检索结果 - Christine Tranchant

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  1. 1
    Plant Pangenome: Impacts on Phenotypes and Evolution

    Plant Pangenome: Impacts on Phenotypes and Evolution 由 Christine Tranchant‐Dubreuil, Mathieu Rouard, François Sabot

    出版 2019
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  2. 2
    Autophagy-Lysosomal Pathway as Potential Therapeutic Target in Parkinson’s Disease

    Autophagy-Lysosomal Pathway as Potential Therapeutic Target in Parkinson’s Disease 由 Srinivasa Reddy Bonam, Christine Tranchant, Sylviane Muller

    出版 2021
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  3. 3
    The inherited cerebellar ataxias: an update

    The inherited cerebellar ataxias: an update 由 Giulia Coarelli, Thomas Wirth, Christine Tranchant, Michel Kœnig, Alexandra Dürr, Mathieu Anheim

    出版 2022
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  4. 4
    Pleiotropic effects of the 8.1 HLA haplotype in patients with autoimmune myasthenia gravis and thymus hyperplasia

    Pleiotropic effects of the 8.1 HLA haplotype in patients with autoimmune myasthenia gravis and thymus hyperplasia 由 Claire Vandiedonck, Geneviève Beaurain, Matthieu Giraud, Catherine Hue-Beauvais, B. Eymard, Christine Tranchant, Philippe Gajdos, J Dausset, Henri‐Jean Garchon

    出版 2004
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  5. 5
    Neuroendocrine Disturbances in Huntington's Disease

    Neuroendocrine Disturbances in Huntington's Disease 由 Nadine Saleh, Stéphane Moutereau, Alexandra Dürr, Pierre Krystkowiak, Jean‐Philippe Azulay, Christine Tranchant, Emmanuel Broussolle, Françoise Morin, Anne‐Catherine Bachoud‐Lévi, Patrick Maison

    出版 2009
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  6. 6
    Assessment of a Targeted Gene Panel for Identification of Genes Associated With Movement Disorders

    Assessment of a Targeted Gene Panel for Identification of Genes Associated With Movement Disorders 由 Solveig Montaut, Christine Tranchant, Nathalie Drouot, Gabrielle Rudolf, Claire Guissart, Julien Tarabeux, Tristan Stemmelen, Amandine Velt, Cécile Fourrage, Patrick Nitschké, Bénédicte Gérard, Jean‐Louis Mandel, Michel Kœnig, Jamel Chelly, Mathieu Anheim

    出版 2018
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  7. 7
    Chlorophyll fluorescence-based high-throughput phenotyping facilitates the genetic dissection of photosynthetic heat tolerance in African (<i>Oryza glaberrima</i>) and Asian (<i>Oryza sativa</i>) rice

    Chlorophyll fluorescence-based high-throughput phenotyping facilitates the genetic dissection of photosynthetic heat tolerance in African (<i>Oryza glaberrima</i>) and Asian (<i>Or... 由 Jordan K Robson, John N. Ferguson, Lorna McAusland, Jonathan A Atkinson, Christine Tranchant‐Dubreuil, Philippe Cubry, François Sabot, Darren M. Wells, Adam H. Price, Zoe A. Wilson, Erik H. Murchie

    出版 2023
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  8. 8
    A 7-kDa Prion Protein (PrP) Fragment, an Integral Component of the PrP Region Required for Infectivity, Is the Major Amyloid Protein in Gerstmann-Sträussler-Scheinker Disease A117V

    A 7-kDa Prion Protein (PrP) Fragment, an Integral Component of the PrP Region Required for Infectivity, Is the Major Amyloid Protein in Gerstmann-Sträussler-Scheinker Disease A117V... 由 Fabrizio Tagliavini, Patricia Lievens, Christine Tranchant, Jean-Marie Warter, Michel Mohr, Giorgio Giaccone, Francesco Perini, Giacomina Rossi, Mario Salmona, Pedro Piccardo, Bernardino Ghetti, Ronald C. Beavis, Orso Bugiani, Blas Frangione, Frances Prelli

    出版 2001
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  9. 9
    Next generation sequencing for molecular diagnosis of neuromuscular diseases

