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Neurofibromatosis Type 2
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Aicardi-Gouti�res Syndrome: Neuroradiologic Findings and Follow-up
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Aicardi-Gouti�res Syndrome
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Hereditary Hemorrhagic Telangiectasia
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Von Hippel-Lindau Disease Affecting 43 Members of a Single Kindred
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Familial Oculoleptomeningeal Amyloidosis, Report of a New Family with Unusual Features
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Cerebral Amyloid Angiopathy, A Critical Review
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Incontinentia Pigmenti:Association with Anterior Horn Cell Degeneration
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Central Nervous System Infections Associated with Hereditary Hemorrhagic Telangiectasia
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Periodic Meningitis & Familial Mediterranean Fever
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CT Scans in Menkes Disease
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A 62-Year-Old Woman with Progressive Spasticity, Weakness,and Gait Instability
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A 60-Year-Old Man with Weakness and Gait Dysfunction
JAMA Neurol 82:305-306, Jones,F.J.S.,et al, 2025
Rapidly Progressive Frontotemporal Dementia with Amytrophic Lateral Sclerosis in an Elderly Female
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Clinodactyly as a Key Finding in Distal Spinal Muscular Atrophy
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A 63-Year-Old Female Patient Presenting with Orthostatic Hypotension and Ataxia
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A 9-Year-Old Girl with CNS Immune Dysregulation
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A 24-Year-Old Man with Spastic Ataxia and Hypodontia
JAMA Neurol 81:658-659, Marien,L.,et al, 2024
A 26-Year-Old Woman with Chronic Progressive Gait Dysfunction
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Clinical Neurologic Features and Evaluation of PTEN Hamartoma Tumor Syndrome, A Systematic Review
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A 50-YEar-Old Man with Intracerebral Hemorrhage and Tortuous Retinal Arterioles
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A 35-Year-Old Woman with Personality Change and Gait Impairment
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Genetic Causes of Cerebral Small Vessel Diseases, A Parctical Guide for Neurologists
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A 48-Year-Old Man With Spasticity and Progressive Ataxia
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Leber Hereditary Optic Neuropathy with Longitudinal Spinal Cord Lesion Mimicking Spinal Cord Infarction
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Amyotrophic Lateral Sclerosis
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Spinal Muscular Atrophy
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Clinicopathologic Conference, Vascular Ehlers-Danlos Syndrome
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Pediatric Leigh Syndrome
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Ehlers-Danlos Syndromes
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Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
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Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia: An MRI Study of 16 French Cases
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Clinical and Neuroimaging Features in Gorlin-Goltz Syndrome
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Gradually Progressive Spastic Ataxia in a Young Man Steadily Unsteady
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The Syndrome of Cutaneous Photosensitivity, Growth Failure, and Basal Ganglia Calcification
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Neurological Management of Von Hippel-Lindau Disease
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DARS-Associated Leukoencephalopathy can Mimic a Steroid-Responsive Neuroinflammatory Disorder
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Non-Alzheimers Dementia 1 Frontotemporal Dementia
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Cerebral Abnormalities in Adults with Ataxia-Telangiectasia
AJNR 35:119-123, Lin, D.D.M.,et al, 2014
Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
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Brugada Syndrome in Spinal and Bulbar Muscular Atrophy
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