A 25-year-old Woman with Recurrent Episodes of Collapse and Loss of Consciousness
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DARS-Associated Leukoencephalopathy can Mimic a Steroid-Responsive Neuroinflammatory Disorder
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CNS Involvement at the Onset of Primary Hemophagocytic Lymphohistiocytosis
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Neonatal Seizures
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Imaging Patterns Characterizing Mitochondrial Leukodystrophies
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Pediatric Leigh Syndrome
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Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement
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A 44-Year-Old Man with Eye, Kidney, and Brain Dysfunction
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Neurological Management of Von Hippel-Lindau Disease
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Inherited Metabolic Diseases of the Nervous System, Globoid Cell Leukodystrophy (Krabbe Disease, Galactocerebrosidase)
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The Autosomal Recessive Cerebellar Ataxias
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Restricted Diffusion in Vanishing White Matter
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Clinical Reasoning: A Young Man with Reversible Paralysis, Cerebral White Matter Lesions, and Peripheral Neuropathy
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Aicardi-Gouti�res Syndrome: Neuroradiologic Findings and Follow-up
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Nearly Completely Reversible Brain Abnormalities in a Patient With Incontinentia Pigmenti
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Overview of Phenylketonuria
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Metabolic Disease and Stroke: MELAS
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Adrenoleukodystrophy
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Mutations in Each of the Five Subunits of Translation Initiation Factor eIF2B Can Cause Leukoencephalopathy with Vanishing White Matter
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Fragile X Premutation Carriers: Characteristic MR Imaging Findings of Adult Male Patients with Progressive Cerebellar and Cognitive Dysfunction.
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Long-term Effect of Bone-marrow Transplantation for Childhood-onset Cerebral X-linked Adrenoleukodystrophy
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Distribution of Cranial MRI Abnormalities in Patients with Symptomatic and Subclinical CADASIL
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Fluid Attenuation Inversion Recovery (FLAIR) Images of Dentatorubropalliodoluysian Atrophy:Case Report
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The Phenotypic Spectrum of CADASIL:Clinical Findings in 102 Cases,
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X Linked Adrenoleukodystrophy:Clinical Presentation, Diagnosis, and Therapy
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Clinical Spectrum of CADASIL:A Study of 7 Families
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Hereditary Hemorrhagic Telangiectasia
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Brain MRI and Electrophysiologic Abnormalities in Preclinical and Clinical Adrenomyeloneuropathy
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Treatment of Late Infantile Metachromatic Leukodystrophy by Bone Marrow Transplantation
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Von Hippel-Lindau Disease Affecting 43 Members of a Single Kindred
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Clinical Spectrum of Hereditary Hemorrhagic Telangiectasia (Osler-Wever-Rendu Disease)
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Familial Porencephaly
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Neurological Manifestations of Hereditary Hemorrhagic Telangiectasia (Rendu-Osler-Weber Disease)
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Neurologic Aspects of Hereditary Hemorrhagic Telangiectasia
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A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
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A Young Adult Man with Cognitive Changes, Gait Difficulty, and Renal Insufficiency
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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 6-Year-Old Girl with Progressive Toe Walking
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Unilateral Leukoencephalopathy Revealing Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
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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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Alzheimers Disease
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Clinicopathologic Conference, Vascular Ehlers-Danlos Syndrome
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Hypotonia and Delayed Teeth Eruption in a 2-Year-Old Girl
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"Disappearing Infarct" Is Late-Onset MELAS
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Duchenne Muscular Dystrophy
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A 22-Year-Old Man with Progressive Bilateral Visual Loss
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