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Page 1
Case definition and classification of leukodystrophies and leukoencephalopathies.
Vanderver A, Prust M, Tonduti D, Mochel F, Hussey HM, Helman G, Garbern J, Eichler F, Labauge P, Aubourg P, Rodriguez D, Patterson MC, Van Hove JL, Schmidt J, Wolf NI, Boespflug-Tanguy O, Schiffmann R, van der Knaap MS; GLIA Consortium. Vanderver A, et al. Among authors: rodriguez d. Mol Genet Metab. 2015 Apr;114(4):494-500. doi: 10.1016/j.ymgme.2015.01.006. Epub 2015 Jan 29. Mol Genet Metab. 2015. PMID: 25649058 Free PMC article. Review.
Schwann cell expression of PLP1 but not DM20 is necessary to prevent neuropathy.
Shy ME, Hobson G, Jain M, Boespflug-Tanguy O, Garbern J, Sperle K, Li W, Gow A, Rodriguez D, Bertini E, Mancias P, Krajewski K, Lewis R, Kamholz J. Shy ME, et al. Among authors: rodriguez d. Ann Neurol. 2003 Mar;53(3):354-65. doi: 10.1002/ana.10466. Ann Neurol. 2003. PMID: 12601703 Free PMC article.
Ovarian failure related to eukaryotic initiation factor 2B mutations.
Fogli A, Rodriguez D, Eymard-Pierre E, Bouhour F, Labauge P, Meaney BF, Zeesman S, Kaneski CR, Schiffmann R, Boespflug-Tanguy O. Fogli A, et al. Among authors: rodriguez d. Am J Hum Genet. 2003 Jun;72(6):1544-50. doi: 10.1086/375404. Epub 2003 Apr 21. Am J Hum Genet. 2003. PMID: 12707859 Free PMC article.
[eIF2B and Cree Indian leukodystrophies].
Fogli A, Rodriguez D, Eymard-Pierre E, Boespflug-Tanguy O. Fogli A, et al. Among authors: rodriguez d. Med Sci (Paris). 2003 Mar;19(3):283-4. doi: 10.1051/medsci/2003193283. Med Sci (Paris). 2003. PMID: 12836410 Free article. French. No abstract available.
Dominant form of vanishing white matter-like leukoencephalopathy.
Labauge P, Fogli A, Castelnovo G, Le Bayon A, Horzinski L, Nicoli F, Cozzone P, Pagès M, Briere C, Marty-Double C, Delhaume O, Gelot A, Boespflug-Tanguy O, Rodriguez D. Labauge P, et al. Among authors: rodriguez d. Ann Neurol. 2005 Oct;58(4):634-9. doi: 10.1002/ana.20573. Ann Neurol. 2005. PMID: 16047349
Propensity for paternal inheritance of de novo mutations in Alexander disease.
Li R, Johnson AB, Salomons GS, van der Knaap MS, Rodriguez D, Boespflug-Tanguy O, Gorospe JR, Goldman JE, Messing A, Brenner M. Li R, et al. Among authors: rodriguez d. Hum Genet. 2006 Mar;119(1-2):137-44. doi: 10.1007/s00439-005-0116-7. Epub 2005 Dec 20. Hum Genet. 2006. PMID: 16365765
PLP1 and GPM6B intragenic copy number analysis by MAPH in 262 patients with hypomyelinating leukodystrophies: Identification of one partial triplication and two partial deletions of PLP1.
Combes P, Bonnet-Dupeyron MN, Gauthier-Barichard F, Schiffmann R, Bertini E, Rodriguez D, Armour JA, Boespflug-Tanguy O, Vaurs-Barrière C. Combes P, et al. Among authors: rodriguez d. Neurogenetics. 2006 Mar;7(1):31-7. doi: 10.1007/s10048-005-0021-1. Epub 2006 Jan 17. Neurogenetics. 2006. PMID: 16416265
Tumor-like enlargement of the optic chiasm in an infant with Alexander disease.
Mignot C, Desguerre I, Burglen L, Hertz-Pannier L, Renaldo F, Gadisseux JF, Gallet S, Pham-Dinh D, Boespflug-Tanguy O, Rodriguez D. Mignot C, et al. Among authors: rodriguez d. Brain Dev. 2009 Mar;31(3):244-7. doi: 10.1016/j.braindev.2008.05.005. Epub 2008 Jun 26. Brain Dev. 2009. PMID: 18584981
2,310 results