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Neurol 105:e214099, Mizutani,H.,et al, 2025
Current and Emerging Issues in Wilsons Disease
NEJM 389:922-938, Roberts,E.A. & Schilsky, M.L., 2023
Chorioretinopathy After Corticosteroid Treatment for Optic Neuritis
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Neurofibromatosis Type 2
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Myotonic Dystrophy Type 2
Neurol 60:657-664, Day,J.W.,et al, 2003
Perioperative Management of Patients Receiving Oral Anticoagulants: A Systematic Review
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Risks and Benefits of Anticoagulant and Antiplatelet Medication Use Before Cataract Surgery
Ophthalmology 110:1784-1788, Katz,J.,et al, 2003
Severe Neurologic Complications After Hematopoietic Stem Cell Transplantation in Children
Neurol 59:1895-1904,E13, Farci,M.,et al, 2002
Presence of Diarrhea and Absence of Tendon Xanthomas in Patients With Cerebrotendinous Xanthomatosis
Arch Neurol 57:520-524, Verrips,A.,et al, 2000
Presymptomatic Diagnosis of Neurofibromatosis 2 Using Linked Genetic Markers, Neuroimging, and Ocular Examinations
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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's Disease:Current Status
Am J Med 92:643-654, Yarze,J.C.,et al, 1992
Cerebrotendinous Xanthomatosis:Clinical and MRI Study (A Case Report)
JNNP 53:76-78, Fiorelli,M.,et al, 1990
Neurologic Manifestations of Giant Cell Arteritis
Am J Med 89:67-72, Reich,K.A.,et al, 1990
Retinitis Pigmentosa
Surv Ophthalmol 33:137-177, Pagon,R.A., 1988
Chronic Demyelinating Peripheral Neuropathy in Cerebrotendinous Xanthomatosis
Ann Neurol 20:89-91, Argov,Z.,et al, 1986
Long-Term Treatment of Cerebrotendinous Xanthomatosis with Chenodeoxycholic Acid
NEJM 311:1649-1652, Berginer,V.M.,et al, 1984
Computed Tomography in Cerebrotendinous Xanthomatosis
Neurol 31:1463-1465, Berginer,V.M.,et al, 1981
Idiopathic Hypoparathyroidism Presenting as Dementia
Neurol 29:393-394, Slyter,H., 1979
Peripheral Neuropathy in Cerebrotendinous Xanthomatosis
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