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The Phenotypic Continuum of ATP1A3-Related Disorders
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Complex Ataxia
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An Unusual Fundus Finding in a Teenage Girl
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Recessive Ataxia With Ocular Apraxia
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Localization of the Giant Axonal Neuropathy Gene to Chromosome 16q24
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Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
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Mucolipidosis Type IV; Characteristic MRI Findings
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Leber's Hereditary Optic Neuropathy, New Genetic Considerations
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Hallervorden-Spatz Syndrome and Brain Iron Metabolism
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Tangier Disease in a Black Patient:An Unusual Clinical Presentation
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A Mitochondrial DNA Mutation as a Cause of Leber's Hereditary Optic Neuropathy
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Biotinidase Deficiency:Initial Clinical Features & Rapid Diagnosis
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