ESPOSITO, TERESA
ESPOSITO, TERESA
Istituto di genetica e biofisica "Adriano Buzzati Traverso"- IGB - Sede Napoli
Common and Rare Variants in TMEM175 Gene Concur to the Pathogenesis of Parkinson's Disease in Italian Patients
2023 Nicole Piera Palomba ; Giorgio Fortunato ; Giuseppe Pepe ; Nicola Modugno ; Sara Pietracupa ; Immacolata Damiano ; Giada Mascio ; Federica Carrillo ; Luca Giovanni Di Giovannantonio ; Laura Ianiro ; Katiuscia Martinello ; Viola Volpato ; Vincenzo Desiato ; Riccardo Acri ; Marianna Storto ; Ferdinando Nicoletti ; Caleb Webber ; Antonio Simeone ; Sergio Fucile ; Vittorio Maglione ; Teresa Esposito
Role of Uncoupling Protein 2 Gene Polymorphisms on the Risk of Ischemic Stroke in a Sardinian Population.
2022 Rosita Stanzione ;Maria Cotugno ;Maurizio Forte ;Franca Bianchi ;Simona Marchitti ;Nicole Piera Palomba ;Teresa Esposito ;Bastianina Zanda ;Alessandra Sanna ;Speranza Rubattu
Analysis of Genetic and Non-genetic Predictors of Levodopa Induced Dyskinesia in Parkinson's Disease
2021 Tirozzi A.; Modugno N.; Palomba N.P.; Ferese R.; Lombardi A.; Olivola E.; Gialluisi A.; Esposito T.
Exome-wide association study of levodopa-induced dyskinesia in Parkinson's disease
2021 Konig E.; Nicoletti A.; Pattaro C.; Annesi G.; Melotti R.; Gialluisi A.; Schwienbacher C.; Picard A.; Blankenburg H.; Pichler I.; Modugno N.; Ciullo M.; Esposito T.; Domingues F.S.; Hicks A.A.; Zappia M.; Pramstaller P.P.
Identification of sixteen novel candidate genes for late onset Parkinson's disease
2021 Gialluisi A.; Reccia M.G.; Modugno N.; Nutile T.; Lombardi A.; Di Giovannantonio L.G.; Pietracupa S.; Ruggiero D.; Scala S.; Gambardella S.; Iacoviello L.; Gianfrancesco F.; Acampora D.; D'Esposito M.; Simeone A.; Ciullo M.; Esposito T.
Novel autophagic vacuolar myopathies: Phenotype and genotype features
2021 Napolitano, F; Terracciano, C; Bruno, G; De Blasiis, P; Lombardi, L; Gialluisi, A; Gianfrancesco, F; De Giovanni, D; Tummolo, A; Di Iorio, G; Limongelli, G; Esposito, T; Anna Beatrice Melone, M; Sampaolo, S
Rare variants in autophagy and non-autophagy genes in late-onset pompe disease: Suggestions of their disease-modifying role in two Italian families
2021 Napolitano F.; Bruno G.; Terracciano C.; Franzese G.; Palomba N.P.; Scotto Di Carlo F.; Signoriello E.; De Blasiis P.; Navarro S.; Gialluisi A.; Melone M.A.B.; Sampaolo S.; Esposito T.
