The Marinesco-Sjogren Syndrome Examined by CT, MR, and 18F-2-Fluoro-2-Deoxy-D-Glucose & PET
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Inherited Human Prion Diseases
Neurol 40:1820-1827, Hsiao,K.&Prusiner,S.B., 1990
Neurofibromatosis Type I in Children
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Prion Dementia Without Characteristic Pathology
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Hyperammonemia in Women with a Mutation at the Ornithine Carbamoyltransferase Locus
NEJM 322:1652-1669, Arn,P.H.,et al, 1990
Cerebrotendinous Xanthomatosis:Clinical and MRI Study (A Case Report)
JNNP 53:76-78, Fiorelli,M.,et al, 1990
A Disorder of Azonal Development, Necrotizing Myopathy, Cardiomyopathy, and Cataracts:A New Familial Disease
Ann Neurol 27:193-199, Lyon,G.,et al, 1990
Follow-up and Diagnostic Reappraisal of 75 Patients with Leber's Congenital Amaurosis
Am J Ophthalmol 107:624-631, Lambert,S.R.,et al, 1989
Gerstmann-Straussler-Scheinker Disease, I, Extending the Clinical Spectrum
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Neurologic Complications in Long-Standing Nephropathic Cystinosis
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Adult-Onset Adrenoleukodystrophy Manifesting as Dementia
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Congenital Muscular Dystrophy
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Familial Idiopathic Striopallidodentate Calcifications
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Acute Profound Dystonia in Infants with Glutaric Acidemia
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Ethanol and the Nervous System
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Diagnosis of Gerstmann-Straussler Syndrome in Familial Dementia with Prion Protein Gene Analysis
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Anderson-Fabray Disease, A Commonly Missed Diagnosis
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MR Imaging of a Group I Case of Hallervorden-Spatz Disease
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Dementia in Down's Syndrome:Cerebral Glucose Utilization, Neuropsychological Assessment, and Neuropathology
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Risk of Dementia in Relatives of Patient with Alzheimer's Disease
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Rett Syndrome:Natural History and Management
Pediatrics 82:1-10, Moeschler,J.B.,et al, 1988
Familial Oculoleptomeningeal Amyloidosis, Report of a New Family with Unusual Features
Arch Neurol 45:1118-1122, Uitti,R.J.,et al, 1988
Hereditary Dentatorubral-Pallidoluysian Atrophy:Clinical and Pathologic Variants in a Family
Neurol 38:1065-1070, Takahashi,H.,et al, 1988
Emery-Dreifuss Muscular Dystrophy:Disease Spectrum and Differential Diagnosis
Neuropediatrics 19:62-71, Voit,T.,et al, 1988
Retinitis Pigmentosa
Surv Ophthalmol 33:137-177, Pagon,R.A., 1988
Cerebral Amyloid Angiopathy, A Critical Review
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Clinical Assessment of 31 Patients with Wilson's Disease, Correlations with Struct. Changes on MRI
Arch Neurol 44:365-370, Starosta-Rubinstein,S.,et al, 1987
Dementia of the Alzheimer Type:Clinical & Family Study of 22 Twin Pairs
Neurol 37:359-363, Nee,L.E.,et al, 1987
Incontinentia Pigmenti:Association with Anterior Horn Cell Degeneration
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Risk Factors for Alzheimer's Disease:A Case-Control Study
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Cerebral Ventricular Dilation in Congenital Myotonic Dystrophy
J Pediatr 111:372-376, Regev,R.,et al, 1987
MELAS Syndrome Involving a Mother & Two Children
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Magnetic Resonance Imaging in Pelizaeus-Merzbacher Disease
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MR Imaging in a Case of Hallervorden-Spatz Disease
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Preventive Screening for Fragile X Syndrome
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Gerstmann-Straussler-Scheinker Disease:Autopsy Study of a Familial Case
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Familial Myoclonic Dementia Masquerading as Creutzfeldt-Jakob Disease
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Infantile Bilateral Striatal Necrosis, Clinicopathological Classification
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Neurological Manifestations in Xeroderma Pigmentosum
Ann Neurol 20:70-75, Mimaki,T.,et al, 1986
Chronic Demyelinating Peripheral Neuropathy in Cerebrotendinous Xanthomatosis
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Portal-Systemic Myelopathy after Portacaval Shunt Surgery
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Vacuolar Myelopathy Pathologically Resembling Subacute Combined Degeneration in Patients with AIDS
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Clinical Findings in Four Children with Biotinidase Deficiency Detected Through a Statewide Neonatal Screening Program
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Carbonic Anhydrase II Deficiency in 12 Families with Osteopetrosis with Renal Tubular Acidosis & Cerebral Calcification
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Late-Onset Hallervorden-Spatz Disease Presenting as Familial Parkinsonism
Neurol 35:227-234, Jankovic,J.,et al, 1985
Neurological Findings in Patients with the Fragile-X Syndrome
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Metachromatic Leukodystrophy Manifesting as a Schizophrenic Disorder:Computed Tomographic Correlation
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Olivopontocerebellar Atrophy with Dementia, Blindness, & Chorea, Response to Baclofen
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Ultrastructural, Neurological, & Glycosaminoglycan Abnormalities in Lowe's Syndrome
Ann Neurol 16:40-49, Wisniewski,K.E.,et al, 1984