Christodoulou J - Search Results

1

Expanding the Allelic Heterogeneity of ANO10-Associated Autosomal Recessive Cerebellar Ataxia.

Massey S, Guo Y, Riley LG, Van Bergen NJ, Sandaradura SA, McCusker E, Tchan M, Thauvin-Robinet C, Thomas Q, Moreau T, Davis M, Smits D, Mancini GMS, Hakonarson H, Cooper S, Christodoulou J. Massey S, et al. Among authors: christodoulou j. Neurol Genet. 2023 Jan 23;9(1):e200051. doi: 10.1212/NXG.0000000000200051. eCollection 2023 Feb. Neurol Genet. 2023. PMID: 36698452 Free PMC article.

2

Effects of MECP2 mutation type, location and X-inactivation in modulating Rett syndrome phenotype.

Weaving LS, Williamson SL, Bennetts B, Davis M, Ellaway CJ, Leonard H, Thong MK, Delatycki M, Thompson EM, Laing N, Christodoulou J. Weaving LS, et al. Among authors: christodoulou j. Am J Med Genet A. 2003 Apr 15;118A(2):103-14. doi: 10.1002/ajmg.a.10053. Am J Med Genet A. 2003. PMID: 12655490

3

Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome.

Riley LG, Cooper S, Hickey P, Rudinger-Thirion J, McKenzie M, Compton A, Lim SC, Thorburn D, Ryan MT, Giegé R, Bahlo M, Christodoulou J. Riley LG, et al. Among authors: christodoulou j. Am J Hum Genet. 2010 Jul 9;87(1):52-9. doi: 10.1016/j.ajhg.2010.06.001. Am J Hum Genet. 2010. PMID: 20598274 Free PMC article.

4

The mild form of menkes disease: a 34 year progress report on the original case.

Tchan MC, Wilcken B, Christodoulou J. Tchan MC, et al. Among authors: christodoulou j. JIMD Rep. 2013;9:81-84. doi: 10.1007/8904_2012_183. Epub 2012 Oct 13. JIMD Rep. 2013. PMID: 23430551 Free PMC article.

5

Mutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes.

Lim SC, Friemel M, Marum JE, Tucker EJ, Bruno DL, Riley LG, Christodoulou J, Kirk EP, Boneh A, DeGennaro CM, Springer M, Mootha VK, Rouault TA, Leimkühler S, Thorburn DR, Compton AG. Lim SC, et al. Among authors: christodoulou j. Hum Mol Genet. 2013 Nov 15;22(22):4460-73. doi: 10.1093/hmg/ddt295. Epub 2013 Jun 28. Hum Mol Genet. 2013. PMID: 23814038 Free PMC article.

6

Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia.

Riley LG, Menezes MJ, Rudinger-Thirion J, Duff R, de Lonlay P, Rotig A, Tchan MC, Davis M, Cooper ST, Christodoulou J. Riley LG, et al. Among authors: christodoulou j. Orphanet J Rare Dis. 2013 Dec 17;8:193. doi: 10.1186/1750-1172-8-193. Orphanet J Rare Dis. 2013. PMID: 24344687 Free PMC article.

7

Mitochondrial respiratory chain disorders in childhood: insights into diagnosis and management in the new era of genomic medicine.

Menezes MJ, Riley LG, Christodoulou J. Menezes MJ, et al. Among authors: christodoulou j. Biochim Biophys Acta. 2014 Apr;1840(4):1368-79. doi: 10.1016/j.bbagen.2013.12.025. Epub 2013 Dec 28. Biochim Biophys Acta. 2014. PMID: 24380876 Review.

8

Rapid identification of a novel complex I MT-ND3 m.10134C>A mutation in a Leigh syndrome patient.

Miller DK, Menezes MJ, Simons C, Riley LG, Cooper ST, Grimmond SM, Thorburn DR, Christodoulou J, Taft RJ. Miller DK, et al. Among authors: christodoulou j. PLoS One. 2014 Aug 12;9(8):e104879. doi: 10.1371/journal.pone.0104879. eCollection 2014. PLoS One. 2014. PMID: 25118196 Free PMC article.

9

Inherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1.

Guo Y, Kartawinata M, Li J, Pickett HA, Teo J, Kilo T, Barbaro PM, Keating B, Chen Y, Tian L, Al-Odaib A, Reddel RR, Christodoulou J, Xu X, Hakonarson H, Bryan TM. Guo Y, et al. Among authors: christodoulou j. Blood. 2014 Oct 30;124(18):2767-74. doi: 10.1182/blood-2014-08-596445. Epub 2014 Sep 9. Blood. 2014. PMID: 25205116 Free PMC article.

10

Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia.

Menezes MJ, Guo Y, Zhang J, Riley LG, Cooper ST, Thorburn DR, Li J, Dong D, Li Z, Glessner J, Davis RL, Sue CM, Alexander SI, Arbuckle S, Kirwan P, Keating BJ, Xu X, Hakonarson H, Christodoulou J. Menezes MJ, et al. Among authors: christodoulou j. Hum Mol Genet. 2015 Apr 15;24(8):2297-307. doi: 10.1093/hmg/ddu747. Epub 2015 Jan 2. Hum Mol Genet. 2015. PMID: 25556185

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