Search Results - Vincent Cantagrel

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  1. 1
    Disruption of a new X linked gene highly expressed in brain in a family with two mentally retarded males

    Disruption of a new X linked gene highly expressed in brain in a family with two mentally retarded males by Vincent Cantagrel

    Published 2004
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  2. 2
    From glycosylation disorders to dolichol biosynthesis defects: a new class of metabolic diseases

    From glycosylation disorders to dolichol biosynthesis defects: a new class of metabolic diseases by Vincent Cantagrel, Dirk J. Lefeber

    Published 2011
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  3. 3
    High N-glycan multiplicity is critical for neuronal adhesion and sensitizes the developing cerebellum to N-glycosylation defect

    High N-glycan multiplicity is critical for neuronal adhesion and sensitizes the developing cerebellum to N-glycosylation defect by Daniel Medina-Cano, Ekin Ucuncu, Lam Son Nguyen, Michaël Nicouleau, Joanna Lipecka, Jean‐Charles Bizot, Christian Thiel, François Foulquier, Nathalie Lefort, Catherine Faivre‐Sarrailh, Laurence Colleaux, Ida Chiara Guerrera, Vincent Cantagrel

    Published 2018
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  4. 4
    Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity

    Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity by Sophie Thomas, Vincent Cantagrel, Laura Mariani, Valérie Serre, Jieun Lee, Nadia Elkhartoufi, Pascale de Lonlay, Isabelle Desguerre, Arnold Münnich, Nathalie Boddaert, Stanislas Lyonnet, Michel Vekemans, Steven Lisgo, Tamara Caspary, Joseph G. Gleeson, Tania Attié‐Bitach

    Published 2014
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  5. 5
    Mutations in LAMB1 Cause Cobblestone Brain Malformation without Muscular or Ocular Abnormalities

    Mutations in LAMB1 Cause Cobblestone Brain Malformation without Muscular or Ocular Abnormalities by Farid Radmanesh, Ahmet Okay Çağlayan, Jennifer L. Silhavy, Cahide Yılmaz, Vincent Cantagrel, Tarek Omar, Başak Rosti, Hande Kaymakçalan, Stacey Gabriel, Mingfeng Li, Nenad Šestan, Kaya Bilgüvar, William B. Dobyns, Maha S. Zaki, Murat Günel, Joseph G. Gleeson

    Published 2013
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  6. 6
    Mutations in the Glycosylphosphatidylinositol Gene PIGL Cause CHIME Syndrome

    Mutations in the Glycosylphosphatidylinositol Gene PIGL Cause CHIME Syndrome by Bobby G. Ng, Karl Hackmann, Melanie A. Jones, Alexey M. Eroshkin, Ping He, Roy Wiliams, Shruti Bhide, Vincent Cantagrel, Joseph G. Gleeson, Amy S. Paller, Rhonda E. Schnur, Sigrid Tinschert, Janice Zunich, Madhuri Hegde, Hudson H. Freeze

    Published 2012
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  7. 7
    Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population

    Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population by Hisham Megahed, Michaël Nicouleau, Giulia Barcia, Daniel Medina-Cano, Karine Siquier-Pernet, Christine Bôle‐Feysot, Mélanie Parisot, Cécile Masson, Patrick Nitschké, Marlène Rio, Nadia Bahi‐Buisson, Isabelle Desguerre, Arnold Münnich, Nathalie Boddaert, Laurence Colleaux, Vincent Cantagrel

    Published 2016
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  8. 8
    Faulty Initiation of Proteoglycan Synthesis Causes Cardiac and Joint Defects

    Faulty Initiation of Proteoglycan Synthesis Causes Cardiac and Joint Defects by Sevjidmaa Baasanjav, Lihadh Al‐Gazali, Taishi Hashiguchi, Shuji Mizumoto, Bjoern Fischer, Denise Horn, Dominik Seelow, Bassam R. Ali, Samir Aziz, Ruth Langer, Ahmed A.H. Saleh, Christian Becker, Gudrun Nürnberg, Vincent Cantagrel, Joseph G. Gleeson, Delphine Gomez, Jean‐Baptiste Michel, Sigmar Stricker, Tom H. Lindner, Peter Nürnberg, Kazuyuki Sugahara, Stefan Mundlos, Katrin Hoffmann

    Published 2011
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  9. 9
    A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis

    A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis by 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

    Published 2024
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  10. 10
    Mutations in the Cilia Gene ARL13B Lead to the Classical Form of Joubert Syndrome

    Mutations in the Cilia Gene ARL13B Lead to the Classical Form of Joubert Syndrome by Vincent Cantagrel, Jennifer L. Silhavy, Stephanie Bielas, Dominika Swistun, Sarah Marsh, Julien Bertrand, Sophie Audollent, Tania Attié‐Bitach, Kenton R. Holden, William B. Dobyns, David Traver, Lihadh Al‐Gazali, Bassam R. Ali, Tom H. Lindner, Tamara Caspary, Edgar A. Otto, Friedhelm Hildebrandt, Ian Glass, Clare V. Logan, Colin A. Johnson, Christopher Bennett, Francesco Brancati, Enza Maria Valente, C. Geoffrey Woods, Joseph G. Gleeson

