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Journal of Cell Science|July 16, 2002
The PtdIns3P phosphatase myotubularin is a cytoplasmic protein that also localizes to Rac1-inducible plasma membrane rufflesJocelyn Laporte, Francois Blondeau, Anne Gansmuller, et al.
American Journal of Medical Genetics. Part A|April 11, 2016
Novel de novo mutations in ZBTB20 in Primrose syndrome with congenital hypothyroidismFrancesca Mattioli, Amelie Piton, Bénédicte Gérard, et al.
Nucleic Acids Research|July 26, 2008
The G-quartet containing FMRP binding site in FMR1 mRNA is a potent exonic splicing enhancerMarie-Cécile Didiot, Zhaoxia Tian, Céline Schaeffer, et al.
Human Molecular Genetics|December 10, 2002
Progressive retinal degeneration and dysfunction in R6 Huntington's disease miceDominique Helmlinger, Gaël Yvert, Serge Picaud, et al.
European Journal of Human Genetics : EJHG|December 25, 2003
Difficulties of genetic counseling and prenatal diagnosis in a consanguineous couple segregating for the same translocation (14;15) (q11;q13) and at risk for Prader-Willi and Angelman syndromesElisabeth Flori, Valérie Biancalana, Françoise Girard-Lemaire, et al.
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|May 23, 2013
Lack of myotubularin (MTM1) leads to muscle hypotrophy through unbalanced regulation of the autophagy and ubiquitin-proteasome pathwaysLama Al-Qusairi, Ivana Prokic, Leonela Amoasii, et al.
The Journal of Biological Chemistry|December 9, 2003
Production of phosphatidylinositol 5-phosphate by the phosphoinositide 3-phosphatase myotubularin in mammalian cellsHélène Tronchère, Jocelyn Laporte, Caroline Pendaries, et al.
Clinical Genetics|July 13, 2022
Neurocognitive and neurobehavioral characterization of two frequent forms of neurodevelopmental disorders: the DYRK1A and the Wiedemann-Steiner syndromesBenjamin Durand, Elise Schaefer, Pauline Burger, et al.
Proceedings of the National Academy of Sciences of the United States of America|October 23, 2002
The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in miceAnna Buj-Bello, Vincent Laugel, Nadia Messaddeq, et al.
Developmental Biology|September 24, 2004
WAVE/SCAR, a multifunctional complex coordinating different aspects of neuronal connectivityAnnette Schenck, Abrar Qurashi, Pilar Carrera, et al.
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