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Central Nervous System Lesions in von Hippel-Lindau Syndrome
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Carbonic Anhydrase II Deficiency in 12 Families with Osteopetrosis with Renal Tubular Acidosis & Cerebral Calcification
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A 6-Year-Old Girl with Progressive Toe Walking
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Clinicopathologic Conference, Vascular Ehlers-Danlos Syndrome
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Complex Ataxia
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A Neonate with Micrognathia and Hypotonia
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Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
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Chronic and Slowly Progressive Weakness of the Legs and Hands
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Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
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Restricted Diffusion in Vanishing White Matter
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Two Sets of Identical Twins with Cervical Artery Dissection Concordant for Temporal Artery Pathology
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Prevalence of Fabry Disease in Patients with Cryptogenic Stroke: A Prospective Study
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Metabolic Disease and Stroke: MELAS
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Neurologic Features of Horizontal Gaze Palsy and Progressive Scoliosis with Mutations in ROBO3
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Clinical and Molecular Findings in Patients with Giant Axonal Neuropathy (GAN)
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Mutations in Each of the Five Subunits of Translation Initiation Factor eIF2B Can Cause Leukoencephalopathy with Vanishing White Matter
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Adult-Onset Leukoencephalopathy with Vanishing White Matter Presenting with Dementia
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Reduced Penetrance,Variable Expressivity,and Genetic Heterogeneity of Familial Atrial Septal Defects
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Cerebrovascular Complications of Fabry's Disease
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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Charcot-Marie-Tooth Disease and Related Inherited Neuropathies
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Charcot-Marie-Tooth Neuropathies:From Clinical Description to Molecular Genetics
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Autosomal Dominant, Familial Spastic Paraplegia, Type I:Clinical and Genetic Analysis of a Large North American Family
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Hereditary Sensory and Autonomic Neuropathy with Cataracts, Mental Retardation, and Skin Lesions:Five Cases
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Neurovascular Manifestations of Heritable Connective Tissue Disorders:A Review
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The Neurologic Syndrome of Vitamin E Deficiency:A Significant Cause of Ataxia
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Central Nervous System Involvement in Von Hippel-Lindau Disease
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The Marinesco-Sjogren Syndrome Examined by CT, MR, and 18F-2-Fluoro-2-Deoxy-D-Glucose & PET
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Refsum Disease
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Cerebral Cavernous Malformations:Incidence and Familial Occurrence
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Central Core Disease, Clinical Features in 13 Patients
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Cervicomedullary Compression in Young Patients with Achondroplasia:Value of Neurologic & Respiratory Eval
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Clinicopathological Conference
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MR Imaging of Familial Basilar Impression
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Multiple Endocrine Neoplasia, Type 2b:Phenotype Recognition; Neurological Features & Their Pathological Basis
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The Spectrum of Mild X-Linked Recessive Muscular Dystrophy
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Duane Syndrome & Congential Upper-Limb Anomalies:A Familial Occurrence
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Juvenile Diabetes Mellitus & Optic Atrophy
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Unrecognized Adult Phenylketonuria
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