CASTELLOTTI, BARBARA

CASTELLOTTI, BARBARA  

Universita' degli Studi di MILANO  

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Titolo Data di pubblicazione Autori Tipo File Abstract
Novel lissencephaly-associated NDEL1 variant reveals distinct roles of NDE1 and NDEL1 in nucleokinesis and human cortical malformations 2024 Castellotti, BarbaraDoniselli, Fabio M + Article (author) -
Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study 2020 Castellotti, BTonduti, D + Article (author) -
Novel mutations in SLC16A2 associated with a less severe phenotype of MCT8 deficiency 2019 Castellotti B.Salsano E.Tonduti D. + Article (author) -
A novel de novo HCN1 loss-of-function mutation in genetic generalized epilepsy causing increased neuronal excitability 2018 Bonzanni, MattiaMilanesi, RaffaellaCampostrini, GiuliaCastellotti, BarbaraBucchi, AnnalisaBaruscotti, MirkoBarbuti, AndreaDi Francesco, Dario + Article (author) -
A Loss-of-Function HCN4 Mutation Associated With Familial Benign Myoclonic Epilepsy in Infancy Causes Increased Neuronal Excitability 2018 Campostrini, GiuliaCastellotti, BarbaraMilanesi, RaffaellaBonzanni, MattiaBucchi, AnnalisaBaruscotti, MirkoBarbuti, AndreaDi Francesco, Dario + Article (author) -
HCN1 mutation spectrum : From neonatal epileptic encephalopathy to benign generalized epilepsy and beyond 2018 Castellotti B.Milanesi R.Barbuti A.Moroni A. + Article (author) -