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aminoacidopathies
antibodies to voltage-gated calcium channels
ataxia
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spinocerebellar ataxia type 1
spinocerebellar ataxia type 2
spinocerebellar ataxia type 3/Machado Joseph disease
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tonic foot response
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trinucleotide repeats
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Showing articles 800 to 850 of 1369 << Previous Next >>

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

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

Human Herpesvirus-6 DNA in Cerebrospinal Fluid of a Child with Exanthem Subitum and Meningoencephalitis
Pediatrics 89:888-890, Yoshikawa,T.,et al, 1992

Unstable DNA Sequence in Myotonic Dystrophy
Lancet 339:1125-1128, Harley,H.G.,et al, 1992

Familial Spinal Neurofibromatosis:Clinical and DNA Linkage Analysis
Neurol 41:1923-1927, Pulst,S.M.,et al, 1991

Localization of Idiopathic Generalized Epilepsy on Chromosome 6p in Families of Juvenile Myoclonic epilepsy patients
Neurol 41:1651-1655, Durner,M.,et al, 1991

Monozygotic Twins with Seizures, Shared Characteristics
Arch Neurol 48:1041-1045, Segal,R.A.,et al, 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

The Spongiform Encephalopathies, Editorial
JNNP 54:761-763, Will,R.G., 1991

More Bad Luck for the X Chromosome:Thalassaemia/Mental Retardation
Lancet 338:1562-1563, , 1991

Clinical Genetics and Genetic Counseling in Alzheimer Disease
Ann Int Med 115:601-606, Breitner,J.C.S., 1991

Discordance and Concordance of Dementia of the Alzheimer Type (DAT) in Monozygotic Twins
Neurol 41:1549-1553, Rapoport,S.I.,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

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

Dopa-Responsive Dystonia:Long-Term Treatment Response and Prognosis
Neurol 41:174-181, Nygaard,T.G.,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



Showing articles 800 to 850 of 1369 << Previous Next >>