GIARDINA, EMILIANO
GIARDINA, EMILIANO
Dipartimento di Scienze Biomolecolari (DISB)
A Large Family with p.Arg554His Mutation in ABCD1: Clinical Features and Genotype/Phenotype Correlation in Female Carriers
2021-01-01 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 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
2020-01-01 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
2020-01-01 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
Analysis of ACE2 Genetic Variability among Populations Highlights a Possible Link with COVID-19-Related Neurological Complications
2020-01-01 Strafella, Claudia; Caputo, Valerio; Termine, Andrea; Barati, Shila; Gambardella, Stefano; Borgiani, Paola; Caltagirone, Carlo; Novelli, Giuseppe; Giardina, Emiliano; Cascella, Raffaella
Cohort Analysis of 67 Charcot-Marie-Tooth Italian Patients: Identification of New Mutations and Broadening of Phenotype Expression Produced by Rare Variants
2021-01-01 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
Erratum to "Mitochondrial Serine Protease HTRA2 p.G399S in a Female with Di George Syndrome and Parkinson's Disease"
2018-01-01 Gambardella, Stefano; Ferese, Rosangela; Scala, Simona; Carboni, Stefania; Biagioni, Francesca; Giardina, Emiliano; Zampatti, Stefania; Modugno, Nicola; Fabbiano, Francesco; Fornai, Francesco; Centonze, Diego; Ruggieri, Stefano
Facioscapulohumeral muscular dystrophy (FSHD) molecular diagnosis: from traditional technology to the NGS era
2019-01-01 Zampatti, Stefania; Colantoni, Luca; Strafella, Claudia; Galota, Rosaria Maria; Caputo, Valerio; Campoli, Giulia; Pagliaroli, Giulia; Carboni, Stefania; Mela, Julia; Peconi, Cristina; Gambardella, Stefano; Cascella, Raffaella; Giardina, Emiliano
Genetic Counselling Improves the Molecular Characterisation of Dementing Disorders
2021-01-01 Zampatti, Stefania; Ragazzo, Michele; Peconi, Cristina; Luciano, Serena; Gambardella, Stefano; Caputo, Valerio; Strafella, Claudia; Cascella, Raffaella; Caltagirone, Carlo; Giardina, Emiliano
Heterozygous PLA2G6 Mutation Leads to Iron Accumulation Within Basal Ganglia and Parkinson's Disease
2018-01-01 Ferese, Rosangela; Scala, Simona; Biagioni, Francesca; Giardina, Emiliano; Zampatti, Stefania; Modugno, Nicola; Colonnese, Claudio; Storto, Marianna; Fornai, Francesco; Novelli, Giuseppe; Ruggieri, Stefano; Gambardella, Stefano
Immune System and Neuroinflammation in Idiopathic Parkinson's Disease: Association Analysis of Genetic Variants and miRNAs Interactions
2021-01-01 Strafella, Claudia; Caputo, Valerio; Termine, Andrea; Assogna, Francesca; Pellicano, Clelia; Pontieri, Francesco E; Macchiusi, Lucia; Minozzi, Giulietta; Gambardella, Stefano; Centonze, Diego; Bossù, Paola; Spalletta, Gianfranco; Caltagirone, Carlo; Giardina, Emiliano; Cascella, Raffaella
Migrainous Infarction in a Patient With Sporadic Hemiplegic Migraine and Cystic Fibrosis: A 99mTc-HMPAO Brain SPECT Study
2019-01-01 Mancini, Valentina; Mastria, Giulio; Frantellizzi, Viviana; Troiani, Patrizia; Zampatti, Stefania; Carboni, Stefania; Giardina, Emiliano; Campopiano, Rosa; Gambardella, Stefano; Turchi, Federica; Petolicchio, Barbara; Toscano, Massimiliano; Liberatore, Mauro; Viganò, Alessandro; Di Piero, Vittorio
Mitochondrial Serine Protease HTRA2 p.G399S in a Female with Di George Syndrome and Parkinson's Disease
2018-01-01 Gambardella, Stefano; Ferese, Rosangela; Scala, Simona; Carboni, Stefania; Biagioni, Francesca; Giardina, Emiliano; Zampatti, Stefania; Modugno, Nicola; Fabbiano, Francesco; Fornai, Francesco; Centonze, Diego; Ruggieri, Stefano
Next Generation Sequencing and ALS: known genes, different phenotyphes
2017-01-01 Campopiano, Rosa; Ryskalin, Larisa; Giardina, Emiliano; Zampatti, Stefania; Busceti, Carla L; Biagioni, Francesca; Ferese, Rosangela; Storto, Marianna; Gambardella, Stefano; Fornai, Francesco
