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Neurology|September 1, 1992
Clinical, pathologic, and biochemical features of a cholesterol lipidosis accompanied by hyperlipidemia and xanthomasM R Filling-Katz, S P Miller, H F Merrick, et al.Annals of Neurology|May 1, 1997
Leukodystrophy in patients with ovarian dysgenesisR Schiffmann, G Tedeschi, R P Kinkel, et al.Annals of Neurology|March 1, 1994
Childhood ataxia with diffuse central nervous system hypomyelinationR Schiffmann, J R Moller, B D Trapp, et al.Neurology|December 13, 2006
Peripheral and central hypomyelination with hypogonadotropic hypogonadism and hypodontiaM Timmons, M Tsokos, M Abu Asab, et al.Human Molecular Genetics|October 13, 2000
Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channelM Sun, E Goldin, S Stahl, et al.Neurology|May 12, 2004
The effect of genotype on the natural history of eIF2B-related leukodystrophiesA Fogli, R Schiffmann, E Bertini, et al.Neurology|August 17, 2002
The neurogenetics of mucolipidosis type IVG Altarescu, M Sun, D F Moore, et al.Brain : a Journal of Neurology|January 21, 2009
Cerebellar ataxia with elevated cerebrospinal free sialic acid (CAFSA)F Mochel, F Sedel, A Vanderver, et al.Science (New York, N.Y.)|July 11, 1997
Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasisE D Carstea, J A Morris, K G Coleman, et al.Pageof 2