DI ROSA, Gabriella
DI ROSA, Gabriella
Dipartimento di Scienze biomediche, odontoiatriche e delle immagini morfologiche e funzionali
8q22.1 Microduplication Syndrome: Why the Brain Should Be Spared? A Literature Review and a Case Report
2018-01-01 Gagliano, A; Pironti, E; Cucinotta, F; Galati, C; Maggio, R; Alquino, Ma; Di Rosa, G
A de novo 0.63 Mb 6q25.1 deletion associated with growth failure, congenital heart defect, underdeveloped cerebellar vermis, abnormal cutaneous elasticity and joint laxity.
2015-01-01 Salpietro Damiano, Vincenzo; Ruggieri, Marianna; Mankad, K; Di Rosa, Gabriella; Granata, Francesca; Loddo, Italia; Moschella, Emanuela; Calabro', Maria Pia; Capalbo, A; Bernardini, L; Novelli, A; Polizzi, A; Seidler, Dg; Arrigo, Teresa; Briuglia, Silvana
A de novo truncating mutation in ASXL1 associated with segmental overgrowth
2019-01-01 Efthymiou, S; Salpietro, V; Pironti, E; Bonsignore, M; Ferrazzoli, V; Di Rosa, G; Houlden, H
A Focus on the Cerebellum: From Embryogenesis to an Age-Related Clinical Perspective
2021-01-01 Amore, G.; Spoto, G.; Ieni, A.; Vetri, L.; Quatrosi, G.; Di Rosa, G.; Nicotera, A. G.
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease
2022-01-01 Calì, Elisa; Lin, Sheng-Jia; Rocca, Clarissa; Sahin, Yavuz; Al Shamsi, Aisha; El Chehadeh, Salima; Chaabouni, Myriam; Mankad, Kshitij; Galanaki, Evangelia; Efthymiou, Stephanie; Sudhakar, Sniya; Athanasiou-Fragkouli, Alkyoni; Çelik, Tamer; Narlı, Nejat; Bianca, Sebastiano; Murphy, David; De Carvalho Moreira, Francisco Martins; Hannah, Michael G.; Bugiardini, Enrico; Kriouile, Yamna; El Khorassani, Mohamed; Aguennouz, Mhammed; Groppa, Stanislav; Karashova, Blagovesta Marinova; Di Rosa, Gabriella; Goraya, Jatinder S.; Sultan, Tipu; Avdjieva, Daniela; Kathom, Hadil; Tincheva, Radka; Banu, Selina; Veggiotti, Pierangelo; Verrotti, Alberto; Savasta, Salvatore; Ruiz, Alfons Macaya; Garavaglia, Barbara; Borgione, Eugenia; Papacostas, Savvas; Compagnoni, Chiara; Piccirilli, Alessandra; Vikelis, Michail; Chelban, Viorica; Kaiyrzhanov, Rauan; Cortese, Andrea; Sullivan, Roisin; Papanicolaou, Eleni Zamba; Dardiotis, Efthymios; Maqbool, Shazia; Ibrahim, Shahnaz; Kirmani, Salman; Rana, Nuzhat Noureen; Atawneh, Osama; Lim, Shen-Yang; Shaikh, Farooq; Scardamaglia, Annarita; Koutsis, George; Mangano, Salvatore; Scuderi, Carmela; Morello, Giovanna; Zollo, Massimo; Heimer, Gali; Striano, Pasquale; Al-Khawaja, Issam; Al-Mutairi, Fuad; Alkuraya, Fowzan