| 1 | APBN
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| Adult polyglucosan body disease presenting as a unilateral progressive plexopathy.
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| Naddaf E, Kassardjian CD, Kurt YG, Akman HO, Windebank AJ.
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| Muscle Nerve 53(6):976-81. doi: 10.1002/mus.25041.
2016
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| 2 | APBN, GBE1
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| Polyglucosan bodies in intramuscular nerve branches are a poor predictor of GBE1 mutation and adult polyglucosan body disease.
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| Furtado LV, Kadri S, Wurst MN, Long BC, Segal JP, Pytel P.
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| Muscle Nerve 53(3):473-5. doi: 10.1002/mus.25017.
2016
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| 3 | APBN, GBE1
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| Deep intronic GBE1 mutation in manifesting heterozygous patients with adult polyglucosan body disease.
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| 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.
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| JAMA Neurol 72(4):441-5. doi: 10.1001/jamaneurol.2014.4496. Erratum in: JAMA Neurol. 2015 Apr;72(4):481.
2015
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| 4 | APBN, GBE1
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| A novel GBE1 mutation and features of polyglucosan bodies autophagy in adult polyglucosan body disease.
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| Sampaolo S, Esposito T, Gianfrancesco F, Napolitano F, Lombardi L, Lucà R, Roperto F, Di Iorio G.
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| Neuromuscul Disord 25(3):247-52. doi: 10.1016/j.nmd.2014.11.006.
2015
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| 5 | APBN
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| Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings.
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| 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.
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| Ann Neurol 72(3):433-41. doi: 10.1002/ana.23598.
2012
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| 6 | APBN, GBE1, GSD4
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| The adult polyglucosan body disease mutation GBE1 c.1076A>C occurs at high frequency in persons of Ashkenazi Jewish background.
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| Hussain A, Armistead J, Gushulak L, Kruck C, Pind S, Triggs-Raine B, Natowicz MR.
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| Biochem Biophys Res Commun 426(2):286-8. doi: 10.1016/j.bbrc.2012.08.089.
2012
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