    Published 2008
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  11. 11
    De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene

    De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene by Jean Chemin, Karine Siquier-Pernet, Michaël Nicouleau, Giulia Barcia, Ali Ahmad, Daniel Medina-Cano, Sylvain Hanein, Nami Altin, Laurence Hubert, Christine Bôle‐Feysot, Cécile Fourage, Patrick Nitschké, Julien Thévenon, Marlène Rio, Pierre Blanc, Céline Vidal, Nadia Bahi‐Buisson, Isabelle Desguerre, Arnold Münnich, Stanislas Lyonnet, Nathalie Boddaert, Emily Fassi, Marwan Shinawi, Holly H. Zimmerman, Jeanne Amiel, Laurence Faivre, Laurence Colleaux, Philippe Lory, Vincent Cantagrel

    Published 2018
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  12. 12
    AMPD2 Regulates GTP Synthesis and Is Mutated in a Potentially Treatable Neurodegenerative Brainstem Disorder

    AMPD2 Regulates GTP Synthesis and Is Mutated in a Potentially Treatable Neurodegenerative Brainstem Disorder by Naiara Akizu, Vincent Cantagrel, Jana Schroth, Na Cai, Keith K. Vaux, Douglas McCloskey, Robert K. Naviaux, Jeremy Van Vleet, Ali G. Fenstermaker, Jennifer L. Silhavy, Judith Scheliga, Keiko Toyama, Hiroko Morisaki, Fatma Müjgan Sönmez, Figen Celep, Azza Oraby, Maha S. Zaki, Raidah Albaradie, Eissa Faqeih, Mohammed A. Saleh, Emily Spencer, Rasim Özgür Rosti, Eric Scott, Elizabeth Nickerson, Stacey Gabriel, Takayuki Morisaki, Edward W. Holmes, Joseph G. Gleeson

    Published 2013
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  13. 13
    SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder

    SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder by Vincent Cantagrel, Dirk J. Lefeber, Bobby G. Ng, Ziqiang Guan, Jennifer L. Silhavy, Stephanie Bielas, Ludwig Lehle, Hans Hombauer, Maciej Adamowicz, Ewa Świeżewska, Arjan Pm de Brouwer, Peter Blümel, Jolanta Sykut‐Cegielska, Scott Houliston, Dominika Swistun, Bassam R. Ali, William B. Dobyns, Dusica Babovic‐Vuksanovic, Hans van Bokhoven, Ron A. Wevers, Christian R.H. Raetz, Hudson H. Freeze, Éva Morava, Lihadh Al‐Gazali, Joseph G. Gleeson

    Published 2010
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  14. 14
    MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia

    MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia by Ekin Ucuncu, Karthyayani Rajamani, Miranda Wilson, Daniel Medina-Cano, Nami Altin, Pierre David, Giulia Barcia, Nathalie Lefort, Céline Banal, Marie-Thérèse Vasilache-Dangles, Gaële Pitelet, Elsa Lorino, Nathalie Rabasse, Éric Bieth, Maha S. Zaki, Meral Topçu, Fatma Müjgan Sönmez, Damir Musaev, Valentina Stanley, Christine Bôle‐Feysot, Patrick Nitschké, Arnold Münnich, Nadia Bahi‐Buisson, Catherine Fossoud, Fabienne Giuliano, Laurence Colleaux, Lydie Bürglen, Joseph G. Gleeson, Nathalie Boddaert, Adolfo Saiardi, Vincent Cantagrel

    Published 2020
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  15. 15
    A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism

    A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism by Éva Morava, Ron A. Wevers, Vincent Cantagrel, Lies H. Hoefsloot, Lihadh Al‐Gazali, Jeroen Schoots, Arno van Rooij, Karin Huijben, Connie M. A. van Ravenswaaij-Arts, Marjolein Jongmans, Jolanta Sykut‐Cegielska, Georg F. Hoffmann, Peter Bluemel, Maciej Adamowicz, Jeroen van Reeuwijk, Bobby G. Ng, Jorieke E. H. Bergman, Hans van Bokhoven, Christian Körner, Dusica Babovic‐Vuksanovic, Michèl A.A.P. Willemsen, Joseph G. Gleeson, Ludwig Lehle, Arjan P.M. de Brouwer, Dirk J. Lefeber

    Published 2010
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  16. 16
    Genotype-phenotype correlations in individuals with pathogenic<i>RERE</i>variants

    Genotype-phenotype correlations in individuals with pathogenic<i>RERE</i>variants by Valerie K. Jordan, Brieana Fregeau, Xiaoyan Ge, Jessica L. Giordano, Ronald J. Wapner, Tuğçe B. Balcı, Jennefer N. Carter, John Bernat, Amanda Moccia, Anshika Srivastava, Donna M. Martin, Stephanie Bielas, John Pappas, Melissa Svoboda, Marlène Rio, Nathalie Boddaert, Vincent Cantagrel, Andrea M. Lewis, Fernando Scaglia, Jennefer N. Kohler, Jonathan A. Bernstein, Annika M. Dries, Jill A. Rosenfeld, Colette DeFilippo, Willa Thorson, Yaping Yang, Elliott H. Sherr, Weimin Bi, Daryl A. Scott