S.; Rizig, Mie; Shashkin, Chingiz; Zharkynbekova, Nazira; Koneyev, Kairgali; Manizha, Ganieva; Isrofilov, Maksud; Guliyeva, Ulviyya; Salayev, Kamran; Khachatryan, Samson; Xiromerisiou, Georgia; Spanaki, Cleanthe; Tucci, Arianna; Fiorillo, Chiara; Rissotto, Federico; Munell, Francina; Gagliano, Antonella; Jan, Farida; Chimenz, Roberto; Gitto, Eloisa; Cuppari, Caterina; Romeo, Carmelo; Magrinelli, Francesca; Gupta, Neerja; Kabra, Madhulika; Benrhouma, Hanene; Tazir, Meriem; Zagaroli, Luca; Caloisi, Claudia; Fabiano, Cecilia; Bottone, Gabriella; Farello, Giovanni; Di Fabio, Sandra; Obeid, Makram; Bakhtadze, Sophia; Saadi, Nebal W.; Zaki, Maha S.; Triki, Chahnez C.; Kara, Majdi; Belcastro, Vincenzo; Specchio, Nicola; Karimiani, Ehsan G.; Salih, Ahmed M.; Ramenghi, Luca A.; David, Emanuele; Curró, Riccardo; Iezzi, Maria Laura; Iapadre, Giulia; Nanni, Giuliana; Scorrano, Giovanna; Fiorile, Maria F.; Brancati, Francesco; Di Falco, Giovanna; Mandarà, Luana; Barrano, Giuseppe; Elia, Maurizio; Terrone, Gaetano; Operto, Francesca F.; Valenzise, Mariella; Della Rocca, Ylenia; Zazzeroni, Francesca; Alesse, Edoardo; Manti, Filippo; Galosi, Serena; Nardecchia, Francesca; Leuzzi, Vincenzo; Pironti, Erica; Amore, Greta; Ceravolo, Giorgia; Zafar, Faisal; Ullah, Ehsan; Afzal, Erum; Javed, Iram; Rahman, Fatima; Ahmed, Muhammad Mehboob; Parisi, Pasquale; Borgia, Paola; Mangano, Giuseppe D.; Chiarelli, Francesco; Andrea, Accogli; Petree, Cassidy; Huang, Kevin; Monastiri, Kamel; Edizadeh, Masoud; Nardello, Rosaria; Ognibene, Marzia; De Marco, Patrizia; Ruggieri, Martino; Zara, Federico; Şahin, Yavuz; Al-Gazali, Lihadh; Abi Warde, Marie Therese; Gerard, Benedicte; Zifarelli, Giovanni; Beetz, Christian; Fortuna, Sara; Soler, Miguel; Valente, Enza Maria; Varshney, Gaurav; Maroofian, Reza; Salpietro, Vincenzo; Houlden, Henry
A Machine Learning Approach to the Diagnosis of Autism Spectrum Disorder and Multi-Systemic Developmental Disorder Based on Retrospective Data and ADOS-2 Score
2023-01-01 Briguglio, M; Turriziani, L; Currò, A; Gagliano, A; Di Rosa, G; Caccamo, D; Tonacci, A; Gangemi, S.
A new form of alpha-dystroglycanopathy associated with severe drug-resistant epilepsy and unusual EEG features
2011-01-01 Di Rosa G; Messina S; D'Amico A; Bertini E; Pustorino G; Spanò M; Tortorella G.
A novel CDKL5 mutation in a 47,XXY boy with the early-onset seizure variant of Rett syndrome
2008-01-01 DI ROSA, Gabriella; Polli, R; Sartori, S; Bettella, E; Tricomi, G; Tortorella, Gaetano; Murgia, A.
A Novel CDKL5 Mutation in a 47,XXY Boy With the Early-Onset Seizure Variant of Rett Syndrome
2009-01-01 Sartori, S; DI ROSA, Gabriella; Polli, R; Bettella, E; Tricomi, Giovanni; Tortorella, Gaetano; Murgia, A.
