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Page 1
Alleviation of a polyglucosan storage disorder by enhancement of autophagic glycogen catabolism.
Kakhlon O, Vaknin H, Mishra K, D'Souza J, Marisat M, Sprecher U, Wald-Altman S, Dukhovny A, Raviv Y, Da'adoosh B, Engel H, Benhamron S, Nitzan K, Sweetat S, Permyakova A, Mordechai A, Akman HO, Rosenmann H, Lossos A, Tam J, Minassian BA, Weil M. Kakhlon O, et al. Among authors: rosenmann h. EMBO Mol Med. 2021 Oct 7;13(10):e14554. doi: 10.15252/emmm.202114554. Epub 2021 Sep 6. EMBO Mol Med. 2021. PMID: 34486811 Free PMC article.
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: rosenmann h. 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: rosenmann h. 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: rosenmann h. J Neurol. 2015 Oct;262(10):2346-51. doi: 10.1007/s00415-015-7859-4. Epub 2015 Jul 21. J Neurol. 2015. PMID: 26194201
84 results