Sfoglia per Autore
Decipher non-canonical SPAST splicing mutations with the help of functional assays in patients affected by spastic paraplegia 4 (SPG4)
2022-01-01 Ferese, Rosangela; Scala, Simona; Suppa, Antonio; Campopiano, Rosa; Asci, Francesco; Chiaravalloti, Maria Antonietta; Zampogna, Alessandro; D'Alessio, Carmelo; Fittipaldi, Filomena; Buttari, Fabio; Di Pardo, Alba; Giardina, Emiliano; Zampatti, Stefania; Fornai, Francesco; Novelli, Giuseppe; Fanelli, Mirco; Zecca, Chiara; Logroscino, Giancarlo; Centonze, Diego; Gambardella, Stefano
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
The dark side of histones: genomic organization and role of oncohistones in cancer
2021-01-01 Amatori, Stefano; Tavolaro, Simona; Gambardella, Stefano; Fanelli, Mirco
Identification of sixteen novel candidate genes for late onset Parkinson's disease
2021-01-01 Gialluisi, Alessandro; Reccia, Mafalda Giovanna; Modugno, Nicola; Nutile, Teresa; Lombardi, Alessia; Di Giovannantonio, Luca Giovanni; Pietracupa, Sara; Ruggiero, Daniela; Scala, Simona; Gambardella, Stefano; Iacoviello, Licia; Gianfrancesco, Fernando; Acampora, Dario; D'Esposito, Maurizio; Simeone, Antonio; Ciullo, Marina; Esposito, Teresa
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
Rapamycin Ameliorates Defects in Mitochondrial Fission and Mitophagy in Glioblastoma Cells
2021-01-01 Lenzi, Paola; Ferese, Rosangela; Biagioni, Francesca; Fulceri, Federica; Busceti, Carla L; Falleni, Alessandra; Gambardella, Stefano; Frati, Alessandro; Fornai, Francesco
Improving clinical interpretation of five KRIT1 and PDCD10 intronic variants
2021-01-01 Fusco, Carmela; Nardella, Grazia; Petracca, Antonio; Ronchi, Dario; Paciello, Nicola; Di Giacomo, Marilena; Gambardella, Stefano; Lanfranconi, Silvia; Zampatti, Stefania; D'Agruma, Leonardo; Micale, Lucia; Castori, Marco
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
An attempt to dissect a peripheral marker based on cell pathology in Parkinson's disease
2021-01-01 Biagioni, Francesca; Ferese, Rosangela; Giorgi, Filippo Sean; Modugno, Nicola; Olivola, Enrica; Lenzi, Paola; Gambardella, Stefano; Centonze, Diego; Ruggieri, Stefano; Fornai, Francesco
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
Dissecting Molecular Features of Gliomas: Genetic Loci and Validated Biomarkers
2020-01-01 Arcella, Antonietta; Limanaqi, Fiona; Ferese, Rosangela; Biagioni, Francesca; Oliva, Maria Antonietta; Storto, Marianna; Fanelli, Mirco; Gambardella, Stefano; Fornai, Francesco
Quantitative Ultrastructural Morphometry and Gene Expression of mTOR-Related Mitochondriogenesis within Glioblastoma Cells
2020-01-01 Ferese, Rosangela; Lenzi, Paola; Fulceri, Federica; Biagioni, Francesca; Fabrizi, Cinzia; Gambardella, Stefano; Familiari, Pietro; Frati, Alessandro; Limanaqi, Fiona; Fornai, 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
2020-01-01 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
Promiscuous Roles of Autophagy and Proteasome in Neurodegenerative Proteinopathies
2020-01-01 Limanaqi, Fiona; Biagioni, Francesca; Gambardella, Stefano; Familiari, Pietro; Frati, Alessandro; Fornai, Francesco
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
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
Corticosterone Upregulates Gene and Protein Expression of Catecholamine Markers in Organotypic Brainstem Cultures
2019-01-01 Busceti, Carla L; Ferese, Rosangela; Bucci, Domenico; Ryskalin, Larisa; Gambardella, Stefano; Madonna, Michele; Nicoletti, Ferdinando; Fornai, Francesco
ccf-mtDNA as a Potential Link Between the Brain and Immune System in Neuro-Immunological Disorders
2019-01-01 Gambardella, Stefano; Limanaqi, Fiona; Ferese, Rosangela; Biagioni, Francesca; Campopiano, Rosa; Centonze, Diego; Fornai, Francesco
Unusual Segregation of APP Mutations in Monogenic Alzheimer Disease
