Complex Ataxia
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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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Wilson Disease: Description of 282 Patients Evaluated Over 3 Decades
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Presence of Diarrhea and Absence of Tendon Xanthomas in Patients With Cerebrotendinous Xanthomatosis
Arch Neurol 57:520-524, Verrips,A.,et al, 2000
Infantile CNS Spongy Degeneration-14 Cases:Clinical Update
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Genetic Counseling in Retinitis Pigmentosa
MCV Quart 8:283, Noah,V., 1972