Christodoulou J - Search Results

1

Multiomic analysis elucidates Complex I deficiency caused by a deep intronic variant in NDUFB10.

Helman G, Compton AG, Hock DH, Walkiewicz M, Brett GR, Pais L, Tan TY, De Paoli-Iseppi R, Clark MB, Christodoulou J, White SM, Thorburn DR, Stroud DA, Stark Z, Simons C. Helman G, et al. Among authors: christodoulou j. Hum Mutat. 2021 Jan;42(1):19-24. doi: 10.1002/humu.24135. Epub 2020 Nov 11. Hum Mutat. 2021. PMID: 33169436 Free PMC article.

2

Leigh syndrome: clinical features and biochemical and DNA abnormalities.

Rahman S, Blok RB, Dahl HH, Danks DM, Kirby DM, Chow CW, Christodoulou J, Thorburn DR. Rahman S, et al. Among authors: christodoulou j. Ann Neurol. 1996 Mar;39(3):343-51. doi: 10.1002/ana.410390311. Ann Neurol. 1996. PMID: 8602753

3

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: christodoulou j. J Pediatr. 1997 Jan;130(1):138-45. doi: 10.1016/s0022-3476(97)70323-8. J Pediatr. 1997. PMID: 9003864

4

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: christodoulou j. J Pediatr. 1997 Mar;130(3):431-6. doi: 10.1016/s0022-3476(97)70206-3. J Pediatr. 1997. PMID: 9063420

5

Respiratory chain complex III [correction of complex] in deficiency with pruritus: a novel vitamin responsive clinical feature.

Mowat D, Kirby DM, Kamath KR, Kan A, Thorburn DR, Christodoulou J. Mowat D, et al. Among authors: christodoulou j. J Pediatr. 1999 Mar;134(3):352-4. doi: 10.1016/s0022-3476(99)70463-4. J Pediatr. 1999. PMID: 10064675 Review.

6

The molecular basis of malonyl-CoA decarboxylase deficiency.

FitzPatrick DR, Hill A, Tolmie JL, Thorburn DR, Christodoulou J. FitzPatrick DR, et al. Among authors: christodoulou j. Am J Hum Genet. 1999 Aug;65(2):318-26. doi: 10.1086/302492. Am J Hum Genet. 1999. PMID: 10417274 Free PMC article.

7

Holocarboxylase synthetase deficiency: urinary metabolites masked by gross ketosis.

Carpente KH, Wilcken B, Christodoulou J, Thorburn DR. Carpente KH, et al. Among authors: christodoulou j. J Inherit Metab Dis. 2000 Dec;23(8):845-6. doi: 10.1023/a:1026721021233. J Inherit Metab Dis. 2000. PMID: 11196112 No abstract available.

8

Mutation screening of the mitochondrial genome using denaturing high-performance liquid chromatography.

Biggin A, Henke R, Bennetts B, Thorburn DR, Christodoulou J. Biggin A, et al. Among authors: christodoulou j. Mol Genet Metab. 2005 Jan;84(1):61-74. doi: 10.1016/j.ymgme.2004.09.011. Epub 2004 Nov 11. Mol Genet Metab. 2005. PMID: 15639196

9

New DGK gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndrome.

Mancuso M, Ferraris S, Pancrudo J, Feigenbaum A, Raiman J, Christodoulou J, Thorburn DR, DiMauro S. Mancuso M, et al. Among authors: christodoulou j. Arch Neurol. 2005 May;62(5):745-7. doi: 10.1001/archneur.62.5.745. Arch Neurol. 2005. PMID: 15883261

10

Flow cytometry in the study of mitochondrial respiratory chain disorders.

Setterfield K, Williams AJ, Donald J, Thorburn DR, Kirby DM, Trounce I, Christodoulou J. Setterfield K, et al. Among authors: christodoulou j. Mitochondrion. 2002 May;1(5):437-45. doi: 10.1016/s1567-7249(02)00008-9. Mitochondrion. 2002. PMID: 16120296

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