Adult-Onset Coats Plus, A Case of Leukoencephalopathy with Calcifications, a Tumefactive Brain Lesion, and a Presumed Autoimmune Disease
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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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An Unusual Fundus Finding in a Teenage Girl
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A 10-year-old boy with Bilateral Vision Loss
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A 44-Year-Old Man with Eye, Kidney, and Brain Dysfunction
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Inherited Metabolic Diseases of the Nervous System, Tay Sachs Disease
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The Tuberous Sclerosis Complex
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Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome
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von Hippel-Lindau Disease
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Mucolipidosis Type IV; Characteristic MRI Findings
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Acquired Ocular Visual Impairment in Children, 1960-1989
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Atypical Leber's Hereditary Optic Neuropathy with Molecular Confiramtion
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Leber's Hereditary Optic Neuropathy, New Genetic Considerations
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New Research in Tuberous Sclerosis, Probably More Common with More Adult Complications
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Cockayne Syndrome: Review of 140 Cases
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VonHippel-Lindau Disease
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A Familial Syndrome of Dystonia, Blepharospasm, and Pigmentary Retinopathy
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Von Hippel-Lindau Disease Affecting 43 Members of a Single Kindred
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Mitochondrial Myopathies:Clinical & Biochem Features of 30 Patients with Major Deletions of Muscle Mitochondrial DNA
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Retinitis Pigmentosa
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Pseudoxanthoma Elasticum:A Review of Neurological Complications
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Normal Pressure Hydrocephalus, Recog & Relation to Neuro Abnormalities in Cockayne's Sydrome
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Clinical & Extraneural Histologic Diagnosis of Neuronal Ceroidlipofuscinosis
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