Výsledky vyhledávání - Nathalie Seta

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  1. 1
    Protein Glycosylation and Diseases: Blood and Urinary Oligosaccharides as Markers for Diagnosis and Therapeutic Monitoring

    Protein Glycosylation and Diseases: Blood and Urinary Oligosaccharides as Markers for Diagnosis and Therapeutic Monitoring Autor Geneviève Durand, Nathalie Seta

    Vydáno 2000
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  2. 2
    The clinical spectrum of phosphomannose isomerase deficiency, with an evaluation of mannose treatment for CDG-Ib

    The clinical spectrum of phosphomannose isomerase deficiency, with an evaluation of mannose treatment for CDG-Ib Autor Pascale de Lonlay, Nathalie Seta

    Vydáno 2008
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  3. 3
    FRI0401 Initial manifestation determines clinical entity and course in patients with anti-centromere antibody: a single center longitudinal retrospective cohort study

    FRI0401 Initial manifestation determines clinical entity and course in patients with anti-centromere antibody: a single center longitudinal retrospective cohort study Autor Miyo Tsukamoto, Katsuya Suzuki, Nathalie Seta, Tsutomu Takeuchi

    Vydáno 2017
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  4. 4
    Asthma and allergic rhinitis risk depends on house dust mite specific IgE levels in PARIS birth cohort children

    Asthma and allergic rhinitis risk depends on house dust mite specific IgE levels in PARIS birth cohort children Autor Stephan Gabet, Fanny Rancière, J. Just, J. de Blic, Guillaume Lezmi, Flore Amat, Nathalie Seta, Isabelle Momas

    Vydáno 2019
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  5. 5
    A case of fatal Type I congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activity

    A case of fatal Type I congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activity Autor Sahar Sabry, Sandrine Vuillaumier‐Barrot, E. Mintet, Magali Fasseu, Vassili Valayannopoulos, D. Héron, Nathalie Dorison, Cyril Mignot, Nathalie Seta, Isabelle Chantret, Thierry Dupré, Stuart Moore

    Vydáno 2016
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  6. 6
    New <i>POMT2</i> mutations causing congenital muscular dystrophy

    New <i>POMT2</i> mutations causing congenital muscular dystrophy Autor Akiko Yanagisawa, C Bouchet, Peter Van den Bergh, Jean‐Marie Cuisset, Louis Viollet, France Leturcq, Norma B. Romero, Susana Quijano‐Roy, Michel Fardeau, Nathalie Seta, Pascale Guicheney

    Vydáno 2007
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  7. 7
    Congenital disorders of glycosylation (CDG): Quo vadis?

    Congenital disorders of glycosylation (CDG): Quo vadis? Autor Romain Péanne, Pascale de Lonlay, François Foulquier, Uwe Kornak, Dirk J. Lefeber, Éva Morava, Belén Pérez, Nathalie Seta, Christian Thiel, Emile Van Schaftingen, Gert Matthijs, Jaak Jaeken

    Vydáno 2017
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    Revisão
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  8. 8
    Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia)

    Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia) Autor Gert Matthijs, Els Schollen, Cecilia Bjursell, Anna Erlandson, Hudson H. Freeze, Faiqa Imtiaz, Søren K. Kjærgaard, Tommy Martinsson, M. Schwartz, Nathalie Seta, Sandrine Vuillaumier‐Barrot, Vibeke Westphal, Bryan Winchester

    Vydáno 2000
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  9. 9
    A Genome-Wide CRISPR-Cas9 Screen Identifies the Dolichol-Phosphate Mannose Synthase Complex as a Host Dependency Factor for Dengue Virus Infection

    A Genome-Wide CRISPR-Cas9 Screen Identifies the Dolichol-Phosphate Mannose Synthase Complex as a Host Dependency Factor for Dengue Virus Infection Autor Athéna Labeau, Etienne Simon‐Lorière, Mohamed-Lamine Hafirassou, Lucie Bonnet‐Madin, Sarah Tessier, Alessia Zamborlini, Thierry Dupré, Nathalie Seta, Olivier Schwartz, Marie‐Laure Chaix, Constance Delaugerre, Ali Amara, Laurent Meertens

    Vydáno 2020
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  10. 10
    A Deficiency in Dolichyl-P-glucose:Glc1Man9GlcNAc2-PP-dolichyl α3-Glucosyltransferase Defines a New Subtype of Congenital Disorders of Glycosylation