2019-01-01 Mastromoro, Gioia; Gambardella, Stefano; Marchionni, Enrica; Campopiano, Rosa; Traversa, Alice; Di Bonaventura, Carlo; Pizzuti, Antonio
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
Titolo | Data di pubblicazione | Autore(i) | File |
---|---|---|---|
Decipher non-canonical SPAST splicing mutations with the help of functional assays in patients affected by spastic paraplegia 4 (SPG4) | 1-gen-2022 | Ferese, Rosangela; Scala, Simona; Suppa, Antonio; Campopiano, Rosa; Asci, Francesco; Chiaravalloti, Maria Antonietta; Zampogna, Alessandro; D'Alessio, Carmelo; Fittipaldi, Filomena; Buttari, Fabio; Di Pardo, Alba; Giardina, Emiliano; Zampatti, Stefania; Fornai, Francesco; Novelli, Giuseppe; Fanelli, Mirco; Zecca, Chiara; Logroscino, Giancarlo; Centonze, Diego; Gambardella, Stefano | |
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 | |
The dark side of histones: genomic organization and role of oncohistones in cancer | 1-gen-2021 | Amatori, Stefano; Tavolaro, Simona; Gambardella, Stefano; Fanelli, Mirco | |
Identification of sixteen novel candidate genes for late onset Parkinson's disease | 1-gen-2021 | Gialluisi, Alessandro; Reccia, Mafalda Giovanna; Modugno, Nicola; Nutile, Teresa; Lombardi, Alessia; Di Giovannantonio, Luca Giovanni; Pietracupa, Sara; Ruggiero, Daniela; Scala, Simona; Gambardella, Stefano; Iacoviello, Licia; Gianfrancesco, Fernando; Acampora, Dario; D'Esposito, Maurizio; Simeone, Antonio; Ciullo, Marina; Esposito, Teresa | |
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 | |
Rapamycin Ameliorates Defects in Mitochondrial Fission and Mitophagy in Glioblastoma Cells | 1-gen-2021 | Lenzi, Paola; Ferese, Rosangela; Biagioni, Francesca; Fulceri, Federica; Busceti, Carla L; Falleni, Alessandra; Gambardella, Stefano; Frati, Alessandro; Fornai, Francesco | |
Improving clinical interpretation of five KRIT1 and PDCD10 intronic variants | 1-gen-2021 | Fusco, Carmela; Nardella, Grazia; Petracca, Antonio; Ronchi, Dario; Paciello, Nicola; Di Giacomo, Marilena; Gambardella, Stefano; Lanfranconi, Silvia; Zampatti, Stefania; D'Agruma, Leonardo; Micale, Lucia; Castori, Marco | |
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 | |
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 | |
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 | |
Dissecting Molecular Features of Gliomas: Genetic Loci and Validated Biomarkers | 1-gen-2020 | Arcella, Antonietta; Limanaqi, Fiona; Ferese, Rosangela; Biagioni, Francesca; Oliva, Maria Antonietta; Storto, Marianna; Fanelli, Mirco; Gambardella, Stefano; Fornai, Francesco | |
Quantitative Ultrastructural Morphometry and Gene Expression of mTOR-Related Mitochondriogenesis within Glioblastoma Cells | 1-gen-2020 | Ferese, Rosangela; Lenzi, Paola; Fulceri, Federica; Biagioni, Francesca; Fabrizi, Cinzia; Gambardella, Stefano; Familiari, Pietro; Frati, Alessandro; Limanaqi, Fiona; Fornai, 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 | |
Promiscuous Roles of Autophagy and Proteasome in Neurodegenerative Proteinopathies | 1-gen-2020 | Limanaqi, Fiona; Biagioni, Francesca; Gambardella, Stefano; Familiari, Pietro; Frati, Alessandro; 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 | |
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 | |
Corticosterone Upregulates Gene and Protein Expression of Catecholamine Markers in Organotypic Brainstem Cultures | 1-gen-2019 | Busceti, Carla L; Ferese, Rosangela; Bucci, Domenico; Ryskalin, Larisa; Gambardella, Stefano; Madonna, Michele; Nicoletti, Ferdinando; Fornai, Francesco | |
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 | |
Unusual Segregation of APP Mutations in Monogenic Alzheimer Disease | 1-gen-2019 | Mastromoro, Gioia; Gambardella, Stefano; Marchionni, Enrica; Campopiano, Rosa; Traversa, Alice; Di Bonaventura, Carlo; Pizzuti, Antonio | |
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 |
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