Sökresultat - Judith Melki

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  1. 1
    Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease.

    Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease. av P Burlet, Lydie Bürglen, Olivier Clermont, S. Lefebvre, Louis Viollet, Arnold Münnich, Judith Melki

    Publicerad 1996
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  2. 2
    Mutations of SPG4 are responsible for a loss of function of spastin, an abundant neuronal protein localized in the nucleus

    Mutations of SPG4 are responsible for a loss of function of spastin, an abundant neuronal protein localized in the nucleus av Delphine Charvin, Carmen Cifuentes-Díaz, Núria Fonknechten, V. Joshi, Jamïlé Hazan, Judith Melki, Sandrine Bétuing

    Publicerad 2003
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  3. 3
    Truncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe Arthrogryposis

    Truncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe Arthrogryposis av Dan Mejlachowicz, Flora Nolent, Jérôme Maluenda, Hanitra Ranjatoelina-Randrianaivo, Fabienne Giuliano, Marta Gut, Damien Sternberg, Annie Laquerrière, Judith Melki

    Publicerad 2015
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  4. 4
    Deletion of Murine <i>SMN</i> Exon 7 Directed to Skeletal Muscle Leads to Severe Muscular Dystrophy

    Deletion of Murine <i>SMN</i> Exon 7 Directed to Skeletal Muscle Leads to Severe Muscular Dystrophy av Carmen Cifuentes-Díaz, Tony Frugier, Francesco Danilo Tiziano, Emmanuelle Lacène, Natacha Roblot, Vandana Joshi, Marie Helene Moreau, Judith Melki

    Publicerad 2001
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  5. 5
    Survival motor neuron gene deletion in the arthrogryposis multiplex congenita-spinal muscular atrophy association.

    Survival motor neuron gene deletion in the arthrogryposis multiplex congenita-spinal muscular atrophy association. av Lydie Bürglen, Jeanne Amiel, Louis Viollet, S. Lefebvre, P Burlet, Olivier Clermont, Valérie Raclin, P. Landrieu, Alain Verloès, Arnold Münnich, Judith Melki

    Publicerad 1996
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  6. 6
    Refined Characterization of the Expression and Stability of the SMN Gene Products

    Refined Characterization of the Expression and Stability of the SMN Gene Products av Jérémie Vitte, Coralie Fassier, Francesco Danilo Tiziano, Cécile Dalard, Sabrina Soave, Natacha Roblot, Christine Brahe, Pascale Saugier‐Veber, Jean‐Paul Bonnefont, Judith Melki

    Publicerad 2007
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  7. 7
    Deletion of Murine Smn Exon 7 Directed to Liver Leads to Severe Defect of Liver Development Associated with Iron Overload

    Deletion of Murine Smn Exon 7 Directed to Liver Leads to Severe Defect of Liver Development Associated with Iron Overload av Jérémie Vitte, Bénédicte Davoult, Natacha Roblot, M. Mayer, Vandana Joshi, Sabrina Courageot, François Tronche, Jacqueline Vadrot, Marie Helene Moreau, F Kémény, Judith Melki

    Publicerad 2004
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  8. 8
    Mutations in DDR2 Gene Cause SMED with Short Limbs and Abnormal Calcifications

    Mutations in DDR2 Gene Cause SMED with Short Limbs and Abnormal Calcifications av Ruth Bargal, Valérie Cormier‐Daire, Ziva Ben‐Neriah, Martine Le Merrer, Jacob Sosna, Judith Melki, David Zangen, Sarah Smithson, Zvi Borochowitz, Ruth Belostotsky, Annick Raas‐Rothschild

    Publicerad 2008
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  9. 9
    New Role for Serum Response Factor in Postnatal Skeletal Muscle Growth and Regeneration via the Interleukin 4 and Insulin-Like Growth Factor 1 Pathways

    New Role for Serum Response Factor in Postnatal Skeletal Muscle Growth and Regeneration via the Interleukin 4 and Insulin-Like Growth Factor 1 Pathways av Claude Charvet, Christophe Houbron, Ara Parlakian, Julien Giordani, Charlotte Lahoute, A. Bertrand, Athanassia Sotiropoulos, Laure Renou, Alain Schmitt, Judith Melki, Zhenlin Li, Dominique Daegelen, David Tuil

    Publicerad 2006
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  10. 10
    Microtubule-targeting drugs rescue axonal swellings in cortical neurons from spastin knock-out mice

    Microtubule-targeting drugs rescue axonal swellings in cortical neurons from spastin knock-out mice av Coralie Fassier, Anne Couturier‐Tarrade, Leticia Peris, Sabrina Courageot, Philippe Mailly, Cécile Dalard, Stéphanie Delga, Natacha Roblot, Julien Lefèvre, Didier Job, Jamïlé Hazan, Patrick A. Curmi, Judith Melki

    Publicerad 2012
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  11. 11
    Loss of function mutations in EPHB4 are responsible for vein of Galen aneurysmal malformation

    Loss of function mutations in EPHB4 are responsible for vein of Galen aneurysmal malformation av Alexandre Vivanti, Augustin Ozanne, Cynthia Grondin, Guillaume Saliou, Loïc Quevarec, Hélène Maurey, Patrick Aubourg, Alexandra Benachi, Marta Gut, Marta Gut, Jéléna Martinovic, Marie Victoire Sénat, Marcel Tawk, Judith Melki

    Publicerad 2018
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  12. 12
    A mutation of spastin is responsible for swellings and impairment of transport in a region of axon characterized by changes in microtubule composition

