Inborn Errors of Metabolism as a Cause of Neurological Disease in Adults: An Approach to Investigation
JNNP 69: 5-12, Gray,R.G.F. et al, 2000
Bilat Periventricular Nodular Heterotopia with Mental Retard & Syndactyly in Boys:New X-Linked MR Synd
Neurol 49:1042-1047, Dobyns,W.B.,et al, 1997
Mitochondrial DNA and Disease
NEJM 333:638-644, Johns,D.R., 1995
Hereditary Sensory and Autonomic Neuropathy with Cataracts, Mental Retardation, and Skin Lesions:Five Cases
Neurol 45:1405-1408, Heckmann,J.M.,et al, 1995
Cerebrotendinous Xanthomatosis:Molecular Diagnosis Enables Presymptomatic Detection of a Treatable Disease
Neurol 44:288-290, Meiner,V.,et al, 1994
Wilson Disease
Medicine 71:139-164, Brewer,G.J.&Yuzbasiyan-Gurkan,V., 1992
Cerebrotendinous Xanthomatosis:Clinical and MRI Study (A Case Report)
JNNP 53:76-78, Fiorelli,M.,et al, 1990
Neurologic Manifestations of Giant Cell Arteritis
Am J Med 89:67-72, Reich,K.A.,et al, 1990
Cerebral Cortex and Brainstem Involvement in Marinesco-Sjogren Syndrome
Ann Neurol 27:448-449, Katafuchi,Y.,et al, 1990
The Marinesco-Sjogren Syndrome Examined by CT, MR, and 18F-2-Fluoro-2-Deoxy-D-Glucose & PET
Arch Neurol 47:1239-1242, Bromberg,M.B.,et al, 1990
Retinitis Pigmentosa
Surv Ophthalmol 33:137-177, Pagon,R.A., 1988
Chronic Demyelinating Peripheral Neuropathy in Cerebrotendinous Xanthomatosis
Ann Neurol 20:89-91, Argov,Z.,et al, 1986
Long-Term Treatment of Cerebrotendinous Xanthomatosis with Chenodeoxycholic Acid
NEJM 311:1649-1652, Berginer,V.M.,et al, 1984
Ultrastructural, Neurological, & Glycosaminoglycan Abnormalities in Lowe's Syndrome
Ann Neurol 16:40-49, Wisniewski,K.E.,et al, 1984
Computed Tomography in Cerebrotendinous Xanthomatosis
Neurol 31:1463-1465, Berginer,V.M.,et al, 1981
Idiopathic Hypoparathyroidism Presenting as Dementia
Neurol 29:393-394, Slyter,H., 1979
Peripheral Neuropathy in Cerebrotendinous Xanthomatosis
Neurol 29:880-881, Kuritzky,A.,et al, 1979
Cockayne Syndrome:Unusual Neuropathological Findings & Review of the Literature
Ann Neurol 6:340-348, 1979, Soffer,D.,et al, 1979
Genetic Counseling in Retinitis Pigmentosa
MCV Quart 8:283, Noah,V., 1972
Rubella, Clinical Manifestations & Management
Am J Dis Child 118:18-29, Cooper,L.Z.,et al, 1969