A Novel Homozygous ALG12 Mutation in a Patient with CDG Type Ig: New Report of a Case with a Mild Phenotype
2021-01-01 Nicotera, A; Spoto, G; Cali, F; Romeo, G; Musumeci, A; Vinci, M; Fiumara, A; Barone, R; Di Rosa, G; Musumeci, Sa
A novel mutation of palmitoyl protein thioesterase-1 gene in two Italian sibs with a variant late-infantile neuronal ceroid-lipofuscinosis
2005-01-01 DI ROSA, Gabriella; Bonsignore, M; Pustorino, G; Piemonte, F; Tessa, A; Santorelli, F; Tortorella, Gaetano; A., Simonati; F., Calamoneri
A novel SLC1A4 homozygous mutation causing congenital microcephaly, epileptic encephalopathy and spastic tetraparesis: a video-EEG and tractography – case study
2018-01-01 PIRONTI, ERICA; Salpietro, V; Cucinotta, F; Granata, F; Mormina, E; Efthymiou, S; Scuderi, C; Gagliano, A; Houlden, H; Di Rosa, G
A novel variant of GALC in a familial case of Krabbe disease: Insights from structural bioinformatics and molecular dynamics simulation
2023-01-01 Ullah, I; Waqas, M; Ilyas, M; Halim, Sa; Ahmad, A; Dominik, N; Ullah, W; Abbas, M; Aamir, M; SYNaPS Study, Group; Aguennouz, M; Di Rosa, G; Queen Square, Genomics; Houlden, H; Efthymiou, S; Khan, A; Al-Harrasi, A.
A PAK1 Mutational Hotspot Within the Regulatory CRIPaK Domain is Associated With Severe Neurodevelopmental Disorders in Children
2023-01-01 Scorrano, Giovanna; D'Onofrio, Gianluca; Accogli, Andrea; Severino, Mariasavina; Buchert, Rebecca; Kotzaeridou, Urania; Iapadre, Giulia; Farello, Giovanni; Iacomino, Michele; Dono, Fedele; Di Francesco, Ludovica; Fiorile, Maria Francesca; La Bella, Saverio; Corsello, Antonio; Calì, Elisa; Di Rosa, Gabriella; Gitto, Eloisa; Verrotti, Alberto; Fortuna, Sara; Soler, Miguel A; Chiarelli, Francesco; Oehl-Jaschkowitz, Barbara; Haack, Tobias B; Zara, Federico; Striano, Pasquale; Salpietro, Vincenzo
A PROPOSAL FOR CLASSIFICATION OF PSYCHOGENIC NON EPILEPTIC SEIZURES
2013-01-01 Magaudda A.; Lagana A.; Di Rosa G.; Cornaggia C.M.; Beghi M.; Beghi E.
A rare case of cerebellar agenesis: a probabilistic Constrained Spherical Deconvolution tractographic study
2016-01-01 Mormina, Enricomaria; Briguglio, M; Morabito, R; Arrigo, A; Marino, Silvia; Di Rosa, Gabriella; Micalizzi, A; Valente, Em; Salpietro, V; Vinci, Sergio Lucio; Longo, Marcello; Granata, Francesca
Adrenal Disorders and the Paediatric Brain: Pathophysiological Considerations and Clinical Implications.
2014-01-01 V. Salpietro ;A. Polizzi; G. Di Rosa; AC Romeo;V. Dipasquale; P. Morabito; V. Chirico; T. Arrigo; M. Ruggieri.
Adrenal disorders and the paediatric brain: pathophysiological considerations and clinical implications
2014-01-01 Salpietro, Vincenzo; Polizzi, Agata; Di Rosa, Gabriella; Romeo, Anna Claudia; Dipasquale, Valeria; Morabito, Paolo; Chirico, Valeria; Arrigo, Teresa; Ruggieri, Martino
Age-Related Neurodevelopmental Features in Children with Joubert Syndrome
2023-01-01 Scuderi, A; Prato, A; Dicanio, D; Spoto, G; Salpietro, V; Ceravolo, G; Granata, F; Farello, G; Iapadre, G; Zagaroli, L; Nanni, G; Ceravolo, I; Pironti, E; Amore, G; Di Rosa, G
Alpha-synuclein: between synaptic function and dysfunction
2003-01-01 DI ROSA, Gabriella; Puzzo, D; Sant'Angelo, Antonino; Trinchese, F; Arancio, O.
