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Page 1
A De Novo Mutation in MTND6 Causes Generalized Dystonia in 2 Unrelated Children.
Kurt YG, Çoku J, Akman HO, Naini A, Lu J, Engelstad K, Hirano M, De Vivo DC, DiMauro S. Kurt YG, et al. Among authors: akman ho. Child Neurol Open. 2016 Apr 4;3:2329048X15627937. doi: 10.1177/2329048X15627937. eCollection 2016 Jan-Dec. Child Neurol Open. 2016. PMID: 28503604 Free PMC article.
A double-blind, placebo-controlled trial of triheptanoin in adult polyglucosan body disease and open-label, long-term outcome.
Schiffmann R, Wallace ME, Rinaldi D, Ledoux I, Luton MP, Coleman S, Akman HO, Martin K, Hogrel JY, Blankenship D, Turner J, Mochel F. Schiffmann R, et al. Among authors: akman ho. J Inherit Metab Dis. 2018 Sep;41(5):877-883. doi: 10.1007/s10545-017-0103-x. Epub 2017 Nov 6. J Inherit Metab Dis. 2018. PMID: 29110179 Clinical Trial.
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. Among authors: akman ho. 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.
GYS1 or PPP1R3C deficiency rescues murine adult polyglucosan body disease.
Chown EE, Wang P, Zhao X, Crowder JJ, Strober JW, Sullivan MA, Xue Y, Bennett CS, Perri AM, Evers BM, Roach PJ, Depaoli-Roach AA, Akman HO, Pederson BA, Minassian BA. Chown EE, et al. Among authors: akman ho. Ann Clin Transl Neurol. 2020 Nov;7(11):2186-2198. doi: 10.1002/acn3.51211. Epub 2020 Oct 9. Ann Clin Transl Neurol. 2020. PMID: 33034425 Free PMC article.
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: akman ho. 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.
74 results