نتائج البحث - "Giuliana Nanni"

1

دورية أكاديمية

A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease

المؤلفون: 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, Andrea Accogli, null, Petree, Cassidy, Huang, Kevin, Monastiri, Kamel, Edizadeh, Masoud, Nardello, Rosaria, Ognibene, Marzia, De Marco, Patrizia, Ruggieri, Martino, Zara, Federico, Striano, Pasquale, 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, 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, Pasquale Striano, 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

المساهمون: 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, G Hannah, Michael, Bugiardini, Enrico, Kriouile, Yamna, El Khorassani, Mohamed, Aguennouz, Mhammed, Groppa, Stanislav, Marinova Karashova, Blagovesta, Di Rosa, Gabriella, S Goraya, Jatinder, Sultan, Tipu, Avdjieva, Daniela, Kathom, Hadil, Tincheva, Radka, Banu, Selina, Veggiotti, Pierangelo, Verrotti, Alberto, Savasta, Salvatore, Macaya Ruiz, Alfon, Garavaglia, Barbara, Borgione, Eugenia, Papacostas, Savva, Compagnoni, Chiara, Piccirilli, Alessandra, Vikelis, Michail, Chelban, Viorica, Kaiyrzhanov, Rauan, Cortese, Andrea, Sullivan, Roisin, Zamba Papanicolaou, Eleni, Dardiotis, Efthymio, Maqbool, Shazia, Ibrahim, Shahnaz, Kirmani, Salman, Noureen Rana, Nuzhat, 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, S Alkuraya, Fowzan, Rizig, Mie, Shashkin, Chingiz, Zharkynbekova, Nazira, Koneyev, Kairgali, Manizha, Ganieva, Isrofilov, Maksud, Guliyeva, Ulviyya, Salayev, Kamran, Khachatryan, Samson, Xiromerisiou, Georgia

مصطلحات موضوعية: Human mediator complex, MED11, MEDopathies

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36001086; info:eu-repo/semantics/altIdentifier/wos/WOS:000879580900020; journal:GENETICS IN MEDICINE; http://hdl.handle.net/11573/1656558Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85136518302

الإتاحة: https://doi.org/10.1016/j.gim.2022.07.013Test
http://hdl.handle.net/11573/1656558Test

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2

Joubert Syndrome: Diagnostic Evaluation and Follow-up

المؤلفون: Caterina Cuppari, Ida Ceravolo, Alessio Mancuso, Giovanni Farello, Giulia Iapadre, Luca Zagaroli, Giuliana Nanni, Maria Domenica Ceravolo

المصدر: Journal of Pediatric Neurology. 21:053-057

مصطلحات موضوعية: Pediatrics, Perinatology and Child Health, Neurology (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::6eaab9f0f868f028a599c14da3be7538Test
https://doi.org/10.1055/s-0042-1759532Test

3

The Function and Role of the Cilium in the Development of Ciliopathies

المؤلفون: Alessio Mancuso, Ida Ceravolo, Caterina Cuppari, Alessia Sallemi, Monica Fusco, Antonio Ceravolo, Giovanni Farello, Giulia Iapadre, Luca Zagaroli, Giuliana Nanni, Giovanni Conti

المصدر: Journal of Pediatric Neurology. 21:078-084

مصطلحات موضوعية: cilium, Joubert syndrome, Pediatrics, Perinatology and Child Health, ciliopathies, Neurology (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e0cd74450c21948db6b5c4bb3b4608aTest
https://doi.org/10.1055/s-0042-1759533Test

4

A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease

المؤلفون: 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

المساهمون: Tıp Fakültesi

مصطلحات موضوعية: Mediator Complex, Homozygote, Human mediator complex, MED11, MEDopathies, Neurodegenerative Diseases, Human Mediator Complex, Animals, Humans, RNA, Zebrafish, Microcephaly, Medopathies, Genetics (clinical)

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3ad32ae43b493e4ed17edb86a09aa52Test
https://hdl.handle.net/20.500.12445/2759Test

5

Age-Related Neurodevelopmental Features in Children with Joubert Syndrome

المؤلفون: 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

مصطلحات موضوعية: neurodevelopment, age-related onset, Joubert syndrome, Pediatrics, Perinatology and Child Health, Neurology (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7095d4ec4f2457ca2551c62441c3176Test
https://hdl.handle.net/11697/197645Test

6

دورية أكاديمية

Long-term follow-up in children with benign convulsions associated with gastroenteritis

المساهمون: Alberto, Verrotti, Romina, Moavero, Federico, Vigevano, Laura, Cantonetti, Azzurra, Guerra, Elisabetta, Spezia, Antonella, Tricarico, Giuliana, Nanni, Sergio, Agostinelli, Francesco, Chiarelli, Parisi, Pasquale, Giuseppe, Capovilla, Francesca, Beccaria, Spalice, Alberto, Giangennaro, Coppola, Emilio, Franzoni, Gentile Jr, V., Susanna, Casellato, Pierangelo, Veggiotti, Sara, Malgesini, Giovanni, Crichiutti, Paolo, Balestri, Salvatore, Grosso, Nelia, Zamponi, Gemma, Incorpora, Salvatore, Savasta, Paola, Costa, Dario, Pruna, Raffaella, Cusmai

مصطلحات موضوعية: long-term follow-up, seizure, gastroenteriti, anti-epileptic drug, seizure relapse

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/24780603; info:eu-repo/semantics/altIdentifier/wos/WOS:000341552300004; volume:18; issue:5; firstpage:572; lastpage:577; numberofpages:6; journal:EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY; http://hdl.handle.net/11573/629317Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84906939186