    Published 2018
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  17. 17
    CLP1 Founder Mutation Links tRNA Splicing and Maturation to Cerebellar Development and Neurodegeneration

    CLP1 Founder Mutation Links tRNA Splicing and Maturation to Cerebellar Development and Neurodegeneration by Ashleigh E. Schaffer, Veerle Rc Eggens, Ahmet Okay Çağlayan, Miriam S. Reuter, Eric Scott, Nicole G. Coufal, Jennifer L. Silhavy, Yuanchao Xue, Hülya Kayserili, Katsuhito Yasuno, Rasim Özgür Rosti, Mostafa Abdellateef, Caner Çağlar, Paul R. Kasher, J. Leonie Cazemier, Marian A. J. Weterman, Vincent Cantagrel, Na Cai, Christiane Zweier, Umut Altunoğlu, N. Bilge Satkin, Fesih Aktar, Beyhan Tüysüz, Cengiz Yalçınkaya, Hüseyîn Çaksen, Kaya Bilgüvar, Xiang‐Dong Fu, Christopher R. Trotta, Stacey Gabriel, André Reis, Murat Günel, Frank Baas, Joseph G. Gleeson

    Published 2014
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  18. 18
    Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders

    Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders by Sónia Barbosa, Stephanie Greville‐Heygate, Maxime Bonnet, Annie Godwin, Christine Fagotto‐Kaufmann, Andrey V. Kajava, Damien Laouteouet, Rebecca Mawby, Htoo A. Wai, Alexander J.M. Dingemans, Jayne Y. Hehir‐Kwa, Marjorlaine Willems, Yline Capri, Sarju Mehta, Helen Cox, David Goudie, Fleur Vansenne, Peter D. Turnpenny, Marie Vincent, Benjamin Cogné, Gaëtan Lesca, Jozef Hertecant, Diana Rodriguez, Boris Keren, Lydie Bürglen, Marion Gérard, Audrey Putoux, Vincent Cantagrel, Karine Siquier-Pernet, Marlène Rio, Siddharth Banka, Ajoy Sarkar, Marcie Steeves, Michael Parker, Emma Clement, Sébastien Moutton, Frédéric Tran Mau‐Them, Amélie Piton, Bert B.A. de Vries, Matthew Guille, Anne Debant, Susanne Schmidt, Diana Baralle

    Published 2020
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  19. 19
    Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

    Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction by Naiara Akizu, Vincent Cantagrel, Maha S. Zaki, Lihadh Al‐Gazali, Xin Wang, Rasim Özgür Rosti, Esra Dikoglu, A. Gélot, Başak Rosti, Keith K. Vaux, Eric Scott, Jennifer L. Silhavy, Jana Schroth, Brett Copeland, Ashleigh E. Schaffer, Philip L.S.M. Gordts, Jeffrey D. Esko, Matthew D. Buschman, Seth J. Field, Gennaro Napolitano, Ghada M. H. Abdel‐Salam, Rıza Köksal Özgül, Mahmut Şamil Sağıroğlu, Matloob Azam, Samira Ismail, Mona Aglan, Laila Selim, Iman G. Mahmoud, Sawsan Abdel-Hadi, Amera El Badawy, Abdelrahim A. Sadek, Faezeh Mojahedi, Hülya Kayserili, Amira Masri, Lailá Bastaki, Samia A. Temtamy, Ulrich Müller, Isabelle Desguerre, Jean‐Laurent Casanova, Ali Dursun, Murat Günel, Stacey Gabriel, Pascale de Lonlay, Joseph G. Gleeson

    Published 2015
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  20. 20
    Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders

    Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders by Holly A.F. Stessman, Marjolein H. Willemsen, Michaela Fencková, Osnat Penn, Alexander Hoischen, Bo Xiong, Tianyun Wang, Kendra Hoekzema, Laura Vives, Ida Vogel, Han G. Brunner, Ineke van der Burgt, Charlotte W. Ockeloen, Janneke Schuurs-Hoeijmakers, Jolien S. Klein Wassink‐Ruiter, Connie T. R. M. Stumpel, Servi J.C. Stevens, Hans S.H. Vles, Carlo Marcelis, Hans van Bokhoven, Vincent Cantagrel, Laurence Colleaux, Michaël Nicouleau, Stanislas Lyonnet, Raphael A. Bernier, Jennifer Gerdts, Bradley P. Coe, Corrado Romano, A Alberti, Lucia Grillo, Carmela Scuderi, Magnus Nordenskjöld, Malin Kvarnung, Hui Guo, Kun Xia, Amélie Piton, Bénédicte Gérard, David Geneviève, Bruno Delobel, Daphné Lehalle, Laurence Perrin, Fabienne Prieur, Julien Thévenon, Jozef Gécz, Marie Shaw, Rolph Pfundt, Boris Keren, Aurélia Jacquette, Annette Schenck, Evan E. Eichler, Tjitske Kleefstra

    Published 2016
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