GAMBARDELLA, STEFANO
GAMBARDELLA, STEFANO
Dipartimento di Scienze Biomolecolari (DISB)
A fluorescence-based sequence-specific primer PCR for the screening of HLA-B*57:01
2010 Giardina, E; Stocchi, L; Cuzzola, Vf; Zampatti, S; Gambardella, S; Patrizi, Mp; Bramanti, P; Pirazzoli, A; Novelli, G
A Focus on the Beneficial Effects of Alpha Synuclein and a Re-Appraisal of Synucleinopathies
2018 Ryskalin, Larisa; Busceti, Carla L; Limanaqi, Fiona; Biagioni, Francesca; Gambardella, Stefano; Fornai, Francesco
A Large Family with p.Arg554His Mutation in ABCD1: Clinical Features and Genotype/Phenotype Correlation in Female Carriers
2021 Campopiano, Rosa; Femiano, Cinzia; Chiaravalloti, Maria Antonietta; Ferese, Rosangela; Centonze, Diego; Buttari, Fabio; Zampatti, Stefania; Fanelli, Mirco; Amatori, Stefano; D'Alessio, Carmelo; Giardina, Emiliano; Fornai, Francesco; Biagioni, Francesca; Storto, Marianna; Gambardella, Stefano
A New Splicing Mutation in the L1CAM Gene Responsible for X-Linked Hydrocephalus (HSAS)
2016 Ferese, R; Zampatti, S; Griguoli, Amp; Fornai, F; Giardina, E; Barrano, G; Albano, V; Campopiano, R; Scala, S; Novelli, G; Gambardella, S
A Novel ATP1A2 Gene Variant Associated With Pure Sporadic Hemiplegic Migraine Improved After Patent Foramen Ovale Closure: A Case Report
2018 Perrotta, Armando; Gambardella, Stefano; Ambrosini, Anna; Anastasio, Maria Grazia; Albano, Veronica; Fornai, Francesco; Pierelli, Francesco
A Novel Homozygous Variant in the Fork-Head-Associated Domain of Polynucleotide Kinase Phosphatase in a Patient Affected by Late-Onset Ataxia With Oculomotor Apraxia Type 4
2020 Campopiano, Rosa; Ferese, Rosangela; Buttari, Fabio; Femiano, Cinzia; Centonze, Diego; Fornai, Francesco; Biagioni, Francesca; Chiaravalloti, Maria Antonietta; Magnani, Mauro; Giardina, Emiliano; Ruzzo, Anna; Gambardella, Stefano
A novel POLR3A genotype leads to leukodystrophy type-7 in two siblings with unusually late age of onset
2020 Campopiano, Rosa; Ferese, Rosangela; Zampatti, Stefania; Giardina, Emiliano; Biagioni, Francesca; Colonnese, Claudio; Centonze, Diego; Storto, Marianna; Buttari, Fabio; Fraviga, Edoardo; Broccoli, Vania; Fanelli, Mirco; Fornai, Francesco; Gambardella, Stefano
A Single Nucleotide ADA Genetic Variant Is Associated to Central Inflammation and Clinical Presentation in MS: Implications for Cladribine Treatment
2020 Stampanoni Bassi, Mario; Buttari, Fabio; Simonelli, Ilaria; Gilio, Luana; Furlan, Roberto; Finardi, Annamaria; Marfia, Girolama Alessandra; Visconti, Andrea; Paolillo, Andrea; Storto, Marianna; Gambardella, Stefano; Ferese, Rosangela; Salvetti, Marco; Uccelli, Antonio; Matarese, Giuseppe; Centonze, Diego; De Vito, Francesca
A Splicing Variant in RDH8 Is Associated with Autosomal Recessive Stargardt Macular Dystrophy
2023 Zampatti, Stefania; Peconi, Cristina; Calvino, Giulia; Ferese, Rosangela; Gambardella, Stefano; Cascella, Raffaella; Sebastiani, Jacopo; Falsini, Benedetto; Cusumano, Andrea; Giardina, Emiliano
Ambiguous Effects of Autophagy Activation Following Hypoperfusion/Ischemia
2018 Ferrucci, Michela; Biagioni, Francesca; Ryskalin, Larisa; Limanaqi, Fiona; Gambardella, Stefano; Frati, Alessandro; Fornai, Francesco
