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
Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
UpToDate, Feb, Shovlin, C., 2011
Hereditary Hemorrhagic Telangiectasia
NEJM 333:918-924, Guttmacher,A.E.,et al, 1995
A Middle-Aged Man with Progressive Gait Abnormalities
Neurol 97:e2423-e2428, Lin, J.,et al, 2021
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
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
Clinicopath Conf, Intravascular Large-B-Cell Lympoma
NEJM 362:1129-1138, Case 9-2010, 2010
Liver Involvement in Celiac Disease
Minerva Med 99:595-604, Rubio-Tapia,A. & Murray,J.A., 2008
Secondary Stroke Prevention With Ximelagatran Versus Warfarin in Patients With Atrial Fibrillation: Pooled Analysis of SPORTIF III and V Clinical Trials
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Wilson Disease: Description of 282 Patients Evaluated Over 3 Decades
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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
Is Coagulopathic Liver Disease a Factor in Spontaneous Cerebral Hemorrhage?
J Comput Assist Tomogr 26:69-72, Lee,H. &Hinrichs,C.R., 2002
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
Predictive Factors of In-Hospital CNS Complications Following Liver Transplantation
Neurol 44:1226-1230, Pujol,A.,et al, 1994
Wilson's Disease:Current Status
Am J Med 92:643-654, Yarze,J.C.,et al, 1992
A Patient with Primary Biliary Cirrhosis and Multiple Sclerosis
Am J Med 92:433-436, Pontecorvo,M.J.,et al, 1992
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
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