Neurological Management of Von Hippel-Lindau Disease
Neurologist 21:73-78, Hodgson, T.S.,et al, 2016
Creutzfeldt-Jakob Disease and Related Transmissible Spongiform Encephalopathies
NEJM 339:1994-2004, Johnson,R.T. & Gibbs,Jr.,C.J., 1998
Von Hippel-Lindau Disease Affecting 43 Members of a Single Kindred
Medicine 68:1-29, Lamiell,J.M.,et al, 1989
Clinical Spectrum of Hereditary Hemorrhagic Telangiectasia (Osler-Wever-Rendu Disease)
Am J Med 82:989-997, Perry,W.H., 1987
Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
NEJM 386;674-687, Case 5-2022, 2022
Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022
Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
Pediatrics 102:98-100, Cabana,M.D.,et al, 1998
Charcot-Marie-Tooth Disease and Related Inherited Neuropathies
Medicine 75:233-250, Murakami,T.,et al, 1996
Causal Heterogeneity in Isolated Lissencephaly
Neurol 42:1375-1388, Dobyns,W.B.,et al, 1992
Clinical and Electrodignostic Features of X-Linked Recessive Bulbospinal Neuronopathy
Neurol 41:823-828, Olney,R.K.,et al, 1991
Diagnosis of Gerstmann-Straussler Syndrome in Familial Dementia with Prion Protein Gene Analysis
Lancet 2:15-17, Collinge,J.,et al, 1989