ZAMPATTI, STEFANIA
ZAMPATTI, STEFANIA
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
A New Splicing Mutation in the L1CAM Gene Responsible for X-Linked Hydrocephalus (HSAS)
2016-01-01 Ferese, R; Zampatti, S; Griguoli, A; Fornai, F; Giardina, E; Barrano, G; Albano, V; Campopiano, R; Scala, S; Novelli, G; Gambardella, S
A novel POLR3A genotype leads to leukodystrophy type-7 in two siblings with unusually late age of onset
2020-06-29 Campopiano, R; Ferese, R; Zampatti, S; Giardina, E; Biagioni, F; Colonnese, C; Centonze, D; Storto, M; Buttari, F; Fraviga, E; Broccoli, V; Fanelli, M; Fornai, F; Gambardella, S
A Splicing Variant in RDH8 Is Associated with Autosomal Recessive Stargardt Macular Dystrophy
2023-01-01 Zampatti, S; Peconi, C; Calvino, G; Ferese, R; Gambardella, S; Cascella, R; Sebastiani, J; Falsini, B; Cusumano, A; Giardina, E
Application of precision medicine in neurodegenerative diseases
2018-01-01 Strafella, C; Caputo, V; Galota, Mr; Zampatti, S; Marella, G; Mauriello, S; Cascella, R; Giardina, E
Autophagy increase in Merosin-Deficient Congenital Muscular Dystrophy type 1A
2023-01-01 Mastrapasqua, M; Rossi, R; De Cosmo, L; Resta, A; Errede, M; Bizzoca, A; Zampatti, S; Resta, N; Giardina, E; Ruggieri, M; Virgintino, D; Annese, T; Laforgia, N; Girolamo, F
Bioinformatic tools are essential to integrating pharmacogenomics into clinical practice: lessons from neuropsychiatric disorders
2022-01-01 Zampatti, S; Giardina, E
C9orf72-Related Neurodegenerative Diseases: From Clinical Diagnosis to Therapeutic Strategies
2022-01-01 Zampatti, S; Peconi, C; Campopiano, R; Gambardella, S; Caltagirone, C; Giardina, E
Co-Inheritance of Pathogenic Variants in PKD1 and PKD2 Genes Determined by Parental Segregation and De Novo Origin: A Case Report
2023-01-01 Graziani, L; Zampatti, S; Carriero, Ml; Minotti, C; Peconi, C; Bengala, M; Giardina, E; Novelli, G
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
Comparative analysis between saliva and buccal swabs as source of DNA: Lesson from HLA-B∗57:01 testing
2015-01-01 Cascella, R; Stocchi, L; Strafella, C; Mezzaroma, I; Mannazzu, M; Vullo, V; Montella, F; Parruti, G; Borgiani, P; Sangiuolo, Fc; Novelli, G; Pirazzoli, A; Zampatti, S; Giardina, E
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
Digenic inheritance of shortened repeat units of the D4Z4 region and a loss-of-function variant in SMCHD1 in a Family with FSHD
2018-01-01 Cascella, R; Strafella, C; Caputo, V; Galota, Rm; Errichiello, V; Scutifero, M; Petillo, R; Marella, Gl; Arcangeli, M; Colantoni, L; Zampatti, S; Ricci, E; Deidda, G; Politano, L; Giardina, E
Direct PCR: a new pharmacogenetic approach for the inexpensive testing of HLA-B*57:01
2015-01-01 Cascella, R; Strafella, C; Ragazzo, M; Zampatti, S; Borgiani, P; Gambardella, S; Pirazzoli, A; Novelli, G; Giardina, E
Distribution of the C9orf72 hexanucleotide repeat expansion in healthy subjects: a multicenter study promoted by the Italian IRCCS network of neuroscience and neurorehabilitation
2024-01-31 Giardina, E; Mandich, P; Ghidoni, R; Ticozzi, N; Rossi, G; Fenoglio, C; Tiziano, F; Esposito, F; Capellari, S; Nacmias, B; Mineri, R; Campopiano, R; Di Pilla, L; Sammarone, F; Zampatti, S; Peconi, C; De Angelis, F; Palmieri, I; Galandra, C; Nicodemo, E; Origone, P; Gotta, F; Ponti, C; Nicsanu, R; Benussi, L; Peverelli, S; Ratti, A; Ricci, M; Di Fede, G; Magri, S; Serpente, M; Lattante, S; Domi, T; Carrera, P; Saltimbanco, E; Bagnoli, S; Ingannato, A; Albanese, A; Tagliavini, F; Lodi, R; Caltagirone, C; Gambardella, S; Valente, E; Silani, V
Facioscapulohumeral muscular dystrophy (FSHD) molecular diagnosis: from traditional technology to the NGS era.
