A Young Adult Man with Cognitive Changes, Gait Difficulty, and Renal Insufficiency
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Clinicopathologic Conference, Vascular Ehlers-Danlos Syndrome
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A 44-Year-Old Man with Eye, Kidney, and Brain Dysfunction
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Mystery Case: A 21-Year-Old Man with Visual Loss Following Marijuana Use
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Screening for Intracranial Aneurysms in ADPKD: A More Accurate Risk Assignment Model Is Needed
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Neurologic Manifestations of von Hippel-Lindau Disease
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Wilson Disease
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Brief Report:Autosomal Dominant Familial Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia
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Anderson-Fabry Disease
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Von Hippel-Lindau Disease Affecting 43 Members of a Single Kindred
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Phosphorylase Deficiency
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Neurological Manifestations of Fabry Disease in Female Carriers
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Globoid cells, Glial nodules, & Peculiar Fibrillary Changes in the cerebro-hepato-renal Syndrome of Zellweger
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Angiokeratoma Corporis Diffusum
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Focusing on the Eye Signs of Alport Syndrome in a 40-Year-Old Man Who Previously Had a Kidney Transplant and Hearing Loss
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Genetic Causes of Cerebral Small Vessel Diseases, A Parctical Guide for Neurologists
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Neonatal Seizures
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A 6-Year-Old Girl with Progressive Toe Walking
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More Than a Little Unsteady
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Amyotrophic Lateral Sclerosis
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Spinal Muscular Atrophy
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A Middle-aged Woman with Severe Scoliosis and Encephalopathy
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Alzheimers Disease
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Hypotonia and Delayed Teeth Eruption in a 2-Year-Old Girl
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Duchenne Muscular Dystrophy
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A 45-Year-Old Man with Progressive Insomia and Psychiatric and Motor Symptoms
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Ears of the Lynx Magnetic Resonance Imaging Sign
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Clinicopathologic Conference,Aceruloplasminemia, Hereditary
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Challenging Diagnosis of Gerstmann-Straussler-Scheinker Disease
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"Ears of the Lynx" MRI Sign is Associated with SPG11 and SPG15 Hereditary Spastic Paraplegia
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Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement
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A 58-year-old Man with Hand Tremor and Episodes of Neck Pain
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Muscular Dystrophies
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Neurodegeneration with Brain Iron Accumulation
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Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
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Clinical Reasoning: A Teenager with Left Arm Weakness
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Clinical and Neuroimaging Features in Gorlin-Goltz Syndrome
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Personality Changes, Executive Dysfunction, and Motor and Memory Impairment
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A 13-year-old boy with Chronic Ataxia and Developmental Delay
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A 45-year-old man with Weakness and Myalgia after Orthopedic Surgery
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Intractable Epilepsy and Progressive Cognitive Decline in a Young Man
JAMA Neurol 74:737-740, Cohen, A.L.,et al, 2017
Dentate Update: Imaging Features of Entities that Affect the Dentate Nucleus
AJNR 38:1467-1474, Bond, K.M.,et al, 2017
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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