Tay-Sachs Disease-Carrier Screening, Prenatal Diagnosis, and the Molecular Era
JAMA 270:2307-2315, Kaback,M.,et al, 1993
Lissencephaly:A Human Brain Malformation Associated with Deletion of the LIS1 Gene Located at Chromosome 17p13
JAMA 270:2838-2842, Dobyns,W.B.,et al, 1993
Skeletal Muscle Toxoplasmosis in Patients with Acquired Immunodeficiency Syndrome:A Clinicopath Study
Ann Neurol 32:535-542, Gherardi,R.,et al, 1992
Mosaic Express of Dystrophin in Carriers of Becker's Muscular Dyst & X-Linked Synd of Myalgia & Cramps
NEJM 327:1100, Minetti,C.&Bonilla,E., 1992
Facioscapulohumeral Dystrophy, In Skeletal Muscle Pathology
Churchhill Livingstone, NY, p285, 30392., Mastaglia,F.L.&Walton,J., 1992
Parkinson's Disease in Twins Studied with 18 F-Dopa and Positron Emission tomography
Neurol 42:1894-1900, Burn,D.J.,et al, 1992
Central Nervous System Lesions in von Hippel-Lindau Syndrome
JNNP 55:898-901, Neumann,H.P.H.,et al, 1992
Clinicopath Conf
Emery-Dreifus Muscular Dystrophy, NEJM 327:548-5571992., , 1992
Duplication of Part of Chromosome 17 is Commonly Associated with HMSN Type I (Charcot-Marie-Tooth Disease Type 1)
Ann Neurol 31:570-572, Hallam,P.J.,et al, 1992
De-Novo Mutation in Hereditary Motor and Sensory Neuropathy Type I
Lancet 339:1081-1082, Hoogendijk,J.E.,et al, 1992
Genetic Diagnosis of Gaucher's Disease
Lancet 339:889-892, Mistry,P.K.,et al, 1992
The Biology of Developmental Dyslexia
JAMA 268:912-915, Rumsey,J.M., 1992
Causal Heterogeneity in Isolated Lissencephaly
Neurol 42:1375-1388, Dobyns,W.B.,et al, 1992
Population Screening for Fragile X
Lancet 339:1210-1213, Turner,G.,et al, 1992
GM1 Gangliosidosis in Adults:Clinical and Molecular Analysis of 16 Japanese Patients
Ann Neurol 31:328-332, Yoshida,K.,et al, 1992
Clinicopath Conf
Churg-Strauss Syndrome, Case 18-1992, NEJM 326:1204-1212992., , 1992
Cerebromeningeal Haemophagocytic Lymphohistiocytosis
Lancet 239:104-107, Henter,J.&Elinder,G., 1992
Clinicopath Conf, Herpes Simplex Encephalitis
Am J Med 93:327-334, Krogstad,D., 1992
The First Decade of Molecular Genetics in Neurology:Changing Clinical Thought and Practice
Ann Neurol 32:207-214, Rowland,L.P., 1992
Thyrotoxic Periodic Paralysis in the US, Report of 7 Cases & Review of the Literature
Medicine 71:109-120, Ober,K.P., 1992
Rasmussen's Encephgalitis:Neuroimaging Findings in Four Patints
AJR 158:1329-1332, Tien,R.D.,et al, 1992
Unstable DNA Sequence in Myotonic Dystrophy
Lancet 339:1125-1128, Harley,H.G.,et al, 1992
Hypomelanosis of Ito
Editorial, Lancet 339:651-6521992., , 1992
A Clinical Study of Noonan Syndrome
Arch Dis Child 67:178-183, Sharland, M.,et al, 1992
Clinical Genetics and Genetic Counseling in Alzheimer Disease
Ann Int Med 115:601-606, Breitner,J.C.S., 1991
Chronic Cardiomyopathy and WEakness or Acute Coma in Children with a Defect in Carnitine Uptake
