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Assembly of mitochondrial complex I and defects in disease.
Lazarou M, Thorburn DR, Ryan MT, McKenzie M. Lazarou M, et al. Among authors: thorburn dr. Biochim Biophys Acta. 2009 Jan;1793(1):78-88. doi: 10.1016/j.bbamcr.2008.04.015. Epub 2008 May 4. Biochim Biophys Acta. 2009. PMID: 18501715 Review.
13C and 31P NMR studies of the pentose phosphate pathway in human erythrocytes.
Kuchel PW, Berthon HA, Bubb WA, McIntyre LM, Nygh NK, Thorburn DR. Kuchel PW, et al. Among authors: thorburn dr. Biomed Biochim Acta. 1990;49(2-3):S105-10. Biomed Biochim Acta. 1990. PMID: 2167075
An amino acid substitution in the pyruvate dehydrogenase E1 alpha gene, affecting mitochondrial import of the precursor protein.
Takakubo F, Cartwright P, Hoogenraad N, Thorburn DR, Collins F, Lithgow T, Dahl HH. Takakubo F, et al. Among authors: thorburn dr. Am J Hum Genet. 1995 Oct;57(4):772-80. Am J Hum Genet. 1995. PMID: 7573035 Free PMC article.
A topoisomerase II cleavage site is associated with a novel mitochondrial DNA deletion.
Blok RB, Thorburn DR, Thompson GN, Dahl HH. Blok RB, et al. Among authors: thorburn dr. Hum Genet. 1995 Jan;95(1):75-81. doi: 10.1007/BF00225079. Hum Genet. 1995. PMID: 7814031
A novel mtDNA deletion in an infant with Pearson syndrome.
Kapsa R, Thompson GN, Thorburn DR, Dahl HH, Marzuki S, Byrne E, Blok RB. Kapsa R, et al. Among authors: thorburn dr. J Inherit Metab Dis. 1994;17(5):521-6. doi: 10.1007/BF00711584. J Inherit Metab Dis. 1994. PMID: 7837757
mtDNA deletion in a patient with symptoms of mitochondrial cytopathy but without ragged red fibers.
Blok RB, Thorburn DR, Danks DM, Dahl HH. Blok RB, et al. Among authors: thorburn dr. Biochem Mol Med. 1995 Oct;56(1):26-30. doi: 10.1006/bmme.1995.1052. Biochem Mol Med. 1995. PMID: 8593534
Mitochondrial myopathy with tRNA(Leu(UUR)) mutation and complex I deficiency responsive to riboflavin.
Ogle RF, Christodoulou J, Fagan E, Blok RB, Kirby DM, Seller KL, Dahl HH, Thorburn DR. Ogle RF, et al. Among authors: thorburn dr. J Pediatr. 1997 Jan;130(1):138-45. doi: 10.1016/s0022-3476(97)70323-8. J Pediatr. 1997. PMID: 9003864
Skewed segregation of the mtDNA nt 8993 (T-->G) mutation in human oocytes.
Blok RB, Gook DA, Thorburn DR, Dahl HH. Blok RB, et al. Among authors: thorburn dr. Am J Hum Genet. 1997 Jun;60(6):1495-501. doi: 10.1086/515453. Am J Hum Genet. 1997. PMID: 9199572 Free PMC article.
Serine protease inhibition and mitochondrial dysfunction associated with cisplatin resistance in human tumor cell lines: targets for therapy.
Dong Y, Berners-Price SJ, Thorburn DR, Antalis T, Dickinson J, Hurst T, Qiu L, Khoo SK, Parsons PG. Dong Y, et al. Among authors: thorburn dr. Biochem Pharmacol. 1997 Jun 1;53(11):1673-82. doi: 10.1016/s0006-2952(97)00015-4. Biochem Pharmacol. 1997. PMID: 9264320
A False-Positive Diagnosis for the Common MELAS (A3243G) Mutation Caused by a Novel Variant (A3426G) in the ND1 Gene of Mitochondria DNA.
Kirby DM, Milovac T, Thorburn DR. Kirby DM, et al. Among authors: thorburn dr. Mol Diagn. 1998 Dec;3(4):211-215. doi: 10.154/MODI00300211. Mol Diagn. 1998. PMID: 10089279
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