Zobrazeno 1 - 10
of 50
pro vyhledávání: '"Eleonora Di Gregorio"'
Autor:
Cecilia Mancini, Eriola Hoxha, Luisa Iommarini, Alessandro Brussino, Uwe Richter, Francesca Montarolo, Claudia Cagnoli, Roberta Parolisi, Diana Iulia Gondor Morosini, Valentina Nicolò, Francesca Maltecca, Luisa Muratori, Giulia Ronchi, Stefano Geuna, Francesca Arnaboldi, Elena Donetti, Elisa Giorgio, Simona Cavalieri, Eleonora Di Gregorio, Elisa Pozzi, Marta Ferrero, Evelise Riberi, Giorgio Casari, Fiorella Altruda, Emilia Turco, Giuseppe Gasparre, Brendan J. Battersby, Anna Maria Porcelli, Enza Ferrero, Alfredo Brusco, Filippo Tempia
Publikováno v:
Neurobiology of Disease, Vol 124, Iss , Pp 14-28 (2019)
Spinocerebellar ataxia 28 is an autosomal dominant neurodegenerative disorder caused by missense mutations affecting the proteolytic domain of AFG3L2, a major component of the mitochondrial m-AAA protease. However, little is known of the underlying p
Externí odkaz:
https://doaj.org/article/fb3744284a404bcf85efa0b2b018e6b8
Autor:
Slavica Trajkova, Eleonora Di Gregorio, Giovanni Battista Ferrero, Diana Carli, Lisa Pavinato, Geoffroy Delplancq, Paul Kuentz, Alfredo Brusco
Publikováno v:
Brain Sciences, Vol 10, Iss 11, p 788 (2020)
Potocki-Shaffer syndrome (PSS) is a rare non-recurrent contiguous gene deletion syndrome involving chromosome 11p11.2. Current literature implies a minimal region with haploinsufficiency of three genes, ALX4 (parietal foramina), EXT2 (multiple exosto
Externí odkaz:
https://doaj.org/article/201bad60a79a48afbfa42430bbd52181
Autor:
Eriola Hoxha, Rebecca M. C. Gabriele, Ilaria Balbo, Francesco Ravera, Linda Masante, Vanessa Zambelli, Cristian Albergo, Nico Mitro, Donatella Caruso, Eleonora Di Gregorio, Alfredo Brusco, Barbara Borroni, Filippo Tempia
Publikováno v:
Frontiers in Cellular Neuroscience, Vol 11 (2017)
Spino-Cerebellar-Ataxia type 38 (SCA38) is caused by missense mutations in the very long chain fatty acid elongase 5 gene, ELOVL5. The main clinical findings in this disease are ataxia, hyposmia and cerebellar atrophy. Mice in which Elovl5 has been k
Externí odkaz:
https://doaj.org/article/49ac35d9b569416e840809dd53c27fd4
Autor:
Laura Cristina Gironi, Enrico Colombo, Alfredo Brusco, Enrico Grosso, Valeria Giorgia Naretto, Andrea Guala, Eleonora Di Gregorio, Andrea Zonta, Francesca Zottarelli, Barbara Pasini, Paola Savoia
Publikováno v:
Medicina, Vol 55, Iss 7, p 345 (2019)
Congenital sensorineural hearing loss may occur in association with inborn pigmentary defects of the iris, hair, and skin. These conditions, named auditory-pigmentary disorders (APDs), represent extremely heterogeneous hereditary diseases, including
Externí odkaz:
https://doaj.org/article/b36900bdc03f47079cb26bc7924ce4f0
Autor:
Giorgia Mandrile, Eleonora Di Gregorio, Alessandro Calcia, Alessandro Brussino, Enrico Grosso, Elisa Savin, Daniela Francesca Giachino, Alfredo Brusco
Publikováno v:
Case Reports in Genetics, Vol 2014 (2014)
A recently described genetic disorder has been associated with 13q12.3 microdeletion spanning three genes, namely, KATNAL1, LINC00426, and HMGB1. Here, we report a new case with similar clinical features that we have followed from birth to 5 years ol
Externí odkaz:
https://doaj.org/article/eaaf2417387b4a28a6975a17b4675cf9
Autor:
