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Glycogen pathways in disease: new developments in a classical field of medical genetics.
Kilimann MW, Oldfors A. Kilimann MW, et al. J Inherit Metab Dis. 2015 May;38(3):483-7. doi: 10.1007/s10545-014-9785-5. Epub 2014 Nov 7. J Inherit Metab Dis. 2015. PMID: 25376534 Review.
Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases.
Burwinkel B, Hu B, Schroers A, Clemens PR, Moses SW, Shin YS, Pongratz D, Vorgerd M, Kilimann MW. Burwinkel B, et al. Among authors: kilimann mw. Eur J Hum Genet. 2003 Jul;11(7):516-26. doi: 10.1038/sj.ejhg.5200996. Eur J Hum Genet. 2003. PMID: 12825073
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: kilimann mw. Ann Neurol. 2000 Apr;47(4):536-40. Ann Neurol. 2000. PMID: 10762170
Molecular genetics of phosphorylase kinase: cDNA cloning, chromosomal mapping and isoform structure.
Kilimann MW. Kilimann MW. J Inherit Metab Dis. 1990;13(4):435-41. doi: 10.1007/BF01799500. J Inherit Metab Dis. 1990. PMID: 2122110 Review.
Adult-onset glycogen storage disease type II: phenotypic and allelic heterogeneity in German patients.
Vorgerd M, Burwinkel B, Reichmann H, Malin JP, Kilimann MW. Vorgerd M, et al. Among authors: kilimann mw. Neurogenetics. 1998 Mar;1(3):205-11. doi: 10.1007/s100480050030. Neurogenetics. 1998. PMID: 10737124
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: kilimann mw. Am J Hum Genet. 1998 Apr;62(4):785-91. doi: 10.1086/301790. Am J Hum Genet. 1998. PMID: 9529348 Free PMC article.
Liver glycogenosis due to phosphorylase kinase deficiency: PHKG2 gene structure and mutations associated with cirrhosis.
Burwinkel B, Shiomi S, Al Zaben A, Kilimann MW. Burwinkel B, et al. Among authors: kilimann mw. Hum Mol Genet. 1998 Jan;7(1):149-54. doi: 10.1093/hmg/7.1.149. Hum Mol Genet. 1998. PMID: 9384616
Mutations in the testis/liver isoform of the phosphorylase kinase gamma subunit (PHKG2) cause autosomal liver glycogenosis in the gsd rat and in humans.
Maichele AJ, Burwinkel B, Maire I, Søvik O, Kilimann MW. Maichele AJ, et al. Among authors: kilimann mw. Nat Genet. 1996 Nov;14(3):337-40. doi: 10.1038/ng1196-337. Nat Genet. 1996. PMID: 8896567
The BEACH Protein LRBA Promotes the Localization of the Heterotrimeric G-protein Golf to Olfactory Cilia.
Kurtenbach S, Gießl A, Strömberg S, Kremers J, Atorf J, Rasche S, Neuhaus EM, Hervé D, Brandstätter JH, Asan E, Hatt H, Kilimann MW. Kurtenbach S, et al. Among authors: kilimann mw. Sci Rep. 2017 Aug 16;7(1):8409. doi: 10.1038/s41598-017-08543-4. Sci Rep. 2017. PMID: 28814779 Free PMC article.
A mutation in GLUT2, not in phosphorylase kinase subunits, in hepato-renal glycogenosis with Fanconi syndrome and low phosphorylase kinase activity.
Burwinkel B, Sanjad SA, Al-Sabban E, Al-Abbad A, Kilimann MW. Burwinkel B, et al. Among authors: kilimann mw. Hum Genet. 1999 Sep;105(3):240-3. doi: 10.1007/s004390051095. Hum Genet. 1999. PMID: 10987651
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