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Kirby, DM, Boneh, A, Chow, CW, Ohtake, A, Ryan, MT, Thyagarajan, D, Thorburn, DR. Low mutant load of mitochondrial DNA G13513A mutation can cause Leigh's disease.
Annals of Neurology
54(4)
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473 -478
2003
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Pagliarini, DJ, Calvo, SE, Chang, B, Sheth, SA, Vafai, SB, Ong, S-E, Walford, GA, Sugiana, C, Boneh, A, Chen, WK, et al. A Mitochondrial Protein Compendium Elucidates Complex I Disease Biology.
Cell
134(1)
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2008
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Lim, SC, Friemel, M, Marum, JE, Tucker, EJ, Bruno, DL, Riley, LG, Christodoulou, J, Kirk, EP, Boneh, A, DeGennaro, CM, et al. Mutations in LYRM4, encoding iron–sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes.
Human Molecular Genetics
22(22)
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4460 -4473
2013
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Kirby, DM, Salemi, R, Sugiana, C, Ohtake, A, Parry, L, Bell, KM, Kirk, EP, Boneh, A, Taylor, RW, Dahl, H-HM, et al. NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency.
Journal of Clinical Investigation
114(6)
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837 -845
2004
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van Dongen, S, Brown, RM, Brown, GK, Thorburn, DR, Boneh, A. Thiamine-Responsive and Non-responsive Patients with PDHC-E1 Deficiency: A Retrospective Assessment.
15:
13 -27
2014
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