Výsledky vyhledávání - Yoann Saillour

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  1. 1
    Single-cell transcriptomics of the early developing mouse cerebral cortex disentangle the spatial and temporal components of neuronal fate acquisition

    Single-cell transcriptomics of the early developing mouse cerebral cortex disentangle the spatial and temporal components of neuronal fate acquisition Autor Matthieu X. Moreau, Yoann Saillour, Andrzej Cwetsch, Alessandra Pierani, Frédéric Causeret

    Vydáno 2021
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  2. 2
    Neuropathological phenotype of a distinct form of lissencephaly associated with mutations in TUBA1A

    Neuropathological phenotype of a distinct form of lissencephaly associated with mutations in TUBA1A Autor Catherine Fallet‐Bianco, Laurence Lœuillet, Karine Poirier, Philippe Loget, Françoise Chapon, Laurent Pasquier, Yoann Saillour, Chérif Beldjord, Jamel Chelly, Fiona Francis

    Vydáno 2008
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  3. 3
    Branching and nucleokinesis defects in migrating interneurons derived from doublecortin knockout mice

    Branching and nucleokinesis defects in migrating interneurons derived from doublecortin knockout mice Autor Caroline Kappeler, Yoann Saillour, Jean‐Pierre Baudoin, Françoise Phan Dinh Tuy, Chantal Alvarez, Christophe Houbron, Patrícia Gaspar, Ghislaine Hamard, Jamel Chelly, Christine Métin, Fiona Francis

    Vydáno 2006
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  4. 4
    The X-Linked Intellectual Disability Protein IL1RAPL1 Regulates Dendrite Complexity

    The X-Linked Intellectual Disability Protein IL1RAPL1 Regulates Dendrite Complexity Autor Caterina Montani, Mariana Ramos-Brossier, Luisa Ponzoni, Laura Gritti, Andrzej Cwetsch, Daniela Braida, Yoann Saillour, Benedetta Terragni, Massimo Mantegazza, Mariaelvina Sala, Chiara Verpelli, Pierre Billuart, Carlo Sala

    Vydáno 2017
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  5. 5
    Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria

    Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria Autor Karine Poirier, Yoann Saillour, Franck J. Fourniol, Fiona Francis, Isabelle Souville, Stéphanie Valence, Isabelle Desguerre, Jean Marie Lepage, Nathalie Boddaert, Marine Line Jacquemont, Chérif Beldjord, Jamel Chelly, Nadia Bahi‐Buisson

    Vydáno 2012
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  6. 6
    The wide spectrum of tubulinopathies: what are the key features for the diagnosis?

    The wide spectrum of tubulinopathies: what are the key features for the diagnosis? Autor Nadia Bahi‐Buisson, Karine Poirier, Franck J. Fourniol, Yoann Saillour, Stéphanie Valence, Nicolas Lebrun, Marie Hully, Catherine Fallet Bianco, Nathalie Boddaert, Caroline Elie, Karine Lascelles, Isabelle Souville, Chérif Beldjord, Jamel Chelly

    Vydáno 2014
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  7. 7
    Mutations in the AP1S2 gene encoding the sigma 2 subunit of the adaptor protein 1 complex are associated with syndromic X-linked mental retardation with hydrocephalus and calcifications in basal ganglia

    Mutations in the AP1S2 gene encoding the sigma 2 subunit of the adaptor protein 1 complex are associated with syndromic X-linked mental retardation with hydrocephalus and calcifica... Autor Yoann Saillour, Ginevra Zanni, V. des Portes, D. Héron, Laurent Guibaud, M T Iba-Zizen, Jean‐Michel Pédespan, Karine Poirier, L. Castelnau, Cédric Julien, C Franconnet, David T. Bonthron, Mary Porteous, Jamel Chelly, Thierry Bienvenu

    Vydáno 2007
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  8. 8
    Altered microtubule dynamics and vesicular transport in mouse and human MeCP2-deficient astrocytes

    Altered microtubule dynamics and vesicular transport in mouse and human MeCP2-deficient astrocytes Autor Chloé Delépine, Hamid Méziane, Juliette Nectoux, Matthieu Opitz, Amos B. Smith, Carlo Ballatore, Yoann Saillour, Annelise Bennaceur‐Griscelli, Qiang Chang, Emily Cunningham Williams, Maxime Dahan, Aurélien Duboin, Pierre Billuart, Yann Hérault, Thierry Bienvenu

    Vydáno 2015
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  9. 9
    Mutations in the neuronal β-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects

    Mutations in the neuronal β-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects Autor Karine Poirier, Yoann Saillour, Nadia Bahi‐Buisson, Xavier H. Jaglin, Catherine Fallet‐Bianco, Rima Nabbout, Laëtitia Castelnau-Ptakhine, Agathe Roubertie, Tania Attié‐Bitach, Isabelle Desguerre, David Geneviève, Christine Barnérias, Boris Keren, Nicolas Lebrun, Nathalie Boddaert, Férechté Encha‐Razavi, Jamel Chelly

    Vydáno 2010
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  10. 10
    Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression

    Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression Autor F. Daoud, Nathalie Angeard, B. Demerre, I. Martie, Rabah Ben Yaou, France Leturcq, Mireille Cossée, Nathalie Deburgrave, Yoann Saillour, Sylvie Tuffery‐Giraud, Andoni Urtizberea, Annick Toutain, Bernard Échenne, M. Frischman, M. Mayer, Isabelle Desguerre, B. Estournet, Christian Réveillère, Penisson-Besnier, J. Cuisset, Josseline Kaplan, D. Héron, François Rivier, Jamel Chelly

