GAMBARDELLA, STEFANO

GAMBARDELLA, STEFANO  

Dipartimento di Scienze Biomolecolari (DISB)  

Mostra records
Risultati 1 - 20 di 92 (tempo di esecuzione: 0.028 secondi).
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