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Cerebrovascular Complications of Fabry's Disease
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Pseudoxanthoma Elasticum:A Review of Neurological Complications
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Familial Cavernous Angiomas
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A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
Neurol 102:e209358, Barbosa,A.R.,et al, 2024
Genetic Causes of Cerebral Small Vessel Diseases, A Parctical Guide for Neurologists
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A 22-Year-Old Man with Progressive Bilateral Visual Loss
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Clinical and Neuroimaging Features in Gorlin-Goltz Syndrome
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Clinicopathologic Conference, Biotinthiamine-Responsive Basal Ganglia Disease Due to Mutation SLC19A3
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The Syndrome of Cutaneous Photosensitivity, Growth Failure, and Basal Ganglia Calcification
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Cerebral Abnormalities in Adults with Ataxia-Telangiectasia
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Red Papules on the Tongue of a Patient with Hemiparesis
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Sturge-Weber Syndrome
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Clinical Manifestations and Diagnosis of Bicuspid Aortic Valve in Adults
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Sturge-Weber Syndrome
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Neurofibromatosis Type 2
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Aicardi-Gouti�res Syndrome: Neuroradiologic Findings and Follow-up
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Aicardi-Gouti�res Syndrome
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Nearly Completely Reversible Brain Abnormalities in a Patient With Incontinentia Pigmenti
AJNR 29:431-433, Lou,H.,et al, 2008
Tuberous Sclerosis
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Update on Blepharospasm: Report from the BEBRF International Workshop
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MR Imaging of Familial Creutzfeldt-Jakob Disease: A Blinded and Controlled Study
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Two Sets of Identical Twins with Cervical Artery Dissection Concordant for Temporal Artery Pathology
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Overview of Phenylketonuria
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Pulmonary Arteriovenous Malformations in Hereditary Hemorrhagic Telangiectasia: A Series of 126 Patients
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Phenylketonuria
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The Tuberous Sclerosis Complex
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Brain Magnetic Resonance Imaging in Patients with Cowden Syndrome
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Infantile Bilateral Striatal Necrosis Maps to Chromosome 19q
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Familial Infantile Bilateral Striatal Necrosis
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Familial Form of Intracranial Cavernous Angioma:MR Imaging Findings in 51 Families
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National Institutes of Health Consensus Conference: Tuberous Sclerosis Complex
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Distribution of Cranial MRI Abnormalities in Patients with Symptomatic and Subclinical CADASIL
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Sjogren-Larsson Syndrome, Clinical and MRI/MRS Findings in FALDH-Deficient Patients
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Prethrombotic Disorders in Children with Arterial Ischemic Stroke and Sinovenous Thrombosis
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Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
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Initial and Follow-up Screening for Aneurysms in Families with Familial Subarachnoid Hemorrhage
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Stroke in Williams Syndrome
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