Clinicopathological Conference, Powasan Virus Encephalitis
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Neuroimaging Features of Biotinidase Deficiency
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The Phenotypic Continuum of ATP1A3-Related Disorders
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Hypotonia and Delayed Teeth Eruption in a 2-Year-Old Girl
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Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement
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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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Clinical Manifestations of the anti-IgLON5 Disease
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Atypical Presentations of Intracranial Hypotension: Comparison with Classic Spontaneous Intracranial Hypotension
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A Woman with Intellectual Disability, Amenorrhoea, Seizures, and Balance Problems
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Enterovirus Vaccines for an Emerging Cause of Brain-Stem Encephalitis
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Viral Infections of the Nervous System, Chronic Meningitis, and Prior Diseases, Creutzfeldt-Jakob Disease (Subacute Spongiform Encephalopathy)
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Inherited Metabolic Diseases of the Nervous System, Subacute Necrotizing Encephalopathy (Leigh Disease)
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Subacute Sclerosing Panencephalitis
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Clinicopathologic Conference, Acute Infectious Mononucleosis due to Epstein-Barr Virus Infection, Complicated by Acute Otitis Media and Postinfectious Cerebellitis
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Central Nervous System Involvement in Whipple Disease
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Cognitive Delay in a 7-year-old Girl
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Clinicopathologic Conference, Kufs Disease (Autosomal Dominant) Parry Type Neuronal Ceroid Lypofuscinosis
NEJM 364:1062-1074, Case 8-2011, 2011
Skin biopsy is useful for the antemortem diagnosis of neuronal intranuclear inclusion disease
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GFAP Mutations, Age at Onset, and Clinical Subtypes in Alexander Disease
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A Strange Case of Waitress Headache
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Angelman Syndrome Revisited
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Clinical Spectrum of Mutations in SCN1A Gene: Severe Myoclonic Epilepsy in Infancy and Related Epilepsies
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Leukoencephalopathy and Raised Brain Lactate from Heroin Vapor Inhalation ("Chasing the Dragon")
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Retinocochleocerebral Vasculopathy
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Susac Syndrome
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Slater Revisited:6 Year Follow Up Study of Pts with Medically Unexplained Motor Symptoms
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Prader-Willi and Angelman Syndromes
Medicine 77:140-151, Cassidy,S.B.&Schwartz,S., 1998
Dentatorubral-Pallidoluysian Atrophy:Clin Features Closely Related to Unstable Expansion of Trinucleotide (CAG) Repeat
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Course and Outcome of Acute Cerebellar Ataxia
Ann Neurol 35:673-679, Connolly,A.M.,et al, 1994
Methylmercury Poisoning:Long-Term Clinical, Radiological, Toxicological, and Pathological Studies of an Affected Family
Ann Neurol 35:680-688, Davis,L.E.,et al, 1994
Niemann-Pick Disease Type C:Diagnosis and Outcome in Children, with Particular Reference to Liver disease
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Angelman Syndrome: Clinical Profile
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Neurologic Aspects of Cobalamin Deficiency
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Neurological and Neuropsychiatric Spectrum of Wilson's Disease:A Prospective Study of 45 Cases
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Neurologic Manifestations of Giant Cell Arteritis
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Neurological Deterioration in Young Adults with Phenylketonuria
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Neurological Sequelae of Cerebral Malaria in Children
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Radiation-Induced Dementia in Patients Cured of Brain Metastases
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Neuropsychiatric Disorders Caused by Cobalamin Deficiency in the Absence of Anemia or Macrocytosis
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Rett Syndrome:Natural History and Management
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Biotinidase Deficiency:Initial Clinical Features & Rapid Diagnosis
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Biotin-Responsive Carboxylase Deficiency Associated With Subnormal Plasma & Urinary Biotin
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Human Cerebellar Hypoplasia, A Syndrome of Diverse Causes
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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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Unmasking Cerebrotendinous Xanthomatosis, Clinical Recognition of a Treatable Cause of Progressive Ataxia
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Expanding Clinical Spectrum an Anti-GQ1b Antibody Syndrome, A Review
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