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Mitochondrial diseases.
Davis RL, Liang C, Sue CM. Davis RL, et al. Handb Clin Neurol. 2018;147:125-141. doi: 10.1016/B978-0-444-63233-3.00010-5. Handb Clin Neurol. 2018. PMID: 29325608 Review.
Rapid and noninvasive screening of patients with mitochondrial myopathy.
Kotsimbos N, Jean-Francois MJ, Huizing M, Kapsa RM, Lertrit P, Siregar NC, Marzuki S, Sue C, Byrne E. Kotsimbos N, et al. Hum Mutat. 1994;4(2):132-5. doi: 10.1002/humu.1380040207. Hum Mutat. 1994. PMID: 7981717
Mitochondrial encephalomyopathy: variable clinical expression within a single kindred.
Crimmins D, Morris JG, Walker GL, Sue CM, Byrne E, Stevens S, Jean-Francis B, Yiannikas C, Pamphlett R. Crimmins D, et al. J Neurol Neurosurg Psychiatry. 1993 Aug;56(8):900-5. doi: 10.1136/jnnp.56.8.900. J Neurol Neurosurg Psychiatry. 1993. PMID: 8350109 Free PMC article.
Pigmentary retinopathy associated with the mitochondrial DNA 3243 point mutation.
Sue CM, Mitchell P, Crimmins DS, Moshegov C, Byrne E, Morris JG. Sue CM, et al. Neurology. 1997 Oct;49(4):1013-7. doi: 10.1212/wnl.49.4.1013. Neurology. 1997. PMID: 9339682
Cochlear origin of hearing loss in MELAS syndrome.
Sue CM, Lipsett LJ, Crimmins DS, Tsang CS, Boyages SC, Presgrave CM, Gibson WP, Byrne E, Morris JG. Sue CM, et al. Ann Neurol. 1998 Mar;43(3):350-9. doi: 10.1002/ana.410430313. Ann Neurol. 1998. PMID: 9506552 Review.
The polymerase chain reaction in the study of mitochondrial genetics.
Kapsa R, Siregar N, Quigley A, Ojaimi J, Katsabanis S, Sue C, Byrne E. Kapsa R, et al. J Biochem Biophys Methods. 1997 Dec 17;36(1):31-50. doi: 10.1016/s0165-022x(97)00044-4. J Biochem Biophys Methods. 1997. PMID: 9507371
Detection of MELAS A3243G point mutation in muscle, blood and hair follicles.
Sue CM, Quigley A, Katsabanis S, Kapsa R, Crimmins DS, Byrne E, Morris JG. Sue CM, et al. J Neurol Sci. 1998 Nov 26;161(1):36-9. doi: 10.1016/s0022-510x(98)00179-8. J Neurol Sci. 1998. PMID: 9879679
Neonatal presentations of mitochondrial metabolic disorders.
Sue CM, Hirano M, DiMauro S, De Vivo DC. Sue CM, et al. Semin Perinatol. 1999 Apr;23(2):113-24. doi: 10.1016/s0146-0005(99)80045-7. Semin Perinatol. 1999. PMID: 10331464 Review.
Exercise intolerance due to a nonsense mutation in the mtDNA ND4 gene.
Andreu AL, Tanji K, Bruno C, Hadjigeorgiou GM, Sue CM, Jay C, Ohnishi T, Shanske S, Bonilla E, DiMauro S. Andreu AL, et al. Ann Neurol. 1999 Jun;45(6):820-3. doi: 10.1002/1531-8249(199906)45:6<820::aid-ana22>;2-w. Ann Neurol. 1999. PMID: 10360780
Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA(Ser(UCN)) gene.
Sue CM, Tanji K, Hadjigeorgiou G, Andreu AL, Nishino I, Krishna S, Bruno C, Hirano M, Shanske S, Bonilla E, Fischel-Ghodsian N, DiMauro S, Friedman R. Sue CM, et al. Neurology. 1999 Jun 10;52(9):1905-8. doi: 10.1212/wnl.52.9.1905. Neurology. 1999. PMID: 10371545
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