Ann Neurol 30:709-716, Stanley,C.A.,et al, 1991
Staphylococcal Pyomyositis in Patients Infected by the Human Immunodeficiency Virus
Am J Med 90:595-600, Schwartzman,W.A.,et al, 1991
Pyomyositis in Patients with the Human Immunodeficiency Virus:An Unusual Form of Disseminated Bacterial Infection
Am J Med 91:129-136, Widrow,C.A.,et al, 1991
Pyomyositis Presenting as Rapidly Progressive Generalized Weakness
Neurol 41:944-945, Felice,K.,et al, 1991
Clinical and Electrodignostic Features of X-Linked Recessive Bulbospinal Neuronopathy
Neurol 41:823-828, Olney,R.K.,et al, 1991
Preclinical Detection of Parkinson's Disease
Neurology Suppl 2, 41:5-921991., Koller,W.C.&Langston,J.W., 1991
Autosomal Recessive Distal Dystrophy
Neurol 41:1365-1370, Barohn,R.J.,et al, 1991
Welander's Distal Myopathy:Clinical Neurophysiol & Muscle Biopsy Obser in Young & Middle Aged Adults with Early Symptoms
JNNP 54:494-498, Borg,K., 1991
Cervical Dystonia:Clinical Findings and Associated Movement Disorders
Neurol 41:1088-1091, Jankovic,J.,et al, 1991
Rickettsial Meningitis and Encephalitis
Arch Int Med 151:1753-1757, Silpapojakul,K.,et al, 1991
Lisch Nodules in Neurofibromatosis Type I
NEJM 324:1264-1266, 1283-12851991., Lubs,M-L.E.,et al, 1991
Diagnostic Tests for Choreoacanthocytosis
Neurol 41:1000-1006, Feinberg,T.E.,et al, 1991
Eosinophilia-Myalgia Syndrome, A Clinical Case Series of 21 Patients
Arch Int Med 151:533-537, Philen,R.M.,et al, 1991
Congenital Monomelic Hypertrophy with Progressive Myopathy
Arch Neurol 48:107-110, Shukla,A.,et al, 1991
Ocular Manifestations of AIDS
JAMA 266:3019-3022, deSmet,M.D.&Nussenbatt,R.B., 1991
A Disorder of Azonal Development, Necrotizing Myopathy, Cardiomyopathy, and Cataracts:A New Familial Disease
Ann Neurol 27:193-199, Lyon,G.,et al, 1990
Preliminary Report:Activation of the Cerebellum in Essential Tremor
Lancet 336:1028-1030, Colebatch,J.G.,et al, 1990
Progressive Myopathy in Hyperkalemic Periodic Paralysis
Arch Neurol 47:1013-1017, Bradkey,W.G.,et al, 1990
Molecular Genetics of Duchenne and Becker Muscular Dystrophy
J Pediatr 117:1-15, Darras,B.T., 1990
Peripheral Neuropathy in the Eosinophilia-Myalgia Syndrome Associated with L-Tryptophan Ingestion
Neurol 40 1035-1040, Smith,B.E.&Dyck,P.J., 1990
Association of the Eosinophilia-Myalgia Syndrome with the Ingestion of Tryptophan
NEJM 322:869-873, 9261990., Hertzman,P.A.,et al, 1990
Neuronal Intranuclear Inclusion Disease in a Child:Diagnosis by Rectal Biopsy
Ann Neurol 27:103-106, Goutieres,F.,et al, 1990
Clinicopath Conf
Acute Febrile Neutrophilic Dermatosis (Sweet's Syndrome) , Case 30-1990, NEJM 323:254-2630., , 1990
Polyneuropathy, Ophthalmoplegia, Leukoencephalopathy, and Intestinal Pseudo-Obstruction:POLIP Syndrome
Ann Neurol 28:349-360, Simon,L.T.,et al, 1990
Viral Encephalitis
NEJM 323:242-250, Whitley,R.J., 1990