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Hypomelanosis of Ito
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Lipomembranous Polycystic Osteodysplasia (Brain, Bone, & Fat Disease)
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Nevoid Basal Cell Carcinoma Syndrome & Epilepsy
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Juvenile Metachromatic Leukodystrophy
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Familial Psychosis & Diverse Neurologic Abnormalities in Adult-Onset Gaucher's Disease
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Clinical & Extraneural Histologic Diagnosis of Neuronal Ceroidlipofuscinosis
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Familial Paroxysmal Dystonic Choreoathetosis & its Differentiation From Related Syndromes
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Genetic Counseling in Retinitis Pigmentosa
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A 9-Year-Old Girl with CNS Immune Dysregulation
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Clinical Neurologic Features and Evaluation of PTEN Hamartoma Tumor Syndrome, A Systematic Review
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A Young Adult Man with Cognitive Changes, Gait Difficulty, and Renal Insufficiency
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Genetic Causes of Cerebral Small Vessel Diseases, A Parctical Guide for Neurologists
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Movement Disorders in Patients with Genetic Developmental and Epileptic Encephalopathies
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Multiple Cranial Nerve Gadolinium Enhancement in Norrie Disease
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Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
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The Phenotypic Continuum of ATP1A3-Related Disorders
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A 45-Year-Old Man with Progressive Insomia and Psychiatric and Motor Symptoms
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A 25-year-old Woman with Recurrent Episodes of Collapse and Loss of Consciousness
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Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement
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Basa Ganglia Calcifications (Fahrs Syndrome): Related Conditions and Clinical Features
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Neuroimaging Changes in Menkes Disease, Part 1
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A Case of Ataxia, Seizure, and Choreoathetosis in a 34-year-old Woman
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Clinicopathologic Conference, Biotinthiamine-Responsive Basal Ganglia Disease Due to Mutation SLC19A3
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Huntington Disease: Clinical Features and Diagnosis
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MRI Findings of Biotin-Responsive Basal Ganglia Disease Before and After Treatment
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Choreoathetosis, Dystonia, and Myoclonus in 3 Siblings with Autosomal Recessive Spinocerebellar Ataxia Type 16
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Neurological Management of Von Hippel-Lindau Disease
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Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
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A 40-year old Woman with Difficulty Going Down Stairs in High-Heeled Shoes
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A Case of Refractory Nocturnal Seizures
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Characyeristic features and progression of abnormalities on MRI for CARASIL
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Molybdenum Cofactor Deficiency
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Sturge-Weber Syndrome
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Inherited Metabolic Diseases of the Nervous System, Pyridoxine Dependent Seizures
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Inherited Metabolic Diseases of the Nervous System, Galactosemia
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Inherited Metabolic Diseases of the Nervous System, Tay Sachs Disease
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Inherited Metabolic Diseases of the Nervous System, Infantile Niemann-Pick Disease
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