الإتاحة: https://doi.org/10.1016/j.ejpn.2014.04.006Test
http://hdl.handle.net/11573/629317Test

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7

Non-Epileptik Psikojen Nöbetler: Klinik Pratikte Çözülmesi Zor Tanısal Bir Problem

المؤلفون: Giuseppe Gobbi, Piero Pavone, Sergio Agostinelli, Alberto Verrotti, Giuliana Nanni

المصدر: Nöro Psikiyatri Arşivi. 49:243-247

مصطلحات موضوعية: Psychiatry and Mental health, General Neuroscience, Psychogenic non-epileptic seizures, medicine, medicine.disease, Psychogenic Seizure

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::222492a7aa5e48ea06f8e642ff929e75Test
https://doi.org/10.4274/npa.y6687Test

8

Long-term follow-up in children with benign convulsions associated with gastroenteritis

المساهمون: Alberto Verrotti, Romina Moavero, Federico Vigevano, Laura Cantonetti, Azzurra Guerra, Elisabetta Spezia, Antonella Tricarico, Giuliana Nanni, Sergio Agostinelli, Francesco Chiarelli, Pasquale Parisi, Giuseppe Capovilla, Francesca Beccaria, Alberto Spalice, Giangennaro Coppola, Emilio Franzoni, Valentina Gentile, Susanna Casellato, Pierangelo Veggiotti, Sara Malgesini, Giovanni Crichiutti, Paolo Balestri, Salvatore Grosso, Nelia Zamponi, Gemma Incorpora, Salvatore Savasta, Paola Costa, Dario Pruna, Raffaella Cusmai

مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Adolescent, Long term follow up, Anti-epileptic drugs, Gastroenteritis, Long-term follow-up, Seizure relapse, Seizures, Anticonvulsants, Attention Deficit Disorder with Hyperactivity, Child, Child, Preschool, Electroencephalography, Epilepsy, Female, Humans, Longitudinal Studies, Neurologic Examination, Retrospective Studies, Pediatrics, Perinatology and Child Health, Neurology (clinical), Neurological examination, Febrile seizure, medicine, Relapse risk, Preschool, Psychomotor learning, Anti-epileptic drugs, Gastroenteritis, Long-term follow-up, Seizure relapse, Seizures, medicine.diagnostic_test, business.industry, Retrospective cohort study, General Medicine, Perinatology and Child Health, medicine.disease, Settore MED/39 - Neuropsichiatria Infantile, long-term follow-up, seizures, gastroenteritis, anti-epileptic drugs, seizure relapse, Anesthesia, business

وصف الملف: STAMPA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1fe4e1663d85fd0d5c611669429d66b6Test
http://hdl.handle.net/11697/125011Test

9

Effects of the abrupt switch from solution to modified-release granule formulation of valproate

المؤلفون: E. T. Alleva, Giuliana Nanni, Sergio Agostinelli, Emilio Franzoni, Alberto Verrotti, Alberto Spalice, Paolo Aloisi, Giangennaro Coppola, Francesco Chiarelli

المصدر: Acta Neurologica Scandinavica. 125:e14-e18

مصطلحات موضوعية: Valproic Acid, Dose, business.industry, Granule (cell biology), General Medicine, medicine.disease, Treatment efficacy, Epilepsy, Neurology, Tolerability, Eeg data, Anesthesia, medicine, Neurology (clinical), Prospective cohort study, business, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::6a6a0343eae3b791a87d66e92b3a81beTest
https://doi.org/10.1111/j.1600-0404.2011.01568.xTest

10

دورية أكاديمية

Benign convulsions associated with mild gastroenteritis: a multicenter clinical study

المساهمون: Alberto, Verrotti, Giuliana, Nanni, Sergio, Agostinelli, Parisi, Pasquale, Giuseppe, Capovilla, Francesca, Beccaria, Iannetti, Paola, Spalice, Alberto, Giangennaro, Coppola, Emilio, Franzoni, Valentina, Gentile, Susanna, Casellato, Pierangelo, Veggiotti, Sara, Malgesini, Giovanni, Crichiutti, Paolo, Balestri, Salvatore, Grosso, Nelia, Zamponi, Gemma, Incorpora, Salvatore, Savasta, Paola, Costa, Dario, Pruna, Francesco, Chiarelli

مصطلحات موضوعية: afebrile seizure, antiepileptic drug, gastroenteriti, ictal eeg, rotaviru, benign convulsions with mild gastroenteritis (CwG)

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/21146369; info:eu-repo/semantics/altIdentifier/wos/WOS:000287616700003; volume:93; issue:2-3; firstpage:107; lastpage:114; numberofpages:8; journal:EPILEPSY RESEARCH; http://hdl.handle.net/11573/354577Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-79251617942; http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=000287616700003&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=0c7ff228ccbaaa74236f48834a34396aTest; http://www.scopus.com/inward/record.url?eid=2-s2.0-79251617942&partnerID=65&md5=cf0beb2bf44333209543bb9eaeb6533cTest

الإتاحة: https://doi.org/10.1016/j.eplepsyres.2010.11.004Test
http://hdl.handle.net/11573/354577Test
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=000287616700003&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=0c7ff228ccbaaa74236f48834a34396aTest
http://www.scopus.com/inward/record.url?eid=2-s2.0-79251617942&partnerID=65&md5=cf0beb2bf44333209543bb9eaeb6533cTest

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