An attempt to dissect a peripheral marker based on cell pathology in Parkinson's disease
2021 Biagioni, Francesca; Ferese, Rosangela; Giorgi, Filippo Sean; Modugno, Nicola; Olivola, Enrica; Lenzi, Paola; Gambardella, Stefano; Centonze, Diego; Ruggieri, Stefano; Fornai, Francesco
Analysis of ACE2 Genetic Variability among Populations Highlights a Possible Link with COVID-19-Related Neurological Complications
2020 Strafella, Claudia; Caputo, Valerio; Termine, Andrea; Barati, Shila; Gambardella, Stefano; Borgiani, Paola; Caltagirone, Carlo; Novelli, Giuseppe; Giardina, Emiliano; Cascella, Raffaella
Assessing individual risk for AMD with genetic counseling, family history, and genetic testing
2017 Cascella, R; Strafella, C; Longo, G; Manzo, L; Ragazzo, M; De Felici, C; Gambardella, S; Marsella, L T; Novelli, G; Borgiani, P; Sangiuolo, F; Cusumano, A; Ricci, F; Giardina, E
Bone marrow and umbilical cord blood human mesenchymal stem cells: state of the art
2010 Malgieri, A; Kantzari, E; Patrizi, Mp; Gambardella, S
C9orf72-Related Neurodegenerative Diseases: From Clinical Diagnosis to Therapeutic Strategies
2022 Zampatti, Stefania; Peconi, Cristina; Campopiano, Rosa; Gambardella, Stefano; Caltagirone, Carlo; Giardina, Emiliano
ccf-mtDNA as a Potential Link Between the Brain and Immune System in Neuro-Immunological Disorders
2019 Gambardella, Stefano; Limanaqi, Fiona; Ferese, Rosangela; Biagioni, Francesca; Campopiano, Rosa; Centonze, Diego; Fornai, Francesco
Chronic pancreatitis: A case of incomplete penetrance in two carriers of CFTR and PRSS1 mutations
2007 Ciacci, S; Gambardella, S; D'Apice, Mr; Petrocchi, S; Lucidi, V; Bengala, M; Novelli, G
Circulating miR-127-3p as a Potential Biomarker for Differential Diagnosis in Frontotemporal Dementia
2018 Piscopo, Paola; Grasso, Margherita; Puopolo, Maria; D'Acunto, Emanuela; Talarico, Giuseppina; Crestini, Alessio; Gasparini, Marina; Campopiano, Rosa; Gambardella, Stefano; Castellano, Anna Elisa; Bruno, Giuseppe; Denti, Michela A; Confaloni, Annamaria
Cohort Analysis of 67 Charcot-Marie-Tooth Italian Patients: Identification of New Mutations and Broadening of Phenotype Expression Produced by Rare Variants
2021 Ferese, Rosangela; Campopiano, Rosa; Scala, Simona; D'Alessio, Carmelo; Storto, Marianna; Buttari, Fabio; Centonze, Diego; Logroscino, Giancarlo; Zecca, Chiara; Zampatti, Stefania; Fornai, Francesco; Cianci, Vittoria; Manfroi, Elisabetta; Giardina, Emiliano; Magnani, Mauro; Suppa, Antonio; Novelli, Giuseppe; Gambardella, Stefano
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 Ferese, Rosangela; Scala, Simona; Suppa, Antonio; Campopiano, Rosa; Asci, Francesco; Zampogna, Alessandro; Chiaravalloti, Maria Antonietta; Griguoli, Annamaria; Storto, Marianna; Pardo, Alba Di; Giardina, Emiliano; Zampatti, Stefania; Fornai, Francesco; Novelli, Giuseppe; Fanelli, Mirco; Zecca, Chiara; Logroscino, Giancarlo; Centonze, Diego; Gambardella, Stefano
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A fluorescence-based sequence-specific primer PCR for the screening of HLA-B*57:01 | 1-gen-2010 | Giardina, E; Stocchi, L; Cuzzola, Vf; Zampatti, S; Gambardella, S; Patrizi, Mp; Bramanti, P; Pirazzoli, A; Novelli, G | |
