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Neurodegeneration with brain iron accumulation.
Gregory A, Hayflick SJ. Gregory A, et al. Among authors: hayflick sj. Folia Neuropathol. 2005;43(4):286-96. Folia Neuropathol. 2005. PMID: 16416393 Free PMC article. Review.
PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron.
Morgan NV, Westaway SK, Morton JE, Gregory A, Gissen P, Sonek S, Cangul H, Coryell J, Canham N, Nardocci N, Zorzi G, Pasha S, Rodriguez D, Desguerre I, Mubaidin A, Bertini E, Trembath RC, Simonati A, Schanen C, Johnson CA, Levinson B, Woods CG, Wilmot B, Kramer P, Gitschier J, Maher ER, Hayflick SJ. Morgan NV, et al. Among authors: hayflick sj. Nat Genet. 2006 Jul;38(7):752-4. doi: 10.1038/ng1826. Epub 2006 Jun 18. Nat Genet. 2006. PMID: 16783378 Free PMC article.
Mutations in PLA2G6 and the riddle of Schindler disease.
Westaway SK, Gregory A, Hayflick SJ. Westaway SK, et al. Among authors: hayflick sj. J Med Genet. 2007 Jan;44(1):e64. doi: 10.1136/jmg.2006.044966. J Med Genet. 2007. PMID: 17209134 Free PMC article. No abstract available.
Infantile neuroaxonal dystrophy: what's most important for the diagnosis?
Carrilho I, Santos M, Guimarães A, Teixeira J, Chorão R, Martins M, Dias C, Gregory A, Westaway S, Nguyen T, Hayflick S, Barbot C. Carrilho I, et al. Eur J Paediatr Neurol. 2008 Nov;12(6):491-500. doi: 10.1016/j.ejpn.2008.01.005. Epub 2008 Mar 21. Eur J Paediatr Neurol. 2008. PMID: 18359254
119 results