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Page 1
Measurement of ATP production in mitochondrial disorders.
Shepherd RK, Checcarelli N, Naini A, De Vivo DC, DiMauro S, Sue CM. Shepherd RK, et al. Among authors: sue cm. J Inherit Metab Dis. 2006 Feb;29(1):86-91. doi: 10.1007/s10545-006-0148-8. J Inherit Metab Dis. 2006. PMID: 16601873
Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia.
Menezes MJ, Guo Y, Zhang J, Riley LG, Cooper ST, Thorburn DR, Li J, Dong D, Li Z, Glessner J, Davis RL, Sue CM, Alexander SI, Arbuckle S, Kirwan P, Keating BJ, Xu X, Hakonarson H, Christodoulou J. Menezes MJ, et al. Among authors: sue cm. Hum Mol Genet. 2015 Apr 15;24(8):2297-307. doi: 10.1093/hmg/ddu747. Epub 2015 Jan 2. Hum Mol Genet. 2015. PMID: 25556185
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: sue cm. 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.
EPG5-Related Vici Syndrome: A Primary Defect of Autophagic Regulation with an Emerging Phenotype Overlapping with Mitochondrial Disorders.
Balasubramaniam S, Riley LG, Vasudevan A, Cowley MJ, Gayevskiy V, Sue CM, Edwards C, Edkins E, Junckerstorff R, Kiraly-Borri C, Rowe P, Christodoulou J. Balasubramaniam S, et al. Among authors: sue cm. JIMD Rep. 2018;42:19-29. doi: 10.1007/8904_2017_71. Epub 2017 Nov 21. JIMD Rep. 2018. PMID: 29159459 Free PMC article.
Movement disorders in mitochondrial disease.
Ghaoui R, Sue CM. Ghaoui R, et al. Among authors: sue cm. J Neurol. 2018 May;265(5):1230-1240. doi: 10.1007/s00415-017-8722-6. Epub 2018 Jan 6. J Neurol. 2018. PMID: 29307008 Review.
Mitochondrial diseases.
Davis RL, Liang C, Sue CM. Davis RL, et al. Among authors: sue cm. Handb Clin Neurol. 2018;147:125-141. doi: 10.1016/B978-0-444-63233-3.00010-5. Handb Clin Neurol. 2018. PMID: 29325608 Review.
213 results