| A Focus on the Beneficial Effects of Alpha Synuclein and a Re-Appraisal of Synucleinopathies | 1-gen-2018 | Ryskalin, Larisa; Busceti, Carla L; Limanaqi, Fiona; Biagioni, Francesca; Gambardella, Stefano; Fornai, Francesco | |
| A Large Family with p.Arg554His Mutation in ABCD1: Clinical Features and Genotype/Phenotype Correlation in Female Carriers | 1-gen-2021 | Campopiano, Rosa; Femiano, Cinzia; Chiaravalloti, Maria Antonietta; Ferese, Rosangela; Centonze, Diego; Buttari, Fabio; Zampatti, Stefania; Fanelli, Mirco; Amatori, Stefano; D'Alessio, Carmelo; Giardina, Emiliano; Fornai, Francesco; Biagioni, Francesca; Storto, Marianna; Gambardella, Stefano | |
| A New Splicing Mutation in the L1CAM Gene Responsible for X-Linked Hydrocephalus (HSAS) | 1-gen-2016 | Ferese, R; Zampatti, S; Griguoli, Amp; Fornai, F; Giardina, E; Barrano, G; Albano, V; Campopiano, R; Scala, S; Novelli, G; Gambardella, S | |
| A Novel ATP1A2 Gene Variant Associated With Pure Sporadic Hemiplegic Migraine Improved After Patent Foramen Ovale Closure: A Case Report | 1-gen-2018 | Perrotta, Armando; Gambardella, Stefano; Ambrosini, Anna; Anastasio, Maria Grazia; Albano, Veronica; Fornai, Francesco; Pierelli, Francesco | |
| A Novel Homozygous Variant in the Fork-Head-Associated Domain of Polynucleotide Kinase Phosphatase in a Patient Affected by Late-Onset Ataxia With Oculomotor Apraxia Type 4 | 1-gen-2020 | Campopiano, Rosa; Ferese, Rosangela; Buttari, Fabio; Femiano, Cinzia; Centonze, Diego; Fornai, Francesco; Biagioni, Francesca; Chiaravalloti, Maria Antonietta; Magnani, Mauro; Giardina, Emiliano; Ruzzo, Anna; Gambardella, Stefano | |
| A novel POLR3A genotype leads to leukodystrophy type-7 in two siblings with unusually late age of onset | 1-gen-2020 | Campopiano, Rosa; Ferese, Rosangela; Zampatti, Stefania; Giardina, Emiliano; Biagioni, Francesca; Colonnese, Claudio; Centonze, Diego; Storto, Marianna; Buttari, Fabio; Fraviga, Edoardo; Broccoli, Vania; Fanelli, Mirco; Fornai, Francesco; Gambardella, Stefano | |
| A Single Nucleotide ADA Genetic Variant Is Associated to Central Inflammation and Clinical Presentation in MS: Implications for Cladribine Treatment | 1-gen-2020 | Stampanoni Bassi, Mario; Buttari, Fabio; Simonelli, Ilaria; Gilio, Luana; Furlan, Roberto; Finardi, Annamaria; Marfia, Girolama Alessandra; Visconti, Andrea; Paolillo, Andrea; Storto, Marianna; Gambardella, Stefano; Ferese, Rosangela; Salvetti, Marco; Uccelli, Antonio; Matarese, Giuseppe; Centonze, Diego; De Vito, Francesca | |
| A Splicing Variant in RDH8 Is Associated with Autosomal Recessive Stargardt Macular Dystrophy | 1-gen-2023 | Zampatti, Stefania; Peconi, Cristina; Calvino, Giulia; Ferese, Rosangela; Gambardella, Stefano; Cascella, Raffaella; Sebastiani, Jacopo; Falsini, Benedetto; Cusumano, Andrea; Giardina, Emiliano | |
| Ambiguous Effects of Autophagy Activation Following Hypoperfusion/Ischemia | 1-gen-2018 | Ferrucci, Michela; Biagioni, Francesca; Ryskalin, Larisa; Limanaqi, Fiona; Gambardella, Stefano; Frati, Alessandro; Fornai, Francesco | |
