| 1 | GBE1, GSD4
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| Systemic Correction of Murine Glycogen Storage Disease Type IV by an AAV-Mediated Gene Therapy.
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| Yi H, Zhang Q, Brooks ED, Yang C, Thurberg BL, Kishnani PS, Sun B.
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| Hum Gene Ther um Gene Ther. 2016 Nov 10. [Epub ahead of print]
2016
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| 2 | GBE1, GSD4
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| A novel neuromuscular form of glycogen storage disease type IV with arthrogryposis, spinal stiffness and rare polyglucosan bodies in muscle.
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| Malfatti E, Barnerias C, Hedberg-Oldfors C, Gitiaux C, Benezit A, Oldfors A, Carlier RY, Quijano-Roy S, Romero NB.
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| Neuromuscul Disord 26(10):681-687. doi: 10.1016/j.nmd.2016.07.005.
2016
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| 3 | GBE1, GSD4
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| Whole exome sequencing in foetal akinesia expands the genotype-phenotype spectrum of GBE1 glycogen storage disease mutations.
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| Ravenscroft G, Thompson EM, Todd EJ, Yau KS, Kresoje N, Sivadorai P, Friend K, Riley K, Manton ND, Blumbergs P, Fietz M, Duff RM, Davis MR, Allcock RJ, Laing NG.
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| Neuromuscul Disord 23(2):165-9. doi: 10.1016/j.nmd.2012.11.005.
2013
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| 4 | 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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| 5 | GBE1, GSD4
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| Glycogen-branching enzyme deficiency leads to abnormal cardiac development: novel insights into glycogen storage disease IV.
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| Lee YC, Chang CJ, Bali D, Chen YT, Yan YT.
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| Hum Mol Genet 20(3):455-65. doi: 10.1093/hmg/ddq492.
2011
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| 6 | GSD4
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| Placental involvement in glycogen storage disease type IV.
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| Konstantinidou AE, Anninos H, Dertinger S, Nonni A, Petersen M, Karadimas C, Havaki S, Marinos E, Akman HO, DiMauro S, Patsouris E.
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| Placenta 29(4):378-81. doi: 10.1016/j.placenta.2008.01.005.
2008
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| 7 | GBE1, GSD4
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| Null mutations and lethal congenital form of glycogen storage disease type IV.
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| Assereto S, van Diggelen OP, Diogo L, Morava E, Cassandrini D, Carreira I, de Boode WP, Dilling J, Garcia P, Henriques M, Rebelo O, ter Laak H, Minetti C, Bruno C.
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| Biochem Biophys Res Commun 361(2):445-50. Epub 2007 Jul 24. 2007
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| 8 | GBE1, GSD4
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| Neuromuscular forms of glycogen branching enzyme deficiency.
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| Bruno C, Cassandrini D, Assereto S, Akman HO, Minetti C, Di Mauro S.
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| Acta Myol 26(1):75-8.
2007
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| 9 | GSD4, GBE1
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| Non-lethal congenital hypotonia due to glycogen storage disease type IV.
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| Burrow TA, Hopkin RJ, Bove KE, Miles L, Wong BL, Choudhary A, Bali D, Li SC, Chen YT.
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| Am J Med Genet A 140(8):878-82. 2006
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| 10 | GBE1, GSD4
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| Neonatal type IV glycogen storage disease associated with null mutations in glycogen branching enzyme 1.
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| Janecke AR, Dertinger S, Ketelsen UP, Bereuter L, Simma B, Muller T, Vogel W, Offner FA.
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| J Pediatr 145(5):705-9. 2004
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| 11 | GSD4
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| Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV).
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| Bruno C, van Diggelen OP, Cassandrini D, Gimpelev M, Giuffrè B, Donati MA, Introvini P, Alegria A, Assereto S, Morandi L, Mora M, Tonoli E, Mascelli S, Traverso M, Pasquini E, Bado M, Vilarinho L, van Noort G, Mosca F, DiMauro S, Zara F, Minetti C.
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| Neurology 63(6):1053-8.
2004
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| 12 | GBE1, GSD4
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| Novel missense mutations in the glycogen-branching enzyme gene in adult polyglucosan body disease.
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| Ziemssen F, Sindern E, Schroder JM, Shin YS, Zange J, Kilimann MW, Malin JP, Vorgerd M.
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| Ann Neurol 47(4):536-40. 2000
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| 13 | GBE1, GSD4
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| Adult polygucosan body disease in Ashkenazi Jewish patients carrying the Tyr329Ser mutation in the glycogen-branching enzyme gene.
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| Lossos A, et al.
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| Ann Neurol 44 : 867-872. 1998
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| 14 | GBE1, GSD4
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| Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene.
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| Bao Y, et al.
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| J Clin Invest 97 : 941-948. 1996
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| 15 | GSD4
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| Isolation of human glycogen branching enzyme cDNAs by screening complementation in yeast.
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| Thon VJ, et al.
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| J Biol Chem 268 : 7509-7513. 1993
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