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A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
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Neurodegeneration with Brain Iron Accumulation
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Pyruvate Dehydrogenase Deficiency (PDCD)
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Huntington Disease: Clinical Features and Diagnosis
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Viral Infections of the Nervous System, Chronic Meningitis, and Prior Diseases, Encephalitis Lethargica (non Economo Disease, sleeping sickness)
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Inherited Metabolic Diseases of the Nervous System, Biopterine Deficiency
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Degenerative Diseases of the Nervous System, Progressive Supranuclear Palsy
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Dopa-Responsive Dystonia Revisited
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Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
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Huntingtons Disease
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The Expanding Phenotype of GLUT1-Deficiency Syndrome
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Progressive Supranuclear Palsy: A Current Review
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Primary Episodic Ataxias:Diagnosis, Pathogenesis and Treatment
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Clinicopath Conf, Dopamine-Responsive-Dystonia Caused by a Mutation in the GCH1 Gene
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Niemann-Pick Disease Type C: Two Cases and an Update
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Posterior Cerebral Artery Syndromes
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Delayed-Onset Progressive Movement Disorders after Static Brain Lesions
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Leigh Syndrome:Clinical Features and Biochemical DNA Abnormalities
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Niemann-Pick Disease Type C from Bench to Bedside
JAMA 276:561-564, Schiffmann,R., 1996
Mitochondrial DNA and Disease
NEJM 333:638-644, Johns,D.R., 1995
Psychosis as the Initial Manifestation of Adult-Onset Niemann-Pick Disease Type C
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Alternating Hemiplegia of Childhood:A Study of 10 Pts & Results of Flunarizine Treatment
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Niemann-Pick Disease Type C:Diagnosis and Outcome in Children, with Particular Reference to Liver disease
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The Sit-up Test:An Alternative Clinical Test for Evaluating Pediatric Torticollis
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Delayed-Onset Dystonia Due to Perinatal or Early Childhood Asphyxia
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Cortical-Basal Ganglionic Degeneration
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Alternating Hemiplegia of Childhood
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Progressive Dyskinesia Due to Internal Cerebral Vein Thrombosis
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Adult Dystonic Lipidosis, Clin Histo & Biochem Findings of a Neurovisceral Storage Dis
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Delayed-onset Dystonia in Patients with"Static"Encephalopathy
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Autosomal Dominant System Degeneration in Portugese Families of the Azores Islands
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Progressive Supranuclear Palsy-Case Study
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Corticodentatonigral Degeneration with Neuronal Achromasia
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