The Loss of Profilin 1 Causes Early Onset Paget's Disease of Bone
2020 Scotto di Carlo F.; Pazzaglia L.; Esposito T.; Gianfrancesco F.
Whole Exome Sequencing Study of Parkinson Disease and Related Endophenotypes in the Italian Population
2020 Gialluisi, A; Reccia, Mg; Tirozzi, A; Nutile, T; Lombardi, A; De Sanctis, C; Varanese, S; Pietracupa, S; Modugno, N; Simeone, A; Ciullo, M; Esposito, T
ZNF687 Mutations in an Extended Cohort of Neoplastic Transformations in Paget's Disease of Bone: Implications for Clinical Pathology
2020 Scotto di Carlo, F; Pazzaglia, L; Mumm, S; Benassi, Ms; De Chiara, A; Franchi, A; Parafioriti, A; Righi, A; Esposito, T; Whyte, Mp; Gianfrancesco, F
Early posterior vitreous detachment is associated with LAMA5 dominant mutation
2019 Napolitano, Filomena; Di Iorio, Valentina; Di Iorio, Giuseppe; Melone Mariarosa Anna, Beatrice; Gianfrancesco, Fernando; Simonelli, Francesca; Esposito, Teresa; Testa, Francesco; Sampaolo, Simone
Intrafamilial "DOA-plus" phenotype variability related to different OMI/HTRA2 expression.
2019 Napolitano, F; Terracciano, C; Bruno, G; Nesti, C; Barillari, Mr; Barillari, U; Santorelli, Fm; Melone, Mab; Esposito, T; Sampaolo, S
Autosomal dominant myopia associated to a novel P4HA2 missense variant and defective collagen hydroxylation.
2018 Napolitano, F; Di Iorio, V; Testa, F; Tirozzi, A; Reccia, M G; Lombardi, L; Farina, O; Simonelli, F; Gianfrancesco, F; Di Iorio, G; Melone, M A B; Esposito, T; Sampaolo, S
Successful long-term therapy with flecainide in a family with paramyotonia congenita
2018 Terracciano, C; Farina, O; Esposito, T; Lombardi, L; Napolitano, F; Blasiis, Pd; Ciccone, G; Todisco, V; Tuccillo, F; Bernardini, S; Di Iorio, G; Melone, Mab; Sampaolo, S
The identification of H3F3A mutation in giant cell tumour of the clivus and the histological diagnostic algorithm of other clival lesions permit the differential diagnosis in this location
2018 Scotto di Carlo, F; Divisato, G; Iacoangeli, M; Esposito, T; Gianfrancesco, F
Vacuolated PAS-positive lymphocytes as an hallmark of Pompe disease and other myopathies related to impaired autophagy
2018 Pascarella A.; Terracciano C.; Farina O.; Lombardi L.; Esposito T.; Napolitano F.; Franzese G.; Panella G.; Tuccillo F.; la Marca G.; Bernardini S.; Boffo S.; Giordano A.; Di Iorio G.; Melone M.A.B.; Sampaolo S.
ZNF687 mutations are frequently found in pagetic patients from South Italy: implication in the pathogenesis of Paget's disease of bone.
2018 Divisato, G; di Carlo, Fs; Petrillo, N; Esposito, T; Gianfrancesco, F
Dysregulation of the Expression of Asparagine-Linked Glycosylation 13 Short Isoform 2 Affects Nephrin Function by Altering Its N-Linked Glycosylation.
2017 Esposito, Teresa; De Stefano, Giovanni; Reccia Mafalda, Giovanna; Di Lorenzo, Ilaria; Napolitano, Filomena; Scalabri, Francesco; Lombardi, Alessia; Saleem Moin, A; Griffiths Lyn, R; Gianfrancesco, Fernando
First study on the peptidergic innervation of the brain superior sagittal sinus in humans.
2017 Sampaolo, Simone; Liguori, Giovanna; Vittoria, Alfredo; Napolitano, Filomena; Lombardi, Luca; Figols, Javier; Melone Mariarosa Anna, Beatrice; Esposito, Teresa; Di Iorio, Giuseppe
Identification of the first dominant mutation of LAMA5 gene causing a complex multisystem syndrome due to dysfunction of the extracellular matrix.