| An attempt to dissect a peripheral marker based on cell pathology in Parkinson's disease | 1-gen-2021 | Biagioni, Francesca; Ferese, Rosangela; Giorgi, Filippo Sean; Modugno, Nicola; Olivola, Enrica; Lenzi, Paola; Gambardella, Stefano; Centonze, Diego; Ruggieri, Stefano; Fornai, Francesco | |
| Analysis of ACE2 Genetic Variability among Populations Highlights a Possible Link with COVID-19-Related Neurological Complications | 1-gen-2020 | Strafella, Claudia; Caputo, Valerio; Termine, Andrea; Barati, Shila; Gambardella, Stefano; Borgiani, Paola; Caltagirone, Carlo; Novelli, Giuseppe; Giardina, Emiliano; Cascella, Raffaella | |
| Assessing individual risk for AMD with genetic counseling, family history, and genetic testing | 1-gen-2017 | Cascella, R; Strafella, C; Longo, G; Manzo, L; Ragazzo, M; De Felici, C; Gambardella, S; Marsella, L T; Novelli, G; Borgiani, P; Sangiuolo, F; Cusumano, A; Ricci, F; Giardina, E | |
| Bone marrow and umbilical cord blood human mesenchymal stem cells: state of the art | 1-gen-2010 | Malgieri, A; Kantzari, E; Patrizi, Mp; Gambardella, S | |
| C9orf72-Related Neurodegenerative Diseases: From Clinical Diagnosis to Therapeutic Strategies | 1-gen-2022 | Zampatti, Stefania; Peconi, Cristina; Campopiano, Rosa; Gambardella, Stefano; Caltagirone, Carlo; Giardina, Emiliano | |
| ccf-mtDNA as a Potential Link Between the Brain and Immune System in Neuro-Immunological Disorders | 1-gen-2019 | Gambardella, Stefano; Limanaqi, Fiona; Ferese, Rosangela; Biagioni, Francesca; Campopiano, Rosa; Centonze, Diego; Fornai, Francesco | |
| Chronic pancreatitis: A case of incomplete penetrance in two carriers of CFTR and PRSS1 mutations | 1-gen-2007 | Ciacci, S; Gambardella, S; D'Apice, Mr; Petrocchi, S; Lucidi, V; Bengala, M; Novelli, G | |
| Circulating miR-127-3p as a Potential Biomarker for Differential Diagnosis in Frontotemporal Dementia | 1-gen-2018 | Piscopo, Paola; Grasso, Margherita; Puopolo, Maria; D'Acunto, Emanuela; Talarico, Giuseppina; Crestini, Alessio; Gasparini, Marina; Campopiano, Rosa; Gambardella, Stefano; Castellano, Anna Elisa; Bruno, Giuseppe; Denti, Michela A; Confaloni, Annamaria | |
| Cohort Analysis of 67 Charcot-Marie-Tooth Italian Patients: Identification of New Mutations and Broadening of Phenotype Expression Produced by Rare Variants | 1-gen-2021 | Ferese, Rosangela; Campopiano, Rosa; Scala, Simona; D'Alessio, Carmelo; Storto, Marianna; Buttari, Fabio; Centonze, Diego; Logroscino, Giancarlo; Zecca, Chiara; Zampatti, Stefania; Fornai, Francesco; Cianci, Vittoria; Manfroi, Elisabetta; Giardina, Emiliano; Magnani, Mauro; Suppa, Antonio; Novelli, Giuseppe; Gambardella, Stefano | |
| 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 | 1-gen-2023 | Ferese, Rosangela; Scala, Simona; Suppa, Antonio; Campopiano, Rosa; Asci, Francesco; Zampogna, Alessandro; Chiaravalloti, Maria Antonietta; Griguoli, Annamaria; Storto, Marianna; Pardo, Alba Di; Giardina, Emiliano; Zampatti, Stefania; Fornai, Francesco; Novelli, Giuseppe; Fanelli, Mirco; Zecca, Chiara; Logroscino, Giancarlo; Centonze, Diego; Gambardella, Stefano |