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Neurofibromatosis Type 2
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Central Nervous System Lesions in von Hippel-Lindau Syndrome
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Central Nervous System Involvement in Von Hippel-Lindau Disease
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Familial Spinal Neurofibromatosis:Clinical and DNA Linkage Analysis
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Central Nervous System Haemangioblastoma:A Clinical & Genetic Study of 52 Cases
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Von Hippel-Lindau Disease Affecting 43 Members of a Single Kindred
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Congenital Muscular Dystrophy
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Radiologic Screening for von Hippel-Lindau Disease:Role of Gd-DTPA Enhanced MR Imaging of the CNS
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Central Core Disease, Clinical Features in 13 Patients
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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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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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Roving Eye and Head in a Patient with Genetic Creutzfeldt-Jakob Disease
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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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A Young Adult Man with Cognitive Changes, Gait Difficulty, and Renal Insufficiency
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Neonatal Seizures
NEJM 388:1692-1700, Ropper.A.H., 2023
A 48-Year-Old Man With Spasticity and Progressive Ataxia
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A 6-Year-Old Girl with Progressive Toe Walking
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Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
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Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
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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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Duchenne Muscular Dystrophy
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A 45-Year-Old Man with Progressive Insomia and Psychiatric and Motor Symptoms
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Personality Changes, Executive Dysfunction, and Motor and Memory Impairment
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Gradually Progressive Spastic Ataxia in a Young Man Steadily Unsteady
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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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Autism
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Red Papules on the Tongue of a Patient with Hemiparesis
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Degenerative Diseases of the Nervous System, Alzheimer Disease
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Efficacy and Safety of Everolimus for Subependymal Giant Cell Astrocytomas Associated with Tuberous Sclerosis Complex (EXIST-1): A Multicenter, Randomized, Placebo-Controlled Phase 3 Trial
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The Autosomal Recessive Cerebellar Ataxias
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Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
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Huntingtons Disease
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A 63-Year-Old Woman with Urinary Incontinence and Progressive Gait Disorder
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