2017 Sampaolo, Simone; Napolitano, Filomena; Tirozzi, Alfonsina; Reccia Mafalda, Giovanna; Lombardi, Luca; Farina, Olimpia; Barra, Adriano; Cirillo, Ferdinando; Melone Mariarosa Anna, Beatrice; Gianfrancesco, Fernando; Iorio Giuseppe, Di; Esposito, Teresa
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Common and Rare Variants in TMEM175 Gene Concur to the Pathogenesis of Parkinson's Disease in Italian Patients | 1-gen-2023 | Nicole Piera Palomba ; Giorgio Fortunato ; Giuseppe Pepe ; Nicola Modugno ; Sara Pietracupa ; Immacolata Damiano ; Giada Mascio ; Federica Carrillo ; Luca Giovanni Di Giovannantonio ; Laura Ianiro ; Katiuscia Martinello ; Viola Volpato ; Vincenzo Desiato ; Riccardo Acri ; Marianna Storto ; Ferdinando Nicoletti ; Caleb Webber ; Antonio Simeone ; Sergio Fucile ; Vittorio Maglione ; Teresa Esposito | |
| Role of Uncoupling Protein 2 Gene Polymorphisms on the Risk of Ischemic Stroke in a Sardinian Population. | 1-gen-2022 | Rosita Stanzione ;Maria Cotugno ;Maurizio Forte ;Franca Bianchi ;Simona Marchitti ;Nicole Piera Palomba ;Teresa Esposito ;Bastianina Zanda ;Alessandra Sanna ;Speranza Rubattu | |
| Analysis of Genetic and Non-genetic Predictors of Levodopa Induced Dyskinesia in Parkinson's Disease | 1-gen-2021 | Tirozzi A.; Modugno N.; Palomba N.P.; Ferese R.; Lombardi A.; Olivola E.; Gialluisi A.; Esposito T. | |
| Exome-wide association study of levodopa-induced dyskinesia in Parkinson's disease | 1-gen-2021 | Konig E.; Nicoletti A.; Pattaro C.; Annesi G.; Melotti R.; Gialluisi A.; Schwienbacher C.; Picard A.; Blankenburg H.; Pichler I.; Modugno N.; Ciullo M.; Esposito T.; Domingues F.S.; Hicks A.A.; Zappia M.; Pramstaller P.P. | |
| Identification of sixteen novel candidate genes for late onset Parkinson's disease | 1-gen-2021 | Gialluisi A.; Reccia M.G.; Modugno N.; Nutile T.; Lombardi A.; Di Giovannantonio L.G.; Pietracupa S.; Ruggiero D.; Scala S.; Gambardella S.; Iacoviello L.; Gianfrancesco F.; Acampora D.; D'Esposito M.; Simeone A.; Ciullo M.; Esposito T. | |
| Novel autophagic vacuolar myopathies: Phenotype and genotype features | 1-gen-2021 | Napolitano, F; Terracciano, C; Bruno, G; De Blasiis, P; Lombardi, L; Gialluisi, A; Gianfrancesco, F; De Giovanni, D; Tummolo, A; Di Iorio, G; Limongelli, G; Esposito, T; Anna Beatrice Melone, M; Sampaolo, S | |
| Rare variants in autophagy and non-autophagy genes in late-onset pompe disease: Suggestions of their disease-modifying role in two Italian families | 1-gen-2021 | Napolitano F.; Bruno G.; Terracciano C.; Franzese G.; Palomba N.P.; Scotto Di Carlo F.; Signoriello E.; De Blasiis P.; Navarro S.; Gialluisi A.; Melone M.A.B.; Sampaolo S.; Esposito T. | |
| The Loss of Profilin 1 Causes Early Onset Paget's Disease of Bone | 1-gen-2020 | Scotto di Carlo F.; Pazzaglia L.; Esposito T.; Gianfrancesco F. | |
| Whole Exome Sequencing Study of Parkinson Disease and Related Endophenotypes in the Italian Population | 1-gen-2020 | Gialluisi, A; Reccia, Mg; Tirozzi, A; Nutile, T; Lombardi, A; De Sanctis, C; Varanese, S; Pietracupa, S; Modugno, N; Simeone, A; Ciullo, M; Esposito, T | |