    A mutation of spastin is responsible for swellings and impairment of transport in a region of axon characterized by changes in microtubule composition av Anne Couturier‐Tarrade, Coralie Fassier, Sabrina Courageot, Delphine Charvin, Jérémie Vitte, Leticia Peris, Alain Thorel, Étienne Mouisel, Núria Fonknechten, Natacha Roblot, Danielle Seilhean, Andrée Dierich, Jean Jacques Hauw, Judith Melki

    Publicerad 2006
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  13. 13
    Intact satellite cells lead to remarkable protection against <i>Smn</i> gene defect in differentiated skeletal muscle

    Intact satellite cells lead to remarkable protection against <i>Smn</i> gene defect in differentiated skeletal muscle av Sophie Nicole, Bénédicte Desforges, Gaëlle Millet, J.-C. Lesbordes, Carmen Cifuentes-Díaz, Dora Vertes, My Linh Cao, Fabienne De Backer, Laetitia Languille, Natacha Roblot, Vandana Joshi, Jean‐Marie Gillis, Judith Melki

    Publicerad 2003
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  14. 14
    Identification and characterization of a spinal muscular atrophy-determining gene

    Identification and characterization of a spinal muscular atrophy-determining gene av Suzie Lefebvre, Lydie Bürglen, Sophie Reboullet, Olivier Clermont, Philippe Burlet, Louis Viollet, Bernard Bénichou, Corinne Cruaud, Philippe Millasseau, Massimo Zeviani, Denis Le Paslier, J Frézal, Daniel Cohen, Jean Weissenbach, Arnold Münnich, Judith Melki

    Publicerad 1995
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  15. 15
    Amniotic Fluid Stem Cells Restore the Muscle Cell Niche in a <i>HSA‐Cre</i> , <i> Smn <sup>F7/F7</sup> </i> Mouse Model

    Amniotic Fluid Stem Cells Restore the Muscle Cell Niche in a <i>HSA‐Cre</i> , <i> Smn <sup>F7/F7</sup> </i> Mouse Model av Martina Piccoli, Chiara Franzin, Enrica Bertin, Luca Urbani, Bert Blaauw, Andrea Repele, Elisa Taschin, Angelo Cenedese, Giovanni Franco Zanon, Isabelle André‐Schmutz, Antonio Rosato, Judith Melki, Marina Cavazzana, Michela Pozzobon, Paolo De Coppi

    Publicerad 2012
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  16. 16
    Mutations in GLDN , Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal Arthrogryposis

    Mutations in GLDN , Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal Arthrogryposis av Jérôme Maluenda, Constance Manso, Loïc Quevarec, Alexandre Vivanti, Florent Marguet, Marie Gonzalès, Fabien Guimiot, Florence Petit, Annick Toutain, Sandra Whalen, R Grigorescu, Anne Dieux Coeslier, Marta Gut, Marta Gut, Annie Laquerrière, Jérôme Devaux, Judith Melki

    Publicerad 2016
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  17. 17
    Spinal Muscular Atrophy Associated with Progressive Myoclonic Epilepsy Is Caused by Mutations in ASAH1

    Spinal Muscular Atrophy Associated with Progressive Myoclonic Epilepsy Is Caused by Mutations in ASAH1 av Jianping Zhou, Marcel Tawk, Francesco Danilo Tiziano, Julien Veillet, Mónica Bayés, Flora Nolent, Virginie Garcia, Serenella Servidei, Enrico Bertini, Francesc Castro-Giner, Yavuz Renda, Stéphane Carpentier, Nathalie Andrieu‐Abadie, Marta Gut, Thierry Levade, Haluk Topaloğlu, Judith Melki

    Publicerad 2012
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  18. 18
    A mutation in the gene coding for the sialic acid transporter SLC35A1 is required for platelet life span but not proplatelet formation

    A mutation in the gene coding for the sialic acid transporter SLC35A1 is required for platelet life span but not proplatelet formation av Alexandre Kauskot, Tiffany Pascreau, Frédéric Adam, Arnaud Bruneel, Christelle Repérant, Marc-Damien Lourenco-Rodrigues, Jean‐Philippe Rosa, Rachel Petermann, Hélène Maurey, Claire Auditeau, Dominique Lasne, Cécile V. Denis, Marijke Bryckaert, Pascale de Lonlay, Cécile Lavenu‐Bombled, Judith Melki, Delphine Borgel

    Publicerad 2018
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  19. 19
    The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis

    The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis av Klaus Dieterich, Susana Quijano-Roy, Nicole Monnier, Jie Zhou, Julien Fauré, Daniela Avila‐Smirnow, Robert Carlier, Cécile Laroche, Pascale Marcorelles, Sandra Mercier, André Mégarbané, Sylvie Odent, Norma B. Romero, Damien Sternberg, Isabelle Marty, B. Estournet, Pierre‐Simon Jouk, Judith Melki, Joël Lunardi

    Publicerad 2012
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  20. 20
    Germline and somatic genetic variations of TNFAIP3 in lymphoma complicating primary Sjögren’s syndrome

    Germline and somatic genetic variations of TNFAIP3 in lymphoma complicating primary Sjögren’s syndrome av Gaétane Nocturne, Saida Boudaoud, Corinne Miceli‐Richard, Say Viengchareun, Thierry Lazure, Joanne Nititham, Kimberly E. Taylor, Averil Ma, Florence Busato, Judith Melki, Christopher J. Lessard, Kathy L. Sivils, Jean‐Jacques Dubost, É. Hachulla, Jacques Éric Gottenberg, Marc Lombès, Jörg Tost, Lindsey A. Criswell, Xavier Mariette

    Publicerad 2013
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