MARCHIONNI, ENRICA
MARCHIONNI, ENRICA
A de novo KCNA3 and an inherited KCNQ3 missense variant causing a developmental and epileptic encephalopathy, intellectual disability, and behavioral anomalies
2026-01-01 Marchionni, E; Colona, Vl; Agolini, E; Murdocca, M; Russo, M; Stellato, M; Latini, V; Campione, E; Nardone, Am; Spitalieri, P; Mazzone, L; Novelli, A; Sangiuolo, F; Novelli, G
Arrhythmogenic Cardiomyopathy PKP2-Related: Clinical and Functional Characterization of a Pathogenic Variant Detected in Two Italian Families
2025-01-01 Marchionni, E; Lomuscio, S; Latini, A; Murdocca, M; Romeo, F; Crescenzi, C; Calò, L; Novelli, G; Mango, R; Sangiuolo, F
Clinical and functional characterization of COL2A1 p.Gly444Ser variant: From a fetal phenotype to a previously undisclosed postnatal phenotype
2023-01-01 Marchionni, E; D'Apice, Mr; Lupo, V; Lattanzi, G; Mattioli, E; Lisignoli, G; Gabusi, E; Pepe, G; Helmer Citterich, M; Campione, E; Nardone, Am; Spitalieri, P; Pucci, N; Cocciadiferro, D; Picchi, E; Garaci, F; Novelli, A; Novelli, G
Donor selection for allogeneic hematopoietic cell transplant in a patient with JAK2 V617F primary myelofibrosis and SH2B3/LNK germline variant
2024-12-01 Ranucci, G; Page, C; Marchionni, E; Minotti, C; Silvestrini, G; Gastaldi, S; Pacitto, G; Cicconi, L; Biagi, A; Ferradini, V; Attardi, E; Novelli, G; Sangiuolo, F; Voso, Mt; Gurnari, C
DSP-related cardiomyopathy as a distinct clinical entity? Emerging evidence from an Italian cohort
2023-01-27 Di Lorenzo, F; Marchionni, E; Ferradini, V; Latini, A; Pezzoli, L; Martino, A; Romeo, F; Iorio, A; Bianchi, S; Iascone, M; Calo', L; Novelli, G; Mango, R; Sangiuolo, F
MYBPC3 c.2309-2A>G: exploring a founder variant in Italian hypertrophic cardiomyopathy patients
2025-01-01 Fabiani, M; Micolonghi, C; Caroselli, S; Savio, C; Petrucci, S; Tini, G; Musumeci, B; Pagannone, E; De Fazio, L; Germani, A; Visco, V; Pizzuti, A; Veneziano, L; Marchionni, E; Mango, R; Pezzoli, L; Bottillo, I; Lucca, C; Scatigno, A; Goisis, L; Cappuccini, F; Ciccone, Mp; Ballerini, A; Gozzini, A; Onofri, V; Cristalli, Cp; Latini, A; D?angelantonio, D; Gualandi, F; Tortora, G; Magliozzi, M; Novelli, A; Rossi, C; Grammatico, P; Sangiuolo, F; Girolami, F; Iascone, M; Olivotto, I; Autore, C; Rubattu, S; Piane, M
NOTCH3 variants of unknown significance underpin vascular dysfunction in neurodegenerative disease: a case series of three nfvPPA-FTD patients
2025-01-01 Di Donna, Mg; Colona, Vl; Bagnato, Mr; Bonomi, Cg; Tirrito, L; Marchionni, E; Motta, C; Sangiuolo, Fc; Martorana, A
Serum HDL-cholesterol is associated with the clinical-biological profile of early-stage Parkinson’s disease patients independently of APOE
2025-11-01 Mascioli, D; Conti, M; Bissacco, J; Bovenzi, R; Simonetta, C; Buttarazzi, V; Mancini, M; Bagetta, S; Sancesario, Gm; Maftei, D; Veltri, F; Marchionni, E; Stefani, A; Mercuri, Nb; Pieri, M; Schirinzi, T
The Diagnostic Value of Copy Number Variants in Genetic Cardiomyopathies and Channelopathies
2025-07-04 Caputo, V; Visconti, Vv; Marchionni, E; Ferradini, V; Balsano, C; De Vico, P; Calo, L; Mango, R; Novelli, G; Sangiuolo, F
Unexpected genomic architecture in a sporadic case of C1-INH Hereditary Angioedema: the hidden heritability
2025-11-05 Marchionni, E; Mannucci, L; Di Tommaso, S; Nardone, Am; Albanese, M; Novelli, A; Sangiuolo, Fc; Triggianese, P; Novelli, G
| Data di pubblicazione | Titolo | Autore(i) | Tipo | File |
|---|---|---|---|---|
