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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1993 1
1998 1
2001 1
2002 2
2003 1
2004 2
2005 5
2006 2
2007 3
2008 7
2009 4
2010 4
2011 4
2012 7
2013 8
2014 7
2015 4
2016 3
2017 1
2018 4
2019 2
2020 4
2021 1
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64 results
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Page 1
MFN2 mutations in Charcot-Marie-Tooth disease alter mitochondria-associated ER membrane function but do not impair bioenergetics.
Larrea D, Pera M, Gonnelli A, Quintana-Cabrera R, Akman HO, Guardia-Laguarta C, Velasco KR, Area-Gomez E, Dal Bello F, De Stefani D, Horvath R, Shy ME, Schon EA, Giacomello M. Larrea D, et al. Among authors: akman ho. Hum Mol Genet. 2019 Jun 1;28(11):1782-1800. doi: 10.1093/hmg/ddz008. Hum Mol Genet. 2019. PMID: 30649465 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: akman ho. Ann Neurol. 2012 Sep;72(3):433-41. doi: 10.1002/ana.23598. Ann Neurol. 2012. PMID: 23034915 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.
Animal models of glycogen storage disorders.
Akman HO, Raghavan A, Craigen WJ. Akman HO, et al. Prog Mol Biol Transl Sci. 2011;100:369-88. doi: 10.1016/B978-0-12-384878-9.00009-1. Prog Mol Biol Transl Sci. 2011. PMID: 21377631 Review.
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.
GBE1 Adult Polyglucosan Body Disease.
Akman HO, Lossos A, Kakhlon O. Akman HO, et al. 2009 Apr 2 [updated 2020 Sep 17]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2020. 2009 Apr 2 [updated 2020 Sep 17]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2020. PMID: 20301758 Free Books & Documents. Review.
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