Shin YS - Search Results

1

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. Ziemssen F, et al. Among authors: shin ys. Ann Neurol. 2000 Apr;47(4):536-40. Ann Neurol. 2000. PMID: 10762170

2

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. Sindern E, et al. Neurology. 2003 Jul 22;61(2):263-5. doi: 10.1212/01.wnl.0000073144.96680.cb. Neurology. 2003. PMID: 12874416

3

[Adult polyglucosan antibody disease. Case report with predominant involvement of the central and peripheral nervous system and branching enzyme defect in leukocytes].

Sindern E, Patzold T, Vorgerd M, Shin YS, Podskarbi T, Schröder JM, Malin JP. Sindern E, et al. Among authors: shin ys. Nervenarzt. 1999 Aug;70(8):745-9. doi: 10.1007/s001150050505. Nervenarzt. 1999. PMID: 10483576 German.

4

Mutations in the liver glycogen phosphorylase gene (PYGL) underlying glycogenosis type VI.

Burwinkel B, Bakker HD, Herschkovitz E, Moses SW, Shin YS, Kilimann MW. Burwinkel B, et al. Among authors: shin ys. Am J Hum Genet. 1998 Apr;62(4):785-91. doi: 10.1086/301790. Am J Hum Genet. 1998. PMID: 9529348 Free PMC article.

5

Juvenile hereditary polyglucosan body disease with complete branching enzyme deficiency (type IV glycogenosis).

Schröder JM, May R, Shin YS, Sigmund M, Nase-Hüppmeier S. Schröder JM, et al. Among authors: shin ys. Acta Neuropathol. 1993;85(4):419-30. doi: 10.1007/BF00334454. Acta Neuropathol. 1993. PMID: 7683169

6

Mutation hotspots in the PHKA2 gene in X-linked liver glycogenosis due to phosphorylase kinase deficiency with atypical activity in blood cells (XLG2).

Burwinkel B, Shin YS, Bakker HD, Deutsch J, Lozano MJ, Maire I, Kilimann MW. Burwinkel B, et al. Among authors: shin ys. Hum Mol Genet. 1996 May;5(5):653-8. doi: 10.1093/hmg/5.5.653. Hum Mol Genet. 1996. PMID: 8733134

7

Autosomal glycogenosis of liver and muscle due to phosphorylase kinase deficiency is caused by mutations in the phosphorylase kinase beta subunit (PHKB).

Burwinkel B, Maichele AJ, Aagenaes O, Bakker HD, Lerner A, Shin YS, Strachan JA, Kilimann MW. Burwinkel B, et al. Among authors: shin ys. Hum Mol Genet. 1997 Jul;6(7):1109-15. doi: 10.1093/hmg/6.7.1109. Hum Mol Genet. 1997. PMID: 9215682

8

Mutations in the acid alpha-glucosidase gene (M. Pompe) in a patient with an unusual phenotype.

Anneser JM, Pongratz DE, Podskarbi T, Shin YS, Schoser BG. Anneser JM, et al. Among authors: shin ys. Neurology. 2005 Jan 25;64(2):368-70. doi: 10.1212/01.WNL.0000149528.95362.20. Neurology. 2005. PMID: 15668445

9

A new mutation of the glucose-6-phosphatase gene in a 4-year-old girl with oligosymptomatic glycogen storage disease type 1a.

Keller KM, Schütz M, Podskarbi T, Bindl L, Lentze MJ, Shin YS. Keller KM, et al. Among authors: shin ys. J Pediatr. 1998 Feb;132(2):360-1. doi: 10.1016/s0022-3476(98)70463-9. J Pediatr. 1998. PMID: 9506659

10

Adult polyglucosan body myopathy.

Goebel HH, Shin YS, Gullotta F, Yokota T, Alroy J, Voit T, Haller P, Schulz A. Goebel HH, et al. Among authors: shin ys. J Neuropathol Exp Neurol. 1992 Jan;51(1):24-35. doi: 10.1097/00005072-199201000-00004. J Neuropathol Exp Neurol. 1992. PMID: 1311021 Review.

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