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Congenital myasthenic syndrome caused by a frameshift insertion mutation in GFPT1.
Szelinger S, Krate J, Ramsey K, Strom SP, Shieh PB, Lee H, Belnap N, Balak C, Siniard AL, Russell M, Richholt R, Both M, Claasen AM, Schrauwen I, Nelson SF, Huentelman MJ, Craig DW, Yang SP, Moore SA, Sivakumar K, Narayanan V, Rangasamy S; UCLA Clinical Genomics Center. Szelinger S, et al. Among authors: sivakumar k. Neurol Genet. 2020 Jun 30;6(4):e468. doi: 10.1212/NXG.0000000000000468. eCollection 2020 Aug. Neurol Genet. 2020. PMID: 32754643 Free PMC article.
Amifampridine phosphate (Firdapse(®)) is effective and safe in a phase 3 clinical trial in LEMS.
Oh SJ, Shcherbakova N, Kostera-Pruszczyk A, Alsharabati M, Dimachkie M, Blanco JM, Brannagan T, Lavrnić D, Shieh PB, Vial C, Meisel A, Komoly S, Schoser B, Sivakumar K, So Y; LEMS Study Group. Oh SJ, et al. Among authors: sivakumar k. Muscle Nerve. 2016 May;53(5):717-25. doi: 10.1002/mus.25070. Epub 2016 Mar 3. Muscle Nerve. 2016. PMID: 26852139 Clinical Trial.
Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations.
Sivakumar K, Kyriakides T, Puls I, Nicholson GA, Funalot B, Antonellis A, Sambuughin N, Christodoulou K, Beggs JL, Zamba-Papanicolaou E, Ionasescu V, Dalakas MC, Green ED, Fischbeck KH, Goldfarb LG. Sivakumar K, et al. Brain. 2005 Oct;128(Pt 10):2304-14. doi: 10.1093/brain/awh590. Epub 2005 Jul 13. Brain. 2005. PMID: 16014653
Meningioma with pneumosinus dilatans.
Mai A, Karis J, Sivakumar K. Mai A, et al. Among authors: sivakumar k. Neurology. 2003 Jun 10;60(11):1861. doi: 10.1212/01.wnl.0000064170.08465.3b. Neurology. 2003. PMID: 12796553 No abstract available.
Childhood-onset spastic paraplegia with NIPAL gene mutation.
Bien-Willner R, Sambuughin N, Holley H, Bodensteiner J, Sivakumar K. Bien-Willner R, et al. Among authors: sivakumar k. J Child Neurol. 2006 Nov;21(11):974-7. doi: 10.1177/08830738060210111501. J Child Neurol. 2006. PMID: 17092466
Long-term safety and efficacy of cipaglucosidase alfa plus miglustat in individuals living with Pompe disease: an open-label phase I/II study (ATB200-02).
Byrne BJ, Schoser B, Kishnani PS, Bratkovic D, Clemens PR, Goker-Alpan O, Ming X, Roberts M, Vorgerd M, Sivakumar K, van der Ploeg AT, Goldman M, Wright J, Holdbrook F, Jain V, Benjamin ER, Johnson F, Das SS, Wasfi Y, Mozaffar T. Byrne BJ, et al. Among authors: sivakumar k. J Neurol. 2024 Apr;271(4):1787-1801. doi: 10.1007/s00415-023-12096-0. Epub 2023 Dec 6. J Neurol. 2024. PMID: 38057636 Free PMC article. Clinical Trial.
Safety and efficacy of intravenous bimagrumab in inclusion body myositis (RESILIENT): a randomised, double-blind, placebo-controlled phase 2b trial.
Hanna MG, Badrising UA, Benveniste O, Lloyd TE, Needham M, Chinoy H, Aoki M, Machado PM, Liang C, Reardon KA, de Visser M, Ascherman DP, Barohn RJ, Dimachkie MM, Miller JAL, Kissel JT, Oskarsson B, Joyce NC, Van den Bergh P, Baets J, De Bleecker JL, Karam C, David WS, Mirabella M, Nations SP, Jung HH, Pegoraro E, Maggi L, Rodolico C, Filosto M, Shaibani AI, Sivakumar K, Goyal NA, Mori-Yoshimura M, Yamashita S, Suzuki N, Katsuno M, Murata K, Nodera H, Nishino I, Romano CD, Williams VSL, Vissing J, Auberson LZ, Wu M, de Vera A, Papanicolaou DA, Amato AA; RESILIENT Study Group. Hanna MG, et al. Among authors: sivakumar k. Lancet Neurol. 2019 Sep;18(9):834-844. doi: 10.1016/S1474-4422(19)30200-5. Lancet Neurol. 2019. PMID: 31397289 Clinical Trial.
448 results