Brain Magnetic Resonance Imaging in Patients with Cowden Syndrome
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Cerebrovascular Complications of Fabry's Disease
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Hereditary Hemorrhagic Telangiectasia
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Von Hippel-Lindau Disease Affecting 43 Members of a Single Kindred
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Mendelian Etiologies of Stroke
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Clinicopathological Conference
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Nevoid Basal Cell Carcinoma Syndrome & Epilepsy
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Blue Rubber Bleb Nevus Syndrome with CNS Involvement & Thrombosis of a Vein of Galen Malformation
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Systematic Genetic Assessment in Young Patients with Cryptogenic Stroke: The ES-EASY Project
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A 62-Year-Old Woman with Progressive Spasticity, Weakness,and Gait Instability
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A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
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Clinical Neurologic Features and Evaluation of PTEN Hamartoma Tumor Syndrome, A Systematic Review
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A 50-YEar-Old Man with Intracerebral Hemorrhage and Tortuous Retinal Arterioles
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Genetic Causes of Cerebral Small Vessel Diseases, A Parctical Guide for Neurologists
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Clinicopathologic Conference, Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome
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Imaging Patterns Characterizing Mitochondrial Leukodystrophies
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Clinicopathologic Conference, Vascular Ehlers-Danlos Syndrome
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A 22-Year-Old Man with Progressive Bilateral Visual Loss
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Pediatric Leigh Syndrome
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Ehlers-Danlos Syndromes
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Clinical and Neuroimaging Features in Gorlin-Goltz Syndrome
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A Case of Ataxia, Seizure, and Choreoathetosis in a 34-year-old Woman
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The Syndrome of Cutaneous Photosensitivity, Growth Failure, and Basal Ganglia Calcification
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Neurological Management of Von Hippel-Lindau Disease
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DARS-Associated Leukoencephalopathy can Mimic a Steroid-Responsive Neuroinflammatory Disorder
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Cerebral Abnormalities in Adults with Ataxia-Telangiectasia
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Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
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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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Inherited Metabolic Diseases of the Nervous System, Lipogranulomatosis (Farber Disease)
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Sturge-Weber Syndrome
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Restricted Diffusion in Vanishing White Matter
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Neurofibromatosis Type 2
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Aicardi-Gouti�res Syndrome: Neuroradiologic Findings and Follow-up
AJNR 30:1971-1976, Uggetti,C.,et al, 2009
Aicardi-Gouti�res Syndrome
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Nearly Completely Reversible Brain Abnormalities in a Patient With Incontinentia Pigmenti
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Tuberous Sclerosis
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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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