Rezultaty - Mandel, Jean-Louis

30 years of repeat expansion disorders: What have we learned and what are the remaining challenges? od Depienne, Christel, Mandel, Jean-Louis

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XLID-Causing Mutations and Associated Genes Challenged in Light of Data From Large-Scale Human Exome Sequencing od Piton, Amélie, Redin, Claire, Mandel, Jean-Louis

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XLID-Causing Mutations and Associated Genes Challenged in Light of Data From Large-Scale Human Exome Sequencing od Piton, Amélie, Redin, Claire, Mandel, Jean-Louis

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JEAN B DAUSSET, 19 OCTOBER 1916–6 JUNE 2009 od Mandel, Jean-Louis, Lathrop, Mark, Cann, Howard M

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A highly conserved protein family interacting with the fragile X mental retardation protein (FMRP) and displaying selective interactions with FMRP-related proteins FXR1P and FXR2P od Schenck, Annette, Bardoni, Barbara, Moro, Annamaria, Bagni, Claudia, Mandel, Jean-Louis

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Cells Lacking the Fragile X Mental Retardation Protein (FMRP) have Normal RISC Activity but Exhibit Altered Stress Granule Assembly od Didiot, Marie-Cécile, Subramanian, Murugan, Flatter, Eric, Mandel, Jean-Louis, Moine, Hervé

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The fragile X mental retardation protein binds specifically to its mRNA via a purine quartet motif od Schaeffer, Céline, Bardoni, Barbara, Mandel, Jean-Louis, Ehresmann, Bernard, Ehresmann, Chantal, Moine, Hervé

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G–quadruplex RNA structure as a signal for neurite mRNA targeting od Subramanian, Murugan, Rage, Florence, Tabet, Ricardos, Flatter, Eric, Mandel, Jean-Louis, Moine, Hervé

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The G-quartet containing FMRP binding site in FMR1 mRNA is a potent exonic splicing enhancer od Didiot, Marie-Cécile, Tian, Zhaoxia, Schaeffer, Céline, Subramanian, Murugan, Mandel, Jean-Louis, Moine, Hervé

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Evolution of the Friedreich’s ataxia trinucleotide repeat expansion: Founder effect and premutations od Cossée, Mireille, Schmitt, Michèle, Campuzano, Victoria, Reutenauer, Laurence, Moutou, Céline, Mandel, Jean-Louis, Koenig, Michel

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The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in mice od Buj-Bello, Anna, Laugel, Vincent, Messaddeq, Nadia, Zahreddine, Hala, Laporte, Jocelyn, Pellissier, Jean-François, Mandel, Jean-Louis

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Disease Progression Despite Early Loss of Polyglutamine Protein Expression in SCA7 Mouse Model od Helmlinger, Dominique, Abou-Sleymane, Gretta, Yvert, Gaël, Rousseau, Stéphane, Weber, Chantal, Trottier, Yvon, Mandel, Jean-Louis, Devys, Didier

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Increased Expression of Wild-Type or a Centronuclear Myopathy Mutant of Dynamin 2 in Skeletal Muscle of Adult Mice Leads to Structural Defects and Muscle Weakness od Cowling, Belinda S., Toussaint, Anne, Amoasii, Leonela, Koebel, Pascale, Ferry, Arnaud, Davignon, Laurianne, Nishino, Ichizo, Mandel, Jean-Louis, Laporte, Jocelyn

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Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation od Marion, Vincent, Stoetzel, Corinne, Schlicht, Dominique, Messaddeq, Nadia, Koch, Michael, Flori, Elisabeth, Danse, Jean Marc, Mandel, Jean-Louis, Dollfus, Hélène

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Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle od Hnia, Karim, Tronchère, Helene, Tomczak, Kinga K., Amoasii, Leonela, Schultz, Patrick, Beggs, Alan H., Payrastre, Bernard, Mandel, Jean Louis, Laporte, Jocelyn

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AAV‐delivered diacylglycerol kinase DGKk achieves long‐term rescue of fragile X syndrome mouse model od Habbas, Karima, Cakil, Oktay, Zámbó, Boglárka, Tabet, Ricardos, Riet, Fabrice, Dembele, Doulaye, Mandel, Jean‐Louis, Hocquemiller, Michaël, Laufer, Ralph, Piguet, Françoise, Moine, Hervé

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Study of large inbred Friedreich ataxia families reveals a recombination between D9S15 and the disease locus od Belal, Samir, Panayides, Kyproula, Sirugo, Giorgio, Hamida, Christiane Ben, Ioannou, Panos, Hentati, Fayçal, Beckmann, Jacques, Koenig, Michel, Mandel, Jean-Louis, Hamida, Mongi Ben, Middleton, Lefkos T.

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Friedreich ataxia in Italian families: Genetic homogeneity and linkage disequilibrium with the marker loci D9S5 and D9S15 od Pandolfo, Massimo, Sirugo, Giorgio, Antonelli, Antonella, Weitnauer, Leonor, Ferretti, Luca, Leone, Maurizio, Dones, Ivano, Cerino, Antonella, Fujita, Ricardo, Hanauer, Andre, Mandel, Jean-Louis, Di Donato, Stefano

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T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase od Al-Qusairi, Lama, Weiss, Norbert, Toussaint, Anne, Berbey, Céline, Messaddeq, Nadia, Kretz, Christine, Sanoudou, Despina, Beggs, Alan H., Allard, Bruno, Mandel, Jean-Louis, Laporte, Jocelyn, Jacquemond, Vincent, Buj-Bello, Anna

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Assessment of a Targeted Gene Panel for Identification of Genes Associated With Movement Disorders od Montaut, Solveig, Tranchant, Christine, Drouot, Nathalie, Rudolf, Gabrielle, Guissart, Claire, Tarabeux, Julien, Stemmelen, Tristan, Velt, Amandine, Fourrage, Cécile, Nitschké, Patrick, Gerard, Bénédicte, Mandel, Jean-Louis, Koenig, Michel, Chelly, Jamel, Anheim, Mathieu

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