Florin Sasarman, Ph.D.
Affiliations: | 2004 | McGill University, Montreal, QC, Canada |
Area:
Genetics, PathologyGoogle:
"Florin Sasarman"Parents
Sign in to add mentor| Eric A. Shoubridge | grad student | 2004 | McGill | |
| (Adult mitochondrial myopathy associated with generalized respiratory chain deficiency: Molecular mechanism and genetic basis.) | ||||
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Publications
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| Sasarman F, Maftei C, Campeau PM, et al. (2016) Biosynthesis of glycosaminoglycans: associated disorders and biochemical tests. Journal of Inherited Metabolic Disease. 39: 173-88 |
| Meijer IA, Sasarman F, Maftei C, et al. (2015) LPIN1 deficiency with severe recurrent rhabdomyolysis and persistent elevation of creatine kinase levels due to chromosome 2 maternal isodisomy. Molecular Genetics and Metabolism Reports. 5: 85-88 |
| Brunel-Guitton C, Levtova A, Sasarman F. (2015) Mitochondrial Diseases and Cardiomyopathies. The Canadian Journal of Cardiology. 31: 1360-76 |
| Hinttala R, Sasarman F, Nishimura T, et al. (2015) An N-terminal formyl methionine on COX 1 is required for the assembly of cytochrome c oxidase. Human Molecular Genetics. 24: 4103-13 |
| Sasarman F, Thiffault I, Weraarpachai W, et al. (2015) The 3' addition of CCA to mitochondrial tRNASer(AGY) is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1. Human Molecular Genetics. 24: 2841-7 |
| Janer A, van Karnebeek CD, Sasarman F, et al. (2015) RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvement. European Journal of Human Genetics : Ejhg |
| Sasarman F, Nishimura T, Antonicka H, et al. (2015) Tissue-specific responses to the LRPPRC founder mutation in French Canadian Leigh Syndrome Human Molecular Genetics. 24: 480-491 |
| Schwartzentruber J, Buhas D, Majewski J, et al. (2014) 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. Human Mutation. 35: 1285-9 |
| Zurita Rendón O, Silva Neiva L, Sasarman F, et al. (2014) The arginine methyltransferase NDUFAF7 is essential for complex I assembly and early vertebrate embryogenesis. Human Molecular Genetics. 23: 5159-70 |
| Leary SC, Antonicka H, Sasarman F, et al. (2013) Novel mutations in SCO1 as a cause of fatal infantile encephalopathy and lactic acidosis. Human Mutation. 34: 1366-70 |