ZAMPATTI, STEFANIA

ZAMPATTI, STEFANIA  

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Risultati 1 - 20 di 24 (tempo di esecuzione: 0.016 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
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-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
1-gen-2019 Limb-Girdle Muscular Dystrophies (LGMDs): The Clinical Application of NGS Analysis, a Family Case Report. Strafella, C; Campoli, G; Galota, R; Caputo, V; Pagliaroli, G; Carboni, S; Zampatti, S; Peconi, C; Mela, J; Sancricca, C; Primiano, G; Minozzi, G; Servidei, S; Cascella, R; Giardina, E Articolo su rivista
1-gen-2019 Migrainous Infarction in a Patient With Sporadic Hemiplegic Migraine and Cystic Fibrosis: A 99mTc-HMPAO Brain SPECT Study. Mancini, V; Mastria, G; Frantellizzi, V; Troiani, P; Zampatti, S; Carboni, S; Giardina, E; Campopiano, R; Gambardella, S; Turchi, F; Petolicchio, B; Toscano, M; Liberatore, M; Viganò, A; Di Piero, V Articolo su rivista
1-gen-2017 Next Generation Sequencing and ALS: known genes, different phenotyphes. Campopiano, R; Ryskalin, L; Giardina, E; Zampatti, S; Busceti, C; Biagioni, F; Ferese, R; Storto, M; Gambardella, S; Fornai, F Articolo su rivista
1-ott-2019 Ngs analysis for molecular diagnosis of Retinitis Pigmentosa (RP): Detection of a novel variant in PRPH2 gene Strafella, C; Caputo, V; Pagliaroli, G; Iozzo, N; Campoli, G; Carboni, S; Peconi, C; Galota, Rm; Zampatti, S; Minozzi, G; Novelli, G; Giardina, E; Cascella, R Articolo su rivista