    A Deficiency in Dolichyl-P-glucose:Glc1Man9GlcNAc2-PP-dolichyl α3-Glucosyltransferase Defines a New Subtype of Congenital Disorders of Glycosylation Autor Isabelle Chantret, Julia Dancourt, Thierry Dupré, Christophe Delenda, Stéphanie Bucher, Sandrine Vuillaumier‐Barrot, Hélène Ogier de Baulny, Céline Peletan, Olivier Danos, Nathalie Seta, Geneviève Durand, Rafaël Oriol, Patrice Codogno, Stuart Moore

    Vydáno 2003
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  11. 11
    Long-term follow-up in PMM2-CDG: are we ready to start treatment trials?

    Long-term follow-up in PMM2-CDG: are we ready to start treatment trials? Autor Peter Witters, Tomáš Honzík, Eric Bauchart, Ruqaiah Altassan, Tiffany Pascreau, Arnaud Bruneel, Sandrine Vuillaumier, Nathalie Seta, Delphine Borgel, Gert Matthijs, Jaak Jaeken, Wouter Meersseman, David Cassiman, Lonlay Pascale de, Éva Morava

    Vydáno 2018
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  12. 12
    ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto α-dystroglycan

    ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto α-dystroglycan Autor Isabelle Gerin, Benoît Ury, Isabelle Breloy, C. Bouchet-Séraphin, Jennifer Bolsée, Mathias Halbout, Julie Graff, Didier Vertommen, Giulio G. Muccioli, Nathalie Seta, Jean‐Marie Cuisset, Ivana Dabaj, Susana Quijano‐Roy, Ammi Grahn, Emile Van Schaftingen, Guido T. Bommer

    Vydáno 2016
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  13. 13
    A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases

    A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases Autor Pascale de Lonlay, Nathalie Seta, Sandrine Vuillaumier Barrot, B. Chabrol, Valérie Drouin, Bernard Gabriel, Hubert Journel, M. Kretz, J. Laurent, M. Le Merrer, A. Leroy, D. Pedespan, P. Sardá, Nathalie Villeneuve, J. Schmitz, Emile Van Schaftingen, Gert Matthijs, Jaak Jaeken, Christian Körner, A. Munnich, J. M. Saudubray, Valérie Cormier‐Daire

    Vydáno 2001
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  14. 14
    29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype

    29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype Autor Marie‐Lorraine Monin, Cyril Mignot, Pascale de Lonlay, Bénédicte Héron, Alice Masurel, Michèle Mathieu‐Dramard, C Lenaerts, Christel Thauvin, Marion Gérard, Emmanuel Roze, Aurélia Jacquette, Perrine Charles, Claire De Barace, Valérie Drouin‐Garraud, Philippe Khau Van Kien, Valérie Cormier‐Daire, M. Mayer, Hélène Ogier, Alexis Brice, Nathalie Seta, Delphine Héron

    Vydáno 2014
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  15. 15
    Identification of Mutations in TMEM5 and ISPD as a Cause of Severe Cobblestone Lissencephaly

    Identification of Mutations in TMEM5 and ISPD as a Cause of Severe Cobblestone Lissencephaly Autor Sandrine Vuillaumier‐Barrot, C. Bouchet-Séraphin, M. Chelbi, Louise Devisme, Samuel Quentin, Steven Gazal, Annie Laquerrière, Catherine Fallet‐Bianco, Philippe Loget, Sylvie Odent, Dominique Carles, Anne Bazin, Jacqueline Aziza, Alix Clémenson, Fabien Guimiot, Maryse Bonnière, Sophie Monnot, Christine Bôle‐Feysot, Jean‐Pierre Bernard, Laurence Lœuillet, Marie Gonzalès, Koryna Socha, Bernard Grandchamp, Tania Attié‐Bitach, Férechté Encha‐Razavi, Nathalie Seta

    Vydáno 2012
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  16. 16
    SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects

    SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects Autor Johanne Dubail, Céline Huber, Sandrine Chantepie, Stephan Sonntag, Beyhan Tüysüz, Ercan Mıhçı, Christopher T. Gordon, Elisabeth Steichen‐Gersdorf, Jeanne Amiel, Banu Nur, Irene Stolte‐Dijkstra, Albertien M. van Eerde, Koen L.I. van Gassen, Corstiaan C. Breugem, Alexander P.A. Stegmann, Caroline Lekszas, Reza Maroofian, Ehsan Ghayoor Karimiani, Arnaud Bruneel, Nathalie Seta, Arnold Münnich, Dulce Papy‐Garcia, Muriel De La Dure‐Molla, Valérie Cormier‐Daire

