GAMBARDELLA, STEFANO
GAMBARDELLA, STEFANO
Biopatologia e Diagnostica per Immagini (attivo dal 1990 al 2012)
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 single nucleotide ADA genetic variant is associated to central inflammation and clinical presentation in MS: implications for cladribine treatment
2020-01-01 Stampanoni Bassi, M; Buttari, F; Simonelli, I; Gilio, L; Furlan, R; Finardi, A; Marfia, Ga; Visconti, A; Paolillo, A; Storto, M; Gambardella, S; Ferese, R; Salvetti, M; Uccelli, A; Matarese, G; Centonze, D; De Vito, F
An attempt to dissect a peripheral marker based on cell pathology in Parkinson's disease
2021-01-01 Biagioni, F; Ferese, R; Giorgi, Fs; Modugno, N; Olivola, E; Lenzi, P; Gambardella, S; Centonze, D; Ruggieri, S; Fornai, F
Analysis of ACE2 Genetic Variability among Populations Highlights a Possible Link with COVID-19-Related Neurological Complications
2020-01-01 Strafella, C; Caputo, V; Termine, A; Barati, S; Gambardella, S; Borgiani, P; Caltagirone, C; Novelli, G; Giardina, E; Cascella, R
Assessing individual risk for AMD with genetic counseling, family history, and genetic testing
2018-01-01 Cascella, R; Strafella, C; Longo, G; Manzo, L; Ragazzo, M; De Felici, C; Gambardella, S; Marsella, Lt; Novelli, G; Borgiani, P; Sangiuolo, F; Cusumano, A; Ricci, F; Giardina, E
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
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
Denaturing HPLC in laboratory diagnosis of hereditary angioedema
2007-10-01 Guarino, Md; Perricone, C; Guarino, S; Gambardella, S; D'Apice, M; Fontana, L; Novelli, G; Perricone, R
Design, construction and validation of targeted BAC array-based CGH test for detecting the most commons chromosomal abnormalities
2010-01-01 Gambardella, S; Ciabattoni, E; Motta, F; Stoico, G; Gullotta, F; Biancolella, M; Nardone, A; Novelli, A; Brunetti, E; Bernardini, L; Novelli, G
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
Four copies of SNCA responsible for autosomal dominant Parkinson's disease in two Italian siblings
2015-01-01 Ferese, R; Modugno, N; Campopiano, R; Santilli, M; Zampatti, S; Giardina, E; Nardone, A; Postorivo, D; Fornai, F; Novelli, G; Romoli, E; Ruggieri, S; Gambardella, S
Genetic regulation of IL-8 influences disease presentation of multiple sclerosis
2023-04-01 Dolcetti, E; Bruno, A; Azzolini, F; Gilio, L; Pavone, L; Iezzi, E; Galifi, G; Gambardella, S; Ferese, R; Buttari, F; De Vito, F; Colantuono, P; Furlan, R; Finardi, A; Musella, A; Mandolesi, G; Centonze, D; Stampanoni Bassi, M
Immune System and Neuroinflammation in Idiopathic Parkinson's Disease: Association Analysis of Genetic Variants and miRNAs Interactions
2021-01-01 Strafella, C; Caputo, V; Termine, A; Assogna, F; Pellicano, C; Pontieri, Fe; Macchiusi, L; Minozzi, G; Gambardella, S; Centonze, D; Bossù, P; Spalletta, G; Caltagirone, C; Giardina, E; Cascella, R
Interleukin 6 SNP rs1818879 Regulates Radiological and Inflammatory Activity in Multiple Sclerosis
2022-05-17 Bruno, A; Dolcetti, E; Azzolini, F; Moscatelli, A; Gambardella, S; Ferese, R; Rizzo, Fr; Gilio, L; Iezzi, E; Galifi, G; Borrelli, A; Buttari, F; Furlan, R; Finardi, A; De Vito, F; Musella, A; Guadalupi, L; Mandolesi, G; Centonze, D; Stampanoni Bassi, M
