Hyperhomocysteinemia, Low Folate and Vitamin B12 Concentrations, and Methylene Tetrahydrofolate Reductase Mutation in Cerebral Venous Thrombosis
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Prethrombotic Disorders in Children with Arterial Ischemic Stroke and Sinovenous Thrombosis
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Clinicopath Conf
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Cerebral Haemorrhagic Infarction in Young Patients with Hereditary Protein C Deficiency
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A 24-Year-Old Man with Spastic Ataxia and Hypodontia
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A 10-year-old boy with Bilateral Vision Loss
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Neuroimaging Changes in Menkes Disease, Part 1
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A 44-Year-Old Man with Eye, Kidney, and Brain Dysfunction
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A Young Man with Progressive Vision and Hearing Loss
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Sturge-Weber Syndrome
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Neurologic Features of Horizontal Gaze Palsy and Progressive Scoliosis with Mutations in ROBO3
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Arch Neurol 50:470-473, Weiner,N.C.,et al, 1993
Leber's Hereditary Optic Neuropathy, New Genetic Considerations
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Emery-Dreifus Muscular Dystrophy, NEJM 327:548-5571992., , 1992
MR of Progressive Neurodegenerative Change in Treated Menkes'Kinky Hair Disease
Neuroradiology 33:181-182, Johnsen,D.E.,et al, 1991
Retinitis Pigmentosa
Surv Ophthalmol 33:137-177, Pagon,R.A., 1988
Familial Recurrent Bell's Palsy with Ocular Motor Palsies
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Blue Rubber Bleb Nevus Syndrome with CNS Involvement & Thrombosis of a Vein of Galen Malformation
Ann Neurol 3:464, Waybright,E.A.,et al, 1978
Familial Cavernous Angiomas
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Neurologic Aspects of Hereditary Hemorrhagic Telangiectasia
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Genetic Counseling in Retinitis Pigmentosa
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Angiokeratoma Corporis Diffusum
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