ZAMPATTI, STEFANIA

ZAMPATTI, STEFANIA  

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Risultati 1 - 20 di 29 (tempo di esecuzione: 0.006 secondi).
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-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 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
1-gen-2018 Heterozygous PLA2G6 Mutation Leads to Iron Accumulation Within Basal Ganglia and Parkinson's Disease. Ferese, R; Scala, S; Biagioni, F; Giardina, E; Zampatti, S; Modugno, N; Colonnese, C; Storto, M; Fornai, F; Novelli, G; Ruggieri, S; Gambardella, S Articolo su rivista
1-gen-2018 Identification of Duchenne/Becker muscular dystrophy mosaic carriers through a combined DNA/RNA analysis Zampatti, S; Mela, J; Peconi, C; Pagliaroli, G; Carboni, S; Barrano, G; Zito, I; Cascella, R; Marella, G; Milano, F; Arcangeli, M; Caltagirone, C; Novelli, A; Giardina, E Articolo su rivista
28-mar-2024 Innovations in medicine: exploring ChatGPT's impact on rare disorder management Zampatti, S; Peconi, C; Megalizzi, D; Calvino, G; Trastulli, G; Cascella, R; Strafella, C; Caltagirone, C; Giardina, E Articolo su rivista
22-ott-2024 Integrating D4Z4 methylation analysis into clinical practice: improvement of FSHD molecular diagnosis through distinct thresholds for 4qA/4qA and 4qA/4qB patients Strafella, C; Megalizzi, D; Trastulli, G; Proietti Piorgo, E; Colantoni, L; Tasca, G; Monforte, M; Zampatti, S; Primiano, G; Sancricca, C; Bortolani, S; Torchia, E; Ravera, B; Torri, F; Gadaleta, G; Risi, B; Caria, F; Gerardi, F; Carraro, E; Gioiosa, V; Garibaldi, M; Tufano, L; Frezza, E; Massa, R; Caltagirone, C; Pennisi, Em; Petrucci, A; Pane, M; Frongia, A; Gragnani, F; Scutifero, M; Mandich, P; Grandis, M; Maioli, Ma; Casali, C; Manfroi, E; Politano, L; Passamano, L; Petillo, R; Rodolico, C; Pugliese, A; Previtali, Sc; Sansone, V; Vercelli, L; Mongini, Te; Ricci, G; Siciliano, G; Filosto, M; Ricci, E; Cascella, R; Giardina, E; Null, N Articolo su rivista