    Vydáno 2009
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  11. 11
    LIS1-Related Isolated Lissencephaly

    LIS1-Related Isolated Lissencephaly Autor Yoann Saillour, Nathalie Carion, Chloé Quēlin, Pierre‐Louis Léger, Nathalie Boddaert, Caroline Elie, Annick Toutain, Sandra Mercier, Marie Anne Barthez, Mathieu Milh, Sylvie Joriot, Vincent des Portes, Nicole Philip, D Broglin, Agathe Roubertie, G. Pitelet, Marie Laure Moutard, J.-M. Pinard, Clément Cancès, Claude Cancès, Anna Kaminśka, Jamel Chelly, Chérif Beldjord, Nadia Bahi‐Buisson

    Vydáno 2009
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  12. 12
    Mutations in the β-tubulin gene TUBB2B result in asymmetrical polymicrogyria

    Mutations in the β-tubulin gene TUBB2B result in asymmetrical polymicrogyria Autor Xavier H. Jaglin, Karine Poirier, Yoann Saillour, Emmanuelle Buhler, Guoling Tian, Nadia Bahi‐Buisson, Catherine Fallet‐Bianco, Françoise Phan-Dinh-Tuy, Xiang‐Peng Kong, Pascale Bomont, Laëtitia Castelnau-Ptakhine, Sylvie Odent, Philippe Loget, Manoëlle Kossorotoff, I. Snoeck, Ghislaine Plessis, Philippe Parent, Chérif Beldjord, Carlos Cardoso, Alfonso Represa, Jonathan Flint, David A. Keays, Nicholas J. Cowan, Jamel Chelly

    Vydáno 2009
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  13. 13
    Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (<i>TUBA1A</i>)

    Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (<i>TUBA1A</i>) Autor Karine Poirier, David A. Keays, Fiona Francis, Yoann Saillour, Nadia Bahi, Sylvie Manouvrier, Catherine Fallet‐Bianco, Laurent Pasquier, Annick Toutain, Françoise Phan Dinh Tuy, Thierry Bienvenu, Sylvie Joriot, Sylvie Odent, Dorothée Ville, Isabelle Desguerre, Alice Goldenberg, Marie‐Laure Moutard, Jean‐Pierre Fryns, Hilde Van Esch, Victoria L. Harvey, Christian Siebold, Jonathan Flint, Chérif Beldjord, Jamel Chelly

    Vydáno 2007
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  14. 14
    Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly

    Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly Autor Karine Poirier, Nicolas Lebrun, Loïc Broix, Guoling Tian, Yoann Saillour, Cécile Boscheron, Elena Parrini, Stéphanie Valence, Benjamin Saint Pierre, Madison Oger, Didier Lacombe, David Geneviève, Elena Fontana, Francesca Darra, Claude Cancès, Magalie Barth, Dominique Bonneau, Bernardo Dalla Bernadina, Sylvie Nguyen, Cyril Gitiaux, Philippe Parent, Vincent des Portes, Jean Michel Pedespan, Victoire Legrez, Laetitia Castelnau-Ptakine, Patrick Nitschké, Thierry Hieu, Cécile Masson, Diana Zélénika, Annie Andrieux, Fiona Francis, Renzo Guerrini, Nicholas J. Cowan, Nadia Bahi‐Buisson, Jamel Chelly

    Vydáno 2013
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  15. 15
    Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium

    Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium Autor Arjan P.M. de Brouwer, Helger G. Yntema, Tjitske Kleefstra, Dorien Lugtenberg, Astrid Oudakker, Bert B.A. de Vries, Hans van Bokhoven, Hilde Van Esch, Suzanna G.M. Frints, Guy Froyen, Jean‐Pierre Fryns, Martine Raynaud, Marie‐Pierre Moizard, Nathalie Ronce, Anissa Bensalem, Claude Moraine, Karine Poirier, L. Castelnau, Yoann Saillour, Thierry Bienvenu, Chérif Beldjord, Vincent des Portes, Jamel Chelly, Gillian Turner, Tod Fullston, Jozef Gécz, Andreas W. Kuß, Andreas Tzschach, Lars Riff Jensen, Steffen Lenzner, Vera M. Kalscheuer, Hans‐Hilger Ropers, Ben C.J. Hamel

    Vydáno 2007
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  16. 16
    Mutations in the HECT domain of NEDD4L lead to AKT–mTOR pathway deregulation and cause periventricular nodular heterotopia

    Mutations in the HECT domain of NEDD4L lead to AKT–mTOR pathway deregulation and cause periventricular nodular heterotopia Autor Loïc Broix, Hélène Jagline, Ekaterina L. Ivanova, Stéphane Schmucker, Nathalie Drouot, Jill Clayton‐Smith, Alistair T. Pagnamenta, Kay Metcalfe, Bertrand Isidor, Ulrike Walther Louvier, Annapurna Poduri, Jenny C. Taylor, Peggy Tilly, Karine Poirier, Yoann Saillour, Nicolas Lebrun, Tristan Stemmelen, Gabrielle Rudolf, Giuseppe Muraca, Benjamin Saintpierre, Adrienne Elmorjani, Martin Moïse, Nathalie Bednarek Weirauch, Renzo Guerrini, Anne Boland, Robert Olaso, Cécile Masson, Ratna Tripathy, David A. Keays, Chérif Beldjord, Laurent Nguyen, Juliette D. Godin, Usha Kini, Patrick Nischké, Jean‐François Deleuze, Nadia Bahi‐Buisson, Izabela Sumara, María-Victoria Hinckelmann, Jamel Chelly

    Vydáno 2016
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