Structural modeling of altered CLCN1 conformation following a novel mutation in a patient affected by autosomal dominant myotonia congenita (Thomsen disease)
2017-01-01 Ferese, R; Albano, V; Falconi, M; Iacovelli, F; Campopiano, R; Scala, S; Griguoli, Am; Gaglione, A; Giardina, E; Zampatti, S; Storto, M; Fornai, F; D'Alessio, C; Novelli, G; Gambardella, S
The BDNF Val66Met Polymorphism (rs6265) Modulates Inflammation and Neurodegeneration in the Early Phases of Multiple Sclerosis
2022-02-10 Dolcetti, E; Bruno, A; Azzolini, F; Gilio, L; Moscatelli, A; De Vito, F; Pavone, L; Iezzi, E; Gambardella, S; Giardina, E; Ferese, R; Buttari, F; Rizzo, Fr; Furlan, R; Finardi, A; Musella, A; Mandolesi, G; Guadalupi, L; Centonze, D; Stampanoni Bassi, M
The etiology of acute recurrent pancreatitis in children: A challenge for pediatricians
2011-01-01 Lucidi, V; Alghisi, F; Dall'Oglio, L; D'Apice, Mr; Monti, L; De Angelis, P; Gambardella, S; Angioni, A; Novelli, G
The monoamine brainstem reticular formation as a paradigm for re-defining various phenotypes of parkinson’s disease owing genetic and anatomical specificity
2017-01-01 Gambardella, S; Ferese, R; Biagioni, F; Busceti, C; Campopiano, R; Griguoli, A; Limanaqi, F; Novelli, G; Storto, M; Fornai, F
Vacuolar protein sorting genesin Parkinson’s disease: a re-appraisal of mutations detection rate and neurobiology of disease
2016-01-01 Gambardella, S; Biagioni, F; Ferese, R; Busceti, C; Frati, A; Novelli, G; Ruggieri, S; Fornai, F
| Data di pubblicazione | Titolo | Autore(i) | Tipo | File |
|---|---|---|---|---|
| 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-2020 | A single nucleotide ADA genetic variant is associated to central inflammation and clinical presentation in MS: implications for cladribine treatment | Stampanoni Bassi, M; Buttari, F; Simonelli, I; Gilio, L; Furlan, R; Finardi, A; Marfia, Ga; Visconti, A; Paolillo, A; Storto, M; Gambardella, S; Ferese, R; Salvetti, M; Uccelli, A; Matarese, G; Centonze, D; De Vito, F | Articolo su rivista | |
| 1-gen-2021 | An attempt to dissect a peripheral marker based on cell pathology in Parkinson's disease | Biagioni, F; Ferese, R; Giorgi, Fs; Modugno, N; Olivola, E; Lenzi, P; Gambardella, S; Centonze, D; Ruggieri, S; Fornai, F | Articolo su rivista | |
| 1-gen-2020 | Analysis of ACE2 Genetic Variability among Populations Highlights a Possible Link with COVID-19-Related Neurological Complications | Strafella, C; Caputo, V; Termine, A; Barati, S; Gambardella, S; Borgiani, P; Caltagirone, C; Novelli, G; Giardina, E; Cascella, R | Articolo su rivista | |
| 1-gen-2018 | Assessing individual risk for AMD with genetic counseling, family history, and genetic testing | Cascella, R; Strafella, C; Longo, G; Manzo, L; Ragazzo, M; De Felici, C; Gambardella, S; Marsella, Lt; Novelli, G; Borgiani, P; Sangiuolo, F; Cusumano, A; Ricci, F; Giardina, E | 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-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-ott-2007 | Denaturing HPLC in laboratory diagnosis of hereditary angioedema | Guarino, Md; Perricone, C; Guarino, S; Gambardella, S; D'Apice, M; Fontana, L; Novelli, G; Perricone, R | Articolo su rivista | |
