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PRRT2 mutations and paroxysmal disorders.
Méneret A, Gaudebout C, Riant F, Vidailhet M, Depienne C, Roze E. Méneret A, et al. Among authors: depienne c. Eur J Neurol. 2013 Jun;20(6):872-8. doi: 10.1111/ene.12104. Epub 2013 Feb 9. Eur J Neurol. 2013. PMID: 23398397 Review.
Mutations in the SPG3A gene encoding the GTPase atlastin interfere with vesicle trafficking in the ER/Golgi interface and Golgi morphogenesis.
Namekawa M, Muriel MP, Janer A, Latouche M, Dauphin A, Debeir T, Martin E, Duyckaerts C, Prigent A, Depienne C, Sittler A, Brice A, Ruberg M. Namekawa M, et al. Among authors: depienne c. Mol Cell Neurosci. 2007 May;35(1):1-13. doi: 10.1016/j.mcn.2007.01.012. Epub 2007 Jan 26. Mol Cell Neurosci. 2007. PMID: 17321752
Mental deficiency in three families with SPG4 spastic paraplegia.
Ribaï P, Depienne C, Fedirko E, Jothy AC, Viveweger C, Hahn-Barma V, Brice A, Durr A. Ribaï P, et al. Among authors: depienne c. Eur J Hum Genet. 2008 Jan;16(1):97-104. doi: 10.1038/sj.ejhg.5201922. Epub 2007 Oct 24. Eur J Hum Genet. 2008. PMID: 17957230
Hereditary spastic paraplegias: an update.
Depienne C, Stevanin G, Brice A, Durr A. Depienne C, et al. Curr Opin Neurol. 2007 Dec;20(6):674-80. doi: 10.1097/WCO.0b013e3282f190ba. Curr Opin Neurol. 2007. PMID: 17992088 Review.
183 results