Severe Neurologic Complications After Hematopoietic Stem Cell Transplantation in Children
Neurol 59:1895-1904,E13, Farci,M.,et al, 2002
Current and Emerging Issues in Wilsons Disease
NEJM 389:922-938, Roberts,E.A. & Schilsky, M.L., 2023
Clinical Reasoning: A Case of Treatable Spastic Paraparesis
Neurol 79: e50-e53, McKinnon, J.H. & Bosch E.P., 2012
Neurofibromatosis Type 2
Lancet 373:1974-1986, Astagiri,A.R.,et al, 2009
Myotonic Dystrophy Type 2
Neurol 60:657-664, Day,J.W.,et al, 2003
Clinicopath Conf, Bilateral, Diffuse Uveal Melanocytic Proliferation, Metastatic Endometrial Carcinoma
NEJM 346:189-195, Case 2-2002, 2002
Inborn Errors of Metabolism as a Cause of Neurological Disease in Adults: An Approach to Investigation
JNNP 69: 5-12, Gray,R.G.F. et al, 2000
Presymptomatic Diagnosis of Neurofibromatosis 2 Using Linked Genetic Markers, Neuroimging, and Ocular Examinations
Neurol 47:1269-1277, Baser,M.E., 1996
Mitochondrial DNA and Disease
NEJM 333:638-644, Johns,D.R., 1995
Cerebrotendinous Xanthomatosis:Molecular Diagnosis Enables Presymptomatic Detection of a Treatable Disease
Neurol 44:288-290, Meiner,V.,et al, 1994
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
Retinitis Pigmentosa
Surv Ophthalmol 33:137-177, Pagon,R.A., 1988
Long-Term Treatment of Cerebrotendinous Xanthomatosis with Chenodeoxycholic Acid
NEJM 311:1649-1652, Berginer,V.M.,et al, 1984
A Familial Mitochondrial Myopathy With Central Defect in Neural Transmission
Arch Neurol 36:553-556, Barron,S.A.,et al, 1979
Clinical Pathological Conference-The Man Without a History-CA of Lung with Marantic Endocarditis & Cerebral Emboli
JAMA 227:1052, Locke,S.,et al, 1974
Genetic Counseling in Retinitis Pigmentosa
MCV Quart 8:283, Noah,V., 1972