| 1-gen-2010 | Design, construction and validation of targeted BAC array-based CGH test for detecting the most commons chromosomal abnormalities | Gambardella, S; Ciabattoni, E; Motta, F; Stoico, G; Gullotta, F; Biancolella, M; Nardone, A; Novelli, A; Brunetti, E; Bernardini, L; Novelli, G | 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-2015 | Four copies of SNCA responsible for autosomal dominant Parkinson's disease in two Italian siblings | Ferese, R; Modugno, N; Campopiano, R; Santilli, M; Zampatti, S; Giardina, E; Nardone, A; Postorivo, D; Fornai, F; Novelli, G; Romoli, E; Ruggieri, S; Gambardella, S | Articolo su rivista | |
| 1-apr-2023 | Genetic regulation of IL-8 influences disease presentation of multiple sclerosis | Dolcetti, E; Bruno, A; Azzolini, F; Gilio, L; Pavone, L; Iezzi, E; Galifi, G; Gambardella, S; Ferese, R; Buttari, F; De Vito, F; Colantuono, P; Furlan, R; Finardi, A; Musella, A; Mandolesi, G; Centonze, D; Stampanoni Bassi, M | Articolo su rivista | |
| 1-gen-2021 | Immune System and Neuroinflammation in Idiopathic Parkinson's Disease: Association Analysis of Genetic Variants and miRNAs Interactions | Strafella, C; Caputo, V; Termine, A; Assogna, F; Pellicano, C; Pontieri, Fe; Macchiusi, L; Minozzi, G; Gambardella, S; Centonze, D; Bossù, P; Spalletta, G; Caltagirone, C; Giardina, E; Cascella, R | Articolo su rivista | |
| 17-mag-2022 | Interleukin 6 SNP rs1818879 Regulates Radiological and Inflammatory Activity in Multiple Sclerosis | Bruno, A; Dolcetti, E; Azzolini, F; Moscatelli, A; Gambardella, S; Ferese, R; Rizzo, Fr; Gilio, L; Iezzi, E; Galifi, G; Borrelli, A; Buttari, F; Furlan, R; Finardi, A; De Vito, F; Musella, A; Guadalupi, L; Mandolesi, G; Centonze, D; Stampanoni Bassi, M | Articolo su rivista | |
| 1-gen-2017 | Structural modeling of altered CLCN1 conformation following a novel mutation in a patient affected by autosomal dominant myotonia congenita (Thomsen disease) | Ferese, R; Albano, V; Falconi, M; Iacovelli, F; Campopiano, R; Scala, S; Griguoli, Am; Gaglione, A; Giardina, E; Zampatti, S; Storto, M; Fornai, F; D'Alessio, C; Novelli, G; Gambardella, S | Articolo su rivista | |
| 10-feb-2022 | The BDNF Val66Met Polymorphism (rs6265) Modulates Inflammation and Neurodegeneration in the Early Phases of Multiple Sclerosis | Dolcetti, E; Bruno, A; Azzolini, F; Gilio, L; Moscatelli, A; De Vito, F; Pavone, L; Iezzi, E; Gambardella, S; Giardina, E; Ferese, R; Buttari, F; Rizzo, Fr; Furlan, R; Finardi, A; Musella, A; Mandolesi, G; Guadalupi, L; Centonze, D; Stampanoni Bassi, M | Articolo su rivista | |
| 1-gen-2011 | The etiology of acute recurrent pancreatitis in children: A challenge for pediatricians | Lucidi, V; Alghisi, F; Dall'Oglio, L; D'Apice, Mr; Monti, L; De Angelis, P; Gambardella, S; Angioni, A; Novelli, G | Articolo su rivista | |
| 1-gen-2017 | The monoamine brainstem reticular formation as a paradigm for re-defining various phenotypes of parkinson’s disease owing genetic and anatomical specificity | Gambardella, S; Ferese, R; Biagioni, F; Busceti, C; Campopiano, R; Griguoli, A; Limanaqi, F; Novelli, G; Storto, M; Fornai, F | Articolo su rivista | |
| 1-gen-2016 | Vacuolar protein sorting genesin Parkinson’s disease: a re-appraisal of mutations detection rate and neurobiology of disease | Gambardella, S; Biagioni, F; Ferese, R; Busceti, C; Frati, A; Novelli, G; Ruggieri, S; Fornai, F | Articolo su rivista |