Canlyniadau Chwilio - Laporte, Jocelyn

Diagnostic use of Massively Parallel Sequencing in Neuromuscular Diseases: Towards an Integrated Diagnosis gan Biancalana, Valérie, Laporte, Jocelyn

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Endosomal Phosphoinositides and Human Diseases gan Nicot, Anne-Sophie, Laporte, Jocelyn

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T-tubule biogenesis and triad formation in skeletal muscle and implication in human diseases gan Al-Qusairi, Lama, Laporte, Jocelyn

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Centronuclear myopathies under attack: A plethora of therapeutic targets gan Tasfaout, Hichem, Cowling, Belinda S., Laporte, Jocelyn

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Centronuclear (myotubular) myopathy gan Jungbluth, Heinz, Wallgren-Pettersson, Carina, Laporte, Jocelyn

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STIM1/ORAI1 Loss-of-Function and Gain-of-Function Mutations Inversely Impact on SOCE and Calcium Homeostasis and Cause Multi-Systemic Mirror Diseases gan Silva-Rojas, Roberto, Laporte, Jocelyn, Böhm, Johann

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Common Pathogenic Mechanisms in Centronuclear and Myotubular Myopathies and Latest Treatment Advances gan Gómez-Oca, Raquel, Cowling, Belinda S., Laporte, Jocelyn

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Defective Membrane Remodeling in Neuromuscular Diseases: Insights from Animal Models gan Cowling, Belinda S., Toussaint, Anne, Muller, Jean, Laporte, Jocelyn

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Dementia in a Child with Myotubular Myopathy gan McCrea, Heather J., Kretz, Christine, Laporte, Jocelyn, Ment, Laura R.

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Myotubular myopathy caused by multiple abnormal splicing variants in the MTM1 RNA in a patient with a mild phenotype gan Vasli, Nasim, Laugel, Vincent, Böhm, Johann, Lannes, Béatrice, Biancalana, Valérie, Laporte, Jocelyn

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The myotubularin–amphiphysin 2 complex in membrane tubulation and centronuclear myopathies gan Royer, Barbara, Hnia, Karim, Gavriilidis, Christos, Tronchère, Hélène, Tosch, Valérie, Laporte, Jocelyn

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Sequential Actions of Myotubularin Lipid Phosphatases Regulate Endosomal PI(3)P and Growth Factor Receptor Trafficking gan Cao, Canhong, Backer, Jonathan M., Laporte, Jocelyn, Bedrick, Edward J., Wandinger-Ness, Angela

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Mild Functional Differences of Dynamin 2 Mutations Associated to Centronuclear Myopathy and Charcot-Marie-Tooth Peripheral Neuropathy gan Koutsopoulos, Olga S., Koch, Catherine, Tosch, Valerie, Böhm, Johann, North, Kathryn N., Laporte, Jocelyn

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Integrative Data Mining Highlights Candidate Genes for Monogenic Myopathies gan Neto, Osorio Abath, Tassy, Olivier, Biancalana, Valérie, Zanoteli, Edmar, Pourquié, Olivier, Laporte, Jocelyn

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The Phosphoinositide Kinase PIKfyve/Fab1p Regulates Terminal Lysosome Maturation in Caenorhabditis elegans gan Nicot, Anne-Sophie, Fares, Hanna, Payrastre, Bernard, Chisholm, Andrew D., Labouesse, Michel, Laporte, Jocelyn

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From Dynamic Live Cell Imaging to 3D Ultrastructure: Novel Integrated Methods for High Pressure Freezing and Correlative Light-Electron Microscopy gan Spiegelhalter, Coralie, Tosch, Valérie, Hentsch, Didier, Koch, Marc, Kessler, Pascal, Schwab, Yannick, Laporte, Jocelyn

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Pathophysiological Effects of Overactive STIM1 on Murine Muscle Function and Structure gan Silva-Rojas, Roberto, Charles, Anne-Laure, Djeddi, Sarah, Geny, Bernard, Laporte, Jocelyn, Böhm, Johann

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Silencing of the Ca(2+) Channel ORAI1 Improves the Multi-Systemic Phenotype of Tubular Aggregate Myopathy (TAM) and Stormorken Syndrome (STRMK) in Mice gan Silva-Rojas, Roberto, Pérez-Guàrdia, Laura, Lafabrie, Emma, Moulaert, David, Laporte, Jocelyn, Böhm, Johann

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Case report of intrafamilial variability in autosomal recessive centronuclear myopathy associated to a novel BIN1 stop mutation gan Böhm, Johann, Yiş, Uluç, Ortaç, Ragıp, Çakmakçı, Handan, Kurul, Semra Hız, Dirik, Eray, Laporte, Jocelyn

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A Premature Stop Codon in MYO18B is Associated with Severe Nemaline Myopathy with Cardiomyopathy gan Malfatti, Edoardo, Böhm, Johann, Lacène, Emmanuelle, Beuvin, Maud, Guy Brochier, Romero, Norma B., Laporte, Jocelyn

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