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Page 1
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: kakhlon o. Ann Neurol. 2012 Sep;72(3):433-41. doi: 10.1002/ana.23598. Ann Neurol. 2012. PMID: 23034915 Free PMC article.
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: kakhlon o. JAMA Neurol. 2015 Apr;72(4):441-5. doi: 10.1001/jamaneurol.2014.4496. JAMA Neurol. 2015. PMID: 25665141
Frequent misdiagnosis of adult polyglucosan body disease.
Hellmann MA, Kakhlon O, Landau EH, Sadeh M, Giladi N, Schlesinger I, Kidron D, Abramsky O, Reches A, Argov Z, Rabey JM, Chapman J, Rosenmann H, Gal A, Moshe Gomori J, Meiner V, Lossos A. Hellmann MA, et al. Among authors: kakhlon o. J Neurol. 2015 Oct;262(10):2346-51. doi: 10.1007/s00415-015-7859-4. Epub 2015 Jul 21. J Neurol. 2015. PMID: 26194201
Structural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide design.
Froese DS, Michaeli A, McCorvie TJ, Krojer T, Sasi M, Melaev E, Goldblum A, Zatsepin M, Lossos A, Álvarez R, Escribá PV, Minassian BA, von Delft F, Kakhlon O, Yue WW. Froese DS, et al. Among authors: kakhlon o. Hum Mol Genet. 2015 Oct 15;24(20):5667-76. doi: 10.1093/hmg/ddv280. Epub 2015 Jul 21. Hum Mol Genet. 2015. PMID: 26199317 Free PMC article.
Guaiacol as a drug candidate for treating adult polyglucosan body disease.
Kakhlon O, Ferreira I, Solmesky LJ, Khazanov N, Lossos A, Alvarez R, Yetil D, Pampou S, Weil M, Senderowitz H, Escriba P, Yue WW, Akman HO. Kakhlon O, et al. JCI Insight. 2018 Sep 6;3(17):e99694. doi: 10.1172/jci.insight.99694. eCollection 2018 Sep 6. JCI Insight. 2018. PMID: 30185673 Free PMC article.
42 results