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Biochimica Et Biophysica Acta. Molecular Basis of Disease|April 10, 2017
NCLs and ER: A stressful relationshipDavide Marotta, Elisa Tinelli, Sara E MoleHuman Molecular Genetics|July 2, 2013
Muscle-specific function of the centronuclear myopathy and Charcot-Marie-Tooth neuropathy-associated dynamin 2 is required for proper lipid metabolism, mitochondria, muscle fibers, neuromuscular junctions and peripheral nervesElisa Tinelli, Jorge A Pereira, Ueli SuterScientific Reports|March 19, 2021
Global network analysis in Schizosaccharomyces pombe reveals three distinct consequences of the common 1-kb deletion causing juvenile CLN3 diseaseChristopher J Minnis, StJohn Townsend, Julia Petschnigg, et al.Human Molecular Genetics|March 3, 2011
P0S63del impedes the arrival of wild-type P0 glycoprotein to myelin in CMT1B micePietro Fratta, Paola Saveri, Desiree Zambroni, et al.Neuron|February 8, 2008
Ablation of the UPR-mediator CHOP restores motor function and reduces demyelination in Charcot-Marie-Tooth 1B miceMaria Pennuto, Elisa Tinelli, Mariachiara Malaguti, et al.Brain : a Journal of Neurology|March 28, 2012
Dynamin 2 mutations in Charcot-Marie-Tooth neuropathy highlight the importance of clathrin-mediated endocytosis in myelinationPáris N M Sidiropoulos, Michaela Miehe, Thomas Bock, et al.Human Molecular Genetics|March 5, 2020
Mice carrying an analogous heterozygous dynamin 2 K562E mutation that causes neuropathy in humans develop predominant characteristics of a primary myopathyJorge A Pereira, Joanne Gerber, Monica Ghidinelli, et al.The Journal of Neuroscience : the Official Journal of the Society for Neuroscience|February 24, 2006
Different intracellular pathomechanisms produce diverse Myelin Protein Zero neuropathies in transgenic miceLawrence Wrabetz, Maurizio D'Antonio, Maria Pennuto, et al.The Journal of Cell Biology|February 14, 2018
De novo fatty acid synthesis by Schwann cells is essential for peripheral nervous system myelinationLaura Montani, Jorge A Pereira, Camilla Norrmén, et al.Elife|January 17, 2019
Schwann cells, but not Oligodendrocytes, Depend Strictly on Dynamin 2 FunctionDaniel Gerber, Monica Ghidinelli, Elisa Tinelli, et al.Pageof 2