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Fibromuscular Dysplasia and Its Neurologic Manifestations
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Dystonia in Children and Adolescents: A Systematic Review and a New Diagnostic Algorithm
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Degenerative Diseases of the Nervous System, Parkinson Disease
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The Ever-Expanding Spectrum of Congenital Muscular Dystrophies
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Clinical Reasoning: A Case of Treatable Spastic Paraparesis
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An unusual cause of stroke and hypoxia
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Diagnosis and Etiology of Congenital Muscular Dystrophy
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Pulmonary Arteriovenous Malformations in Hereditary Hemorrhagic Telangiectasia: A Series of 126 Patients
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Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
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Reduced Penetrance,Variable Expressivity,and Genetic Heterogeneity of Familial Atrial Septal Defects
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The Muscular Dystrophies
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Creutzfeldt-Jakob Disease in a Young Woman
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Gene Analysis of L1 Neural Cell Adhesion Molecule in Prenatal Diagnosis of Hydrocephalus
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Lissencephaly:A Human Brain Malformation Associated with Deletion of the LIS1 Gene Located at Chromosome 17p13
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Miller-Dieker Syndrome:Detection of a Cryptic Chromosome Translocation Using in Situ Hybridization in a Family
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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