Central Nervous System Lesions in von Hippel-Lindau Syndrome
JNNP 55:898-901, Neumann,H.P.H.,et al, 1992
Alexander Disease, Ventricular Garlands and Abnormalities of the Medulla and Spinal Cord
Neurol 66:494-498,468, van der Knaap,M.S.,et al, 2006
Molecular Genetics in Neurology
Ann Neurol 34:757-773, Martin,J.B., 1993
Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
Medicine 70:99-117, Gatti,R.A.,et al, 1991
Linkage of a Gene Causing Familial ALS to Chromosome 21 & Evidence of Genetic-Locus Heterogeneity
NEJM 324:1381-1384, 1430-14321991., Siddique,T.,et al, 1991
Mapping of Acute (Type 1) Spinal Muscular Atrophy to Chromosome 5q12-q14
Lancet 336:271-273, Melki,J.,et al, 1990
Spinal Muscular Atrophies
Editorial, Lancet 336:280-2811990., , 1990
Von Hippel-Lindau Disease Affecting 43 Members of a Single Kindred
Medicine 68:1-29, Lamiell,J.M.,et al, 1989