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Clinical and Genetic Aspects of Distal Myopathies
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Hopkins Syndrome
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Pantothenate Kinase - Associated Neurodegeneration (PKAN)
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Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy
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The Syndrome of Cutaneous Photosensitivity, Growth Failure, and Basal Ganglia Calcification
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Transient Cervical Cord Swelling in Monomelic Amyotrophy
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A 23-Year-Old Man With Seizures and Visual Deficit
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Mucolipidosis Type IV; Characteristic MRI Findings
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Mineralization of the Basal Ganglia Detected by CT in Hallervorden-Spatz Syndrome
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