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A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
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The Phenotypic Continuum of ATP1A3-Related Disorders
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A 40-year old Woman with Difficulty Going Down Stairs in High-Heeled Shoes
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Neurofibromatosis Type 2
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Aicardi-Gouti�res Syndrome: Neuroradiologic Findings and Follow-up
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Dystonia
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Sensorineural Hearing Loss in Children
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Infantile Bilateral Striatal Necrosis Maps to Chromosome 19q
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Mucolipidosis Type IV; Characteristic MRI Findings
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Wolfram Syndrome:Hereditary Diabetes Mellitus with Brainstem and Optic Atrophy
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Niemann-Pick Disease Type C from Bench to Bedside
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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Charcot-Marie-Tooth Disease and Related Inherited Neuropathies
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Leber's Hereditary Optic Neuropathy as a Cause of Severe Visual Loss in Childhood
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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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MR Imaging of the Spinal Cord in 23 Subjects with ALD-AMN Complex
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