Fabrizia Stregapede

The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes

Lorena Travaglini, Chiara Aiello, Fabrizia Stregapede et al. · Neurogenetics · 2018 · 62 citations

Rare Hsp-related Genes, Rare Diseases, Genetic Disorder +8

Heterozygous <i>KIF1A</i> variants underlie a wide spectrum of neurodevelopmental and neurodegenerative disorders

Francesco Nicita, Monia Ginevrino, Lorena Travaglini et al. · Journal of Medical Genetics · 2020 · 43 citations

Childhood Rapid-Onset Ataxia: Expanding the Phenotypic Spectrum of ATP1A3 Mutations

Tommaso Schirinzi, Federica Graziola, Francesco Nicita et al. · The Cerebellum · 2018 · 33 citations

Genetic Disorder, Genetics, Motor Development +3

Diagnostic Yield of a Targeted Next-Generation Sequencing Gene Panel for Pediatric-Onset Movement Disorders: A 3-Year Cohort Study

Federica Graziola, Giacomo Garone, Fabrizia Stregapede et al. · Frontiers in Genetics · 2019 · 32 citations · Full text

Genetics, Genetic Epidemiology, Disease Gene Identification +22

Mitochondrial and Peroxisomal Alterations Contribute to Energy Dysmetabolism in Riboflavin Transporter Deficiency

Fiorella Colasuonno, Alessia Niceforo, Chiara Marioli et al. · Oxidative Medicine and Cellular Longevity · 2020 · 26 citations · Full text