The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes - Travaglini, Lorena; Aiello, Chiara; Stregapede, Fabrizia; D’Amico, Adele; Alesi, Viola; Ciolfi, Andrea; Bruselles, Alessandro; Catteruccia, Michela; Pizzi, Simone; Zanni, Ginevra; Loddo, Sara; Barresi, Sabina; et al. (Neurogenetics, 2018)
Keywords: Biomedical and Life Sciences; Biomedicine; Diagnosis; Disease; Genomes; Genotypes; Human Genetics; Molecular Medicine; Neurosciences; Original Article; Pediatrics; Phenotypes; Single-nucleotide polymorphism; Spasticity; Hereditary spastic paraplegias; Ataxia; CGH array; Next-generation sequencing; SNP array