Titolo | Data di pubblicazione | Autore(i) | File |
---|---|---|---|
8q22.1 Microduplication Syndrome: Why the Brain Should Be Spared? A Literature Review and a Case Report | 1-gen-2018 | Gagliano, A; Pironti, E; Cucinotta, F; Galati, C; Maggio, R; Alquino, Ma; Di Rosa, G | |
A de novo 0.63 Mb 6q25.1 deletion associated with growth failure, congenital heart defect, underdeveloped cerebellar vermis, abnormal cutaneous elasticity and joint laxity. | 1-gen-2015 | Salpietro Damiano, Vincenzo; Ruggieri, Marianna; Mankad, K; Di Rosa, Gabriella; Granata, Francesca; Loddo, Italia; Moschella, Emanuela; Calabro', Maria Pia; Capalbo, A; Bernardini, L; Novelli, A; Polizzi, A; Seidler, Dg; Arrigo, Teresa; Briuglia, Silvana | |
A de novo truncating mutation in ASXL1 associated with segmental overgrowth | 1-gen-2019 | Efthymiou, S; Salpietro, V; Pironti, E; Bonsignore, M; Ferrazzoli, V; Di Rosa, G; Houlden, H | |
A Focus on the Cerebellum: From Embryogenesis to an Age-Related Clinical Perspective | 1-gen-2021 | Amore, G.; Spoto, G.; Ieni, A.; Vetri, L.; Quatrosi, G.; Di Rosa, G.; Nicotera, A. G. | |
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease | 1-gen-2022 | Calì, Elisa; Lin, Sheng-Jia; Rocca, Clarissa; Sahin, Yavuz; Al Shamsi, Aisha; El Chehadeh, Salima; Chaabouni, Myriam; Mankad, Kshitij; Galanaki, Evangelia; Efthymiou, Stephanie; Sudhakar, Sniya; Athanasiou-Fragkouli, Alkyoni; Çelik, Tamer; Narlı, Nejat; Bianca, Sebastiano; Murphy, David; De Carvalho Moreira, Francisco Martins; Hannah, Michael G.; Bugiardini, Enrico; Kriouile, Yamna; El Khorassani, Mohamed; Aguennouz, Mhammed; Groppa, Stanislav; Karashova, Blagovesta Marinova; Di Rosa, Gabriella; Goraya, Jatinder S.; Sultan, Tipu; Avdjieva, Daniela; Kathom, Hadil; Tincheva, Radka; Banu, Selina; Veggiotti, Pierangelo; Verrotti, Alberto; Savasta, Salvatore; Ruiz, Alfons Macaya; Garavaglia, Barbara; Borgione, Eugenia; Papacostas, Savvas; Compagnoni, Chiara; Piccirilli, Alessandra; Vikelis, Michail; Chelban, Viorica; Kaiyrzhanov, Rauan; Cortese, Andrea; Sullivan, Roisin; Papanicolaou, Eleni Zamba; Dardiotis, Efthymios; Maqbool, Shazia; Ibrahim, Shahnaz; Kirmani, Salman; Rana, Nuzhat Noureen; Atawneh, Osama; Lim, Shen-Yang; Shaikh, Farooq; Scardamaglia, Annarita; Koutsis, George; Mangano, Salvatore; Scuderi, Carmela; Morello, Giovanna; Zollo, Massimo; Heimer, Gali; Striano, Pasquale; Al-Khawaja, Issam; Al-Mutairi, Fuad; Alkuraya, Fowzan S.; Rizig, Mie; Shashkin, Chingiz; Zharkynbekova, Nazira; Koneyev, Kairgali; Manizha, Ganieva; Isrofilov, Maksud; Guliyeva, Ulviyya; Salayev, Kamran; Khachatryan, Samson; Xiromerisiou, Georgia; Spanaki, Cleanthe; Tucci, Arianna; Fiorillo, Chiara; Rissotto, Federico; Munell, Francina; Gagliano, Antonella; Jan, Farida; Chimenz, Roberto; Gitto, Eloisa; Cuppari, Caterina; Romeo, Carmelo; Magrinelli, Francesca; Gupta, Neerja; Kabra, Madhulika; Benrhouma, Hanene; Tazir, Meriem; Zagaroli, Luca; Caloisi, Claudia; Fabiano, Cecilia; Bottone, Gabriella; Farello, Giovanni; Di