    Vydáno 2018
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  17. 17
    Molecular heterogeneity in fetal forms of type II lissencephaly

    Molecular heterogeneity in fetal forms of type II lissencephaly Autor C Bouchet, M. Gonzalés, Sandrine Vuillaumier‐Barrot, Louise Devisme, C. Lebizec, Elisabeth Alanio, Anne Bazin, B. Bessières-Grattagliano, Nicole Bigi, Patricia Blanchet, Dominique Bonneau, Maryse Bonnières, Dominique Carles, Sophie Delahaye, Catherine Fallet‐Bianco, Dominique Figarella‐Branger, Dominique Gaillard, B. Gasser, Fabien Guimiot, Madeleine Joubert, Nicole Laurent, Agnès Liprandi, Philippe Loget, Pascale Marcorelles, Jéléna Martinovic, F. Menez, Sophie Patrier, Fanny Pelluard-Nehmé, Marie-José Perez, C. Rouleau-Dubois, Stéphane Triau, A. Laquérrière, Férechté Encha‐Razavi, Nathalie Seta

    Vydáno 2007
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  18. 18
    Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies

    Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies Autor Louise Devisme, C Bouchet, Marie Gonzalès, Elisabeth Alanio, Anne Bazin, Bettina Bessières, Nicole Bigi, Patricia Blanchet, Dominique Bonneau, Maryse Bonnières, Martine Bucourt, Dominique Carles, Bénédicte Clarisse, S. Delahaye, Catherine Fallet‐Bianco, Dominique Figarella‐Branger, Dominique Gaillard, Bernard Gasser, Anne‐Lise Delezoide, Fabien Guimiot, Madeleine Joubert, Nicole Laurent, Annie Laquerrière, Agnès Liprandi, Philippe Loget, Pascale Marcorelles, Jéléna Martinovic, Françoise Ménez, Sophie Patrier, Fanny Pelluard, Marie-José Perez, Caroline Rouleau, Stéphane Triau, Tania Attié‐Bitach, Sandrine Vuillaumier‐Barrot, Nathalie Seta, Férechté Encha‐Razavi

    Vydáno 2012
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  19. 19
    ALG6‐CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies

    ALG6‐CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies Autor Éva Morava, Vera Tiemes, Christian Thiel, Nathalie Seta, Pascale de Lonlay, Hans de Klerk, Margot F. Mulder, M. Estela Rubio‐Gozalbo, Gepke Visser, Peter van Hasselt, Dafne D. G. Horovitz, Carolina Fischinger Moura de Souza, Ida Vanessa Döederlein Schwartz, Andrew Green, Mohammed Al‐Owain, Graciella Uziel, Sabine Sigaudy, B. Chabrol, Franc‐Jan van Spronsen, Martin Steinert, Eleni Komini, Donald Wurm, Andrea Bevot, Addelkarim Ayadi, Karin Huijben, Marli Dercksen, Peter Witters, Jaak Jaeken, Gert Matthijs, Dirk J. Lefeber, Ron A. Wevers

    Vydáno 2016
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  20. 20
    Erratum to: ALG6‐CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies

    Erratum to: ALG6‐CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies Autor Éva Morava, Vera Tiemes, Christian Thiel, Nathalie Seta, Pascale de Lonlay, Hans de Klerk, Margot F. Mulder, M. Estela Rubio‐Gozalbo, Gepke Visser, Peter van Hasselt, Dafne D. G. Horovitz, Carolina Fischinger Moura de Souza, Ida Vanessa Döederlein Schwartz, Andrew Green, Mohammed Al‐Owain, Graciella Uziel, Sabine Sigaudy, B. Chabrol, Franc‐Jan van Spronsen, Martin Steinert, Eleni Komini, Donald Wurm, Andrea Bevot, Addelkarim Ayadi, Karin Huijben, Marli Dercksen, Peter Witters, Jaak Jaeken, Gert Matthijs, Dirk J. Lefeber, Ron A. Wevers

    Vydáno 2016
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