2019-01-01 Zampatti, S; Colantoni, L; Strafella, C; Galota, R; Caputo, V; Campoli, G; Pagliaroli, G; Carboni, S; Mela, J; Peconi, C; Gambardella, S; Cascella, R; Giardina, E
Familial Kaposi's Sarcoma in HHV8 infected subjects presenting the G-174C allele of the IL-6 promoter: a possible role for EBV?
2014-08-01 Cordiali Fei, P; Latini, A; Trento, E; Zampatti, S; Ferraresi, V; Cota, C; Volpi, S; D'Agosto, G; Bordignon, V; Giardina, E; Di Carlo, A; Cristaudo, A; Ensoli, F
Genetic counseling and NGS screening for recessive LGMD2A families
2020-01-01 Strafella, C; Caputo, V; Campoli, G; Galota, R; Mela, J; Zampatti, S; Minozzi, G; Sancricca, C; Servidei, S; Giardina, E; Cascella, R
Genetic counselling improves the molecular characterisation of dementing disorders
2021-01-01 Zampatti, S; Ragazzo, M; Peconi, C; Luciano, S; Gambardella, S; Caputo, V; Strafella, C; Cascella, R; Caltagirone, C; Giardina, E
Harmonizing genetic testing for Parkinson's disease: results of the PARKNET multicentric study
2023-01-01 Di Fonzo, A; Percetti, M; Monfrini, E; Palmieri, I; Albanese, A; Avenali, M; Bartoletti-Stella, A; Blandini, F; Brescia, G; Calandra-Buonaura, G; Campopiano, R; Capellari, S; Colangelo, I; Comi, Gp; Cuconato, G; Ferese, R; Galandra, C; Gambardella, S; Garavaglia, B; Gaudio, A; Giardina, E; Invernizzi, F; Mandich, P; Mineri, R; Panteghini, C; Reale, C; Trevisan, L; Zampatti, S; Cortelli, P; Valente, Em
| 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-gen-2016 | A New Splicing Mutation in the L1CAM Gene Responsible for X-Linked Hydrocephalus (HSAS) | Ferese, R; Zampatti, S; Griguoli, A; Fornai, F; Giardina, E; Barrano, G; Albano, V; Campopiano, R; Scala, S; Novelli, G; Gambardella, S | Articolo su rivista | |
| 29-giu-2020 | A novel POLR3A genotype leads to leukodystrophy type-7 in two siblings with unusually late age of onset | Campopiano, R; Ferese, R; Zampatti, S; Giardina, E; Biagioni, F; Colonnese, C; Centonze, D; Storto, M; Buttari, F; Fraviga, E; Broccoli, V; Fanelli, M; Fornai, F; Gambardella, S | Articolo su rivista | |
| 1-gen-2023 | A Splicing Variant in RDH8 Is Associated with Autosomal Recessive Stargardt Macular Dystrophy | Zampatti, S; Peconi, C; Calvino, G; Ferese, R; Gambardella, S; Cascella, R; Sebastiani, J; Falsini, B; Cusumano, A; Giardina, E | Articolo su rivista | |
| 1-gen-2018 | Application of precision medicine in neurodegenerative diseases | Strafella, C; Caputo, V; Galota, Mr; Zampatti, S; Marella, G; Mauriello, S; Cascella, R; Giardina, E | Articolo su rivista | |
| 1-gen-2023 | Autophagy increase in Merosin-Deficient Congenital Muscular Dystrophy type 1A | Mastrapasqua, M; Rossi, R; De Cosmo, L; Resta, A; Errede, M; Bizzoca, A; Zampatti, S; Resta, N; Giardina, E; Ruggieri, M; Virgintino, D; Annese, T; Laforgia, N; Girolamo, F | Articolo su rivista | |
| 1-gen-2022 | Bioinformatic tools are essential to integrating pharmacogenomics into clinical practice: lessons from neuropsychiatric disorders | Zampatti, S; Giardina, E | Articolo su rivista | |
| 1-gen-2022 | C9orf72-Related Neurodegenerative Diseases: From Clinical Diagnosis to Therapeutic Strategies | Zampatti, S; Peconi, C; Campopiano, R; Gambardella, S; Caltagirone, C; Giardina, E | Articolo su rivista | |
| 1-gen-2023 | Co-Inheritance of Pathogenic Variants in PKD1 and PKD2 Genes Determined by Parental Segregation and De Novo Origin: A Case Report | Graziani, L; Zampatti, S; Carriero, Ml; Minotti, C; Peconi, C; Bengala, M; Giardina, E; Novelli, G | 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 | |
