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Page 1
Identification of four novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1: association with central core disease and alteration of calcium homeostasis.
Tilgen N, Zorzato F, Halliger-Keller B, Muntoni F, Sewry C, Palmucci LM, Schneider C, Hauser E, Lehmann-Horn F, Müller CR, Treves S. Tilgen N, et al. Among authors: halliger keller b. Hum Mol Genet. 2001 Dec 1;10(25):2879-87. doi: 10.1093/hmg/10.25.2879. Hum Mol Genet. 2001. PMID: 11741831
Allelic heterogeneity of alkaptonuria in Central Europe.
Müller CR, Fregin A, Srsen S, Srsnova K, Halliger-Keller B, Felbor U, Seemanova E, Kress W. Müller CR, et al. Among authors: halliger keller b. Eur J Hum Genet. 1999 Sep;7(6):645-51. doi: 10.1038/sj.ejhg.5200343. Eur J Hum Genet. 1999. PMID: 10482952
Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores.
Jungbluth H, Müller CR, Halliger-Keller B, Brockington M, Brown SC, Feng L, Chattopadhyay A, Mercuri E, Manzur AY, Ferreiro A, Laing NG, Davis MR, Roper HP, Dubowitz V, Bydder G, Sewry CA, Muntoni F. Jungbluth H, et al. Among authors: halliger keller b. Neurology. 2002 Jul 23;59(2):284-7. doi: 10.1212/wnl.59.2.284. Neurology. 2002. PMID: 12136074
The genetic defect of the alkaptonuric mouse (aku).
Kress W, Schmidt SR, Halliger-Keller B, Montagutelli X, Müller CR. Kress W, et al. Among authors: halliger keller b. Mamm Genome. 1999 Jan;10(1):68-70. doi: 10.1007/s003359900945. Mamm Genome. 1999. PMID: 9892737 No abstract available.
CCM1 gene deletion identified by MLPA in cerebral cavernous malformation.
Gaetzner S, Stahl S, Sürücü O, Schaafhausen A, Halliger-Keller B, Bertalanffy H, Sure U, Felbor U. Gaetzner S, et al. Among authors: halliger keller b. Neurosurg Rev. 2007 Apr;30(2):155-9; discussion 159-60. doi: 10.1007/s10143-006-0057-1. Epub 2006 Dec 23. Neurosurg Rev. 2007. PMID: 17187287
No evidence for heterogeneity in oculopharyngeal muscular dystrophy.
Kress W, Halliger-Keller B, Grimm T, Porschke H, Engelhardt A, Goebel HH, Müller-Mysok B. Kress W, et al. J Med Genet. 1998 Jul;35(7):613-4. doi: 10.1136/jmg.35.7.613. J Med Genet. 1998. PMID: 9678711 Free PMC article. No abstract available.
11 results