Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Erica Pironti"'
Autor:
Antonella Gagliano, Erica Pironti, Francesca Cucinotta, Cecilia Galati, Roberta Maggio, Maria Ausilia Alquino, Gabriella Di Rosa
Publikováno v:
Case Reports in Medicine, Vol 2018 (2018)
Microduplication of chromosome 8q22.1 is mainly associated to Leri’s pleonosteosis syndrome phenotype, an extremely rare autosomal dominant disease encompassing the GDF6 and SDC2 genes. To date, most of the authors focus their attention only on ske
Externí odkaz:
https://doaj.org/article/5b2b29cd5d0c480c860c371231cbf4f1
Autor:
Adriana Prato, Anna Scuderi, Greta Amore, Giulia Spoto, Vincenzo Salpietro, Antonio Ceravolo, Giovanni Farello, Giulia Iapadre, Erica Pironti, Daniela Dicanio, Gabriella Di Rosa
Publikováno v:
Journal of Pediatric Neurology. 21:044-048
Epilepsy is rarely associated with Joubert's syndrome and related disorders (JSRD), being reported only in 3% of cases. Few patients have been described, moreover, with poor evidences of specific seizures' semiology or standard of practice for pharma
Autor:
Giulia Spoto, Erica Pironti, Greta Amore, Adriana Prato, Anna Scuderi, Pia V. Colucci, Ida Ceravolo, Giovanni Farello, Vincenzo Salpietro, Giulia Iapadre, Gabriella Di Rosa, Daniela Dicanio
Publikováno v:
Journal of Pediatric Neurology. 21:018-022
Alström syndrome (ALMS) is a rare ciliopathy with pleiotropic and wide spectrum of clinical features. It is autosomal recessively inherited and associated with mutations in ALMS1, a gene involved in cilia functioning. High clinical heterogeneity is
Autor:
Greta Amore, Giulia Spoto, Anna Scuderi, Adriana Prato, Daniela Dicanio, Antonio Nicotera, Giovanni Farello, Roberto Chimenz, Ida Ceravolo, Vincenzo Salpietro, Eloisa Gitto, Giorgia Ceravolo, Giulia Iapadre, Gabriella Di Rosa, Erica Pironti
Publikováno v:
Journal of Pediatric Neurology. 21:033-040
Bardet–Biedl syndrome is a genetically pleiotropic disorder characterized by high clinical heterogeneity with severe multiorgan impairment. Clinically, it encompasses primary and secondary manifestations, mainly including retinal dystrophy, mental
Autor:
Vincenzo Salpietro, Stephanie Efthymiou, Patrizia Mondello, Antonio Gennaro Nicotera, Anna Cafeo, Gabriella Di Rosa, Henry Houlden, Daniela Dicanio, Erica Pironti, Maria Bonsignore
Publikováno v:
Journal of Neurogenetics. 35:67-73
The SLC25A22 (Solute Carrier Family 25, Member 22) gene encodes for a mitochondrial glutamate/H+ symporter and is involved in the mitochondrial transport of metabolites across the mitochondrial membrane. We hereby report a 12-year-old girl presenting
Autor:
Elisa Calì, Sheng-Jia Lin, Clarissa Rocca, Yavuz Sahin, Aisha Al Shamsi, Salima El Chehadeh, Myriam Chaabouni, Kshitij Mankad, Evangelia Galanaki, Stephanie Efthymiou, Sniya Sudhakar, Alkyoni Athanasiou-Fragkouli, Tamer Çelik, Nejat Narlı, Sebastiano Bianca, David Murphy, Francisco Martins De Carvalho Moreira, null Andrea Accogli, Cassidy Petree, Kevin Huang, Kamel Monastiri, Masoud Edizadeh, Rosaria Nardello, Marzia Ognibene, Patrizia De Marco, Martino Ruggieri, Federico Zara, Pasquale Striano, Yavuz Şahin, Lihadh Al-Gazali, Marie Therese Abi Warde, Benedicte Gerard, Giovanni Zifarelli, Christian Beetz, Sara Fortuna, Miguel Soler, Enza Maria Valente, Gaurav Varshney, Reza Maroofian, Vincenzo Salpietro, Henry Houlden, Michael G. Hannah, Enrico Bugiardini, Yamna Kriouile, Mohamed El Khorassani, Mhammed Aguennouz, Stanislav Groppa, Blagovesta Marinova Karashova, Gabriella Di Rosa, Jatinder S. Goraya, Tipu Sultan, Daniela Avdjieva, Hadil Kathom, Radka Tincheva, Selina Banu, Pierangelo Veggiotti, Alberto Verrotti, Salvatore Savasta, Alfons Macaya Ruiz, Barbara Garavaglia, Eugenia Borgione, Savvas Papacostas, Chiara Compagnoni, Alessandra Piccirilli, Michail Vikelis, Viorica Chelban, Rauan Kaiyrzhanov, Andrea Cortese, Roisin