Pubblicazioni

Compound heterozygosity for an expanded (GAA) and a (GAAGGA) repeat at FXN locus: from a diagnostic pitfall to potential clues to the pathogenesis of Friedreich ataxia

2020 - NEUROGENETICS

Santoro, Massimo; Perna, Alessia; La Rosa, Piergiorgio; Petrillo, Sara; Piemonte, Fiorella; Rossi, Salvatore; Riso, Vittorio; Nicoletti, Tommaso Filippo; Modoni, Anna; Pomponi, Maria Grazia; Chiurazzi, Pietro; Silvestri, Gabriella

De novo ARHGEF9 missense variants associated with neurodevelopmental disorder in females: expanding the genotypic and phenotypic spectrum of ARHGEF9 disease in females

2020 - NEUROGENETICS

Scala, M.; Zonneveld-Huijssoon, E.; Brienza, M.; Mecarelli, O.; van der Hout, A. H.; Zambrelli, E.; Turner, K.; Zara, F.; Peron, A.; Vignoli, A.; Striano, P.