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EMBO Reports|May 14, 2011
G-quadruplex RNA structure as a signal for neurite mRNA targetingMurugan Subramanian, Florence Rage, Ricardos Tabet, et al.Human Molecular Genetics|March 5, 2002
Late onset neurological phenotype of the X-ALD gene inactivation in mice: a mouse model for adrenomyeloneuropathyAurora Pujol, Colette Hindelang, Noëlle Callizot, et al.Journal of Neurodevelopmental Disorders|May 19, 2025
Contribution of families using the GenIDA database to the description of MED13L syndrome and literature reviewRoseline Caumes, Pauline Burger, Jean-Louis Mandel, et al.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.Pageof 19