Fabio, Sandra; Obeid, Makram; Bakhtadze, Sophia; Saadi, Nebal W.; Zaki, Maha S.; Triki, Chahnez C.; Kara, Majdi; Belcastro, Vincenzo; Specchio, Nicola; Karimiani, Ehsan G.; Salih, Ahmed M.; Ramenghi, Luca A.; David, Emanuele; Curró, Riccardo; Iezzi, Maria Laura; Iapadre, Giulia; Nanni, Giuliana; Scorrano, Giovanna; Fiorile, Maria F.; Brancati, Francesco; Di Falco, Giovanna; Mandarà, Luana; Barrano, Giuseppe; Elia, Maurizio; Terrone, Gaetano; Operto, Francesca F.; Valenzise, Mariella; Della Rocca, Ylenia; Zazzeroni, Francesca; Alesse, Edoardo; Manti, Filippo; Galosi, Serena; Nardecchia, Francesca; Leuzzi, Vincenzo; Pironti, Erica; Amore, Greta; Ceravolo, Giorgia; Zafar, Faisal; Ullah, Ehsan; Afzal, Erum; Javed, Iram; Rahman, Fatima; Ahmed, Muhammad Mehboob; Parisi, Pasquale; Borgia, Paola; Mangano, Giuseppe D.; Chiarelli, Francesco; Andrea, Accogli; Petree, Cassidy; Huang, Kevin; Monastiri, Kamel; Edizadeh, Masoud; Nardello, Rosaria; Ognibene, Marzia; De Marco, Patrizia; Ruggieri, Martino; Zara, Federico; Şahin, Yavuz; Al-Gazali, Lihadh; Abi Warde, Marie Therese; Gerard, Benedicte; Zifarelli, Giovanni; Beetz, Christian; Fortuna, Sara; Soler, Miguel; Valente, Enza Maria; Varshney, Gaurav; Maroofian, Reza; Salpietro, Vincenzo; Houlden, Henry | |
A Machine Learning Approach to the Diagnosis of Autism Spectrum Disorder and Multi-Systemic Developmental Disorder Based on Retrospective Data and ADOS-2 Score | 1-gen-2023 | Briguglio, M; Turriziani, L; Currò, A; Gagliano, A; Di Rosa, G; Caccamo, D; Tonacci, A; Gangemi, S. | |
A new form of alpha-dystroglycanopathy associated with severe drug-resistant epilepsy and unusual EEG features | 1-gen-2011 | Di Rosa G; Messina S; D'Amico A; Bertini E; Pustorino G; Spanò M; Tortorella G. | |
A novel CDKL5 mutation in a 47,XXY boy with the early-onset seizure variant of Rett syndrome | 1-gen-2008 | DI ROSA, Gabriella; Polli, R; Sartori, S; Bettella, E; Tricomi, G; Tortorella, Gaetano; Murgia, A. | |
A Novel CDKL5 Mutation in a 47,XXY Boy With the Early-Onset Seizure Variant of Rett Syndrome | 1-gen-2009 | Sartori, S; DI ROSA, Gabriella; Polli, R; Bettella, E; Tricomi, Giovanni; Tortorella, Gaetano; Murgia, A. | |
A Novel Homozygous ALG12 Mutation in a Patient with CDG Type Ig: New Report of a Case with a Mild Phenotype | 1-gen-2021 | Nicotera, A; Spoto, G; Cali, F; Romeo, G; Musumeci, A; Vinci, M; Fiumara, A; Barone, R; Di Rosa, G; Musumeci, Sa | |
A novel mutation of palmitoyl protein thioesterase-1 gene in two Italian sibs with a variant late-infantile neuronal ceroid-lipofuscinosis | 1-gen-2005 | DI ROSA, Gabriella; Bonsignore, M; Pustorino, G; Piemonte, F; Tessa, A; Santorelli, F; Tortorella, Gaetano; A., Simonati; F., Calamoneri | |
