CASTELLOTTI, BARBARA

CASTELLOTTI, BARBARA  

Universita' degli Studi di MILANO  

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Risultati 1 - 12 di 12 (tempo di esecuzione: 0.0 secondi).
Titolo Data di pubblicazione Autori Tipo File Abstract
Further insights into Allan-Herndon-Dudley syndrome: a novel SLC16A2 splice site variant 2024 Esposito L.Mauri A.Rey F.Castellotti B.Zuccotti G.Tonduti D.Carelli S.Cereda C. + Conference Object -
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) -
A novel de novo HCN2 loss‐of‐function variant causing developmental and epileptic encephalopathy treated with a ketogenic diet 2023 Castellotti, BarbaraMessina, GiulianaPrevitali, RobertoVeggiotti, PierangeloMilanesi, RaffaellaBarbuti, Andrea + Article (author) -
Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis 2021 Ahmed S.Ticozzi N.Fallini C.Tiloca C.Colombrita C.Calini D.Pensato V.Castellotti B.Comi G. P.Del Bo R.Gagliardi S.Lauria G.Duga S.Corti S.Cereda C.Corrado L.Taroni F.Ratti A.Fratta P.Landi F.Lleo A.Galimberti D.Scarpini E.Serpente M.Zecca C.Ghidoni R.Silani V. + Article (author) -
Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study 2020 Castellotti, BTonduti, D + Article (author) -
Analysis of shared common genetic risk between amyotrophic lateral sclerosis and epilepsy 2020 Nicola TicozziPietro FrattaCristina CeredaRoberto Del BoStefania CortiGiacomo P. ComiLucia CorradoCinzia BertolinViviana PensatoCinzia TilocaAntonia RattiChiara ZeccaDaniela CaliniVincenzo SilaniBarbara CastellottiEnrica Bersano + Article (author) -
Novel mutations in SLC16A2 associated with a less severe phenotype of MCT8 deficiency 2019 Castellotti B.Salsano E.Tonduti D. + 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) -
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) -
NEK1 variants confer susceptibility to amyotrophic lateral sclerosis 2016 Ticozzi N.Tiloca C.Colombrita C.Verde F.Lauria G.Ratti A.Silani V.Comi G. P.Del Bo R.Corti S.Cereda C.Corrado L.Pensato V.Castellotti B. + Article (author) -
Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways 2015 Vincenzo SilaniNicola TicozziStefano DugaLucia CorradoDaniela CaliniClaudia ColombritaAntonia RattiCinzia TilocaCinzia BertolinBarbara CastellottiViviana PensatoCristina CeredaGiuseppe LauriaStefania CortiRoberto Del Bo + Article (author) -