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Clinical, biochemical and molecular characteristics of malonyl-CoA decarboxylase deficiency and long-term follow-up of nine patients.
Chapel-Crespo C, Gavrilov D, Sowa M, Myers J, Day-Salvatore DL, Lynn H, Regier D, Starin D, Steenari M, Schoonderwoerd K, Abdenur JE. Chapel-Crespo C, et al. Among authors: steenari m. Mol Genet Metab. 2019 Sep-Oct;128(1-2):113-121. doi: 10.1016/j.ymgme.2019.07.015. Epub 2019 Jul 29. Mol Genet Metab. 2019. PMID: 31395333 Free article. No abstract available.
A Multicenter Training and Interrater Reliability Study of the BASED Score for Infantile Epileptic Spasms Syndrome.
Mytinger JR, Albert DVF, Aylward SC, Beatty CW, Bhalla S, Bhatia S, Brock GN, Ciliberto MA, Choudhari PR, Clark DJ, Cohen JM, Czech TM, Fredwall MM, Gonzalez-Giraldo E, Harini C, Hunter SE, Sandoval Karamian AG, Katyayan A, Kistler I, Kulkarni N, Liu VB, McCabe C, Murray T, Neville K, Patel SH, Pavuluri S, Phillips DJ, Samanta D, Sirsi D, Spelbrink EM, Stafstrom CE, Steenari M, Takacs DS, Terrill T, Tran L, Vidaurre J, Shrey DW. Mytinger JR, et al. Among authors: steenari m. J Clin Neurophysiol. 2024 Jul 11. doi: 10.1097/WNP.0000000000001101. Online ahead of print. J Clin Neurophysiol. 2024. PMID: 38995949
Leukoencephalopathy with Brain stem and Spinal cord involvement and Lactate elevation (LBSL): Report of a new family and a novel DARS2 mutation.
Huang WL, Steenari MR, Barrick R, Simon MT, Chang R, Eftekharian SS, Stover A, Schwartz PH, Latini A, Abdenur JE. Huang WL, et al. Among authors: steenari mr. Mol Genet Metab Rep. 2023 Dec 2;38:101025. doi: 10.1016/j.ymgmr.2023.101025. eCollection 2024 Mar. Mol Genet Metab Rep. 2023. PMID: 38125072 Free PMC article.
14 results