Congential Deficienty of Factor VII in Subarachnoid Hemorrhage
Stroke 25:508-510, Papa,M.L.,et al, 1994
Cerebrotendinous Xanthomatosis:Molecular Diagnosis Enables Presymptomatic Detection of a Treatable Disease
Neurol 44:288-290, Meiner,V.,et al, 1994
Clinical and Biochemical Features of 10 Adult Patients with Muscle Phosphorylase Kinase Deficiency
Neurol 44:461-466, Wilkinson,D.A.,et al, 1994
Advances in Molecular Analysis of Fragile X Syndrome
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Specific Learning Disability in Children with Neurofibromatosis Type 1:Significance of MRI Abnormalities
Neurol 44:878-883, North,K.,et al, 1994
Mitochondrial Neurogastrointestinal Encephalomyopathy (MMGIE) :Clin Biochem & Genetic Features of Auto Recess Mitochond Disorder
Neurol 44:721-727, Hirano,M.,et al, 1994
Methylmercury Poisoning:Long-Term Clinical, Radiological, Toxicological, and Pathological Studies of an Affected Family
Ann Neurol 35:680-688, Davis,L.E.,et al, 1994
Reduced GABA Synthesis in Pyridoxine-Dependent Seizures
Lancet 343:1133-1134, Gospe,S.M.,et al, 1994
Lower Cognitive Performance in Normal Older Adult Male Twins Carrying the Apolipoprotein E-E4 Allele
Arch Neurol 51:1189-1192, Reed,T.,et al, 1994
Rapid Fragile X Carrier Screening and Prenatal Diagnosis Using a Nonradioactive PCR Test
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Choroido-Cerebral Calcification Syndrome with Retardation
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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
Molecular Genetic Heterogeneity of Myophosphorylase Deficiency (McArdle's Disease)
NEJM 329:241-245, Tsujino,S.,et al, 1993
Distribution of Atherosclerosis and Risk Factors in Atherothrombotic Occlusion
Stroke 24:206-211, Yasaka,M.,et al, 1993
Congenital Bilateral Perisylvian Syndrome:Study of 31 Patients
Lancet 341:608-612, Kuzniecky,R.,et al, 1993
Intramedullary Spinal Sarcoidosis:Clinical and Magnetic Resonance Imaging Characteristics
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Ornithine Transcarbamylase Deficiency Presenting with Strokelike Episodes
J Pediatrics 122:423-425, Christodoulou,J.,et al, 1993
Molecular Genetic Advances in Fragile X Syndrome
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Cockayne Syndrome: Review of 140 Cases
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Angelman Syndrome: Clinical Profile
J Child Neurol 7:270-280, Zori,R.T.,et al, 1992
A Clinical Study of Noonan Syndrome
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A Synd of Autosomal Dominant Alternating Hemiplegia:Mimicking Intractable Epilepsy; Chromosomal Studies; Physiol Investig
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Twinning and Neurologic Morbisity
Am J Dis Child 146:1110-1113, Scheller,J.M.&Nelson,K.B., 1992
Genetic Diagnosis of Gaucher's Disease
Lancet 339:889-892, Mistry,P.K.,et al, 1992
Causal Heterogeneity in Isolated Lissencephaly
Neurol 42:1375-1388, Dobyns,W.B.,et al, 1992
Psychiatric Disturbances in Metachromatic Leukodystrophy
Arch Neurol 49:401-406, Hyde,T.M.,et al, 1992
Autoantibody Against Oxidised LDL and Progression of Carotid Atherosclerosis
Lancet 339:883-900, Salonen,J.T.,et al, 1992
Antibodies to Oxidised LDL in Atherosclerosis
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Familial Intracranial Haemorrhage Due to Factor V Deficiency
JNNP 55:227-228, Wadia,R.S.,et al, 1992
New Research in Tuberous Sclerosis, Probably More Common with More Adult Complications
BMJ 304:1647-1648, Mitchell,S.&Bradbeer,C., 1992
Hypomelanosis of Ito
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Brain MRI and Electrophysiologic Abnormalities in Preclinical and Clinical Adrenomyeloneuropathy
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Clinicopath Conf
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Detection of Full Fragile X Mutation
Lancet 339:271-272, Pergolizzi,R.G.,et al, 1992
Protein S Deficiency in Middle-Aged Women with Stroke
Neurol 42:1029-1033, Green,D.,et al, 1992
Girls with Fragile X Syndrome:Physical and Neurocognitive Status and Outcome
Pediatrics 89:395-400, Hagerman,R.J.,et al, 1992
Hallervorden-Spatz Syndrome and Brain Iron Metabolism
Arch Neurol 48:1285-1293, Swaiman,K.F., 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
Clinical Correlates of White-Matter Changes on Magnetic Resonance Imaging Scans of the Brain
Arch Neurol 48:1015-1021, Mirsen,T.R.,et al, 1991
Regression of Carotid Plaques During Low Density Lipoprotein Cholesterol Elimination
Stroke 22:989-992, Hennerici,M.,et al, 1991
Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
Medicine 70:99-117, Gatti,R.A.,et al, 1991
MR of Progressive Neurodegenerative Change in Treated Menkes'Kinky Hair Disease
Neuroradiology 33:181-182, Johnsen,D.E.,et al, 1991
Fucosidosis Revisited:A Review of 77 Patients
Am J Med Genet 38:111-131, Willems,P.J.,et al, 1991
The Marinesco-Sjogren Syndrome Examined by CT, MR, and 18F-2-Fluoro-2-Deoxy-D-Glucose & PET
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Hyperammonemia in Women with a Mutation at the Ornithine Carbamoyltransferase Locus
NEJM 322:1652-1669, Arn,P.H.,et al, 1990
Hematologic Disorders and Ischemic Stroke
Stroke 21:1111-1121, Hart,R.G.&Kanter,M.C., 1990
Neurofibromatosis Type I in Children
J Pediatr 116:845-853, Listernick,R.&Charrow,J., 1990
Superior Sagittal Sinus Thrombosis in a Patient with Protein S Deficiency
Stroke 21:633-636, Cros,D.,et al, 1990
Recurrent Meningitis in a Patient with Congenital Deficiency of the C9 Component of Complement
Arch Int Med 150:2395-2399, Zoppi,M.,et al, 1990
Cerebrotendinous Xanthomatosis:Clinical and MRI Study (A Case Report)
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