Works matching AU Labarthe, François

Results: 24
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    Disruption of Lrpprc affects B cell development and proliferation in a mouse model of Leigh Syndrome French Canadian type.

    Published in:
    Journal of Rare Diseases, 2025, v. 4, n. 1, p. 1, doi. 10.1007/s44162-025-00094-x
    By:
    • Fois, Adrien;
    • Deschênes, Sonia;
    • Bourel, Capucine;
    • Beauchamp, Claudine;
    • Lombard-Vadnais, Félix;
    • Ruiz, Matthieu;
    • Charron, Guy;
    • Coderre, Lise;
    • Des Rosiers, Christine;
    • Alikashani, Azadeh;
    • Allen, Bruce G.;
    • Aubut, Chantale;
    • Bémeur, Chantal;
    • Burelle, Yan;
    • Labarthe, François;
    • Landry, Jeannine;
    • Laprise, Catherine;
    • Lavallée, Geneviève;
    • Lavoie, Pierre;
    • Maranda, Bruno
    Publication type:
    Article
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    Newborn Screening of Primary Carnitine Deficiency: An Overview of Worldwide Practices and Pitfalls to Define an Algorithm before Expansion of Newborn Screening in France.

    Published in:
    International Journal of Neonatal Screening (IJNS), 2023, v. 9, n. 1, p. 6, doi. 10.3390/ijns9010006
    By:
    • Lefèvre, Charles R.;
    • Labarthe, François;
    • Dufour, Diane;
    • Moreau, Caroline;
    • Faoucher, Marie;
    • Rollier, Paul;
    • Arnoux, Jean-Baptiste;
    • Tardieu, Marine;
    • Damaj, Léna;
    • Bendavid, Claude;
    • Dessein, Anne-Frédérique;
    • Acquaviva-Bourdain, Cécile;
    • Cheillan, David
    Publication type:
    Article
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    Adaptive optimization of the OXPHOS assembly line partially compensates lrpprc-dependent mitochondrial translation defects in mice.

    Published in:
    Communications Biology, 2021, v. 4, n. 1, p. 1, doi. 10.1038/s42003-021-02492-5
    By:
    • Cuillerier, Alexanne;
    • Ruiz, Matthieu;
    • Daneault, Caroline;
    • Forest, Anik;
    • Rossi, Jenna;
    • Vasam, Goutham;
    • Cairns, George;
    • Cadete, Virgilio;
    • The LSFC Consortium;
    • Aliskashani, Azadeh;
    • Allen, Bruce G.;
    • Aubut, Chantale;
    • Bemeur, Chantal;
    • Beauchamp, Claudine;
    • Burelle, Yan;
    • Charron, Guy;
    • Coderre, Lise;
    • Des Rosiers, Christine;
    • Deschênes, Sonia;
    • Labarthe, François
    Publication type:
    Article
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    Effects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: a national French retrospective study.

    Published in:
    Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02804-4
    By:
    • Freihuber, Cécile;
    • Dahmani-Rabehi, Bahia;
    • Brassier, Anaïs;
    • Broué, Pierre;
    • Cances, Claude;
    • Chabrol, Brigitte;
    • Eyer, Didier;
    • Labarthe, François;
    • Latour, Philippe;
    • Levade, Thierry;
    • Pichard, Samia;
    • Sevin, Caroline;
    • Vanier, Marie T.;
    • Héron, Bénédicte
    Publication type:
    Article
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    Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsiveness.

    Published in:
    2015
    By:
    • Jeannesson-Thivisol, Elise;
    • Feillet, François;
    • Chéry, Céline;
    • Perrin, Pascal;
    • Battaglia-Hsu, Shyue-Fang;
    • Herbeth, Bernard;
    • Cano, Aline;
    • Barth, Magalie;
    • Fouilhoux, Alain;
    • Mention, Karine;
    • Labarthe, François;
    • Arnoux, Jean-Baptiste;
    • Maillot, François;
    • Lenaerts, Catherine;
    • Dumesnil, Cécile;
    • Wagner, Kathy;
    • Terral, Daniel;
    • Broué, Pierre;
    • de Parscau, Loïc;
    • Gay, Claire
    Publication type:
    journal article
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    Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis.

    Published in:
    Journal of Inherited Metabolic Disease, 2017, v. 40, n. 3, p. 415, doi. 10.1007/s10545-017-0021-y
    By:
    • Paquay, Stéphanie;
    • Bourillon, Agnès;
    • Pichard, Samia;
    • Benoist, Jean-François;
    • Lonlay, Pascale;
    • Dobbelaere, Dries;
    • Fouilhoux, Alain;
    • Guffon, Nathalie;
    • Rouvet, Isabelle;
    • Labarthe, François;
    • Mention, Karine;
    • Touati, Guy;
    • Valayannopoulos, Vassili;
    • Ogier de Baulny, Hélène;
    • Elmaleh-Bergès, Monique;
    • Acquaviva-Bourdain, Cécile;
    • Vianey-Saban, Christine;
    • Schiff, Manuel
    Publication type:
    Article
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    Long-Chain Acylcarnitines Regulate the hERG Channel.

    Published in:
    PLoS ONE, 2012, v. 7, n. 7, p. 1, doi. 10.1371/journal.pone.0041686
    By:
    • Ferro, Fabio;
    • Ouillé, Aude;
    • Tran, Truong-An;
    • Fontanaud, Pierre;
    • Bois, Patrick;
    • Babuty, Dominique;
    • Labarthe, François;
    • Le Guennec, Jean-Yves
    Publication type:
    Article
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