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LGMD-D2 TNPO3 related : a wide clinical spectrum Quality of Life and microRNAs study in two families

Late-onset POLR3-related Leukodystrophy: report of a novel compound heterozygous mutation in the POLR3A gene and review of the phenotype

Corneal Confocal Microscopy Demonstrates No Evidence of Small Nerve Fiber Pathology in Obese Children and Adolescents