Persistence of Initial Infection in Recurrent Cryptococcus Neuformans Meningitis
Lancet 341:595-596, Spitzer,E.D.,et al, 1993
Unusual Variants of Alexander's Disease
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Misdiagnosis Revealed by Genetic Linkage Analysis in a Family with Wilson Disease
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Presymptomatic Diagnosis of Neurofibromatosis 2 Using Linked Genetic Markers, Neuroimging, and Ocular Examinations
Neurol 47:1269-1277, Baser,M.E., 1996
A Simplified Six-Item Checklist for Screening for Fragile X Syndrome in the Pediatric Population
J Pediatr 129:611-614, Giangreco,C.A.,et al, 1996
Direct Diagnosis of Myotonic Dystrophy with a Disease-Specific DNA Marker
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Direct Diagnosis by DNA Analysis of the Fragile X Syndrome of Mental Retardation
NEJM 325:1673-1681, Rousseau,F.,et al, 1991
Prenatal Diagnosis of Fragile X Syndrome by Direct Detection of the Unstable DNA Sequence
NEJM 325:1720-1738, Sutherland,G.R.,et al, 1991
Molecular Genetics of Duchenne and Becker Muscular Dystrophy
J Pediatr 117:1-15, Darras,B.T., 1990
Cytomegalovirus and Rasmussen's Encephalitis
Lancet 336:1282-1284, Power,C.,et al, 1990
Distinction of Becker from Limb-Girdle Muscular Dystrophy by Means of Dystrophin cDNA Probes
Lancet 1:466-468, Norman,A.,et al, 1989
Genetic Abnormalities in Duchenne and Becker Dystrophies:Clinical Correlations
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Molecular and Clinical Correlations of Deletions Leading to Duchenne and Becker Muscular Dystrophies
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Molecular Biology of Duchenne and Becker's Muscular Dystrophy:Clinical Applications
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Prenatal Testing for Duchenne & Becker Muscular Dystrophy
Lancet 1:262-266, Cole,C.G.,et al, 1988
Retinitis Pigmentosa
Surv Ophthalmol 33:137-177, Pagon,R.A., 1988
Effective Strategy for Prenatal Prediction of Duchenne & Becker Muscular Dystrophy
Lancet 2:1294-1296, Forrest,S.M.,et al, 1987
Location of the Gene for X-Linked Spinal Muscular Atrophy
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