Zobrazeno 1 - 10
of 37
pro vyhledávání: '"Loredana Boccone"'
Autor:
Elena Manara, Stefano Paolacci, Fabiana D’Esposito, Andi Abeshi, Lucia Ziccardi, Benedetto Falsini, Leonardo Colombo, Giancarlo Iarossi, Alba Pilotta, Loredana Boccone, Giulia Guerri, Marica Monica, Balzarini Marta, Paolo Enrico Maltese, Luca Buzzonetti, Luca Rossetti, Matteo Bertelli
Publikováno v:
Italian Journal of Pediatrics, Vol 45, Iss 1, Pp 1-8 (2019)
Abstract Background Bardet–Biedl syndrome (BBS) is a rare inherited multisystemic disorder with autosomal recessive or complex digenic triallelic inheritance. There is currently no treatment for BBS, but some morbidities can be managed. Accurate mo
Externí odkaz:
https://doaj.org/article/baad0fff401c40fabb59d9e3e75bf2e8
Autor:
Marica Monica, Benedetto Falsini, Matteo Bertelli, Giancarlo Iarossi, Elena Manara, Paolo Enrico Maltese, Alba Pilotta, Balzarini Marta, Luca Buzzonetti, Luca Rossetti, Loredana Boccone, Leonardo Colombo, Giulia Guerri, Fabiana D'Esposito, Lucia Ziccardi, Stefano Paolacci, Andi Abeshi
Publikováno v:
Italian Journal of Pediatrics, Vol 45, Iss 1, Pp 1-8 (2019)
Italian Journal of Pediatrics
Italian Journal of Pediatrics
Background Bardet–Biedl syndrome (BBS) is a rare inherited multisystemic disorder with autosomal recessive or complex digenic triallelic inheritance. There is currently no treatment for BBS, but some morbidities can be managed. Accurate molecular d
Autor:
Nuovo, Sara, Bacigalupo, Ilaria, Ginevrino, Monia, Battini, Roberta, Bertini, Enrico, Borgatti, Renato, Casella, Antonella, Micalizzi, Alessia, Nardella, Marta, Romaniello, Romina, Serpieri, Valentina, Zanni, Ginevra, Valente, Enza Maria, Vanacore, Nicola, JS Italian Study Group, Patrizia, Accorsi, Enrico, Alfei, Elena, Andreucci, Gianluigi, Ardissino, Emanuela, Avola, Rita, Barone, Francesco, Benedicenti, Stefania, Bigoni, Loredana, Boccone, Bonati, Maria T., Stefania, Bova, Marilena, Briguglio, Silvana, Briuglia, Olga, Calabrese, Cantalupo, Gaetano, Gianluca, Caridi, Monica, Cazzagon, Celle, Maria E., Cilio, Maria R., Giangennaro, Coppola, Adele, D’Amico, Stefano, D’Arrigo, Daniele De Brasi, Maria Fulvia de Leva, Ennio Del Giudice, Marilena Carmela Di Giacomo, Maria Lucia Di Sabato, Bruno, Dallapiccola, Raffaella, Devescovi, Maria Cristina Digilio, Ilaria, Donati, Donati, Maria A., Dotti, Maria T., Francesco, Emma, Antonella, Fabretto, Elisa, Fazzi, Alessandra, Ferlini, Alessandro, Ferraris, Giovanni Battista Ferrero, Anna, Ficcadenti, Simona, Fiori, Rita, Fischetto, Elena, Freri, Livia, Garavelli, Mattia, Gentile, Lucio, Giordano, Donatella, Greco, Claudia, Izzi, Vincenzo, Leuzzi, Elisabetta, Lucarelli, Silvia, Majore, Mancardi, Maria M., Francesca, Mari, Giuseppina, Marra, Laura, Mazzanti, Daniela, Melis, Emanuele, Micaglio, Marisol, Mirabelli-Badenier, Isabella, Moroni, Nardo, Nardocci, Margherita, Nosadini, Simona, Orcesi, Giovanni, Pagani, Chiara, Pantaleoni, Francesco Papadia Papadia, Pasquale, Parisi, Maria Grazia Patricelli, Cinzia, Peruzzi, Alice, Pessagno, Maria, Piccione, Antonella, Pini, Tiziana, Pisano, Livia, Pisciotta, Marzia, Pollazzon, Francesca, Rivieri, Alfonso, Romano, Corrado, Romano, Leonardo, Salviati, Carmelo Damiano Salpietro, Margherita, Santucci, Emanuela, Scarano, Barbara, Scelsa, Alberto, Sensi, Marco, Seri, Sabrina, Signorini, Margherita, Silengo, Simonati, Alessandro, Fabio, Sirchia, Luigina, Spaccini, Franco, Stanzial, Gilda, Stringini, Eva, Trevisson, Antonella, Trivelli, Vera, Uliana, Graziella, Uziel, Gessica, Vasco, Marina, Vascotto, Giuseppina, Vitiello, Federica, Zibordi
Publikováno v:
Neurology, Vol. 94, no.8, p. e797-e801 (2020)
ObjectiveTo estimate the prevalence of Joubert syndrome (JS) in Italy applying standards of descriptive epidemiology and to provide a molecular characterization of the described patient cohort.MethodsWe enrolled all patients with a neuroradiologicall
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e514766fd23b3d9e1add49a06f0da0f5
http://hdl.handle.net/11577/3356044
http://hdl.handle.net/11577/3356044
Autor:
