Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Fatal Familial Insomnia, A Prion Disease with a Mutation at Codon 178 of the Prion Protein Gene
NEJM 326:444-449, Medori,R.,et al, 1992
Central Nervous System Lesions in von Hippel-Lindau Syndrome
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Von Hippel-Lindau Disease Affecting 43 Members of a Single Kindred
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The Molecular Genetic Revolution, Its Impact on Clinical Neurology
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Alexander Disease, Ventricular Garlands and Abnormalities of the Medulla and Spinal Cord
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Genetic Factors in Alzheimer's Disease:A Review of Recent Advances
Ann Neurol 40:829-840, Levy-Lahad,E.&Bird,T.D., 1996
Molecular Genetics in Neurology
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Familial Neurofibromatosis Type 1:Clinical Experience with DNA Testing
J Pediatr 120:394-398, Hofman,K.J.&Boehm,C.D., 1992
Recent Progress Toward Understanding the Molecular Biology of Von Recklinghausen Neurofibromatosis
Ann Neurol 31:555-561, Gutmann,D.H.&Collins,F.S., 1992
Detecting Susceptibility to Malignant Hyperthermia
BMJ 304:791-792, Ellis,F.R., 1992
Brief Report:Intragenic Deletion of the Kalig-1 Gene in Kallmann's Syndrome
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Genetic Susceptibility to Multiple Sclerosis Linked to Myelin Basic Protein Gene
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Linkage of a Gene Causing Familial ALS to Chromosome 21 & Evidence of Genetic-Locus Heterogeneity
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Neurofibromatosis 2 (Bilateral Acoustic Neurofibromatosis) An Update
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Prion Dementia Without Characteristic Pathology
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Mapping of Acute (Type 1) Spinal Muscular Atrophy to Chromosome 5q12-q14
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Spinal Muscular Atrophies
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Diagnosis of Gerstmann-Straussler Syndrome in Familial Dementia with Prion Protein Gene Analysis
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