Canlyniadau Chwilio - Cécile Acquaviva

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  1. 1
    Fifty years of research on mitochondrial fatty acid oxidation disorders: The remaining challenges

    Fifty years of research on mitochondrial fatty acid oxidation disorders: The remaining challenges gan Christine Vianey‐Saban, Nathalie Guffon, Alain Fouilhoux, Cécile Acquaviva

    Cyhoeddwyd 2023
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  2. 2
    Primary Hyperoxaluria

    Primary Hyperoxaluria gan Jérôme Harambat, Sonia Fargue, Justine Bacchetta, Cécile Acquaviva, Pierre Cochat

    Cyhoeddwyd 2011
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  3. 3
    Data from a large European study indicate that the outcome of primary hyperoxaluria type 1 correlates with the AGXT mutation type

    Data from a large European study indicate that the outcome of primary hyperoxaluria type 1 correlates with the AGXT mutation type gan Giorgia Mandrile, Christiaan S. van Woerden, Paola Berchialla, Bodo B. Beck, Cécile Acquaviva Bourdain, Sally‐Anne Hulton, Gill Rumsby

    Cyhoeddwyd 2014
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  4. 4
    Genetic assessment in primary hyperoxaluria: why it matters

    Genetic assessment in primary hyperoxaluria: why it matters gan Giorgia Mandrile, Bodo B. Beck, Cécile Acquaviva, Gill Rumsby, Lisa J. Deesker, Sander F. Garrelfs, Asheeta Gupta, Justine Bacchetta, Jaap W. Groothoff

    Cyhoeddwyd 2022
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  5. 5
    Evolutionary Implications of the Frequent Horizontal Transfer of Mismatch Repair Genes

    Evolutionary Implications of the Frequent Horizontal Transfer of Mismatch Repair Genes gan Érick Denamur, Guillaume Lecointre, Pierre Darlu, Olivier Tenaillon, Cécile Acquaviva, Chalom Sayada, Ivana Šunjevarić, Rodney Rothstein, Jacques Élion, François Taddéi, Miroslav Radman, Ivan Matić

    Cyhoeddwyd 2000
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  6. 6
    Submicroscopic bone marrow involvement in isolated extramedullary relapses in childhood acute lymphoblastic leukemia: a more precise definition of “isolated” and its possible clinical implications, a collaborative study of the Resistant Disease Committee of the International BFM study group

    Submicroscopic bone marrow involvement in isolated extramedullary relapses in childhood acute lymphoblastic leukemia: a more precise definition of “isolated” and its possible clini... gan Nikola Hagedorn, Cécile Acquaviva, Eva Froňková, Arend von Stackelberg, Andrea Barth, Udo zur Stadt, André Schrauder, Jan Trka, Nathalie Gaspar, Karl Seeger, Günter Henze, Hélène Cavé, Cornelia Eckert

    Cyhoeddwyd 2007
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  7. 7
    Membrane-Bound CYB5R3 Is a Common Effector of Nutritional and Oxidative Stress Response Through FOXO3a and Nrf2

    Membrane-Bound CYB5R3 Is a Common Effector of Nutritional and Oxidative Stress Response Through FOXO3a and Nrf2 gan Emilio Siendones, Sara Santa-Cruz Calvo, Alejandro Martín‐Montalvo, María V. Cascajo, Julia Ariza, Guillermo López‐Lluch, José M. Villalba, Cécile Acquaviva, Emmanuel Roze, Michel Bernier, Rafael de Cabo, Plácido Navas

    Cyhoeddwyd 2014
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  8. 8
    Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias

    Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias gan Mathilde Nizon, Chris Ottolenghi, Vassili Valayannopoulos, Jean‐Baptiste Arnoux, Valérie Barbier, Florence Habarou, Isabelle Desguerre, Nathalie Boddaert, Jean‐Paul Bonnefont, Cécile Acquaviva, Jean‐François Benoist, Daniel Rabier, Guy Touati, Pascale de Lonlay

    Cyhoeddwyd 2013
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  9. 9
    <i>SLC25A32</i> Mutations and Riboflavin-Responsive Exercise Intolerance

    <i>SLC25A32</i> Mutations and Riboflavin-Responsive Exercise Intolerance gan Manuel Schiff, Alice Veauville‐Merllié, Chen Su, Alexander Tzagoloff, Malgorzata Rak, Hélène Ogier de Baulny, Audrey Boutron, Hélène Smedts-Walters, Norma B. Romero, Odile Rigal, Pierre Rustin, Christine Vianey‐Saban, Cécile Acquaviva

    Cyhoeddwyd 2016
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  10. 10
    Mutations in the lipoyltransferase<i>LIPT1</i>gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexes

    Mutations in the lipoyltransferase<i>LIPT1</i>gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexes gan Frederic Tort, Xènia Ferrer-Cortés, Marta Thió, Aleix Navarro‐Sastre, Leslie Matalonga, Ester Quintana, Núria Bujan, Ángela Arias, Judit García‐Villoria, Cécile Acquaviva, Christine Vianey‐Saban, Rafael Artuch, Àngels García‐Cazorla, Paz Briones, Antònia Ribes

    Cyhoeddwyd 2013
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  11. 11
    Imeglimin Normalizes Glucose Tolerance and Insulin Sensitivity and Improves Mitochondrial Function in Liver of a High-Fat, High-Sucrose Diet Mice Model

    Imeglimin Normalizes Glucose Tolerance and Insulin Sensitivity and Improves Mitochondrial Function in Liver of a High-Fat, High-Sucrose Diet Mice Model gan Guillaume Vial, Marie‐Agnès Chauvin, Nadia Bendridi, Annie Durand, Emmanuelle Meugnier, Anne‐Marie Madec, Nathalie Bernoud‐Hubac, Jean-Paul Paı̈s de Barros, Éric Fontaine, Cécile Acquaviva, Sophie Hallakou‐Bozec, Sébastien Bolze, Hubert Vidal, Jennifer Rieusset

    Cyhoeddwyd 2014
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  12. 12
    Genotype–phenotype correlation in primary hyperoxaluria type 1: the p.Gly170Arg AGXT mutation is associated with a better outcome

    Genotype–phenotype correlation in primary hyperoxaluria type 1: the p.Gly170Arg AGXT mutation is associated with a better outcome gan Jérôme Harambat, Sonia Fargue, Cécile Acquaviva, Marie‐France Gagnadoux, Françoise Janssen, A. Liutkus, Chebl Mourani, Marie‐Alice Macher, Daniel Abramowicz, Christophe Legendre, Antoine Dürrbach, Michel Tsimaratos, Hubert Nivet, Éric Girardin, Anne‐Marie Schott, Marie-Odile Rolland, Pierre Cochat

    Cyhoeddwyd 2009
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  13. 13
    Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment

    Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment gan Pierre Cochat, Sally A. Hulton, Cécile Acquaviva, Christopher J. Danpure, Michel Daudon, M. Marchi, Sonia Fargue, Jaap W. Groothoff, Jérôme Harambat, Bernd Höppe, Neville V. Jamieson, Markus J. Kemper, Giorgia Mandrile, Martino Marangella, Stefano Picca, Gill Rumsby, Eduardo Salido, Michael Straub, Christiaan S. van Woerden

    Cyhoeddwyd 2012
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  14. 14
    Clinical practice recommendations for primary hyperoxaluria: an expert consensus statement from ERKNet and OxalEurope

    Clinical practice recommendations for primary hyperoxaluria: an expert consensus statement from ERKNet and OxalEurope gan Jaap W. Groothoff, Ella Metry, Lisa J. Deesker, Sander F. Garrelfs, Cécile Acquaviva, Reham Almardini, Bodo B. Beck, Olivia Boyer, Rimantė Čerkauskienė, Pietro Manuel Ferraro, Luitzen Albert Groen, Asheeta Gupta, Bertrand Knebelmann, Giorgia Mandrile, Shabbir S. Moochhala, Agnieszka Prytula-Ebels, Jovana Putnik, Gill Rumsby, Neveen A. Soliman, Bhaskar Somani, Justine Bacchetta

    Cyhoeddwyd 2023
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  15. 15
    The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT

    The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT gan Curtis R. Coughlin, Michael A. Swanson, Kathryn E. Kronquist, Cécile Acquaviva, Tim Hutchin, Pilar Rodríguez‐Pombo, Marja-Leena Väisänen, Elaine Spector, Geralyn Creadon‐Swindell, Ana M. Brás-Goldberg, Elisa Rahikkala, Jukka S. Moilanen, Vincent Mahieu, Gert Matthijs, Irene Bravo‐Alonso, Celia Pérez‐Cerdá, Magdalena Ugarte, Christine Vianey‐Saban, Gunter Scharer, Johan L.K. Van Hove

    Cyhoeddwyd 2016
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  16. 16
    The EuroChimerism concept for a standardized approach to chimerism analysis after allogeneic stem cell transplantation

