نتائج البحث - Sandrine Vuillaumier‐Barrot

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  1. 1
    Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy

    Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy حسب Carmen Barba, Francesca Darra, Raffaella Cusmai, Elena Procopio, Carlo Dionisi‐Vici, Liesbeth Keldermans, Sandrine Vuillaumier‐Barrot, Dirk J. Lefeber, Renzo Guerrini

    منشور في 2016
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    Artigo
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  2. 2
    G894T Polymorphism in the Endothelial Nitric Oxide Synthase Gene Is Associated With an Enhanced Vascular Responsiveness to Phenylephrine

    G894T Polymorphism in the Endothelial Nitric Oxide Synthase Gene Is Associated With an Enhanced Vascular Responsiveness to Phenylephrine حسب Ivan Philip, Gaëtan Plantefève, Sandrine Vuillaumier‐Barrot, Éric Vicaut, Claude Lemarié, Daniel Henrion, Odette Poirier, Bernard Lévy, J. M. Desmonts, Geneviève Durand, Joëlle Bénessiano

    منشور في 1999
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    Artigo
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  3. 3
    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 حسب 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

    منشور في 2016
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    Artigo
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  4. 4
    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) حسب 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

    منشور في 2000
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    Artigo
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  5. 5
    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 حسب 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

    منشور في 2003
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    Artigo
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  6. 6
    Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene

    Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene حسب Nigel F. Clarke, Svetlana Maugenre, Aurélie Vandebrouck, J. Andoni Urtizberea, Tobias Willer, Rachel A. Peat, Françoise Gray, C Bouchet, Hiroshi Manya, Sandrine Vuillaumier‐Barrot, Tamao Endo, Éliane Chouery, Kevin P. Campbell, André Mégarbané, Pascale Guicheney

    منشور في 2011
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    Artigo
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  7. 7
    Consensus guideline for the diagnosis and management of mannose phosphate isomerase‐congenital disorder of glycosylation

    Consensus guideline for the diagnosis and management of mannose phosphate isomerase‐congenital disorder of glycosylation حسب Anna Čechová, Ruqaiah Altassan, Delphine Borgel, Arnaud Bruneel, Joana Correia, M Girard, Annie Harroche, Beata Kieć‐Wilk, Klaus Mohnike, Tiffany Pascreau, Łukasz Pawliński, Silvia Radenkovic, Sandrine Vuillaumier‐Barrot, Luis Aldámiz‐Echevarría, María L. Couce, Esmeralda Martins, Dulce Quelhas, Éva Morava, Pascale de Lonlay, Peter Witters, Tomáš Honzík

    منشور في 2020
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    Revisão
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  8. 8
    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 حسب 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

    منشور في 2001
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    Artigo
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  9. 9
    <scp><i>GGPS1</i></scp>‐associated muscular dystrophy with and without hearing loss

    <scp><i>GGPS1</i></scp>‐associated muscular dystrophy with and without hearing loss حسب Rauan Kaiyrzhanov, Luke Perry, Clarissa Rocca, Maha S. Zaki, Heba Hosny, Cristiane Araújo Martins Moreno, Rahul Phadke, Irina Zaharieva, Clara Camelo Gontijo, Christian Beetz, Veronica Pini, Mojtaba Movahedinia, Edmar Zanoteli, Stephanie DiTroia, Sandrine Vuillaumier‐Barrot, Arnaud Isapof, Mohammad Yahya Vahidi Mehrjardi, Nasrin Ghasemi, Anna Sárközy, Francesco Muntoni, Sandra Whalen, Barbara Vona, Henry Houlden, Reza Maroofian

    منشور في 2022
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    Artigo
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  10. 10
    A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis

    A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis حسب Matthew P. Wilson, Takfarinas Kentache, Charlotte R. Althoff, Céline Schulz, Geoffroy de Bettignies, Garcia Patricia Cabrera, Loreta Cimbalistienė, Birutė Burnytė, Grace Yoon, Gregory Costain, Sandrine Vuillaumier‐Barrot, David Cheillan, Daisy Rymen, Lucie Rychtárová, Hana Hansíková, Marina Bury, Joseph P. Dewulf, Francesco Caligiore, Jaak Jaeken, Vincent Cantagrel, Emile Van Schaftingen, Gert Matthijs, François Foulquier, Guido T. Bommer

    منشور في 2024
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    Artigo
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  11. 11
    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 حسب 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

    منشور في 2012
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    Artigo
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  12. 12
    Molecular heterogeneity in fetal forms of type II lissencephaly

    Molecular heterogeneity in fetal forms of type II lissencephaly حسب 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

    منشور في 2007
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    Artigo
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  13. 13
    Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies

    Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies حسب 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

    منشور في 2012
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    Artigo
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