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, Rosangela; Albano, Veronica; Falconi, Mattia; Iacovelli, Federico; Campopiano, Rosa; Scala, Simona; Griguoli, Anna Maria; Gaglione, Anderson; Giardina, Emiliano; Zampatti, Stefania; Storto, Marianna; Fornai, Francesco; D'Alessio, Carmelo; Novelli, Giuseppe; Gambardella, Stefano
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| 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 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 | |
| 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 | |
| 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 | |
| Erratum to "Mitochondrial Serine Protease HTRA2 p.G399S in a Female with Di George Syndrome and Parkinson's Disease" | 1-gen-2018 | Gambardella, Stefano; Ferese, Rosangela; Scala, Simona; Carboni, Stefania; Biagioni, Francesca; Giardina, Emiliano; Zampatti, Stefania; Modugno, Nicola; Fabbiano, Francesco; Fornai, Francesco; Centonze, Diego; Ruggieri, Stefano | |
| Facioscapulohumeral muscular dystrophy (FSHD) molecular diagnosis: from traditional technology to the NGS era | 1-gen-2019 | Zampatti, Stefania; Colantoni, Luca; Strafella, Claudia; Galota, Rosaria Maria; Caputo, Valerio; Campoli, Giulia; Pagliaroli, Giulia; Carboni, Stefania; Mela, Julia; Peconi, Cristina; Gambardella, Stefano; Cascella, Raffaella; Giardina, Emiliano | |
| Genetic Counselling Improves the Molecular Characterisation of Dementing Disorders | 1-gen-2021 | Zampatti, Stefania; Ragazzo, Michele; Peconi, Cristina; Luciano, Serena; Gambardella, Stefano; Caputo, Valerio; Strafella, Claudia; Cascella, Raffaella; Caltagirone, Carlo; Giardina, Emiliano | |
| Heterozygous PLA2G6 Mutation Leads to Iron Accumulation Within Basal Ganglia and Parkinson's Disease | 1-gen-2018 | Ferese, Rosangela; Scala, Simona; Biagioni, Francesca; Giardina, Emiliano; Zampatti, Stefania; Modugno, Nicola; Colonnese, Claudio; Storto, Marianna; Fornai, Francesco; Novelli, Giuseppe; Ruggieri, Stefano; Gambardella, Stefano | |
| Immune System and Neuroinflammation in Idiopathic Parkinson's Disease: Association Analysis of Genetic Variants and miRNAs Interactions | 1-gen-2021 | Strafella, Claudia; Caputo, Valerio; Termine, Andrea; Assogna, Francesca; Pellicano, Clelia; Pontieri, Francesco E; Macchiusi, Lucia; Minozzi, Giulietta; Gambardella, Stefano; Centonze, Diego; Bossù, Paola; Spalletta, Gianfranco; Caltagirone, Carlo; Giardina, Emiliano; Cascella, Raffaella | |
| Migrainous Infarction in a Patient With Sporadic Hemiplegic Migraine and Cystic Fibrosis: A 99mTc-HMPAO Brain SPECT Study | 1-gen-2019 | Mancini, Valentina; Mastria, Giulio; Frantellizzi, Viviana; Troiani, Patrizia; Zampatti, Stefania; Carboni, Stefania; Giardina, Emiliano; Campopiano, Rosa; Gambardella, Stefano; Turchi, Federica; Petolicchio, Barbara; Toscano, Massimiliano; Liberatore, Mauro; Viganò, Alessandro; Di Piero, Vittorio | |
| Mitochondrial Serine Protease HTRA2 p.G399S in a Female with Di George Syndrome and Parkinson's Disease | 1-gen-2018 | Gambardella, Stefano; Ferese, Rosangela; Scala, Simona; Carboni, Stefania; Biagioni, Francesca; Giardina, Emiliano; Zampatti, Stefania; Modugno, Nicola; Fabbiano, Francesco; Fornai, Francesco; Centonze, Diego; Ruggieri, Stefano | |
| Next Generation Sequencing and ALS: known genes, different phenotyphes | 1-gen-2017 | Campopiano, Rosa; Ryskalin, Larisa; Giardina, Emiliano; Zampatti, Stefania; Busceti, Carla L; Biagioni, Francesca; Ferese, Rosangela; Storto, Marianna; Gambardella, Stefano; Fornai, Francesco | |
| Structural modeling of altered CLCN1 conformation following a novel mutation in a patient affected by autosomal dominant myotonia congenita (Thomsen disease) | 1-gen-2017 | Ferese, Rosangela; Albano, Veronica; Falconi, Mattia; Iacovelli, Federico; Campopiano, Rosa; Scala, Simona; Griguoli, Anna Maria; Gaglione, Anderson; Giardina, Emiliano; Zampatti, Stefania; Storto, Marianna; Fornai, Francesco; D'Alessio, Carmelo; Novelli, Giuseppe; Gambardella, Stefano |