Roberta Milone

TL;DR: This study is among the largest screenings of consecutive HSP index cases enrolled in real-life clinical-diagnostic settings, and its results corroborate NGS as a modern, first-step procedure for molecular diagnosis of HSP.

TL;DR: CNVs and miRNAs are new entities that have changed the order of complexity at the level of gene expression and regulation, thus CNV-miRNAs (miRNA harbored in the CNVs) are potential functional variants that should be considered high priority candidate variants in genotype-phenotype association studies.

TL;DR: A boy harbouring a de novo 8.3 Mb duplication of chromosome 1q 21.1-q21.3 whose complex unusual phenotype deserves attention, due to the presence of focal cortical dysplasia, microcephaly, and epilepsy is reported on.

TL;DR: A detailed clinical description and the outcome four years post-diagnosis of a patient already described, with mild intellectual disability, language delay, autistic traits and compound heterozygous mutations in ACY1 is presented.

TL;DR: The aim of this work was widening the Benign Hereditary Chorea neurological, cognitive and behavioral phenotype through the description of a child and her family pedigree and underlines the need to reconsider the term “benign.”