FARS2 dificiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance
Mol Genet Metab 125:281-291, Almannai, M.,et al, 2018
Clinicopath Conf, Intravascular Large-B-Cell Lympoma
NEJM 362:1129-1138, Case 9-2010, 2010
Hereditary Hemorrhagic Telangiectasia
NEJM 333:918-924, Guttmacher,A.E.,et al, 1995
Portal-Systemic Encephalopathy:Presence of Basal Galglia Lesions with High Signal Intensity on MR Images
Radiology 179:551-555, Inoue,E.,et al, 1991
Vitamin E Deficiency Associated with Vision Loss & Bulbar Weakness
Ann Neurol 18:725-727, Larsen,P.D.,et al, 1985
Extrapulmonary Manifestations of Sarcoidosis
Rheum Dis Clin North Am 39:277-297, Rao,D.A. & Dellaripa,P.F., 2023
Current and Emerging Issues in Wilsons Disease
NEJM 389:922-938, Roberts,E.A. & Schilsky, M.L., 2023
Clinicopathologic Conference, Systemic Juvenile Idiopathic Arthritis
NEJM 385:1220-1229, Case 29-2021, 2021
A Middle-Aged Man with Progressive Gait Abnormalities
Neurol 97:e2423-e2428, Lin, J.,et al, 2021
Clinicopathologic Conference, Vascular Malformations in Liver, Stomach, Esophagus, and Lungs that are Consistent with Hereditary Hemorrhagic Telangiectasia, Complicated
NEJM 376:972-980, Case 7-2017, 2017
Acquired Hepatocerebral Degeneration
Neurol 87:e144, Bateman, J.R. & Roque, D.A., 2016
Brugada Syndrome in Spinal and Bulbar Muscular Atrophy
Neurol 82:1813-1821, Araki, A.,et al, 2014
Inherited Metabolic Diseases of the Nervous System, Hepatolenticular Degeneration (Wilson Disease)
Adams & Victors Principles of Neurology, Chp 37, pg 982, Ropper, A.H.,et al, 2014
Differential Diagnosis of Bilateral Abnormalities of the Basal Ganglia and Thalamus
RadioGraphics 31:5-30, Hegde,A.N.,et al, 2011
Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
UpToDate, Feb, Shovlin, C., 2011
Infectious Mononucleosis in Adults and Adolescents
UpToDate, May, Aronson,M.D. & Auwaerter,P.G., 2011
Clinicopath Conference, Cryptococcosis With Cryptococcal Meningitis in Liver Allograft Recipient
NEJM 358:1604-1613, Case 11-2008, 2008
MR Imaging Findings in Hepatic Encephalopathy
AJNR 29:1612-1621, Rovira,A.,et al, 2008
Secondary Stroke Prevention With Ximelagatran Versus Warfarin in Patients With Atrial Fibrillation: Pooled Analysis of SPORTIF III and V Clinical Trials
Stroke 38:874-880, Akins,P.T.,et al, 2007
Wilson Disease: Description of 282 Patients Evaluated Over 3 Decades
Medicine 86:112-121, Taly,A.B., et al, 2007
Brain Metal Concentrations in Chronic Liver Failure Patients With Pallidal T1 MRI Hyperintensity
Neurol 67:1984-1989, Klos,K.J.,et al, 2006
Ximelagatran vs Warfarin for Stroke Prevention in Patients with Nonvalvular Atrial Fibrillation
JAMA 293:690-698,736, SPORTIF Executive Steering Committee for the SPORTIF V Investigators, 2005
Acute Hepatic Encephalopathy with Diffuse Cortical Lesions
Neuroradiology 43:551-554, Arnold, S.M.,et al, 2001
Diagnosis and Treatment of Wilson's Disease
Semin Neurol 19:261-270, Brewer,G.J.,et al, 1999
Clinicopath Conf
Genetic Hemochromatosis, Micronodular Cirrhosis of Liver, Case 10-1997, NEJM 336:939-94797., , 1997
Manganese Toxicity in Children Receiving Long-Term Parental Nutrition
Lancet 347:1218-1221, Fell,J.M.E.,et al, 1996
Persistence of MRI Hyperintensity of the Globus Pallidus in Cirrhotic Patients:A 2-year Follow-up Study
Neurol 45:995-997, Kulisevsky,J.,et al, 1995
Manganese and Chronic Hepatic Encephalopathy
Lancet 346:270-274, Krieger,D.,et al, 1995
Hyperintense Globus Pallidus on T1-Weighted MRI in Cirrhotic Pts is Associated with Severity of Liver Failure
Neurol 43:65-69, Pujol,A.,et al, 1993
MRI Pallidal Hyperintensity & Brain Atrophy in Cirrhotic Pts:2 Different MRI Patterns of Clin Deterior?
Neurol 43:2570-2573, Kulisevsky,J.,et al, 1993
Wilson's Disease:Current Status
Am J Med 92:643-654, Yarze,J.C.,et al, 1992
Hyperintensity in the Globus Pallidus on T1-Weighted & Inversion-Recovery MRI:A Possible Marker of Advanced Liver Dise
Neurol 41:1526-1527, Pujol,A.,et al, 1991
Chronic Acquired Hepatic Failure:MR Imaging of the Brain at 1. 5 T
AJR 157:1111-1116, Brunberg,J.A.,et al, 1991
Neurologic Crises in Hereditary Tyrosinemia
NEJM 322:432-437, Mitchell,G.,et al, 1990
Clinical Assessment of 31 Patients with Wilson's Disease, Correlations with Struct. Changes on MRI
Arch Neurol 44:365-370, Starosta-Rubinstein,S.,et al, 1987
Nontraumatic Spinal Epidural & Subdural Hematomas
Neurol 37:1351-1356, Mattle,H.,et al, 1987
Acute Arsenic Intoxication Presenting as Guillain-Barre-Like Syndrome:Donofrio
P. D. , et al, Muscle & Nerve 10:114-120, , 1987
Ataxia-Telangiectasia:A Multisystem Hereditary Disease with Immunodeficiency
Ann Int Med 99:367-379, Waldmann,T.A.,et al, 1983
Idiopathic Hemochromatosis (IHC) :Dementia & Ataxia as Presenting Signs
Neurol 33:1479-1483, Royden,H.,et al, 1983