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    Results: 20

    1.

    Childhood presentation of "adult" polyglucosan body disease: normal GBE1 sequence with no glycogen branching enzyme activity.

    Bathgate D, Wigley R, Gorman G, Horvath R, Chinnery PF.

    Ann Neurol. 2013 Feb;73(2):317-8. doi: 10.1002/ana.23854. No abstract available.

    PMID:
    23526558
    [PubMed - indexed for MEDLINE]
    2.

    Abnormal glycogen in astrocytes is sufficient to cause adult polyglucosan body disease.

    Dainese L, Monin ML, Demeret S, Brochier G, Froissart R, Spraul A, Schiffmann R, Seilhean D, Mochel F.

    Gene. 2013 Feb 25;515(2):376-9. doi: 10.1016/j.gene.2012.12.065. Epub 2012 Dec 21.

    PMID:
    23266647
    [PubMed - indexed for MEDLINE]
    3.

    Acute but transient neurological deterioration revealing adult polyglucosan body disease.

    Billot S, Hervé D, Akman HO, Froissart R, Baussan C, Claeys KG, Piraud M, Sedel F, Mochel F, Laforêt P.

    J Neurol Sci. 2013 Jan 15;324(1-2):179-82. doi: 10.1016/j.jns.2012.10.015. Epub 2012 Nov 10.

    PMID:
    23146612
    [PubMed - indexed for MEDLINE]
    4.

    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.

    Ann Neurol. 2012 Sep;72(3):433-41. doi: 10.1002/ana.23598.

    PMID:
    23034915
    [PubMed - indexed for MEDLINE]
    5.

    The adult polyglucosan body disease mutation GBE1 c.1076A>C occurs at high frequency in persons of Ashkenazi Jewish background.

    Hussain A, Armistead J, Gushulak L, Kruck C, Pind S, Triggs-Raine B, Natowicz MR.

    Biochem Biophys Res Commun. 2012 Sep 21;426(2):286-8. doi: 10.1016/j.bbrc.2012.08.089. Epub 2012 Aug 25.

    PMID:
    22943850
    [PubMed - indexed for MEDLINE]
    6.

    Progress and problems in muscle glycogenoses.

    DiMauro S, Spiegel R.

    Acta Myol. 2011 Oct;30(2):96-102. Review.

    PMID:
    22106711
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    7.

    Adult polyglucosan body disease masquerading as "ALS with dementia of the Alzheimer type": an exceptional phenotype in a rare pathology.

    Segers K, Kadhim H, Colson C, Duttmann R, Glibert G.

    Alzheimer Dis Assoc Disord. 2012 Jan;26(1):96-9. doi: 10.1097/WAD.0b013e31821cc65d.

    PMID:
    21572310
    [PubMed - indexed for MEDLINE]
    8.

    Adult polyglucosan body disease: a rare presentation with chronic liver disease and ground-glass hepatocellular inclusions.

    Hajdu CH, Lefkowitch JH.

    Semin Liver Dis. 2011 May;31(2):223-9. doi: 10.1055/s-0031-1276649. Epub 2011 May 2.

    PMID:
    21538287
    [PubMed - indexed for MEDLINE]
    9.

    Adult Polyglucosan Body Disease (APBD): Anaplerotic diet therapy (Triheptanoin) and demonstration of defective methylation pathways.

    Roe CR, Bottiglieri T, Wallace M, Arning E, Martin A.

    Mol Genet Metab. 2010 Oct-Nov;101(2-3):246-52. doi: 10.1016/j.ymgme.2010.06.017. Epub 2010 Jul 6.

    PMID:
    20655781
    [PubMed - indexed for MEDLINE]
    10.

    Parahippocampal corpora amylacea: case report.

    Abel TJ, Hebb AO, Keene CD, Born DE, Silbergeld DL.

    Neurosurgery. 2010 Jun;66(6):E1206-7. doi: 10.1227/01.NEU.0000369196.94664.4E.

    PMID:
    20495392
    [PubMed - indexed for MEDLINE]
    11.

    Immunohistochemical and ultrastructural changes in the brain in probable adult glycogenosis type IV: adult polyglucosan body disease.

    Wierzba-Bobrowicz T, Lewandowska E, Stepień T, Modzelewska J.

    Folia Neuropathol. 2008;46(3):165-75.

    PMID:
    18825592
    [PubMed - indexed for MEDLINE]
    12.

    Adult polyglucosan body disease: proton magnetic resonance spectroscopy of the brain and novel mutation in the GBE1 gene.

    Massa R, Bruno C, Martorana A, de Stefano N, van Diggelen OP, Federico A.

    Muscle Nerve. 2008 Apr;37(4):530-6.

    PMID:
    17994551
    [PubMed - indexed for MEDLINE]
    13.

    A case of adult polyglucosan body disease.

    Lee SY, Park JH, Kim SH, Kim TS, Kim WJ, Choi YC.

    Yonsei Med J. 2007 Aug 31;48(4):701-3.

    PMID:
    17722245
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    14.

    Stable neuropsychological deficits in adult polyglucosan body disease.

    Savage G, Ray F, Halmagyi M, Blazely A, Harper C.

    J Clin Neurosci. 2007 May;14(5):473-7. Epub 2006 May 30.

    PMID:
    16730990
    [PubMed - indexed for MEDLINE]
    15.

    Cognitive impairment in neuromuscular disorders.

    D'Angelo MG, Bresolin N.

    Muscle Nerve. 2006 Jul;34(1):16-33. Review.

    PMID:
    16544320
    [PubMed - indexed for MEDLINE]
    16.

    Adult polyglucosan body disease: a case report of a manifesting heterozygote.

    Ubogu EE, Hong ST, Akman HO, Dimauro S, Katirji B, Preston DC, Shapiro BE.

    Muscle Nerve. 2005 Nov;32(5):675-81.

    PMID:
    16007674
    [PubMed - indexed for MEDLINE]
    17.

    Atypical parkinsonism combining alpha-synuclein inclusions and polyglucosan body disease.

    Krim E, Vital A, Macia F, Yekhlef F, Tison F.

    Mov Disord. 2005 Feb;20(2):200-4.

    PMID:
    15382212
    [PubMed - indexed for MEDLINE]
    18.

    Fatal infantile neuromuscular presentation of glycogen storage disease type IV.

    Tay SK, Akman HO, Chung WK, Pike MG, Muntoni F, Hays AP, Shanske S, Valberg SJ, Mickelson JR, Tanji K, DiMauro S.

    Neuromuscul Disord. 2004 Apr;14(4):253-60.

    PMID:
    15019703
    [PubMed - indexed for MEDLINE]
    19.

    Adult polyglucosan body disease: case description of an expanding genetic and clinical syndrome.

    Klein CJ, Boes CJ, Chapin JE, Lynch CD, Campeau NG, Dyck PJ, Dyck PJ.

    Muscle Nerve. 2004 Feb;29(2):323-8.

    PMID:
    14755501
    [PubMed - indexed for MEDLINE]
    20.

    Adult polyglucosan body disease: a postmortem correlation study.

    Sindern E, Ziemssen F, Ziemssen T, Podskarbi T, Shin Y, Brasch F, Müller KM, Schröder JM, Malin JP, Vorgerd M.

    Neurology. 2003 Jul 22;61(2):263-5.

    PMID:
    12874416
    [PubMed - indexed for MEDLINE]

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