    Next generation sequencing for molecular diagnosis of neuromuscular diseases 由 Nasim Vasli, Johann Böhm, Stéphanie Le Gras, Jean Muller, Cécile Pizot, Bernard Jost, Andoni Echaniz‐Laguna, Vincent Laugel, Christine Tranchant, Rafaëlle Bernard, Frédéric Plewniak, Serge Vicaire, Nicolas Lévy, Jamel Chelly, Jean‐Louis Mandel, Valérie Biancalana, Jocelyn Laporte

    出版 2012
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  10. 10
    The Rise and Fall of African Rice Cultivation Revealed by Analysis of 246 New Genomes

    The Rise and Fall of African Rice Cultivation Revealed by Analysis of 246 New Genomes 由 Philippe Cubry, Christine Tranchant‐Dubreuil, Anne‐Céline Thuillet, Cécile Monat, Marie-Noëlle Ndjiondjop, Karine Labadie, Corinne Cruaud, Stéfan Engelen, Nora Scarcelli, Bénédicte Rhoné, Concetta Burgarella, Christian Dupuy, Pierre Larmande, Patrick Wincker, Olivier François, François Sabot, Yves Vigouroux

    出版 2018
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  11. 11
    Early‐Onset Parkinsonism Is a Manifestation of the <scp><i>PPP2R5D</i></scp> p.<scp>E200K</scp> Mutation

    Early‐Onset Parkinsonism Is a Manifestation of the <scp><i>PPP2R5D</i></scp> p.<scp>E200K</scp> Mutation 由 Christine Kim, Thomas Wirth, Cécile Hubsch, Andrea H. Németh, Volkan Okur, Mathieu Anheim, Nathalie Drouot, Christine Tranchant, Gabrielle Rudolf, Jamel Chelly, Katrina Tatton‐Brown, Cornelis Blauwendraat, Jean Paul Vonsattel, Etty Cortés, Roy N. Alcalay, Wendy K. Chung

    出版 2020
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  12. 12
    Natural History and Phenotypic Spectrum of <scp>GAA‐<i>FGF14</i></scp> Sporadic Late‐Onset Cerebellar Ataxia (<scp>SCA27B</scp>)

    Natural History and Phenotypic Spectrum of <scp>GAA‐<i>FGF14</i></scp> Sporadic Late‐Onset Cerebellar Ataxia (<scp>SCA27B</scp>) 由 Thomas Wirth, Guillemette Clément, Clarisse Delvallée, Céline Bonnet, Thomas Bogdan, Andra Iosif, Audrey Schalk, Jean‐Baptiste Chanson, David Pellerin, Bernard Brais, Virginie Roth, Marion Wandzel, Marie‐Céline Fleury, Amélie Piton, Nadège Calmels, Izzie Jacques Namer, Stéphane Kremer, Christine Tranchant, M. Renaud, Mathieu Anheim

    出版 2023
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  13. 13
    Mutations of the FHL1 Gene Cause Emery-Dreifuss Muscular Dystrophy

    Mutations of the FHL1 Gene Cause Emery-Dreifuss Muscular Dystrophy 由 Lucie Gueneau, A. Bertrand, Jean‐Philippe Jaïs, Mustafa A. Salih, Tanya Stojkovic, Manfred Wehnert, Maria Hoeltzenbein, Simone Spuler, Shinji Saitoh, Annie Verschueren, Christine Tranchant, Maud Beuvin, Emmanuelle Lacène, Norma B. Romero, Simon Heath, Diana Zélénika, Thomas Voït, B. Eymard, Rabah Ben Yaou, Gisèle Bonne

    出版 2009
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  14. 14
    The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation

    The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation 由 Martial Mallaret, Matthis Synofzik, Jae‐Ho Lee, Cari A. Sagum, Muhammad Mahajnah, Rajech Sharkia, Nathalie Drouot, M. Renaud, Fabrice Klein, Mathieu Anheim, Christine Tranchant, Cyril Mignot, Jean‐Louis Mandel, Mark T. Bedford, Peter Bauer, Mustafa A. Salih, Rebecca Schüle, Lüdger Schöls, C. Marcelo Aldaz, Michel Kœnig

    出版 2013
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  15. 15
    Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect

    Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect 由 Yann Nadjar, Ana Lucia Hütter-Moncada, Philippe Latour, Xavier Ayrignac, Elsa Kaphan, Christine Tranchant, Pascal Cintas, Adrian Degardin, Cyril Goizet, Chloé Laurencin, Lionel Martzolff, Caroline Tilikete, Mathieu Anheim, Bertrand Audoin, Vincent Deramecourt, Thierry Dubard De Gaillarbois, Emmanuel Roze, Foudil Lamari, Marie T. Vanier, Bénédicte Héron

    出版 2018
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  16. 16
    Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes

    Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes 由 Sophie Tézenas du Montcel, F. Clot, M. Vidailhet, Emmanuel Roze, Philippe Damier, C P Jedynak, A. Camuzat, A Lagueny, Laurent Vercueil, Diane Doummar, Lucie Guyant‐Maréchal, J.L. Houéto, G Ponsot, Stéphane Thobois, Marie‐Anne Cournelle, Alexandra Dürr, Franck Durif, Bernard Échenne, Didier Hannequin, Christine Tranchant, Alexis Brice

    出版 2005
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  17. 17
    Contribution of <i>ATXN2</i> intermediary polyQ expansions in a spectrum of neurodegenerative disorders

    Contribution of <i>ATXN2</i> intermediary polyQ expansions in a spectrum of neurodegenerative disorders 由 Serena Lattante, Stéphanie Millecamps, Giovanni Stévanin, Sophie Rivaud-Péchoux, Carine Moigneu, Agnès Camuzat, Sandra da Barroca, Emeline Mundwiller, Philippe Couarch, François Salachas, Didier Hannequin, Vincent Meininger, Florence Pasquier, Danielle Seilhean, Philippe Couratier, Véronique Danel-Brunaud, Muriel Bonnet, Christine Tranchant, Eric LeGuern, Alexis Brice, Isabelle Le Ber, Edor Kabashi

    出版 2014
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  18. 18
    ADCK3, an Ancestral Kinase, Is Mutated in a Form of Recessive Ataxia Associated with Coenzyme Q10 Deficiency

    ADCK3, an Ancestral Kinase, Is Mutated in a Form of Recessive Ataxia Associated with Coenzyme Q10 Deficiency 由 Clotilde Lagier‐Tourenne, Mériem Tazir, Luís C. López, Catarina M. Quinzii, Mirna Assoum, Nathalie Drouot, Cleverson Busso, S. Makri, Lamia Alipacha, Traki Benhassine, Mathieu Anheim, David R. Lynch, Christelle Thibault-Carpentier, Frédéric Plewniak, Laurent Bianchetti, Christine Tranchant, Olivier Poch, Salvatore DiMauro, Jean‐Louis Mandel, Mário H. Barros, Michio Hirano, Michel Kœnig

    出版 2008
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  19. 19
    SCA15 Due to Large ITPR1 Deletions in a Cohort of 333 White Families With Dominant Ataxia

    SCA15 Due to Large ITPR1 Deletions in a Cohort of 333 White Families With Dominant Ataxia 由 Cécilia Marelli, Joyce van de Leemput, Janel O. Johnson, François Tison, Christel Thauvin-Robinet, Fabienne Picard, Christine Tranchant, Dena G. Hernandez, Bernard Huttin, J Boulliat, I Sangla, Christian Marescaux, Serge Brique, Hélène Dollfus, Sampath Arepalli, Isabelle Bénatru, Elisabeth Ollagnon, Sylvie Forlani, John Hardy, Giovanni Stévanin, Alexandra Dürr, Andrew Singleton, Alexis Brice

    出版 2011
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  20. 20
    Increased diagnostic yield in complex dystonia through exome sequencing

    Increased diagnostic yield in complex dystonia through exome sequencing 由 Thomas Wirth, Christine Tranchant, Nathalie Drouot, Boris Keren, Cyril Mignot, Laura Cif, Romain Lefaucheur, Laurence Lion‐François, Aurélie Méneret, Domitille Gras, Emmanuel Roze, Cécile Laroche, Pierre Burbaud, Stéphanie Bannier, Ouhaïd Lagha‐Boukbiza, Marie‐Aude Spitz, Vincent Laugel, Matthieu Béreau, Emmanuelle Ollivier, Patrick Nitschké, Diane Doummar, Gabrielle Rudolf, Mathieu Anheim, Jamel Chelly

    出版 2020
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