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Page 1
Propensity for paternal inheritance of de novo mutations in Alexander disease.
Li R, Johnson AB, Salomons GS, van der Knaap MS, Rodriguez D, Boespflug-Tanguy O, Gorospe JR, Goldman JE, Messing A, Brenner M. Li R, et al. Among authors: brenner m. Hum Genet. 2006 Mar;119(1-2):137-44. doi: 10.1007/s00439-005-0116-7. Epub 2005 Dec 20. Hum Genet. 2006. PMID: 16365765
GFAP mutations in Alexander disease.
Li R, Messing A, Goldman JE, Brenner M. Li R, et al. Among authors: brenner m. Int J Dev Neurosci. 2002 Jun-Aug;20(3-5):259-68. doi: 10.1016/s0736-5748(02)00019-9. Int J Dev Neurosci. 2002. PMID: 12175861 Review.
Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease.
Li R, Johnson AB, Salomons G, Goldman JE, Naidu S, Quinlan R, Cree B, Ruyle SZ, Banwell B, D'Hooghe M, Siebert JR, Rolf CM, Cox H, Reddy A, Gutiérrez-Solana LG, Collins A, Weller RO, Messing A, van der Knaap MS, Brenner M. Li R, et al. Among authors: brenner m. Ann Neurol. 2005 Mar;57(3):310-26. doi: 10.1002/ana.20406. Ann Neurol. 2005. PMID: 15732097
Splice site, frameshift, and chimeric GFAP mutations in Alexander disease.
Flint D, Li R, Webster LS, Naidu S, Kolodny E, Percy A, van der Knaap M, Powers JM, Mantovani JF, Ekstein J, Goldman JE, Messing A, Brenner M. Flint D, et al. Among authors: brenner m. Hum Mutat. 2012 Jul;33(7):1141-8. doi: 10.1002/humu.22094. Epub 2012 Apr 30. Hum Mutat. 2012. PMID: 22488673 Free PMC article.
Infantile Alexander disease: spectrum of GFAP mutations and genotype-phenotype correlation.
Rodriguez D, Gauthier F, Bertini E, Bugiani M, Brenner M, N'guyen S, Goizet C, Gelot A, Surtees R, Pedespan JM, Hernandorena X, Troncoso M, Uziel G, Messing A, Ponsot G, Pham-Dinh D, Dautigny A, Boespflug-Tanguy O. Rodriguez D, et al. Among authors: brenner m. Am J Hum Genet. 2001 Nov;69(5):1134-40. doi: 10.1086/323799. Epub 2001 Sep 20. Am J Hum Genet. 2001. PMID: 11567214 Free PMC article.
Alexander disease: GFAP mutations unify young and old.
Messing A, Brenner M. Messing A, et al. Among authors: brenner m. Lancet Neurol. 2003 Feb;2(2):75. doi: 10.1016/s1474-4422(03)00301-6. Lancet Neurol. 2003. PMID: 12849260 No abstract available.
Unusual variants of Alexander's disease.
van der Knaap MS, Salomons GS, Li R, Franzoni E, Gutiérrez-Solana LG, Smit LM, Robinson R, Ferrie CD, Cree B, Reddy A, Thomas N, Banwell B, Barkhof F, Jakobs C, Johnson A, Messing A, Brenner M. van der Knaap MS, et al. Among authors: brenner m. Ann Neurol. 2005 Mar;57(3):327-38. doi: 10.1002/ana.20381. Ann Neurol. 2005. PMID: 15732098
2,265 results