| 1-gen-2026 | A de novo KCNA3 and an inherited KCNQ3 missense variant causing a developmental and epileptic encephalopathy, intellectual disability, and behavioral anomalies | Marchionni, E; Colona, Vl; Agolini, E; Murdocca, M; Russo, M; Stellato, M; Latini, V; Campione, E; Nardone, Am; Spitalieri, P; Mazzone, L; Novelli, A; Sangiuolo, F; Novelli, G | Articolo su rivista | |
| 1-gen-2025 | Arrhythmogenic Cardiomyopathy PKP2-Related: Clinical and Functional Characterization of a Pathogenic Variant Detected in Two Italian Families | Marchionni, E; Lomuscio, S; Latini, A; Murdocca, M; Romeo, F; Crescenzi, C; Calò, L; Novelli, G; Mango, R; Sangiuolo, F | Articolo su rivista | |
| 1-gen-2023 | Clinical and functional characterization of COL2A1 p.Gly444Ser variant: From a fetal phenotype to a previously undisclosed postnatal phenotype | Marchionni, E; D'Apice, Mr; Lupo, V; Lattanzi, G; Mattioli, E; Lisignoli, G; Gabusi, E; Pepe, G; Helmer Citterich, M; Campione, E; Nardone, Am; Spitalieri, P; Pucci, N; Cocciadiferro, D; Picchi, E; Garaci, F; Novelli, A; Novelli, G | Articolo su rivista | |
| 1-dic-2024 | Donor selection for allogeneic hematopoietic cell transplant in a patient with JAK2 V617F primary myelofibrosis and SH2B3/LNK germline variant | Ranucci, G; Page, C; Marchionni, E; Minotti, C; Silvestrini, G; Gastaldi, S; Pacitto, G; Cicconi, L; Biagi, A; Ferradini, V; Attardi, E; Novelli, G; Sangiuolo, F; Voso, Mt; Gurnari, C | Articolo su rivista | |
| 27-gen-2023 | DSP-related cardiomyopathy as a distinct clinical entity? Emerging evidence from an Italian cohort | Di Lorenzo, F; Marchionni, E; Ferradini, V; Latini, A; Pezzoli, L; Martino, A; Romeo, F; Iorio, A; Bianchi, S; Iascone, M; Calo', L; Novelli, G; Mango, R; Sangiuolo, F | Articolo su rivista | |
| 1-gen-2025 | MYBPC3 c.2309-2A>G: exploring a founder variant in Italian hypertrophic cardiomyopathy patients | Fabiani, M; Micolonghi, C; Caroselli, S; Savio, C; Petrucci, S; Tini, G; Musumeci, B; Pagannone, E; De Fazio, L; Germani, A; Visco, V; Pizzuti, A; Veneziano, L; Marchionni, E; Mango, R; Pezzoli, L; Bottillo, I; Lucca, C; Scatigno, A; Goisis, L; Cappuccini, F; Ciccone, Mp; Ballerini, A; Gozzini, A; Onofri, V; Cristalli, Cp; Latini, A; D?angelantonio, D; Gualandi, F; Tortora, G; Magliozzi, M; Novelli, A; Rossi, C; Grammatico, P; Sangiuolo, F; Girolami, F; Iascone, M; Olivotto, I; Autore, C; Rubattu, S; Piane, M | Articolo su rivista | |
| 1-gen-2025 | NOTCH3 variants of unknown significance underpin vascular dysfunction in neurodegenerative disease: a case series of three nfvPPA-FTD patients | Di Donna, Mg; Colona, Vl; Bagnato, Mr; Bonomi, Cg; Tirrito, L; Marchionni, E; Motta, C; Sangiuolo, Fc; Martorana, A | Articolo su rivista | |
| 1-nov-2025 | Serum HDL-cholesterol is associated with the clinical-biological profile of early-stage Parkinson’s disease patients independently of APOE | Mascioli, D; Conti, M; Bissacco, J; Bovenzi, R; Simonetta, C; Buttarazzi, V; Mancini, M; Bagetta, S; Sancesario, Gm; Maftei, D; Veltri, F; Marchionni, E; Stefani, A; Mercuri, Nb; Pieri, M; Schirinzi, T | Articolo su rivista | |
| 4-lug-2025 | The Diagnostic Value of Copy Number Variants in Genetic Cardiomyopathies and Channelopathies | Caputo, V; Visconti, Vv; Marchionni, E; Ferradini, V; Balsano, C; De Vico, P; Calo, L; Mango, R; Novelli, G; Sangiuolo, F | Articolo su rivista | |
| 5-nov-2025 | Unexpected genomic architecture in a sporadic case of C1-INH Hereditary Angioedema: the hidden heritability | Marchionni, E; Mannucci, L; Di Tommaso, S; Nardone, Am; Albanese, M; Novelli, A; Sangiuolo, Fc; Triggianese, P; Novelli, G | Articolo su rivista |