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Items: 1 to 20 of 150

1.

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
2.

Adult polyglucosan body disease in Ashkenazi Jewish patients carrying the Tyr329Ser mutation in the glycogen-branching enzyme gene.

Lossos A, Meiner Z, Barash V, Soffer D, Schlesinger I, Abramsky O, Argov Z, Shpitzen S, Meiner V.

Ann Neurol. 1998 Dec;44(6):867-72.

PMID:
9851430
3.

Novel missense mutations in the glycogen-branching enzyme gene in adult polyglucosan body disease.

Ziemssen F, Sindern E, Schröder JM, Shin YS, Zange J, Kilimann MW, Malin JP, Vorgerd M.

Ann Neurol. 2000 Apr;47(4):536-40.

PMID:
10762170
4.

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
5.

Hereditary branching enzyme dysfunction in adult polyglucosan body disease: a possible metabolic cause in two patients.

Lossos A, Barash V, Soffer D, Argov Z, Gomori M, Ben-Nariah Z, Abramsky O, Steiner I.

Ann Neurol. 1991 Nov;30(5):655-62.

PMID:
1763891
6.

Diffuse reticuloendothelial system involvement in type IV glycogen storage disease with a novel GBE1 mutation: a case report and review.

Magoulas PL, El-Hattab AW, Roy A, Bali DS, Finegold MJ, Craigen WJ.

Hum Pathol. 2012 Jun;43(6):943-51. doi: 10.1016/j.humpath.2011.10.001. Epub 2012 Feb 2. Review.

PMID:
22305237
7.

Congenital type IV glycogenosis: the spectrum of pleomorphic polyglucosan bodies in muscle, nerve, and spinal cord with two novel mutations in the GBE1 gene.

Nolte KW, Janecke AR, Vorgerd M, Weis J, Schröder JM.

Acta Neuropathol. 2008 Nov;116(5):491-506. doi: 10.1007/s00401-008-0417-8. Epub 2008 Jul 26.

PMID:
18661138
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
9.

Neonatal type IV glycogen storage disease associated with "null" mutations in glycogen branching enzyme 1.

Janecke AR, Dertinger S, Ketelsen UP, Bereuter L, Simma B, Müller T, Vogel W, Offner FA.

J Pediatr. 2004 Nov;145(5):705-9.

PMID:
15520786
10.

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
11.

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
12.

Glycogen branching enzyme deficiency in adult polyglucosan body disease.

Bruno C, Servidei S, Shanske S, Karpati G, Carpenter S, McKee D, Barohn RJ, Hirano M, Rifai Z, DiMauro S.

Ann Neurol. 1993 Jan;33(1):88-93.

PMID:
8494336
13.

A novel mouse model that recapitulates adult-onset glycogenosis type 4.

Orhan Akman H, Emmanuele V, Kurt YG, Kurt B, Sheiko T, DiMauro S, Craigen WJ.

Hum Mol Genet. 2015 Dec 1;24(23):6801-10. doi: 10.1093/hmg/ddv385. Epub 2015 Sep 18.

14.

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.

JAMA Neurol. 2015 Apr;72(4):441-5. doi: 10.1001/jamaneurol.2014.4496. Erratum in: JAMA Neurol. 2015 Apr;72(4):481.

PMID:
25665141
15.

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
16.

A novel GBE1 mutation and features of polyglucosan bodies autophagy in adult polyglucosan body disease.

Sampaolo S, Esposito T, Gianfrancesco F, Napolitano F, Lombardi L, Lucà R, Roperto F, Di Iorio G.

Neuromuscul Disord. 2015 Mar;25(3):247-52. doi: 10.1016/j.nmd.2014.11.006. Epub 2014 Nov 18.

PMID:
25544507
17.

Glycogen-branching enzyme deficiency leads to abnormal cardiac development: novel insights into glycogen storage disease IV.

Lee YC, Chang CJ, Bali D, Chen YT, Yan YT.

Hum Mol Genet. 2011 Feb 1;20(3):455-65. doi: 10.1093/hmg/ddq492. Epub 2010 Nov 12.

PMID:
21075835
18.

Non-lethal neonatal neuromuscular variant of glycogenosis type IV with novel GBE1 mutations.

Fernandez C, Halbert C, De Paula AM, Lacroze V, Froissart R, Figarella-Branger D, Chabrol B, Pellissier JF.

Muscle Nerve. 2010 Feb;41(2):269-71. doi: 10.1002/mus.21499.

PMID:
19813197
19.

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.

20.

A case of congenital glycogen storage disease type IV with a novel GBE1 mutation.

Raju GP, Li HC, Bali DS, Chen YT, Urion DK, Lidov HG, Kang PB.

J Child Neurol. 2008 Mar;23(3):349-52. doi: 10.1177/0883073807309248. Epub 2008 Jan 29.

PMID:
18230843

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