Maria Clara Bonaglia, Roberto Giorda, Silvana Beri, Cristina De Agostini, Francesca Novara, Marco Fichera, Lucia Grillo, Ornella Galesi, Annalisa Vetro, Roberto Ciccone, Maria Teresa Bonati, Sabrina Giglio, Renzo Guerrini, Sara Osimani, Susan Marelli, Claudio Zucca, Rita Grasso, Renato Borgatti, Elisa Mani, Cristina Motta, Massimo Molteni, Corrado Romano, Donatella Greco, Santina Reitano, Anna Baroncini, Elisabetta Lapi, Antonella Cecconi, Giulia Arrigo, Maria Grazia Patricelli, Chiara Pantaleoni, Stefano D'Arrigo, Daria Riva, Francesca Sciacca, Bernardo Dalla Bernardina, Leonardo Zoccante, Francesca Darra, Cristiano Termine, Emanuela Maserati, Stefania Bigoni, Emanuela Priolo, Armand Bottani, Stefania Gimelli, Frederique Bena, Alfredo Brusco, Eleonora di Gregorio, Irene Bagnasco, Ursula Giussani, Lucio Nitsch, Pierluigi Politi, Maria Luisa Martinez-Frias, Maria Luisa Martínez-Fernández, Nieves Martínez Guardia, Anna Bremer, Britt-Marie Anderlid, Orsetta Zuffardi
Publikováno v:
PLoS Genetics, Vol 7, Iss 7, p e1002173 (2011)
In this study, we used deletions at 22q13, which represent a substantial source of human pathology (Phelan/McDermid syndrome), as a model for investigating the molecular mechanisms of terminal deletions that are currently poorly understood. We charac
Externí odkaz:
https://doaj.org/article/5c43355a53914e768e4abdfa928036cf
Autor:
Amy Hardcastle, Aliska M. Berry, Ian M. Campbell, Xiaonan Zhao, Pengfei Liu, Amanda E. Gerard, Jill A. Rosenfeld, Saumya D. Sisoudiya, Andres Hernandez‐Garcia, Sara Loddo, Silvia Di Tommaso, Antonio Novelli, Maria L. Dentici, Rossella Capolino, Maria C. Digilio, Ludovico Graziani, Cecilie F. Rustad, Katherine Neas, Giovanni B. Ferrero, Alfredo Brusco, Eleonora Di Gregorio, Diana Wellesley, Claire Beneteau, Madeleine Joubert, Kris Van Den Bogaert, Anneleen Boogaerts, Dominic J. McMullan, John Dean, Maria G. Giuffrida, Laura Bernardini, Vinod Varghese, Nora L. Shannon, Rachel E. Harrison, Wayne W. K. Lam, Shane McKee, Peter D. Turnpenny, Trevor Cole, Jenny Morton, Jacqueline Eason, Marilyn C. Jones, Rebecca Hall, Michael Wright, Karen Horridge, Chad A. Shaw, Wendy K. Chung, Daryl A. Scott
Publikováno v:
American Journal of Medical Genetics Part A. 188:2958-2968
Congenital diaphragmatic hernia (CDH) can occur in isolation or in conjunction with other birth defects (CDH+). A molecular etiology can only be identified in a subset of CDH cases. This is due, in part, to an incomplete understanding of the genes th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ff6c6c10bf462c0911cb2f912bb59f1
https://doi.org/10.1002/ajmg.a.62919
https://doi.org/10.1002/ajmg.a.62919
Autor:
Enza Ferrero, Eleonora Di Gregorio, Marta Ferrero, Erika Ortolan, Young-Ah Moon, Antonella Di Campli, Lisa Pavinato, Cecilia Mancini, Debasmita Tripathy, Marta Manes, Eriola Hoxha, Chiara Costanzi, Elisa Pozzi, Matteo Rossi Sebastiano, Nico Mitro, Filippo Tempia, Donatella Caruso, Barbara Borroni, Manuela Basso, Michele Sallese, Alfredo Brusco
Fatty acid elongase ELOVL5 is part of a protein family of multipass transmembrane proteins that reside in the endoplasmic reticulum where they regulate long-chain fatty acid elongation. A missense variant (c.689G > T p.Gly230Val) in ELOVL5 causes Spi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f91e8071f8c8ed9a156ba4239a4c896
https://hdl.handle.net/2318/1904432
https://hdl.handle.net/2318/1904432
Akademický článek
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Autor:
Laura Palmer Mackay, Valeria Giorgia Naretto, Daryl A. Scott, Lorraine Potocki, Andres Hernandez-Garcia, Eleonora Di Gregorio, Alfredo Brusco, Yoel Gofin, Keren Machol, Sundeep G. Keswani
Publikováno v:
Am J Med Genet A
Fibroblast growth factor receptor-like 1 (FGFRL1) encodes a transmembrane protein that is related to fibroblast growth factor receptors but lacks an intercellular tyrosine kinase domain. in vitro studies suggest that FGFRL1 inhibits cell proliferatio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b04e92c9a629bf757784b628fb5bc1db
http://hdl.handle.net/2318/1789644
http://hdl.handle.net/2318/1789644