Girls with Fragile X Syndrome:Physical and Neurocognitive Status and Outcome
Pediatrics 89:395-400, Hagerman,R.J.,et al, 1992
Familial Inclusion Body Myositis:Evidence for Autosomal Dominant Inheritance
Neurol 42:897-902, Nevile,H.E.,et al, 1992
Clinicopath Conf
Emery-Dreifus Muscular Dystrophy, NEJM 327:548-5571992., , 1992
Intrafamilial Heterogeneity in Hereditary Motor Neuron Disease
Neurol 42:1488-1492, Applebaum,J.S.,et al, 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
Werdnig-Hoffman Disease & Chronic Distal Spinal Muscular Atrophy with Apparent Autosomal Dom Inherit
Ann Neurol 32:404-407, Boylan,K.B.&Cornblath,D.R., 1992
Genetic Diagnosis of Gaucher's Disease
Lancet 339:889-892, Mistry,P.K.,et al, 1992
Parkinson's Disease in Twins
Neurol 42:1453-1461, Vieregge,P.,et al, 1992
The Biology of Developmental Dyslexia
JAMA 268:912-915, Rumsey,J.M., 1992
Postneonatal Vitamin B6-Dependent Epilepsy
Pediatr 90:221-223, Coker,S.B., 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
Central Nervous System Lesions in von Hippel-Lindau Syndrome
JNNP 55:898-901, Neumann,H.P.H.,et al, 1992
The Psychological Consequences of Predictive Testing for Huntington's Disease
NEJM 327:1401-1405, 14491992., Wiggins,S.,et al, 1992
Familial Multiple Sclerosis:MRI Findings in Clinically Affected and Unaffected Siblings
JNNP 55:883-886, Teinari,P.J.,et al, 1992
Genetic Susceptibility to Multiple Sclerosis Linked to Myelin Basic Protein Gene
Lancet 340:987-991, Tienari,P.J.,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
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
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
A Study of Twins and Stroke
Stroke 23:221-223, Brass,L.M.,et al, 1992
Clinicopath Conf
Huntington's Diseae, Case2-1992, NEJM 326:117-125992., , 1992
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
Fatal Familial Insomnia:Clinical and Pathologic Study of Five New Cases
Neurol 42:312-319, Manetto,V.,et al, 1992
The Chiari Type I Malformation in Two Monozygotic Twins and First-Degree Relatives
Ann Neurol 31:220-222, Stovner,L.J.,et al, 1992
Hypomelanosis of Ito
Editorial, Lancet 339:651-6521992., , 1992
A Chronic Illness of Fatigue, Neurologic and Immunologic Disorders, & Active Human Herpesvirus Type 6 Infection
Ann Int Med 116:103-113, Buchwald,D.,et al, 1992
Cortically Evoked Motor Responses in Patients with Xp22. 3-Linked Kallmann's Syndrome and in Female Gene Carriers
Ann Neurol 31:299-304, Danek,A.,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
Detection of Full Fragile X Mutation
Lancet 339:271-272, Pergolizzi,R.G.,et al, 1992
Recent Progress Toward Understanding the Molecular Biology of Von Recklinghausen Neurofibromatosis
Ann Neurol 31:555-561, Gutmann,D.H.&Collins,F.S., 1992
Familial Intracranial Aneurysms, A Review
Stroke 23:1024-1030, terBerg,H.W.M.,et al, 1992
Familial Intracranial Haemorrhage Due to Factor V Deficiency
JNNP 55:227-228, Wadia,R.S.,et al, 1992
A Familial Disorder with Subcortical Ischemic Strokes, Dementia, and Leukoencephalopathy
Neurol 42:1015-1019, Mas,J.L.,et al, 1992
Presymptomatic Testing for Huntington's Disease in the United Kingdom
BMJ 304:1593-1596, Tyler,A.,et al, 1992
New Research in Tuberous Sclerosis, Probably More Common with More Adult Complications
BMJ 304:1647-1648, Mitchell,S.&Bradbeer,C., 1992
Wilson Disease
Medicine 71:139-164, Brewer,G.J.&Yuzbasiyan-Gurkan,V., 1992
Wilson's Disease:Current Status
Am J Med 92:643-654, Yarze,J.C.,et al, 1992
Prenatal Diagnosis of Wilson's Disease by Analysis of DNA Polymorphism
NEJM 327:57, Cossu,P.,et al, 1992
Clinicopath Conf
Infantile Striatonigral Regeneration, with Cerebellar Degeneration, Familial, Case 30-1992, NEJM 327, 261-1992., 1992
Startle Disease, or Hyperrekplexia:Clonazepam and Assign of Gene (STHE) to Chromosoma 5q by Linkage Analysis
Ann Neurol 31:663-668, Ryan,S.G.,et al, 1992
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
Human Herpesvirus-6:Clinical Implications of a Recently Discovered, Ubiquitous Agent
J Pediatr 121:173-181, Leach,C.T.,et al, 1992
Brief Report:Intragenic Deletion of the Kalig-1 Gene in Kallmann's Syndrome
NEJM 326:1752-1755, 17751992., Bick,D.,et al, 1992