Hasil Pencarian - Paula J. Waters

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  1. 1
    HSD10 mitochondrial disease: p.Leu122Val variant, mild clinical phenotype, and founder effect in French‐Canadian patients from Quebec

    HSD10 mitochondrial disease: p.Leu122Val variant, mild clinical phenotype, and founder effect in French‐Canadian patients from Quebec oleh Paula J. Waters, Baiba Lace, Daniela Buhas, Serge Gravel, Denis Cyr, Renée‐Myriam Boucher, Geneviève Bernard, Sébastien Lévesque, Bruno Maranda

    Diterbitkan 2019-12-01
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  2. 2
    Safety and efficacy of deoxycytidine/deoxythymidine combination therapy in POLG-related disorders: 6-month interim results of an open-label, single arm, phase 2 trialResearch in context

    Safety and efficacy of deoxycytidine/deoxythymidine combination therapy in POLG-related disorders: 6-month interim results of an open-label, single arm, phase 2 trialResearch in co... oleh Heather Pekeles, Saoussen Berrahmoune, Christelle Dassi, Anthony C.T. Cheung, Tommy Gagnon, Paula J. Waters, Ralf Eberhard, Daniela Buhas, Kenneth A. Myers

    Diterbitkan 2024-08-01
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  3. 3
    Struggling for breath in Sherbrooke 1st Symposium on “One mitochondrion, many diseases” in Sherbrooke, Québec, Canada, March 11th, 2015

    Struggling for breath in Sherbrooke 1st Symposium on “One mitochondrion, many diseases” in Sherbrooke, Québec, Canada, March 11th, 2015 oleh Ralf J. Braun, Verónica I. Dumit, Cécile Monpays, Xavier Roucou, Daniel Serrano, Julie St-Pierre, Paula J. Waters, Ian Bates, Denis Gris

    Diterbitkan 2015-05-01
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  4. 4
    Mildly elevated succinylacetone and normal liver function in compound heterozygotes with pathogenic and pseudodeficient FAH alleles

    Mildly elevated succinylacetone and normal liver function in compound heterozygotes with pathogenic and pseudodeficient FAH alleles oleh Hao Yang, Francis Rossignol, Denis Cyr, Rachel Laframboise, Shu Pei Wang, Jean-François Soucy, Marie-Thérèse Berthier, Yves Giguère, Paula J. Waters, Grant A. Mitchell

    Diterbitkan 2018-03-01
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  5. 5
    A Metabolic Signature of Mitochondrial Dysfunction Revealed through a Monogenic Form of Leigh Syndrome

    A Metabolic Signature of Mitochondrial Dysfunction Revealed through a Monogenic Form of Leigh Syndrome oleh Julie Thompson Legault, Laura Strittmatter, Jessica Tardif, Rohit Sharma, Vanessa Tremblay-Vaillancourt, Chantale Aubut, Gabrielle Boucher, Clary B. Clish, Denis Cyr, Caroline Daneault, Paula J. Waters, Azadeh Aliskashani, Bruce G. Allen, Chantale Aubut, Claudine Beauchamp, Chantal Bemeur, Yan Burelle, Guy Charron, Lise Coderre, Christine Des Rosiers, Sonia Deschênes, François Labarthe, Jeannine Landry, Catherine Laprise, Geneviève Lavallée, Pierre Lavoie, Bruno Maranda, Charles Morin, Yvette Mukaneza, Tamiko Nishimura, John D. Rioux, Marie-Ève Rivard, Florin Sasarman, Eric A. Shoubridge, Jessica Tardif, Julie Thompson Legault, Nancy Tremblay, Vanessa Tremblay-Vaillancourt, Luc Vachon, Josée Villeneuve

    Diterbitkan 2015-11-01
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