Sullivan, Eleni Zamba Papanicolaou, Efthymios Dardiotis, Shazia Maqbool, Shahnaz Ibrahim, Salman Kirmani, Nuzhat Noureen Rana, Osama Atawneh, Shen-Yang Lim, Farooq Shaikh, Annarita Scardamaglia, George Koutsis, Salvatore Mangano, Carmela Scuderi, Giovanna Morello, Massimo Zollo, Gali Heimer, Issam Al-Khawaja, Fuad Al-Mutairi, Fowzan S. Alkuraya, Mie Rizig, Chingiz Shashkin, Nazira Zharkynbekova, Kairgali Koneyev, Ganieva Manizha, Maksud Isrofilov, Ulviyya Guliyeva, Kamran Salayev, Samson Khachatryan, Georgia Xiromerisiou, Cleanthe Spanaki, Arianna Tucci, Chiara Fiorillo, Federico Rissotto, Francina Munell, Antonella Gagliano, Farida Jan, Roberto Chimenz, Eloisa Gitto, Caterina Cuppari, Carmelo Romeo, Francesca Magrinelli, Neerja Gupta, Madhulika Kabra, Hanene Benrhouma, Meriem Tazir, Luca Zagaroli, Claudia Caloisi, Cecilia Fabiano, Gabriella Bottone, Giovanni Farello, Sandra Di Fabio, Makram Obeid, Sophia Bakhtadze, Nebal W. Saadi, Maha S. Zaki, Chahnez C. Triki, Majdi Kara, Vincenzo Belcastro, Nicola Specchio, Ehsan G. Karimiani, Ahmed M. Salih, Luca A. Ramenghi, Emanuele David, Riccardo Curró, Maria Laura Iezzi, Giulia Iapadre, Giuliana Nanni, Giovanna Scorrano, Maria F. Fiorile, Francesco Brancati, Giovanna Di Falco, Luana Mandarà, Giuseppe Barrano, Maurizio Elia, Gaetano Terrone, Francesca F. Operto, Mariella Valenzise, Ylenia Della Rocca, Francesca Zazzeroni, Edoardo Alesse, Filippo Manti, Serena Galosi, Francesca Nardecchia, Vincenzo Leuzzi, Erica Pironti, Greta Amore, Giorgia Ceravolo, Faisal Zafar, Ehsan Ullah, Erum Afzal, Iram Javed, Fatima Rahman, Muhammad Mehboob Ahmed, Pasquale Parisi, Paola Borgia, Giuseppe D. Mangano, Francesco Chiarelli, Queen Square Genomics
Purpose: The mediator (MED) multisubunit-complex modulates the activity of the transcriptional machinery, and genetic defects in different MED subunits (17, 20, 27) have been implicated in neurologic diseases. In this study, we identified a recurrent
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3ad32ae43b493e4ed17edb86a09aa52
https://hdl.handle.net/20.500.12445/2759
https://hdl.handle.net/20.500.12445/2759
Autor:
Greta, Amore, Giulia, Spoto, Anna, Scuderi, Adriana, Prato, Daniela, Dicanio, Antonio, Nicotera, Farello, Giovanni, Roberto, Chimenz, Ida, Ceravolo, SALPIETRO DAMIANO, Vincenzo, Eloisa, Gitto, Giorgia, Ceravolo, Iapadre, Giulia, Gabriella Di Rosa, Erica, Pironti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3983::1d3f56da66c9ef03ad2e6a01dc50721c
https://hdl.handle.net/11697/197644
https://hdl.handle.net/11697/197644
Autor:
Giulia, Spoto, Erica, Pironti, Greta, Amore, Adriana, Prato, Anna, Scuderi, Colucci, Pia V., Ida, Ceravolo, Farello, Giovanni, SALPIETRO DAMIANO, Vincenzo, Iapadre, Giulia, Gabriella Di Rosa, Daniela, Dicanio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3983::a2273f245aaa46ab28b37ae78ec92ce3
https://hdl.handle.net/11697/197642
https://hdl.handle.net/11697/197642
Autor:
Anna Scuderi, Adriana Prato, Daniela Dicanio, Giulia Spoto, Vincenzo Salpietro, Giorgia Ceravolo, Francesca Granata, Giovanni Farello, Giulia Iapadre, Luca Zagaroli, Giuliana Nanni, Ida Ceravolo, Erica Pironti, Greta Amore, Gabriella Di Rosa
Joubert syndrome (JS) is a rare inherited disorder of central nervous system with neonatal/infantile onset, mainly affecting cerebellum and brainstem, and clinically characterized by agenesis or dysgenesis of the cerebellar vermis with accompanying b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7095d4ec4f2457ca2551c62441c3176
https://hdl.handle.net/11697/197645
https://hdl.handle.net/11697/197645
Autor:
Antonio Gennaro, Nicotera, Daniela, Dicanio, Erica, Pironti, Maria, Bonsignore, Anna, Cafeo, Stephanie, Efthymiou, Patrizia, Mondello, Vincenzo, Salpietro, Henry, Houlden, Gabriella, Di Rosa
Publikováno v:
Journal of neurogenetics. 35(2)
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