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Lipomembranous Polycystic Osteodysplasia with Progressive Dementia
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Adult-Onset Coats Plus, A Case of Leukoencephalopathy with Calcifications, a Tumefactive Brain Lesion, and a Presumed Autoimmune Disease
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Multivessel Cerebral Occlusion in Noonan Syndrome
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Neonatal Seizures
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Thyrotoxic Periodic Paralysis
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Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
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Imaging Patterns Characterizing Mitochondrial Leukodystrophies
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A 25-year-old Woman with Recurrent Episodes of Collapse and Loss of Consciousness
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Making Sense of the Clinical Spectrum of Limb Girdle Muscular Dystrophies
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Clinical and Neuroimaging Features in Gorlin-Goltz Syndrome
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A Neonate with Micrognathia and Hypotonia
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Hydrocephalus in Children
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Neurological Management of Von Hippel-Lindau Disease
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Degenerative Diseases of the Nervous System, Friedreich Ataxia
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Screening for Intracranial Aneurysms in ADPKD: A More Accurate Risk Assignment Model Is Needed
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Aicardi-Gouti�res Syndrome: Neuroradiologic Findings and Follow-up
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Tuberous Sclerosis
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Neurologic Manifestations of von Hippel-Lindau Disease
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The Tuberous Sclerosis Complex
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The Genetic Causes of Basal Ganglia Calcification, Dementia, and Bone Cysts
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Malignant Hyperthermia, Update on Susceptibility Testing
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Proximal Myotonic Myopathy, Clin Features of Disorder Similar to Myotonic Dystrophy
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Clinical Significance of Fetal Choroid Plexus Cysts
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Acquired Ocular Visual Impairment in Children, 1960-1989
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New Research in Tuberous Sclerosis, Probably More Common with More Adult Complications
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Thyrotoxic Periodic Paralysis in the US, Report of 7 Cases & Review of the Literature
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Central Nervous System Lesions in von Hippel-Lindau Syndrome
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Intracranial Hemorrhage in Patients with Polycystic Kidney Disease
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Von Hippel-Lindau Disease Affecting 43 Members of a Single Kindred
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Hereditary Long Q-T Syndrome Presenting as Epilepsy:Electroencephalography Laboratory Diagnosis
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A Mitochondrial DNA Mutation as a Cause of Leber's Hereditary Optic Neuropathy
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Refsum Disease
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Computed Tomography and Magnetic Resonance Imaging in Adult-Onset Leukodystrophy
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Mendelian Etiologies of Stroke
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Cerebral Ventricular Dilation in Congenital Myotonic Dystrophy
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Central Core Disease, Clinical Features in 13 Patients
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Familial Occurrence of Idiopathic Normal-Pressure Hydrocephalus
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Congenital Hydrocephalus & Eye Abnormalities with Severe Developmental Brain Defects:Warburg's Syndrome
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Lipomembranous Polycystic Osteodysplasia (Brain, Bone, & Fat Disease)
Neurol 33:81-86, Bird,T.D.,et al, 1983
The Malignant Hyperthermia Syndrome
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Clinicopathological Conference
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A Surgical Approach To The Treatment Of Fetal Hydrocephalus
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Placement Of Ventriculo-Amniotic Shunt For Hydrocephalus In A Fetus
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Computed tomography in Hallervorden-Spatz disease
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Enlarged Cerebral Ventricular System in Infant Achondroplastic Dwarf
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