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Kirby, DM, Thorburn, DR. Approaches to Finding the Molecular Basis of Mitochondrial Oxidative Phosphorylation Disorders.
Twin Research and Human Genetics
11(4)
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395 -411
2008
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White, SL, Collins, VR, Wolfe, R, Cleary, MA, Shanske, S, DiMauro, S, Dahl, H-HM, Thorburn, DR. Genetic Counseling and Prenatal Diagnosis for the Mitochondrial DNA Mutations at Nucleotide 8993.
American Journal of Human Genetics
65(2)
:
474 -482
1999
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Dai, N, Zhao, L, Wrighting, D, Krämer, D, Majithia, A, Wang, Y, Cracan, V, Borges-Rivera, D, Mootha, VK, Nahrendorf, M, et al. IGF2BP2/IMP2-Deficient Mice Resist Obesity through Enhanced Translation of Ucp1 mRNA and Other mRNAs Encoding Mitochondrial Proteins.
Cell Metabolism
21(4)
:
609 -621
2015
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Shanske, S, Kirby, D, Bruno, C, Garavaglia, B, Santorelli, FM, Xia, W, Krishna, S, Shield, L, Thorburn, DR, Zeviani, M, et al. Clinical Heterogeneity Associated with the Mitochondrial DNA C3303T Point Mutation ♦ 734.
Pediatric Research
43(Suppl 4)
:
127 -127
1998
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Takakubo, F, Thorburn, DR, Dahl, H-HM. A four-nucleotide insertion hotspot in the X chromosome located pyruvate dehydrogenase E1α gene (PDHA1).
Human Molecular Genetics
2(4)
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473 -474
1993
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