Sasarman F - Search Results

1

Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome.

Schwartzentruber J, Buhas D, Majewski J, Sasarman F, Papillon-Cavanagh S, Thiffault I, Sheldon KM, Massicotte C, Patry L, Simon M, Zare AS, McKernan KJ; FORGE Canada Consortium; Michaud J, Boles RG, Deal CL, Desilets V, Shoubridge EA, Samuels ME. Schwartzentruber J, et al. Among authors: sasarman f. Hum Mutat. 2014 Nov;35(11):1285-9. doi: 10.1002/humu.22629. Epub 2014 Oct 18. Hum Mutat. 2014. PMID: 25130867

2

A novel mutation in YARS2 causes myopathy with lactic acidosis and sideroblastic anemia.

Sasarman F, Nishimura T, Thiffault I, Shoubridge EA. Sasarman F, et al. Hum Mutat. 2012 Aug;33(8):1201-6. doi: 10.1002/humu.22098. Epub 2012 May 7. Hum Mutat. 2012. PMID: 22504945

3

Nuclear genetic control of mitochondrial translation in skeletal muscle revealed in patients with mitochondrial myopathy.

Sasarman F, Karpati G, Shoubridge EA. Sasarman F, et al. Hum Mol Genet. 2002 Jul 1;11(14):1669-81. doi: 10.1093/hmg/11.14.1669. Hum Mol Genet. 2002. PMID: 12075011

4

The molecular basis for tissue specificity of the oxidative phosphorylation deficiencies in patients with mutations in the mitochondrial translation factor EFG1.

Antonicka H, Sasarman F, Kennaway NG, Shoubridge EA. Antonicka H, et al. Among authors: sasarman f. Hum Mol Genet. 2006 Jun 1;15(11):1835-46. doi: 10.1093/hmg/ddl106. Epub 2006 Apr 21. Hum Mol Genet. 2006. PMID: 16632485

5

The A3243G tRNALeu(UUR) MELAS mutation causes amino acid misincorporation and a combined respiratory chain assembly defect partially suppressed by overexpression of EFTu and EFG2.

Sasarman F, Antonicka H, Shoubridge EA. Sasarman F, et al. Hum Mol Genet. 2008 Dec 1;17(23):3697-707. doi: 10.1093/hmg/ddn265. Epub 2008 Aug 27. Hum Mol Genet. 2008. PMID: 18753147

6

The 2-thiouridylase function of the human MTU1 (TRMU) enzyme is dispensable for mitochondrial translation.

Sasarman F, Antonicka H, Horvath R, Shoubridge EA. Sasarman F, et al. Hum Mol Genet. 2011 Dec 1;20(23):4634-43. doi: 10.1093/hmg/ddr397. Epub 2011 Sep 1. Hum Mol Genet. 2011. PMID: 21890497

7

Radioactive labeling of mitochondrial translation products in cultured cells.

Sasarman F, Shoubridge EA. Sasarman F, et al. Methods Mol Biol. 2012;837:207-17. doi: 10.1007/978-1-61779-504-6_14. Methods Mol Biol. 2012. PMID: 22215550

8

An RMND1 Mutation causes encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defect.

Janer A, Antonicka H, Lalonde E, Nishimura T, Sasarman F, Brown GK, Brown RM, Majewski J, Shoubridge EA. Janer A, et al. Among authors: sasarman f. Am J Hum Genet. 2012 Oct 5;91(4):737-43. doi: 10.1016/j.ajhg.2012.08.020. Epub 2012 Sep 27. Am J Hum Genet. 2012. PMID: 23022098 Free PMC article.

9

Novel mutations in SCO1 as a cause of fatal infantile encephalopathy and lactic acidosis.

Leary SC, Antonicka H, Sasarman F, Weraarpachai W, Cobine PA, Pan M, Brown GK, Brown R, Majewski J, Ha KC, Rahman S, Shoubridge EA. Leary SC, et al. Among authors: sasarman f. Hum Mutat. 2013 Oct;34(10):1366-70. doi: 10.1002/humu.22385. Epub 2013 Aug 12. Hum Mutat. 2013. PMID: 23878101

10

Tissue-specific responses to the LRPPRC founder mutation in French Canadian Leigh Syndrome.

Sasarman F, Nishimura T, Antonicka H, Weraarpachai W, Shoubridge EA; LSFC Consortium. Sasarman F, et al. Hum Mol Genet. 2015 Jan 15;24(2):480-91. doi: 10.1093/hmg/ddu468. Epub 2014 Sep 11. Hum Mol Genet. 2015. PMID: 25214534 Free PMC article.

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