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Mitochondrial diseases in North America: An analysis of the NAMDC Registry.
Barca E, Long Y, Cooley V, Schoenaker R, Emmanuele V, DiMauro S, Cohen BH, Karaa A, Vladutiu GD, Haas R, Van Hove JLK, Scaglia F, Parikh S, Bedoyan JK, DeBrosse SD, Gavrilova RH, Saneto RP, Enns GM, Stacpoole PW, Ganesh J, Larson A, Zolkipli-Cunningham Z, Falk MJ, Goldstein AC, Tarnopolsky M, Gropman A, Camp K, Krotoski D, Engelstad K, Rosales XQ, Kriger J, Grier J, Buchsbaum R, Thompson JLP, Hirano M. Barca E, et al. Among authors: engelstad k. Neurol Genet. 2020 Mar 2;6(2):e402. doi: 10.1212/NXG.0000000000000402. eCollection 2020 Apr. Neurol Genet. 2020. PMID: 32337332 Free PMC article.
Protean phenotypic features of the A3243G mitochondrial DNA mutation.
Kaufmann P, Engelstad K, Wei Y, Kulikova R, Oskoui M, Battista V, Koenigsberger DY, Pascual JM, Sano M, Hirano M, DiMauro S, Shungu DC, Mao X, De Vivo DC. Kaufmann P, et al. Among authors: engelstad k. Arch Neurol. 2009 Jan;66(1):85-91. doi: 10.1001/archneurol.2008.526. Arch Neurol. 2009. PMID: 19139304 Free PMC article.
Autonomic symptoms in carriers of the m.3243A>G mitochondrial DNA mutation.
Parsons T, Weimer L, Engelstad K, Linker A, Battista V, Wei Y, Hirano M, Dimauro S, De Vivo DC, Kaufmann P. Parsons T, et al. Among authors: engelstad k. Arch Neurol. 2010 Aug;67(8):976-9. doi: 10.1001/archneurol.2010.174. Arch Neurol. 2010. PMID: 20697048 Free PMC article.
Decreased hippocampal expression of calbindin D28K and cognitive impairment in MELAS.
Emmanuele V, Garcia-Cazorla A, Huang HB, Coku J, Dorado B, Cortes EP, Engelstad K, De Vivo DC, Dimauro S, Bonilla E, Tanji K. Emmanuele V, et al. Among authors: engelstad k. J Neurol Sci. 2012 Jun 15;317(1-2):29-34. doi: 10.1016/j.jns.2012.03.005. Epub 2012 Apr 5. J Neurol Sci. 2012. PMID: 22483853 Free PMC article.
94 results