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Page 1
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: kolodny e. 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.
Head trauma can initiate the onset of adreno-leukodystrophy.
Raymond GV, Seidman R, Monteith TS, Kolodny E, Sathe S, Mahmood A, Powers JM. Raymond GV, et al. Among authors: kolodny e. J Neurol Sci. 2010 Mar 15;290(1-2):70-4. doi: 10.1016/j.jns.2009.11.005. Epub 2009 Nov 28. J Neurol Sci. 2010. PMID: 19945717
Adrenoleukodystrophy: a clinical, pathological and biochemical study.
Schaumburg HH, Powers JM, Raine CS, Johnson AB, Kolodny EH, Kishimoto Y, Igarashi M, Suzuki K. Schaumburg HH, et al. Among authors: kolodny eh. Adv Exp Med Biol. 1976;68:379-87. doi: 10.1007/978-1-4684-7735-1_25. Adv Exp Med Biol. 1976. PMID: 937112 No abstract available.
A mutation in SCARB2 is a modifier in Gaucher disease.
Velayati A, DePaolo J, Gupta N, Choi JH, Moaven N, Westbroek W, Goker-Alpan O, Goldin E, Stubblefield BK, Kolodny E, Tayebi N, Sidransky E. Velayati A, et al. Among authors: kolodny e. Hum Mutat. 2011 Nov;32(11):1232-8. doi: 10.1002/humu.21566. Epub 2011 Sep 15. Hum Mutat. 2011. PMID: 21796727 Free PMC article.
Molecular basis of late-life globoid cell leukodystrophy.
De Gasperi R, Gama Sosa MA, Sartorato E, Battistini S, Raghavan S, Kolodny EH. De Gasperi R, et al. Among authors: kolodny eh. Hum Mutat. 1999;14(3):256-62. doi: 10.1002/(SICI)1098-1004(1999)14:3<256::AID-HUMU9>3.0.CO;2-6. Hum Mutat. 1999. PMID: 10477434
Fatty acid abnormality in adrenoleukodystrophy.
Igarashi M, Schaumburg HH, Powers J, Kishmoto Y, Kolodny E, Suzuki K. Igarashi M, et al. Among authors: kolodny e. J Neurochem. 1976 Apr;26(4):851-60. doi: 10.1111/j.1471-4159.1976.tb04462.x. J Neurochem. 1976. PMID: 965973 No abstract available.
236 results