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Reversible Cortical and Basal Ganglia Lesions in Late-Onset Methylmalonic Aciduria
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A 51-Year-Old Woman with Abnormal Corups Callosum Signal
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Genetic Causes of Cerebral Small Vessel Diseases, A Parctical Guide for Neurologists
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Updates on Sturge-Weber Syndrome
Stroke 53:3769-3779, Yeom,S.E.&Comi,A.M., 2022
Sturge-Weber Syndrome
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A Middle-aged Woman with Severe Scoliosis and Encephalopathy
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CLOVES Syndrome
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Ears of the Lynx Magnetic Resonance Imaging Sign
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"Ears of the Lynx" MRI Sign is Associated with SPG11 and SPG15 Hereditary Spastic Paraplegia
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Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
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A 13-year-old boy with Chronic Ataxia and Developmental Delay
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Amyotrophic Lateral Sclerosis
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A Case of Ataxia, Seizure, and Choreoathetosis in a 34-year-old Woman
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A Woman with Intellectual Disability, Amenorrhoea, Seizures, and Balance Problems
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Clinicopathologic Conference, Frontotemporal Lobar Degeneration with Tau-positive Inclusions (Picks Disease Subtype) Due to a Gly389Arg MAPT Mutation, Resulting in the Behavioral Variant of Frontotemporal Dementia with Parkinsonism
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Bannayan-Riley-Ruvalcaba Syndrome: MRI Neuroimaging Features in a Series of 7 Patients
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Neuronal Intranuclear Inclusion Disease Cases with Leukoencephalopathy Diagnosed via Skin Biopsy
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Sturge-Weber Syndrome
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Mystery Case: A Young Boy with Myoclonic Jerks
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Sturge-Weber Syndrome
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Range of Genetic Mutations Associated with Severe Non-Syndromic Sporadic Intellectual Disability: An Exome Sequencing Study
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Diagnostic Exome, Sequencing in Persons with Severe Intellectual Disability
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Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
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Clinical Spectrum of CADASIL and the Effect of Cardiovascular Risk Factors on Phenotype: Study in 200 Consecutively Recruited Individuals
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Huntingtons Disease
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Clinicopath Conf, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)
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Aicardi-Gouti�res Syndrome
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A 23-Year-Old Man With Seizures and Visual Deficit
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Overview of Phenylketonuria
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Early Posteroperative Cognitive Dysfunction and Blood Pressure During Coronary Artery Bypass Graft Operation
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GAMT Deficiency: Features, Treatment, and Outcome in an Inborn Error of Creatine Synthesis
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Clinical Spectrum of Mutations in SCN1A Gene: Severe Myoclonic Epilepsy in Infancy and Related Epilepsies
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Penetrance of the Fragile X-Associated Tremor/Ataxia Syndrome in a Premutation Carrier Population
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Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome
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Niemann-Pick Disease Type C from Bench to Bedside
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Cerebrotendinous Xanthomatosis:Molecular Diagnosis Enables Presymptomatic Detection of a Treatable Disease
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Familial Sneddon's Syndrome:Clinical, Hematologic, and Radiographic Findings in Two Brothers
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Mild Head Injury
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A Clinical Study of Noonan Syndrome
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Hallervorden-Spatz Syndrome and Brain Iron Metabolism
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Neurofibromatosis Type I in Children
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Ethanol and the Nervous System
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