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12. Clinical, ocular motor, and imaging profile of Niemann-Pick type C heterozygosity. (21st April 2020)

14. Effects of acetyl-DL-leucine on cerebellar ataxia (ALCAT trial): study protocol for a multicenter, multinational, randomized, double-blind, placebo-controlled, crossover phase III trial. Issue 1 (December 2017)

20. Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 Disease. (2nd March 2021)