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Florin Sasarman

Montreal Neurological Institute and Hospital

32

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Mitochondrial Diseases and Cardiomyopathies

2015 Canadian Journal of Cardiology
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RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvement.

2015 European Journal of Human Genetics
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Tissue-specific responses to the LRPPRC founder mutation in French Canadian Leigh Syndrome

2015 Human Molecular Genetics
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A Metabolic Signature of Mitochondrial Dysfunction Revealed through a Monogenic Form of Leigh Syndrome

2015 Cell Reports
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The 3' addition of CCA to mitochondrial tRNASer(AGY) is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1

2015 Human Molecular Genetics
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with mutations in the tRNA nucleotidyl transferase TRNT1

2015
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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

2014 Human Mutation
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The arginine methyltransferase NDUFAF7 is essential for complex I assembly and early vertebrate embryogenesis

2014 Human Molecular Genetics
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The Mitochondrial RNA-Binding Protein GRSF1 Localizes to RNA Granules and Is Required for Posttranscriptional Mitochondrial Gene Expression

2013 Cell Metabolism
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Novel Mutations in SCO1 as a Cause of Fatal Infantile Encephalopathy and Lactic Acidosis

2013 Human Mutation
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Citations (33)