Molecular Genetic Advances in Fragile X Syndrome
J Pediatr 122:169-185, Tarleton,J.C.&Saul,R.A., 1993
Molecular Genetics in Neurology
Ann Neurol 34:757-773, Martin,J.B., 1993
Rapid Fragile X Carrier Screening and Prenatal Diagnosis Using a Nonradioactive PCR Test
JAMA 270:1569-1575, Brown,W.,et al, 1993
Detection of Full Fragile X Mutation
Lancet 339:271-272, Pergolizzi,R.G.,et al, 1992
Population Screening for Fragile X
Lancet 339:1210-1213, Turner,G.,et al, 1992
Clinicopathologic Conference, Chagas Disease
NEJM 393:1216-1225, Case 27-2025, 2025
AIDS - Related Lymphomas: Primary CNS Lymphoma
UpToDate, April, Doweiko, J.P., 2010
Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
Brain 129:1674-1684, Horvath, R.,et al, 2006
Clinical Features and Diagnosis of Primary Central Nervous System Lymphoma
Hematol Oncol Clin North Am 19:689-703, Fitzsimmons,A.,et al, 2005
Role of Brain Biopsy in the Management of Focal Brain Lesions in HIV-Infected Patients
Neurol 54:993-997, Antinori,A.,et al, 2000
Association Between Early-Onset Parkinson's Disease and Mutations in the Parkin Gene
NEJM 342:1560-1567, Lucking,C.B.,et al, 2000
Value of Combined Approach with Thallium-201 Single-Proton Emission Computed Tomography and Epstein-Barr Virus DNA Polymerase Chain Reaction in CSF for the Diagnosis of AIDS-Related Primary CNS Lympho
J Clin Oncol 17:554-560, Antinori,A.,et al, 1999
Fluid Attenuation Inversion Recovery (FLAIR) Images of Dentatorubropalliodoluysian Atrophy:Case Report
JNNP 65:396-399, Yoshii,F.,et al, 1998
Clinicopath Conf
Arteritis, Unclassified, with Giant-Cell Reaction & Multiple Infarcts of the Brain & Neuropathy, Cas, 5-199532:452-459,1995., 1995
Cerebrotendinous Xanthomatosis:Molecular Diagnosis Enables Presymptomatic Detection of a Treatable Disease
Neurol 44:288-290, Meiner,V.,et al, 1994
Advances in Molecular Analysis of Fragile X Syndrome
552, Warren,W.T.&Nelson,D.L.JAMA 271:536-553, 1994
Direct Diagnosis of Myotonic Dystrophy with a Disease-Specific DNA Marker
NEJM 328:471-475, Shelbourne,P.,et al, 1993
Molecular Genetic Heterogeneity of Myophosphorylase Deficiency (McArdle's Disease)
NEJM 329:241-245, Tsujino,S.,et al, 1993
Charcot-Marie-Tooth Disease Type 1A:Association with a Spontaneous Point Mutation in the PMP22 Gene
NEJM 329:96-101, Roa,B.B.,et al, 1993
Genetic Diagnosis of Gaucher's Disease
Lancet 339:889-892, Mistry,P.K.,et al, 1992
Mutation of the Prion Protein in Libyan Jews with Creutzfeldt-Jakob Disease
NEJM 324:1091-1097, Hsiao,K.,et al, 1991
Molecular Genetics of Duchenne and Becker Muscular Dystrophy
J Pediatr 117:1-15, Darras,B.T., 1990