De-Novo Mutation in Hereditary Motor and Sensory Neuropathy Type I
Lancet 339:1081-1082, Hoogendijk,J.E.,et al, 1992
Hereditary Motor & Sensory Neuropathy, X-Linked:A Half Century Follow-Up
Neurol 37:1460-1465, Rozear,M.P.,et al, 1987
Location of the Gene for X-Linked Spinal Muscular Atrophy
Neurol 36:1595-1598, Fischbeck,K.H.,et al, 1986
Unusual Variants of Alexander's Disease
Ann Neurol 57:327-338, van der Knaap,M.S., et al, 2005
Molecular Genetics of Duchenne and Becker Muscular Dystrophy
J Pediatr 117:1-15, Darras,B.T., 1990
Gene Studies in Newborn Males with Duchenne Muscular Dystrophy Detected by Neonatal Screening
Lancet 2:425-427, Greenberg,C.R.,et al, 1988
Retinitis Pigmentosa
Surv Ophthalmol 33:137-177, Pagon,R.A., 1988