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Clinical Reasoning: Siblings with Progressive Weakness, Hypotonia, Nystagmus, and Hearing Loss
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FARS2 dificiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance
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Inherited Metabolic Diseases of the Nervous System, Subacute Necrotizing Encephalopathy (Leigh Disease)
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Cognitive Delay in a 7-year-old Girl
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The Autosomal Recessive Cerebellar Ataxias
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Aicardi-Gouti�res Syndrome
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Rett Syndrome:Natural History and Management
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Human Cerebellar Hypoplasia, A Syndrome of Diverse Causes
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