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Page 1
Novel tau filament folds in individuals with MAPT mutations P301L and P301T.
Schweighauser M, Shi Y, Murzin AG, Garringer HJ, Vidal R, Murrell JR, Erro ME, Seelaar H, Ferrer I, van Swieten JC, Ghetti B, Scheres SHW, Goedert M. Schweighauser M, et al. Among authors: garringer hj. bioRxiv [Preprint]. 2024 Aug 17:2024.08.15.608062. doi: 10.1101/2024.08.15.608062. bioRxiv. 2024. PMID: 39185206 Free PMC article. Preprint.
The role of mutant UDP-N-acetyl-alpha-D-galactosamine-polypeptide N-acetylgalactosaminyltransferase 3 in regulating serum intact fibroblast growth factor 23 and matrix extracellular phosphoglycoprotein in heritable tumoral calcinosis.
Garringer HJ, Fisher C, Larsson TE, Davis SI, Koller DL, Cullen MJ, Draman MS, Conlon N, Jain A, Fedarko NS, Dasgupta B, White KE. Garringer HJ, et al. J Clin Endocrinol Metab. 2006 Oct;91(10):4037-42. doi: 10.1210/jc.2006-0305. Epub 2006 Jul 25. J Clin Endocrinol Metab. 2006. PMID: 16868048
Two novel GALNT3 mutations in familial tumoral calcinosis.
Garringer HJ, Mortazavi SM, Esteghamat F, Malekpour M, Boztepe H, Tanakol R, Davis SI, White KE. Garringer HJ, et al. Am J Med Genet A. 2007 Oct 15;143A(20):2390-6. doi: 10.1002/ajmg.a.31947. Am J Med Genet A. 2007. PMID: 17853462
Modeling familial British and Danish dementia.
Garringer HJ, Murrell J, D'Adamio L, Ghetti B, Vidal R. Garringer HJ, et al. Brain Struct Funct. 2010 Mar;214(2-3):235-44. doi: 10.1007/s00429-009-0221-9. Epub 2009 Sep 25. Brain Struct Funct. 2010. PMID: 19779737 Free PMC article. Review.
48 results