Sfoglia per Autore
A large family with p.Arg554His mutation in ABCD1: clinical features and genotype/phenotype correlation in female carriers
2021-05-01 Campopiano, R; Femiano, C; Chiaravalloti, M; Ferese, R; Centonze, D; Buttari, F; Zampatti, S; Fanelli, M; Amatori, S; D'Alessio, C; Giardina, E; Fornai, F; Biagioni, F; Storto, M; Gambardella, S
Decipher non-canonical SPAST splicing mutations with the help of functional assays in patients affected by spastic paraplegia 4 (SPG4)
2022-08-01 Ferese, R; Scala, S; Suppa, A; Campopiano, R; Asci, F; Chiaravalloti, Ma; Zampogna, A; D'Alessio, C; Fittipaldi, F; Buttari, F; Di Pardo, A; Giardina, E; Zampatti, S; Fornai, F; Novelli, G; Fanelli, M; Zecca, C; Logroscino, G; Centonze, D; Gambardella, S
Cohort analysis of novel SPAST variants in SPG4 patients and implementation of in vitro and in vivo studies to identify the pathogenic mechanism caused by splicing mutations
2023-01-01 Ferese, R; Scala, S; Suppa, A; Campopiano, R; Asci, F; Zampogna, A; Chiaravalloti, Ma; Griguoli, A; Storto, M; Pardo, Ad; Giardina, E; Zampatti, S; Fornai, F; Novelli, G; Fanelli, M; Zecca, C; Logroscino, G; Centonze, D; Gambardella, S
| Data di pubblicazione | Titolo | Autore(i) | Tipo | File |
|---|---|---|---|---|
| 1-mag-2021 | A large family with p.Arg554His mutation in ABCD1: clinical features and genotype/phenotype correlation in female carriers | Campopiano, R; Femiano, C; Chiaravalloti, M; Ferese, R; Centonze, D; Buttari, F; Zampatti, S; Fanelli, M; Amatori, S; D'Alessio, C; Giardina, E; Fornai, F; Biagioni, F; Storto, M; Gambardella, S | Articolo su rivista | |
| 1-ago-2022 | Decipher non-canonical SPAST splicing mutations with the help of functional assays in patients affected by spastic paraplegia 4 (SPG4) | Ferese, R; Scala, S; Suppa, A; Campopiano, R; Asci, F; Chiaravalloti, Ma; Zampogna, A; D'Alessio, C; Fittipaldi, F; Buttari, F; Di Pardo, A; Giardina, E; Zampatti, S; Fornai, F; Novelli, G; Fanelli, M; Zecca, C; Logroscino, G; Centonze, D; Gambardella, S | Articolo su rivista | |
| 1-gen-2023 | Cohort analysis of novel SPAST variants in SPG4 patients and implementation of in vitro and in vivo studies to identify the pathogenic mechanism caused by splicing mutations | Ferese, R; Scala, S; Suppa, A; Campopiano, R; Asci, F; Zampogna, A; Chiaravalloti, Ma; Griguoli, A; Storto, M; Pardo, Ad; Giardina, E; Zampatti, S; Fornai, F; Novelli, G; Fanelli, M; Zecca, C; Logroscino, G; Centonze, D; Gambardella, S | Articolo su rivista |
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