Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Fulvio, D'Abrusco"'
Autor:
Michal, Gafner, Eugen, Boltshauser, Fulvio, D'Abrusco, Roberta, Battini, Romina, Romaniello, Stefano, D'Arrigo, Ginevra, Zanni, Zvi, Leibovitz, Keren, Yosovich, Tally, Lerman-Sagie, Francesco, Nicita
Publikováno v:
Developmental Medicine & Child Neurology. 65:544-550
To assess whether microcephaly with pontine and cerebellar hypoplasia (MICPCH) could manifest in the prenatal period in patients with calcium/calmodulin-dependent serine protein kinase (CASK) gene disorders.In this international multicentre retrospec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac8a236e360171e7c02d7b1819771680
https://doi.org/10.1111/dmcn.15419
https://doi.org/10.1111/dmcn.15419
Autor:
Romina, Romaniello, Ludovica, Pasca, Elena, Panzeri, Fulvio, D'Abrusco, Lorena, Travaglini, Valentina, Serpieri, Sabrina, Signorini, Chiara, Aiello, Enrico, Bertini, Maria Teresa, Bassi, Enza Maria, Valente, Ginevra, Zanni, Renato, Borgatti, Filippo, Arrigoni
Publikováno v:
International journal of molecular sciences. 23(12)
The inositol 1,4,5-triphosphate receptor type 1 (
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a5c4c64d4729e062f7a29c0ab2f8af37
https://pubmed.ncbi.nlm.nih.gov/35743164
https://pubmed.ncbi.nlm.nih.gov/35743164
Autor:
Valentina Serpieri, Giulia Mortarini, Hailey Loucks, Tommaso Biagini, Alessia Micalizzi, Ilaria Palmieri, Jennifer C Dempsey, Fulvio D’Abrusco, Concetta Mazzotta, Roberta Battini, Enrico Silvio Bertini, Eugen Boltshauser, Renato Borgatti, Knut Brockmann, Stefano D'Arrigo, Nardo Nardocci, Rita Fischetto, Emanuele Agolini, Antonio Novelli, Alfonso Romano, Romina Romaniello, Franco Stanzial, Sabrina Signorini, Pietro Strisciuglio, Simone Gana, Tommaso Mazza, Dan Doherty, Enza Maria Valente
Publikováno v:
Journal of Medical Genetics. :jmedgenet-2022
BackgroundJoubert syndrome (JS) is a neurodevelopmental ciliopathy characterised by a distinctive mid-hindbrain malformation, the ‘molar tooth sign’. Over 40 JS-associated genes are known, accounting for two-thirds of cases.MethodsWhile most vari
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::691ac43d5d20cbb52c03d3920d7b3347
https://doi.org/10.1136/jmg-2022-108725
https://doi.org/10.1136/jmg-2022-108725
Autor:
Romina Romaniello, Renato Borgatti, Lorenzo Pinelli, Elena Panzeri, Bosanka Jocic-Jakubi, Filippo Arrigoni, Filippo Manti, Caterina Caputi, Anna Pichiecchio, Andrea Righini, Valentina Serpieri, Elisabetta Lucarelli, Maria Clara Bonaglia, Enza Maria Valente, Vincenzo Leuzzi, Luisa Chiapparini, Fulvio D’Abrusco
Publikováno v:
Cerebellum (London, England). 21(6)
Joubert syndrome (JS) is a recessively inherited ciliopathy, characterized by a specific cerebellar and brainstem malformation recognizable on brain imaging as the "molar tooth sign" (MTS). Clinical signs include hypotonia, developmental delay, breat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b9a3ed979b354272077ea509b2d592c
https://pubmed.ncbi.nlm.nih.gov/34846692
https://pubmed.ncbi.nlm.nih.gov/34846692
Autor:
R Ciccone, Francesco Corrente, M Tosi, Rita Carsetti, Ginevra Zanni, M Motta, Simona Cascioli, Enza Maria Valente, Gessica Vasco, Fulvio D’Abrusco, Enrico Bertini, Valentina Serpieri, Francesco Nicita
Publikováno v:
Cerebellum (London, England). 21(4)
The glycophosphatidylinositol (GPI) anchor pathway plays an essential role in posttranslational modification of proteins to facilitate proper membrane anchoring and trafficking to lipid rafts, which is critical for many cell functions, including embr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff7f355939232bdac812aa8c13041fbe
https://pubmed.ncbi.nlm.nih.gov/34089469
https://pubmed.ncbi.nlm.nih.gov/34089469
Autor:
Valentina, Serpieri, Fulvio, D'Abrusco, Jennifer C, Dempsey, Yong-Han Hank, Cheng, Filippo, Arrigoni, Janice, Baker, Roberta, Battini, Enrico Silvio, Bertini, Renato, Borgatti, Angela K, Christman, Cynthia, Curry, Stefano, D'Arrigo, Joel, Fluss, Michael, Freilinger, Simone, Gana, Gisele E, Ishak, Vincenzo, Leuzzi, Hailey, Loucks, Filippo, Manti, Nancy, Mendelsohn, Laura, Merlini, Caitlin V, Miller, Ansar, Muhammad, Sara, Nuovo, Romina, Romaniello, Wolfgang, Schmidt, Sabrina, Signorini, Sabrina, Siliquini, Krzysztof, Szczałuba, Gessica, Vasco, Meredith, Wilson, Ginevra, Zanni, Eugen, Boltshauser, Dan, Doherty, Enza Maria, Valente, X, Zhang
Publikováno v:
Journal of medical genetics, vol. 59, no. 9, pp. 888-894
BackgroundJoubert syndrome (JS) is a recessively inherited ciliopathy characterised by congenital ocular motor apraxia (COMA), developmental delay (DD), intellectual disability, ataxia, multiorgan involvement, and a unique cerebellar and brainstem ma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc739ec43b16294432e6c486a220ed30
http://hdl.handle.net/11573/1582161
http://hdl.handle.net/11573/1582161
Autor:
Romina Romaniello, Ludovica Pasca, Elena Panzeri, Fulvio D’Abrusco, Lorena Travaglini, Valentina Serpieri, Sabrina Signorini, Chiara Aiello, Enrico Bertini, Maria Teresa Bassi, Enza Maria Valente, Ginevra Zanni, Renato Borgatti, Filippo Arrigoni
Publikováno v:
International Journal of Molecular Sciences; Volume 23; Issue 12; Pages: 6723
The inositol 1,4,5-triphosphate receptor type 1 (ITPR1) gene encodes an InsP3-gated calcium channel that modulates intracellular Ca2+ release and is particularly expressed in cerebellar Purkinje cells. Pathogenic variants in the ITPR1 gene are associ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7678be5579647462f2c18bb356c7c27
https://doi.org/10.3390/ijms23126723
https://doi.org/10.3390/ijms23126723