Works by Sasarman, Florin

Results: 18
    1

    Mutations in the Mitochondrial Methionyl-tRNA Synthetase Cause a Neurodegenerative Phenotype in Flies and a Recessive Ataxia (ARSAL) in Humans.

    Published in:
    PLoS Biology, 2012, v. 10, n. 3, p. 1, doi. 10.1371/journal.pbio.1001288
    By:
    • Bayat, Vafa;
    • Thiffault, Isabelle;
    • Jaiswal, Manish;
    • Tétreault, Martine;
    • Donti, Taraka;
    • Sasarman, Florin;
    • Bernard, Geneviève;
    • Demers-Lamarche, Julie;
    • Dicaire, Marie-Josée;
    • Mathieu, Jean;
    • Vanasse, Michel;
    • Bouchard, Jean-Pierre;
    • Rioux, Marie-France;
    • Lourenco, Charles M.;
    • Zhihong Li;
    • Haueter, Claire;
    • Shoubridge, Eric A.;
    • Graham, Brett H.;
    • Brais, Bernard;
    • Bellen, Hugo J.
    Publication type:
    Article
    2

    3‐Hydroxyisobutyric acid dehydrogenase deficiency: Expanding the clinical spectrum and quantitation of D‐ and L‐3‐Hydroxyisobutyric acid by an LC–MS/MS method.

    Published in:
    Journal of Inherited Metabolic Disease, 2022, v. 45, n. 3, p. 445, doi. 10.1002/jimd.12486
    By:
    • Sasarman, Florin;
    • Ferdinandusse, Sacha;
    • Sinasac, David S.;
    • Fung, Ernest;
    • Sparkes, Rebecca;
    • Reeves, Melanie;
    • Rombough, Catherine;
    • Sass, Jörn Oliver;
    • Voit, Renate;
    • Ruiter, Jos P. N.;
    • Koster, Janet;
    • Waterham, Hans R.;
    • Pasquini, Elisabetta;
    • Donati, Maria A.;
    • Marquardt, Thorsten;
    • Wanders, Ronald J. A.;
    • Al‐Hertani, Walla
    Publication type:
    Article
    3
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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.

    Published in:
    Human Mutation, 2015, v. 36, n. 2, p. 281, doi. 10.1002/humu.22756
    By:
    • Schwartzentruber, Jeremy;
    • Buhas, Daniela;
    • Majewski, Jacek;
    • Sasarman, Florin;
    • Papillon‐Cavanagh, Simon;
    • Thiffault, Isabelle;
    • Sheldon, Katherine M.;
    • Massicotte, Christine;
    • Patry, Lysanne;
    • Simon, Mariella;
    • Zare, Amir S.;
    • McKernan, Kevin J.;
    • Consortium, FORGE Canada;
    • Michaud, Jacques;
    • Boles, Richard G.;
    • Deal, Cheri L.;
    • Desilets, Valerie;
    • Shoubridge, Eric A.;
    • Samuels, Mark E.
    Publication type:
    Article
    5

    Mutation in The Nuclear-Encoded Mitochondrial Isoleucyl-t RNA Synthetase IARS2 in Patients with Cataracts, Growth Hormone Deficiency with Short Stature, Partial Sensorineural Deafness, and Peripheral Neuropathy or with Leigh Syndrome.

    Published in:
    Human Mutation, 2014, v. 35, n. 11, p. 1285, doi. 10.1002/humu.22629
    By:
    • Schwartzentruber, Jeremy;
    • Buhas, Daniela;
    • Majewski, Jacek;
    • Sasarman, Florin;
    • Papillon‐Cavanagh, Simon;
    • Thiffaut, Isabelle;
    • Sheldon, Katherine M.;
    • Massicotte, Christine;
    • Patry, Lysanne;
    • Simon, Mariella;
    • Zare, Amir S.;
    • McKernan, Kevin J.;
    • Michaud, Jacques;
    • Boles, Richard G.;
    • Deal, Cheri L.;
    • Desilets, Valerie;
    • Shoubridge, Eric A.;
    • Samuels, Mark E.
    Publication type:
    Article
    6
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    10

    The 3' addition of CCA to mitochondrial tRNA<sup>Ser(AGY)</sup> is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1.

    Published in:
    Human Molecular Genetics, 2015, v. 24, n. 10, p. 2841, doi. 10.1093/hmg/ddv044
    By:
    • Sasarman, Florin;
    • Thiffault, Isabelle;
    • Weraarpachai, Woranontee;
    • Salomon, Steven;
    • Maftei, Catalina;
    • Gauthier, Julie;
    • Ellazam, Benjamin;
    • Webb, Neil;
    • Antonicka, Hana;
    • Janer, Alexandre;
    • Brunel-Guitton, Catherine;
    • Elpeleg, Orly;
    • Mitchell, Grant;
    • Shoubridge, Eric A.
    Publication type:
    Article
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