Detecting Susceptibility to Malignant Hyperthermia
BMJ 304:791-792, Ellis,F.R., 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
Brief Report:Intragenic Deletion of the Kalig-1 Gene in Kallmann's Syndrome
NEJM 326:1752-1755, 17751992., Bick,D.,et al, 1992
Familial Cluster Headache:Occurrence in Three Generations
Neurol 42:1399-1400, Spierings,E.L.H.&Vincent,A.J.P.E., 1992
Migraine:Theories of Pathogenesis
Lancet 339:1202-1207, Blau,J.N., 1992
Unstable DNA Sequence in Myotonic Dystrophy
Lancet 339:1125-1128, Harley,H.G.,et al, 1992
Progressive Language Disorder Due to Lobar Atrophy
Ann Neurol 31:174-183, Snowden,J.S.,et al, 1992
Progressive Vison Loss, A Rare Manifestation of Familial Cavernous Angiomas
Arch Neurol 49:170-173, Malik,S.,et al, 1992
Clinicopath Conf
Pick's Diseae, Case 6-1992, NEJM 326:397-405992., , 1992
Familial Neurofibromatosis Type 1:Clinical Experience with DNA Testing
J Pediatr 120:394-398, Hofman,K.J.&Boehm,C.D., 1992
Screening for von Hippel-Lindau Disease by DNA Polymorphism Analysis
JAMA 267:1226-1231, Glenn,G.M.,et al, 1992
Brain MRI and Electrophysiologic Abnormalities in Preclinical and Clinical Adrenomyeloneuropathy
Neurol 42:85-91, Aubourg,P.,et al, 1992
MR Imaging of the Spinal Cord in 23 Subjects with ALD-AMN Complex
AJR 158:413-416, Snyder,R.D.,et al, 1992
Familial Adult-Onset Muscular Dystrophy with Leukoencephalopathy
Ann Neurol 32:577-580, vanEngelen,B.G.M.,et al, 1992
Giant Axonal Neuropathy:Progressive Clinical and Radiologic CNS Involvement
Neurol 42:2220-2221, Richen,P.&Tandan,R., 1992
Analysis of the Prion Protein Gene in Thalamic Dementia
Neurol 42:1859-1863, Petersen,R.B.,et al, 1992
Familial Alzheimer's Disease:Second Gene Locus Located, Markers for Familial Disease May be Available
BMJ 305:1108-1109, Mullan,M., 1992
Facioscapulohumeral Dystrophy, In Skeletal Muscle Pathology
Churchhill Livingstone, NY, p285, 30392., Mastaglia,F.L.&Walton,J., 1992
Brief Report:Autosomal Dominant Familial Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia
NEJM 327:1069-1074, Bilous,R.W.,et al, 1992
Familial Rectal Pain:A Type of Reflex Epilepsy?
Ann Neurol 32:824-826, Schubert,R.&Cracco,J.B., 1992
Familial Creutzfeldt-Jakob Disease (Codon 200 Mutation) with Supranuclear Palsy
Bertoni. J. M. , et al, JAMA 268:2413-2415., , 1992
Delayed Diagnosis of Juvenile Myoclonic Epilepsy
JNNP 55:497-499, Grunewald,R.A.,et al, 1992
A Synd of Autosomal Dominant Alternating Hemiplegia:Mimicking Intractable Epilepsy; Chromosomal Studies; Physiol Investig
Neurol 42:2251-2257, Mikati,M.A.,et al, 1992
Occurrence of MS-Like Illness in Women Who Have a Leber's Hereditary Optic Neuropathy Mitochondrial DNA Mutation
Brain 115:979-989, Harding,A.E.,et al, 1992
Angelman Syndrome: Clinical Profile
J Child Neurol 7:270-280, Zori,R.T.,et al, 1992
Cockayne Syndrome: Review of 140 Cases
Am J Med Genet 42:68-84, Nance,M.A. &Berry,S.A., 1992
A Clinical Study of Noonan Syndrome
Arch Dis Child 67:178-183, Sharland, M.,et al, 1992
Fucosidosis Revisited:A Review of 77 Patients
Am J Med Genet 38:111-131, Willems,P.J.,et al, 1991
Cerebral Haemorrhage and Berry Aneurysm:Evidence from a Family for a Pattern of Autosomal Dominant Inheritance
JNNP 54:838-840, Shinton,R.,et al, 1991
Familial Association of Intracranial Aneurysms and Cervical Artery Dissections
Stroke 22:1426-1430, Schievink,W.I.,et al, 1991
Dopa-Responsive Dystonia:Long-Term Treatment Response and Prognosis
Neurol 41:174-181, Nygaard,T.G.,et al, 1991
Cesarean Section Before Onset of Labor & Motor Function in Infants with Meningomyelocele Diag Antenatally
NEJM 324:662-666, 6901991., Luthy,D.S.,et al, 1991
The Phenotype of the X-Linked Dystonia-Parkinsonism Syndrome, An Assessment of 42 Cases in the Philippines
Medicine 70:179-187, Lee,J.V.,et al, 1991
Preclinical Detection of Parkinson's Disease
Neurology Suppl 2, 41:5-921991., Koller,W.C.&Langston,J.W., 1991
MR of Progressive Neurodegenerative Change in Treated Menkes'Kinky Hair Disease
Neuroradiology 33:181-182, Johnsen,D.E.,et al, 1991
Globoid Cell Leukodystrophy:A Family with Both Late-Infantile and Adult Type
Neurol 41:1382-1384, Verdru,P.,et al, 1991
Clinical & Laboratory Findings in the Oculocerebrorenal Syndrome of Lowe, with Special Ref to Growth & Renal Function
NEJM 324:1318-1325, Charnas,L.R.,et al, 1991
Use of CT, MRI, & Localized 1H MR Spectroscopy in Canavan's Disease:A Case Report
Ann Neurol 30:106-110, Marks,H.G.,et al, 1991
Benign Familial Neonatal Convulsions:Evidence for Clinical and Genetic Heterogeneity
Ann Neurol 29:469-473, Ryan,S.G.,et al, 1991
Mental Retardation in Turner Syndrome
J Pediatr 118:415-417, VanDyke,D.L.,et al, 1991
Nystagmus of Pelizaeus-Merzbacher Disease
Arch Neurol 48:87-91, Trobe,J.D.,et al, 1991
Acetazolamide-Responsive Vestibulocerebellar Syndrome:Clinical & Oculographic Features
Neurol 41:429-433, Baloh,R.W.&Winder,A., 1991
Corticosteroid-Responsive Dominantly Inherited Neuropathy in Childhood
Neurol 41:437-439, Bird,S.J.&Sladky,J.T., 1991
Lisch Nodules in Neurofibromatosis Type I
NEJM 324:1264-1266, 1283-12851991., Lubs,M-L.E.,et al, 1991
Clinicopath Conf
Pheochromocytoma of Adrenal Gland, Von Hippel-Lindau Disease, Case 16-1991, NEJM 324:1119-112791., , 1991
VonHippel-Lindau Disease
Editorial, Lancet 337:10651991., , 1991
Homocystinuria Due to 5, 10-Methylenetetrahydrofolate Reductase Deficiency Revealed by Stroke in Adult Siblings
Neurol 41:1313-1315, Visy,J.M.,et al, 1991
Diagnostic Tests for Choreoacanthocytosis
Neurol 41:1000-1006, Feinberg,T.E.,et al, 1991
Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
Medicine 70:99-117, Gatti,R.A.,et al, 1991