A novel SLC1A4 homozygous mutation causing congenital microcephaly, epileptic encephalopathy and spastic tetraparesis: a video-EEG and tractography – case study | 1-gen-2018 | PIRONTI, ERICA; Salpietro, V; Cucinotta, F; Granata, F; Mormina, E; Efthymiou, S; Scuderi, C; Gagliano, A; Houlden, H; Di Rosa, G | |
A novel variant of GALC in a familial case of Krabbe disease: Insights from structural bioinformatics and molecular dynamics simulation | 1-gen-2023 | Ullah, I; Waqas, M; Ilyas, M; Halim, Sa; Ahmad, A; Dominik, N; Ullah, W; Abbas, M; Aamir, M; SYNaPS Study, Group; Aguennouz, M; Di Rosa, G; Queen Square, Genomics; Houlden, H; Efthymiou, S; Khan, A; Al-Harrasi, A. | |
A PAK1 Mutational Hotspot Within the Regulatory CRIPaK Domain is Associated With Severe Neurodevelopmental Disorders in Children | 1-gen-2023 | Scorrano, Giovanna; D'Onofrio, Gianluca; Accogli, Andrea; Severino, Mariasavina; Buchert, Rebecca; Kotzaeridou, Urania; Iapadre, Giulia; Farello, Giovanni; Iacomino, Michele; Dono, Fedele; Di Francesco, Ludovica; Fiorile, Maria Francesca; La Bella, Saverio; Corsello, Antonio; Calì, Elisa; Di Rosa, Gabriella; Gitto, Eloisa; Verrotti, Alberto; Fortuna, Sara; Soler, Miguel A; Chiarelli, Francesco; Oehl-Jaschkowitz, Barbara; Haack, Tobias B; Zara, Federico; Striano, Pasquale; Salpietro, Vincenzo | |
A PROPOSAL FOR CLASSIFICATION OF PSYCHOGENIC NON EPILEPTIC SEIZURES | 1-gen-2013 | Magaudda A.; Lagana A.; Di Rosa G.; Cornaggia C.M.; Beghi M.; Beghi E. | |
A rare case of cerebellar agenesis: a probabilistic Constrained Spherical Deconvolution tractographic study | 1-gen-2016 | Mormina, Enricomaria; Briguglio, M; Morabito, R; Arrigo, A; Marino, Silvia; Di Rosa, Gabriella; Micalizzi, A; Valente, Em; Salpietro, V; Vinci, Sergio Lucio; Longo, Marcello; Granata, Francesca | |
Adrenal Disorders and the Paediatric Brain: Pathophysiological Considerations and Clinical Implications. | 1-gen-2014 | V. Salpietro ;A. Polizzi; G. Di Rosa; AC Romeo;V. Dipasquale; P. Morabito; V. Chirico; T. Arrigo; M. Ruggieri. | |
Adrenal disorders and the paediatric brain: pathophysiological considerations and clinical implications | 1-gen-2014 | Salpietro, Vincenzo; Polizzi, Agata; Di Rosa, Gabriella; Romeo, Anna Claudia; Dipasquale, Valeria; Morabito, Paolo; Chirico, Valeria; Arrigo, Teresa; Ruggieri, Martino | |
Age-Related Neurodevelopmental Features in Children with Joubert Syndrome | 1-gen-2023 | Scuderi, A; Prato, A; Dicanio, D; Spoto, G; Salpietro, V; Ceravolo, G; Granata, F; Farello, G; Iapadre, G; Zagaroli, L; Nanni, G; Ceravolo, I; Pironti, E; Amore, G; Di Rosa, G | |
Alpha-synuclein: between synaptic function and dysfunction | 1-gen-2003 | DI ROSA, Gabriella; Puzzo, D; Sant'Angelo, Antonino; Trinchese, F; Arancio, O. |