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190 results
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Mitochondrial respiratory chain supercomplexes are destabilized in Barth Syndrome patients.
McKenzie M, Lazarou M, Thorburn DR, Ryan MT. McKenzie M, et al. Among authors: thorburn dr. J Mol Biol. 2006 Aug 18;361(3):462-9. doi: 10.1016/j.jmb.2006.06.057. Epub 2006 Jul 5. J Mol Biol. 2006. PMID: 16857210
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
A four-nucleotide insertion hotspot in the X chromosome located pyruvate dehydrogenase E1 alpha gene (PDHA1).
Takakubo F, Thorburn DR, Dahl HH. Takakubo F, et al. Among authors: thorburn dr. Hum Mol Genet. 1993 Apr;2(4):473-4. doi: 10.1093/hmg/2.4.473. Hum Mol Genet. 1993. PMID: 8504309 No abstract available.
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 electron transport chain defect presenting as hypoglycemia.
Freckmann ML, Thorburn DR, Kirby DM, Kamath KR, Hammond J, Dennett X, Christodoulou J. Freckmann ML, et al. Among authors: thorburn dr. J Pediatr. 1997 Mar;130(3):431-6. doi: 10.1016/s0022-3476(97)70206-3. J Pediatr. 1997. PMID: 9063420
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
Respiratory chain complex I deficiency: an underdiagnosed energy generation disorder.
Kirby DM, Crawford M, Cleary MA, Dahl HH, Dennett X, Thorburn DR. Kirby DM, et al. Among authors: thorburn dr. Neurology. 1999 Apr 12;52(6):1255-64. doi: 10.1212/wnl.52.6.1255. Neurology. 1999. PMID: 10214753
Genetic counseling and prenatal diagnosis for the mitochondrial DNA mutations at nucleotide 8993.
White SL, Collins VR, Wolfe R, Cleary MA, Shanske S, DiMauro S, Dahl HH, Thorburn DR. White SL, et al. Among authors: thorburn dr. Am J Hum Genet. 1999 Aug;65(2):474-82. doi: 10.1086/302488. Am J Hum Genet. 1999. PMID: 10417290 Free PMC article.
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