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Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings.
Mochel F, Schiffmann R, Steenweg ME, Akman HO, Wallace M, Sedel F, Laforêt P, Levy R, Powers JM, Demeret S, Maisonobe T, Froissart R, Da Nobrega BB, Fogel BL, Natowicz MR, Lubetzki C, Durr A, Brice A, Rosenmann H, Barash V, Kakhlon O, Gomori JM, van der Knaap MS, Lossos A. Mochel F, et al. Among authors: schiffmann r. Ann Neurol. 2012 Sep;72(3):433-41. doi: 10.1002/ana.23598. Ann Neurol. 2012. PMID: 23034915 Free PMC article.
Reply: To PMID 23034915.
Mochel F, Schiffmann R. Mochel F, et al. Among authors: schiffmann r. Ann Neurol. 2013 Feb;73(2):318. doi: 10.1002/ana.23855. Ann Neurol. 2013. PMID: 23526559 No abstract available.
Deep intronic GBE1 mutation in manifesting heterozygous patients with adult polyglucosan body disease.
Akman HO, Kakhlon O, Coku J, Peverelli L, Rosenmann H, Rozenstein-Tsalkovich L, Turnbull J, Meiner V, Chama L, Lerer I, Shpitzen S, Leitersdorf E, Paradas C, Wallace M, Schiffmann R, DiMauro S, Lossos A, Minassian BA. Akman HO, et al. Among authors: schiffmann r. JAMA Neurol. 2015 Apr;72(4):441-5. doi: 10.1001/jamaneurol.2014.4496. JAMA Neurol. 2015. PMID: 25665141
The latest on leukodystrophies.
Schiffmann R, van der Knaap MS. Schiffmann R, et al. Curr Opin Neurol. 2004 Apr;17(2):187-92. doi: 10.1097/00019052-200404000-00017. Curr Opin Neurol. 2004. PMID: 15021247 Review.
Free sialic acid storage disease without sialuria.
Mochel F, Yang B, Barritault J, Thompson JN, Engelke UF, McNeill NH, Benko WS, Kaneski CR, Adams DR, Tsokos M, Abu-Asab M, Huizing M, Seguin F, Wevers RA, Ding J, Verheijen FW, Schiffmann R. Mochel F, et al. Among authors: schiffmann r. Ann Neurol. 2009 Jun;65(6):753-7. doi: 10.1002/ana.21624. Ann Neurol. 2009. PMID: 19557856 Free PMC article.
Cerebellar ataxia with elevated cerebrospinal free sialic acid (CAFSA).
Mochel F, Sedel F, Vanderver A, Engelke UF, Barritault J, Yang BZ, Kulkarni B, Adams DR, Clot F, Ding JH, Kaneski CR, Verheijen FW, Smits BW, Seguin F, Brice A, Vanier MT, Huizing M, Schiffmann R, Durr A, Wevers RA. Mochel F, et al. Among authors: schiffmann r. Brain. 2009 Mar;132(Pt 3):801-9. doi: 10.1093/brain/awn355. Epub 2009 Jan 19. Brain. 2009. PMID: 19153153 Free PMC article.
322 results