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Neuroimaging Features of Biotinidase Deficiency
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A 23-Year-Old Man With Seizures and Visual Deficit
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Clinical and Genetic Aspects of Distal Myopathies
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Canavan Disease:From Spongy Degeneration to Molecular Analysis
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Mutation in Cystatin C Gene Causes Hereditary Brain Hemorrhage
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Cavernous Maliformations of the Central Nervous System
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A 50-YEar-Old Man with Intracerebral Hemorrhage and Tortuous Retinal Arterioles
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RNF213 Polymorphisms in Intracranial Artery Dissection
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Genetics of Cluster Headache Takes a Leap
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Recurrent Cerebral Ischemia During Pregnancies
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Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
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Sturge-Weber Syndrome and Port-Wine Stains Caused by Somatic Mutation in GNAQ
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Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
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Genes Associated With Adult Cerebral Venous Thrombosis
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