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Diagnosis of 'possible' mitochondrial disease: an existential crisis.
Parikh S, Karaa A, Goldstein A, Bertini ES, Chinnery PF, Christodoulou J, Cohen BH, Davis RL, Falk MJ, Fratter C, Horvath R, Koenig MK, Mancuso M, McCormack S, McCormick EM, McFarland R, Nesbitt V, Schiff M, Steele H, Stockler S, Sue C, Tarnopolsky M, Thorburn DR, Vockley J, Rahman S. Parikh S, et al. Among authors: mccormack s. J Med Genet. 2019 Mar;56(3):123-130. doi: 10.1136/jmedgenet-2018-105800. Epub 2019 Jan 25. J Med Genet. 2019. PMID: 30683676 Review.
Primary respiratory chain disease causes tissue-specific dysregulation of the global transcriptome and nutrient-sensing signaling network.
Zhang Z, Tsukikawa M, Peng M, Polyak E, Nakamaru-Ogiso E, Ostrovsky J, McCormack S, Place E, Clarke C, Reiner G, McCormick E, Rappaport E, Haas R, Baur JA, Falk MJ. Zhang Z, et al. Among authors: mccormack s. PLoS One. 2013 Jul 24;8(7):e69282. doi: 10.1371/journal.pone.0069282. Print 2013. PLoS One. 2013. PMID: 23894440 Free PMC article.
The circadian gene Rev-erbα improves cellular bioenergetics and provides preconditioning for protection against oxidative stress.
Sengupta S, Yang G, O'Donnell JC, Hinson MD, McCormack SE, Falk MJ, La P, Robinson MB, Williams ML, Yohannes MT, Polyak E, Nakamaru-Ogiso E, Dennery PA. Sengupta S, et al. Among authors: mccormack se. Free Radic Biol Med. 2016 Apr;93:177-89. doi: 10.1016/j.freeradbiomed.2016.02.004. Epub 2016 Feb 5. Free Radic Biol Med. 2016. PMID: 26855417 Free PMC article.
Muscle oxidative phosphorylation quantitation using creatine chemical exchange saturation transfer (CrCEST) MRI in mitochondrial disorders.
DeBrosse C, Nanga RPR, Wilson N, D'Aquilla K, Elliott M, Hariharan H, Yan F, Wade K, Nguyen S, Worsley D, Parris-Skeete C, McCormick E, Xiao R, Cunningham ZZ, Fishbein L, Nathanson KL, Lynch DR, Stallings VA, Yudkoff M, Falk MJ, Reddy R, McCormack SE. DeBrosse C, et al. Among authors: mccormack se. JCI Insight. 2016 Nov 3;1(18):e88207. doi: 10.1172/jci.insight.88207. JCI Insight. 2016. PMID: 27812541 Free PMC article.
Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project.
Karaa A, Rahman S, Lombès A, Yu-Wai-Man P, Sheikh MK, Alai-Hansen S, Cohen BH, Dimmock D, Emrick L, Falk MJ, McCormack S, Mirsky D, Moore T, Parikh S, Shoffner J, Taivassalo T, Tarnopolsky M, Tein I, Odenkirchen JC, Goldstein A; Mito Working Group Member Participants:. Karaa A, et al. Among authors: mccormack s. J Inherit Metab Dis. 2017 May;40(3):403-414. doi: 10.1007/s10545-017-0035-5. Epub 2017 Mar 16. J Inherit Metab Dis. 2017. PMID: 28303425 Free PMC article.
Hospitalizations for mitochondrial disease across the lifespan in the U.S.
McCormack SE, Xiao R, Kilbaugh TJ, Karlsson M, Ganetzky RD, Cunningham ZZ, Goldstein A, Falk MJ, Damrauer SM. McCormack SE, et al. Mol Genet Metab. 2017 Jun;121(2):119-126. doi: 10.1016/j.ymgme.2017.04.007. Epub 2017 Apr 19. Mol Genet Metab. 2017. PMID: 28442181 Free PMC article.
Risk factors for poor bone health in primary mitochondrial disease.
Gandhi SS, Muraresku C, McCormick EM, Falk MJ, McCormack SE. Gandhi SS, et al. Among authors: mccormack se. J Inherit Metab Dis. 2017 Sep;40(5):673-683. doi: 10.1007/s10545-017-0046-2. Epub 2017 Apr 27. J Inherit Metab Dis. 2017. PMID: 28451918 Free PMC article.
Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.
Parikh S, Goldstein A, Karaa A, Koenig MK, Anselm I, Brunel-Guitton C, Christodoulou J, Cohen BH, Dimmock D, Enns GM, Falk MJ, Feigenbaum A, Frye RE, Ganesh J, Griesemer D, Haas R, Horvath R, Korson M, Kruer MC, Mancuso M, McCormack S, Raboisson MJ, Reimschisel T, Salvarinova R, Saneto RP, Scaglia F, Shoffner J, Stacpoole PW, Sue CM, Tarnopolsky M, Van Karnebeek C, Wolfe LA, Cunningham ZZ, Rahman S, Chinnery PF. Parikh S, et al. Among authors: mccormack s. Genet Med. 2017 Dec;19(12):10.1038/gim.2017.107. doi: 10.1038/gim.2017.107. Epub 2017 Jul 27. Genet Med. 2017. PMID: 28749475 Free PMC article. Review.
513 results