvania.
Cramer N, Munjal N, Ware D, Ramgopal S, Simon D, Freeman MC, Michaels MG, Stem C, Thakkar K, Williams JV, Panigrahy A, Neville DNW, Owusu-Ansah S. Cramer N, et al. Among authors: thakkar k. Ann Emerg Med. 2019 Oct;74(4):503-508. doi: 10.1016/j.annemergmed.2019.01.024. Epub 2019 Feb 27. Ann Emerg Med. 2019. PMID: 30826069
Acute flaccid myelitis: cause, diagnosis, and management.
Murphy OC, Messacar K, Benson L, Bove R, Carpenter JL, Crawford T, Dean J, DeBiasi R, Desai J, Elrick MJ, Farias-Moeller R, Gombolay GY, Greenberg B, Harmelink M, Hong S, Hopkins SE, Oleszek J, Otten C, Sadowsky CL, Schreiner TL, Thakur KT, Van Haren K, Carballo CM, Chong PF, Fall A, Gowda VK, Helfferich J, Kira R, Lim M, Lopez EL, Wells EM, Yeh EA, Pardo CA; AFM working group. Murphy OC, et al. Lancet. 2021 Jan 23;397(10271):334-346. doi: 10.1016/S0140-6736(20)32723-9. Epub 2020 Dec 23. Lancet. 2021. PMID: 33357469 Free PMC article. Review.
Natural history of Sanfilippo syndrome type A.
Buhrman D, Thakkar K, Poe M, Escolar ML. Buhrman D, et al. Among authors: thakkar k. J Inherit Metab Dis. 2014 May;37(3):431-7. doi: 10.1007/s10545-013-9661-8. Epub 2013 Nov 23. J Inherit Metab Dis. 2014. PMID: 24271936
262 results