    The EuroChimerism concept for a standardized approach to chimerism analysis after allogeneic stem cell transplantation gan Thomas Lion, Franz Watzinger, Sandra Preuner, Hermann Kreyenberg, Marcel G.J. Tilanus, R de Weger, J. Van Loon, Lianne P. de Vries, Hélène Cavé, Cécile Acquaviva, Mark Lawler, Mireille Crampe, Anna Serra, B Saglio, Federica Colnaghi, Andrea Biondi, Jacques J. M. van Dongen, Mirjam van der Burg, Marcos González, Miguel Alcoceba, Gisela Barbany, Monica Hermanson, Eddy Roosnek, Colin G. Steward, J. Harvey, Florian Frommlet, Peter Bader

    Cyhoeddwyd 2012
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  17. 17
    Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency

    Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency gan Rikke Katrine Jentoft Olsen, Eliška Koňaříková, Teresa Anna Giancaspero, Signe Mosegaard, Veronika Boczonadi, Lavinija Mataković, Alice Veauville‐Merllié, Caterina Terrile, Thomas Schwarzmayr, Tobias B. Haack, Mari Auranen, Piero Leone, Michele Galluccio, Apolline Imbard, Purificacion Gutierrez-Ríos, Johan Palmfeldt, Elisabeth Graf, Christine Vianey‐Saban, Marcus Oppenheim, Manuel Schiff, Samia Pichard, Odile Rigal, Angela Pyle, Patrick F. Chinnery, Vassiliki Konstantopoulou, Dorothea Möslinger, René G. Feichtinger, Beril Talim, Haluk Topaloğlu, Turgay Coşkun, Şafak Güçer, Annalisa Botta, Elena Pegoraro, Adriana Malena, Lodovica Vergani, Daniela Mazzà, Marcella Zollino, Daniele Ghezzi, Cécile Acquaviva, Tiina Tyni, Avihu Boneh, Thomas Meitinger, Tim M. Strom, Niels Gregersen, Johannes A. Mayr, Rita Horváth, Maria Barile, Holger Prokisch

    Cyhoeddwyd 2016
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  18. 18
    PFMG2025–integrating genomic medicine into the national healthcare system in France

    PFMG2025–integrating genomic medicine into the national healthcare system in France gan Caroline Abadie, Aldja Abderrahmane, Ouarda Abdous, Carine Abel, O. Ackermann, Cécile Acquaviva, Flavie Ader, Salma Adham, Dalila Adjaoud, Alexandra Afenjar, Nathalie Aladjidi, Anne‐Sophie Alary, F. Albarel, Sabrina Albert, Lise Allard, Ingrid Allix, Violaine Alunni, Inês F. Amado, Cyril Amouroux, Nicolas André, Chloé Angelini, Mathieu Anheim, Ignacio Antolin Sanfelliz, Thomas Aparicio, Chloé Arfeuille, J Arlet, Lionel Arnaud, Pauline Arnaud, Guilhem Arnold, Tania Attié‐Bitach, Marion Aubert‐Mucca, Isabelle Audo, Marie‐Pierre Audrézet, Maxime Auroux, Céline Auzanneau, Xavier Ayrignac, Ibrahima Ba, Anne Bachelot, Delphine Bacq, Séverine Bacrot, Brigitte Bader‐Meunier, Sarah Baer, Stéphanie Baert‐Desurmont, Laurence Bal-Theoleyre, Ralyath Balogoun, Philippe Baltzinger, Guillaume Banneau, Claire Bar, Audrey Barbet, Giulia Barcia, Laure Barjhoux, Anne Barlier, Vincent Barlogis, Marc Barritault, Magalie Barth, Aurore Barthod-Malat, Peggy Baudouin-Cornu, Geneviève Baujat, Amandine Baurand, Jacques‐Olivier Bay, Michèle Beau‐Faller, Jean-Christophe Beaudoin, Rémi Bellance, Christine Bellanné‐Chantelot, C. Bellera, Alexandre Bélot, Raihane Ben Abdeljelil, Rihab Ben Sghaier, Joy Benadiba, S Bénard, Claire Bénéteau, Karelle Bénistan, Fouzia Benkerdou, Mehdi Benkirane, Jean‐François Benoist, Patrick R. Benusiglio, Camille Bergès, Anne Bergougnoux, Maureen Bernadach, Emilien Bernard, Valérie Bernard, Virginie Bernard, Dounia Beroug, Aurélie Berrard, Jérôme Bertherat, Pascaline Berthet, Clotilde Berthier, Aurélia Bertholet‐Thomas, Jean‐Philippe Bertocchio, François Bertucci, Céline Besse, Elsa Besse-Pinot, D. Bessis, Pauline Beuvain, Stéphane Bézieau, Marie Bidart, Ivan Bièche, Margaux Biehler, Thierry Bienvenu, Frédéric Bilan

    Cyhoeddwyd 2025
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