Works by Brunel-Guitton, Catherine

Results: 14
    1
    2
    3

    Inborn errors of cytoplasmic triglyceride metabolism.

    Published in:
    Journal of Inherited Metabolic Disease, 2015, v. 38, n. 1, p. 85, doi. 10.1007/s10545-014-9767-7
    By:
    • Wu, Jiang;
    • Yang, Hao;
    • Wang, Shu;
    • Soni, Krishnakant;
    • Brunel-Guitton, Catherine;
    • Mitchell, Grant
    Publication type:
    Article
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    6

    De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy.

    Published in:
    Human Mutation, 2015, v. 36, n. 1, p. 69, doi. 10.1002/humu.22709
    By:
    • Lee, Jae‐Ran;
    • Srour, Myriam;
    • Kim, Doyoun;
    • Hamdan, Fadi. F.;
    • Lim, So‐Hee;
    • Brunel‐Guitton, Catherine;
    • Décarie, Jean‐Claude;
    • Rossignol, Elsa;
    • Mitchell, Grant A.;
    • Schreiber, Allison;
    • Moran, Rocio;
    • Haren, Keith;
    • Richardson, Randal;
    • Nicolai, Joost;
    • Oberndorff, Karin M.E.J.;
    • Wagner, Justin D.;
    • Boycott, Kym M.;
    • Rahikkala, Elisa;
    • Junna, Nella;
    • Tyynismaa, Henna
    Publication type:
    Article
    7

    Evaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: lessons learned from the Canadian Inherited Metabolic Diseases Research Network.

    Published in:
    2020
    By:
    • Tingley, Kylie;
    • Lamoureux, Monica;
    • Pugliese, Michael;
    • Geraghty, Michael T.;
    • Kronick, Jonathan B.;
    • Potter, Beth K.;
    • Coyle, Doug;
    • Wilson, Kumanan;
    • Kowalski, Michael;
    • Austin, Valerie;
    • Brunel-Guitton, Catherine;
    • Buhas, Daniela;
    • Chan, Alicia K. J.;
    • Dyack, Sarah;
    • Feigenbaum, Annette;
    • Giezen, Alette;
    • Goobie, Sharan;
    • Greenberg, Cheryl R.;
    • Ghai, Shailly Jain;
    • Inbar-Feigenberg, Michal
    Publication type:
    journal article
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    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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    Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.

    Published in:
    BMC Pediatrics, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12887-023-04393-4
    By:
    • Iverson, Ryan;
    • Taljaard, Monica;
    • Geraghty, Michael T.;
    • Pugliese, Michael;
    • Tingley, Kylie;
    • Coyle, Doug;
    • Kronick, Jonathan B.;
    • Wilson, Kumanan;
    • Austin, Valerie;
    • Brunel-Guitton, Catherine;
    • Buhas, Daniela;
    • Butcher, Nancy J.;
    • Chan, Alicia K. J.;
    • Dyack, Sarah;
    • Goobie, Sharan;
    • Greenberg, Cheryl R.;
    • Jain-Ghai, Shailly;
    • Inbar-Feigenberg, Michal;
    • Karp, Natalya;
    • Kozenko, Mariya
    Publication type:
    Article
    13

    Health Care for Mitochondrial Disorders in Canada: A Survey of Physicians.

    Published in:
    Canadian Journal of Neurological Sciences, 2019, v. 46, n. 6, p. 717, doi. 10.1017/cjn.2019.240
    By:
    • Paik, Karen;
    • Lines, Matthew A.;
    • Chakraborty, Pranesh;
    • Khangura, Sara D.;
    • Latocki, Maureen;
    • Al-Hertani, Walla;
    • Brunel-Guitton, Catherine;
    • Khan, Aneal;
    • Penny, Blaine;
    • Rockman-Greenberg, Cheryl;
    • Rupar, C. Anthony;
    • Sondheimer, Neal;
    • Tarnopolsky, Mark;
    • Tingley, Kylie;
    • Coyle, Doug;
    • Dyack, Sarah;
    • Feigenbaum, Annette;
    • Geraghty, Michael T.;
    • Gillis, Jane;
    • van Karnebeek, Clara D. M.
    Publication type:
    Article
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