Ngā hua rapu - Laporte, Jocelyn

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  1. 1
    Diagnostic use of Massively Parallel Sequencing in Neuromuscular Diseases: Towards an Integrated Diagnosis

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

    I whakaputaina 2015
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  2. 2
    Endosomal Phosphoinositides and Human Diseases

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

    I whakaputaina 2008
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  3. 3
    T-tubule biogenesis and triad formation in skeletal muscle and implication in human diseases

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

    I whakaputaina 2011
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  4. 4
    Centronuclear myopathies under attack: A plethora of therapeutic targets

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

    I whakaputaina 2018
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  5. 5
    Centronuclear (myotubular) myopathy

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

    I whakaputaina 2008
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  6. 6
    STIM1/ORAI1 Loss-of-Function and Gain-of-Function Mutations Inversely Impact on SOCE and Calcium Homeostasis and Cause Multi-Systemic Mirror Diseases

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

    I whakaputaina 2020
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  7. 7
    Common Pathogenic Mechanisms in Centronuclear and Myotubular Myopathies and Latest Treatment Advances

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

    I whakaputaina 2021
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  8. 8
    Defective Membrane Remodeling in Neuromuscular Diseases: Insights from Animal Models

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

    I whakaputaina 2012
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  9. 9
    Dementia in a Child with Myotubular Myopathy

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

    I whakaputaina 2009
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  10. 10
    Myotubular myopathy caused by multiple abnormal splicing variants in the MTM1 RNA in a patient with a mild phenotype

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

    I whakaputaina 2012
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  11. 11
    The myotubularin–amphiphysin 2 complex in membrane tubulation and centronuclear myopathies

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

    I whakaputaina 2013
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  12. 12
    Sequential Actions of Myotubularin Lipid Phosphatases Regulate Endosomal PI(3)P and Growth Factor Receptor Trafficking

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

    I whakaputaina 2008
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  13. 13
    Mild Functional Differences of Dynamin 2 Mutations Associated to Centronuclear Myopathy and Charcot-Marie-Tooth Peripheral Neuropathy

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

    I whakaputaina 2011
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  14. 14
    Integrative Data Mining Highlights Candidate Genes for Monogenic Myopathies

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

    I whakaputaina 2014
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  15. 15
    The Phosphoinositide Kinase PIKfyve/Fab1p Regulates Terminal Lysosome Maturation in Caenorhabditis elegans

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

    I whakaputaina 2006
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  16. 16
    From Dynamic Live Cell Imaging to 3D Ultrastructure: Novel Integrated Methods for High Pressure Freezing and Correlative Light-Electron Microscopy

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

    I whakaputaina 2010
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  17. 17
    Pathophysiological Effects of Overactive STIM1 on Murine Muscle Function and Structure

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

    I whakaputaina 2021
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  18. 18
    Silencing of the Ca(2+) Channel ORAI1 Improves the Multi-Systemic Phenotype of Tubular Aggregate Myopathy (TAM) and Stormorken Syndrome (STRMK) in Mice

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

    I whakaputaina 2022
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  19. 19
    Case report of intrafamilial variability in autosomal recessive centronuclear myopathy associated to a novel BIN1 stop mutation

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

    I whakaputaina 2010
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  20. 20
    A Premature Stop Codon in MYO18B is Associated with Severe Nemaline Myopathy with Cardiomyopathy

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

    I whakaputaina 2015
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