| 1-gen-2015 | Comparative analysis between saliva and buccal swabs as source of DNA: Lesson from HLA-B∗57:01 testing | Cascella, R; Stocchi, L; Strafella, C; Mezzaroma, I; Mannazzu, M; Vullo, V; Montella, F; Parruti, G; Borgiani, P; Sangiuolo, Fc; Novelli, G; Pirazzoli, A; Zampatti, S; Giardina, E | 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-2018 | Digenic inheritance of shortened repeat units of the D4Z4 region and a loss-of-function variant in SMCHD1 in a Family with FSHD | Cascella, R; Strafella, C; Caputo, V; Galota, Rm; Errichiello, V; Scutifero, M; Petillo, R; Marella, Gl; Arcangeli, M; Colantoni, L; Zampatti, S; Ricci, E; Deidda, G; Politano, L; Giardina, E | Articolo su rivista | |
| 1-gen-2015 | Direct PCR: a new pharmacogenetic approach for the inexpensive testing of HLA-B*57:01 | Cascella, R; Strafella, C; Ragazzo, M; Zampatti, S; Borgiani, P; Gambardella, S; Pirazzoli, A; Novelli, G; Giardina, E | Articolo su rivista | |
| 31-gen-2024 | Distribution of the C9orf72 hexanucleotide repeat expansion in healthy subjects: a multicenter study promoted by the Italian IRCCS network of neuroscience and neurorehabilitation | Giardina, E; Mandich, P; Ghidoni, R; Ticozzi, N; Rossi, G; Fenoglio, C; Tiziano, F; Esposito, F; Capellari, S; Nacmias, B; Mineri, R; Campopiano, R; Di Pilla, L; Sammarone, F; Zampatti, S; Peconi, C; De Angelis, F; Palmieri, I; Galandra, C; Nicodemo, E; Origone, P; Gotta, F; Ponti, C; Nicsanu, R; Benussi, L; Peverelli, S; Ratti, A; Ricci, M; Di Fede, G; Magri, S; Serpente, M; Lattante, S; Domi, T; Carrera, P; Saltimbanco, E; Bagnoli, S; Ingannato, A; Albanese, A; Tagliavini, F; Lodi, R; Caltagirone, C; Gambardella, S; Valente, E; Silani, V | Articolo su rivista | |
| 1-gen-2019 | Facioscapulohumeral muscular dystrophy (FSHD) molecular diagnosis: from traditional technology to the NGS era. | Zampatti, S; Colantoni, L; Strafella, C; Galota, R; Caputo, V; Campoli, G; Pagliaroli, G; Carboni, S; Mela, J; Peconi, C; Gambardella, S; Cascella, R; Giardina, E | Articolo su rivista | |
| 1-ago-2014 | Familial Kaposi's Sarcoma in HHV8 infected subjects presenting the G-174C allele of the IL-6 promoter: a possible role for EBV? | Cordiali Fei, P; Latini, A; Trento, E; Zampatti, S; Ferraresi, V; Cota, C; Volpi, S; D'Agosto, G; Bordignon, V; Giardina, E; Di Carlo, A; Cristaudo, A; Ensoli, F | Articolo su rivista | |
| 1-gen-2020 | Genetic counseling and NGS screening for recessive LGMD2A families | Strafella, C; Caputo, V; Campoli, G; Galota, R; Mela, J; Zampatti, S; Minozzi, G; Sancricca, C; Servidei, S; Giardina, E; Cascella, R | Articolo su rivista | |
| 1-gen-2021 | Genetic counselling improves the molecular characterisation of dementing disorders | Zampatti, S; Ragazzo, M; Peconi, C; Luciano, S; Gambardella, S; Caputo, V; Strafella, C; Cascella, R; Caltagirone, C; Giardina, E | Articolo su rivista | |
| 1-gen-2023 | Harmonizing genetic testing for Parkinson's disease: results of the PARKNET multicentric study | Di Fonzo, A; Percetti, M; Monfrini, E; Palmieri, I; Albanese, A; Avenali, M; Bartoletti-Stella, A; Blandini, F; Brescia, G; Calandra-Buonaura, G; Campopiano, R; Capellari, S; Colangelo, I; Comi, Gp; Cuconato, G; Ferese, R; Galandra, C; Gambardella, S; Garavaglia, B; Gaudio, A; Giardina, E; Invernizzi, F; Mandich, P; Mineri, R; Panteghini, C; Reale, C; Trevisan, L; Zampatti, S; Cortelli, P; Valente, Em | Articolo su rivista |