Stefania Murru, Loredana Boccone, Carmelo Rodolico, Francesco Sera, Teresa Brizzi, L. Passamano, Rossella Tupler, Simona Portaro, Luisa Politano
Publikováno v:
European Journal of Paediatric Neurology
Among 1339 unrelated cases accrued by the Italian National Registry for facioscapulohumeral muscular dystrophy (FSHD), we found three unrelated cases who presented signs of Williams-Beuren Syndrome (WBS) in early childhood and later developed FSHD. A
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7cfbd879d8ce83a7bdd16a5522a0c53b
http://hdl.handle.net/11570/3172428
http://hdl.handle.net/11570/3172428
Autor:
Enrico Premi, Adele Zoppo, Marta Manes, Laura Orsi, Donatella Caruso, Filippo Tempia, Chiara Costanzi, Daniela Perani, Alfredo Brusco, Alessandro Padovani, Antonella Alberici, Barbara Borroni, Nico Mitro, Barbara Paghera, Loredana Boccone, Eleonora Di Gregorio, Claudia Pani, Mario Grassi, Marta Ferrero, Maria Pia Pasolini
Publikováno v:
Annals of Neurology. 82:615-621
Objective Spinocerebellar ataxia 38 (SCA38) is caused by mutations in the ELOVL5 gene, which encodes an elongase involved in the synthesis of polyunsaturated fatty acids, including docosahexaenoic acid (DHA). As a consequence, DHA is significantly re
Autor:
Donatella Caruso, Lorenzo Pinessi, Alfredo Brusco, Eleonora Di Gregorio, Laura Orsi, Alessandro Padovani, Nico Mitro, Giovanna Vaula, Filippo Tempia, Barbara Borroni, Loredana Boccone, Chiara Costanzi, Marta Manes
Publikováno v:
DeckerMed Transitional Year Weekly Curriculum™.
Objectives: The aim of this study was to implement an algorithm that uses clinical, biological and genetic factors to guide levodopa dose prescriptions in Parkinson's disease (PD) patients. Methods: DNA was isolated from blood samples of 224 unrelate
Autor:
Enrico Premi, Donatella Caruso, Chiara Costanzi, Marta Ferrero, Laura Orsi, Barbara Paghera, Barbara Borroni, Maria Pia Pasolini, Nico Mitro, Filippo Tempia, Antonella Alberici, Alessando Padovani, Alfredo Brusco, Marta Manes, Eleonora Di Gregorio, Claudia Pani, Loredana Boccone
Spinocerebellar Ataxia 38 (SCA38) is caused by ELOVL5 gene mutation, with significant reduction of serum docosahexaenoic acid (DHA) levels. DHA supplementation has been proven effective at short-term follow-up. In the present paper, we evaluated long
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::950ece7e482b4b0ff682a9b8ecfeefa9
http://hdl.handle.net/2318/1694891
http://hdl.handle.net/2318/1694891
Autor:
Marta, Manes, Antonella, Alberici, Eleonora, Di Gregorio, Loredana, Boccone, Enrico, Premi, Nico, Mitro, Maria Pia, Pasolini, Claudia, Pani, Barbara, Paghera, Daniela, Perani, Laura, Orsi, Chiara, Costanzi, Marta, Ferrero, Adele, Zoppo, Filippo, Tempia, Donatella, Caruso, Mario, Grassi, Alessandro, Padovani, Alfredo, Brusco, Barbara, Borroni
Publikováno v:
Annals of neurology. 82(4)
Spinocerebellar ataxia 38 (SCA38) is caused by mutations in the ELOVL5 gene, which encodes an elongase involved in the synthesis of polyunsaturated fatty acids, including docosahexaenoic acid (DHA). As a consequence, DHA is significantly reduced in t
Publikováno v:
European Journal of Medical Genetics. 56:207-210
Allan–Herndon–Dudley syndrome (AHDS), an X linked condition, is characterized by severe intellectual disability, dysarthria, athetoid movements, muscle hypoplasia and spastic paraplegia in combination with altered TH levels, in particular, high s
Autor:
Laura Orsi, Chiara Costanzi, Donatella Caruso, Filippo Tempia, Nico Mitro, Marta Manes, Eleonora Di Gregorio, Barbara Borroni, Loredana Boccone, Lorenzo Pinessi, Alfredo Brusco, Alessandro Padovani, Giovanna Vaula
Publikováno v:
Parkinsonism & Related Disorders
Introduction SCA38 (MIM 611805) caused by mutations within the ELOVL5 gene, which encodes an enzyme involved in the synthesis of long-chain fatty acids with a high and specific expression in Purkinje cells, has recently been identified. Objective The
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5dd7c96048d62f018bbf597a408389a
http://hdl.handle.net/2318/1569517
http://hdl.handle.net/2318/1569517