A Young Adult Man with Cognitive Changes, Gait Difficulty, and Renal Insufficiency
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Sturge-Weber Syndrome
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Clinicopath Conf, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)
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The Floppy Infant: Evaluation of Hypotonia
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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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Sjogren-Larsson Syndrome, Clinical and MRI/MRS Findings in FALDH-Deficient Patients
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Angelman Syndrome: Clinical Profile
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Acid Maltase Deficiency
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A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
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Genetic Causes of Cerebral Small Vessel Diseases, A Parctical Guide for Neurologists
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Adult Patient Presenting with Spine Pain Following a Motor Vehicle Accident
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A Middle-aged Woman with Severe Scoliosis and Encephalopathy
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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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Clinical and Neuroimaging Features in Gorlin-Goltz Syndrome
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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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MRI Findings of Biotin-Responsive Basal Ganglia Disease Before and After Treatment
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Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
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Mystery Case: A 21-Year-Old Man with Visual Loss Following Marijuana Use
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Non-Alzheimers Dementia 1 Frontotemporal Dementia
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Molybdenum Cofactor Deficiency
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Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
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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, Tay Sachs Disease
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Clinicopathologic Conference, Kufs Disease (Autosomal Dominant) Parry Type Neuronal Ceroid Lypofuscinosis
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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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Aicardi-Gouti�res Syndrome
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Prevalence of Fabry Disease in Patients with Cryptogenic Stroke: A Prospective Study
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Glycogen-Storage Disease Type II
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Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL)
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Prethrombotic Disorders in Children with Arterial Ischemic Stroke and Sinovenous Thrombosis
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Inherited Prothrombotic States and Ischaemic Stroke in Childhood
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Niemann-Pick Disease Type C from Bench to Bedside
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X-Linked Malformation of Neuronal Migration
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Ischemic Stroke in Young Pts with Activated Protein C Resistance:Rpt of Three Cases Belonging to Three Different Kindreds
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Clinical Variability in Adult-Onset Acid Maltase Deficiency:Report of Affected Sibs and Review of Literature
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Canavan Disease:From Spongy Degeneration to Molecular Analysis
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Congential Deficienty of Factor VII in Subarachnoid Hemorrhage
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Ornithine Transcarbamylase Deficiency Presenting with Strokelike Episodes
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Lissencephaly:A Human Brain Malformation Associated with Deletion of the LIS1 Gene Located at Chromosome 17p13
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Hypomelanosis of Ito
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Familial Intracranial Haemorrhage Due to Factor V Deficiency
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Wilson Disease
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Causal Heterogeneity in Isolated Lissencephaly
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A Synd of Autosomal Dominant Alternating Hemiplegia:Mimicking Intractable Epilepsy; Chromosomal Studies; Physiol Investig
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