Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Congenital Lymphocytic Choriomeningitis Virus Infection: Spectrum of Disease
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The Tuberous Sclerosis Complex
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Oligophrenin 1 Mutations Frequently Cause X-Linked Mental Retardation with Cerebellar Hypoplasia
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Fluid Attenuation Inversion Recovery (FLAIR) Images of Dentatorubropalliodoluysian Atrophy:Case Report
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Bilat Periventricular Nodular Heterotopia with Mental Retard & Syndactyly in Boys:New X-Linked MR Synd
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The Epilepsy of Trisomy 9p
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
NEJM 335:1169-1175, 12221996., Durr,A.,et al, 1996
Methylmercury Poisoning:Long-Term Clinical, Radiological, Toxicological, and Pathological Studies of an Affected Family
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New Research in Tuberous Sclerosis, Probably More Common with More Adult Complications
BMJ 304:1647-1648, Mitchell,S.&Bradbeer,C., 1992
Wolfram Syndrome:Evidence of a Diffuse Neurodegenerative Disease by Magnetic Resonance Imaging
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Cerebellar Symptoms as Presenting Manifest of Bilirubin Encephal in Children with Crigler-Najjar Type I Disease
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Angelman Syndrome: Clinical Profile
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MR of Progressive Neurodegenerative Change in Treated Menkes'Kinky Hair Disease
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Perinatal Loss and Neurological Abnormalities Among Children of the Atomic Bomb
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Cerebral Cortex and Brainstem Involvement in Marinesco-Sjogren Syndrome
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The Marinesco-Sjogren Syndrome Examined by CT, MR, and 18F-2-Fluoro-2-Deoxy-D-Glucose & PET
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Retinitis Pigmentosa
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Clinicopath Conf
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Nevoid Basal Cell Carcinoma Syndrome & Epilepsy
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Neurological Involvement in the Epidermal Naevus Syndrome
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Kearns-Sayre Syndrome with Hypoparathyroidism
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Familial Chorea & Myoclonus Epilepsy
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The Thyroid Gland:Its Relationship to Neurology
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Genetic Counseling in Retinitis Pigmentosa
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