| ZNF687 Mutations in an Extended Cohort of Neoplastic Transformations in Paget's Disease of Bone: Implications for Clinical Pathology | 1-gen-2020 | Scotto di Carlo, F; Pazzaglia, L; Mumm, S; Benassi, Ms; De Chiara, A; Franchi, A; Parafioriti, A; Righi, A; Esposito, T; Whyte, Mp; Gianfrancesco, F | |
| Early posterior vitreous detachment is associated with LAMA5 dominant mutation | 1-gen-2019 | Napolitano, Filomena; Di Iorio, Valentina; Di Iorio, Giuseppe; Melone Mariarosa Anna, Beatrice; Gianfrancesco, Fernando; Simonelli, Francesca; Esposito, Teresa; Testa, Francesco; Sampaolo, Simone | |
| Intrafamilial "DOA-plus" phenotype variability related to different OMI/HTRA2 expression. | 1-gen-2019 | Napolitano, F; Terracciano, C; Bruno, G; Nesti, C; Barillari, Mr; Barillari, U; Santorelli, Fm; Melone, Mab; Esposito, T; Sampaolo, S | |
| Autosomal dominant myopia associated to a novel P4HA2 missense variant and defective collagen hydroxylation. | 1-gen-2018 | Napolitano, F; Di Iorio, V; Testa, F; Tirozzi, A; Reccia, M G; Lombardi, L; Farina, O; Simonelli, F; Gianfrancesco, F; Di Iorio, G; Melone, M A B; Esposito, T; Sampaolo, S | |
| Successful long-term therapy with flecainide in a family with paramyotonia congenita | 1-gen-2018 | Terracciano, C; Farina, O; Esposito, T; Lombardi, L; Napolitano, F; Blasiis, Pd; Ciccone, G; Todisco, V; Tuccillo, F; Bernardini, S; Di Iorio, G; Melone, Mab; Sampaolo, S | |
| The identification of H3F3A mutation in giant cell tumour of the clivus and the histological diagnostic algorithm of other clival lesions permit the differential diagnosis in this location | 1-gen-2018 | Scotto di Carlo, F; Divisato, G; Iacoangeli, M; Esposito, T; Gianfrancesco, F | |
| Vacuolated PAS-positive lymphocytes as an hallmark of Pompe disease and other myopathies related to impaired autophagy | 1-gen-2018 | Pascarella A.; Terracciano C.; Farina O.; Lombardi L.; Esposito T.; Napolitano F.; Franzese G.; Panella G.; Tuccillo F.; la Marca G.; Bernardini S.; Boffo S.; Giordano A.; Di Iorio G.; Melone M.A.B.; Sampaolo S. | |
| ZNF687 mutations are frequently found in pagetic patients from South Italy: implication in the pathogenesis of Paget's disease of bone. | 1-gen-2018 | Divisato, G; di Carlo, Fs; Petrillo, N; Esposito, T; Gianfrancesco, F | |
| Dysregulation of the Expression of Asparagine-Linked Glycosylation 13 Short Isoform 2 Affects Nephrin Function by Altering Its N-Linked Glycosylation. | 1-gen-2017 | Esposito, Teresa; De Stefano, Giovanni; Reccia Mafalda, Giovanna; Di Lorenzo, Ilaria; Napolitano, Filomena; Scalabri, Francesco; Lombardi, Alessia; Saleem Moin, A; Griffiths Lyn, R; Gianfrancesco, Fernando | |
| First study on the peptidergic innervation of the brain superior sagittal sinus in humans. | 1-gen-2017 | Sampaolo, Simone; Liguori, Giovanna; Vittoria, Alfredo; Napolitano, Filomena; Lombardi, Luca; Figols, Javier; Melone Mariarosa Anna, Beatrice; Esposito, Teresa; Di Iorio, Giuseppe | |
| Identification of the first dominant mutation of LAMA5 gene causing a complex multisystem syndrome due to dysfunction of the extracellular matrix. | 1-gen-2017 | Sampaolo, Simone; Napolitano, Filomena; Tirozzi, Alfonsina; Reccia Mafalda, Giovanna; Lombardi, Luca; Farina, Olimpia; Barra, Adriano; Cirillo, Ferdinando; Melone Mariarosa Anna, Beatrice; Gianfrancesco, Fernando; Iorio Giuseppe, Di; Esposito, Teresa |