Niemann-Pick Type C Disease
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A Toddler with Acute-Onset Hypotonia, Areflexia, and Ataxia
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The Spectrum of Fragile X Disorders
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A 63-Year-Old Female Patient Presenting with Orthostatic Hypotension and Ataxia
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Niemann-Pick Disease Type C
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Clinicopathologic Conference, Functional Vitamin B12 Deficiency from Use of Nitrous Oxide
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Severe Vitamin B12 Deficiency Presenting as Pancytpenia, Hemolytic Anemia, and Parasthesia:Could Your B12 Be Any Lower?
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The Phenotypic Continuum of ATP1A3-Related Disorders
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A 72-year-old Man with a Progressive Cognitive and Cerebellar Syndrome
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Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
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Pyruvate Dehydrogenase Deficiency (PDCD)
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A 13-year-old boy with Chronic Ataxia and Developmental Delay
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A 54-year-old woman with Dementia, Myoclonus, and Ataxia
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A Case of Ataxia, Seizure, and Choreoathetosis in a 34-year-old Woman
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Reversible Cognitive Decline Diagnosed on Ear Examination
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A Woman with Intellectual Disability, Amenorrhoea, Seizures, and Balance Problems
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Clinical Manifestations, Pathologic Features, and Diagnosis of Langerhans Cell Histiocytosis
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Inherited Metabolic Diseases of the Nervous System, Subacute Necrotizing Encephalopathy (Leigh Disease)
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Cognitive Delay in a 7-year-old Girl
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Heterogeneity of Coenzyme Q10 Deficiency
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3-Methylglutaconic Aciduria Type I Redefined: A Syndrome With Late-Onset Leukoencephalopathy
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MR Imaging Findings in 56 Patients with Wernicke Encephalopathy: Nonalcoholics May Differ from Alcoholics
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Angelman Syndrome Revisited
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Congenital Lymphocytic Choriomeningitis Virus Infection: Spectrum of Disease
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Clinical Spectrum of Mutations in SCN1A Gene: Severe Myoclonic Epilepsy in Infancy and Related Epilepsies
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Autoantibodies to Folate Receptors in the Cerebral Folate Deficiency Syndrome
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Penetrance of the Fragile X-Associated Tremor/Ataxia Syndrome in a Premutation Carrier Population
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The Neurological Complications of Bariatric Surgery
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Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
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Neurological Complications of Coeliac Disease
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Prader-Willi and Angelman Syndromes
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A Man with Weight Loss, Ataxia, and Confusion for 3 Months
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Niemann-Pick Disease Type C from Bench to Bedside
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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Diagnostic Guidelines in Central Nervous System Whipple's Disease
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A Novel Mutation in Exon 3 of the Proteolipid Protein Gene in Pelizaeus-Merzabacher Disease
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Course and Outcome of Acute Cerebellar Ataxia
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Methylmercury Poisoning:Long-Term Clinical, Radiological, Toxicological, and Pathological Studies of an Affected Family
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Arginase Deficiency Presenting as Cerebral Palsy
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Cerebromeningeal Haemophagocytic Lymphohistiocytosis
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Central Nervous System Involvement in the Eosinophilia-Myalagia Syndrome
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HIV Encephalopathy and Dementia
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