Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Giorgia Piccini"'
Autor:
Stefano Vicari, Giorgia Piccini, Eugenio Mercuri, Roberta Battini, Daniela Chieffo, Sara Bulgheroni, Chiara Pecini, Simona Lucibello, Sara Lenzi, Federica Moriconi, Marika Pane, Adele D'Amico, Guja Astrea, Giovanni Baranello, Daria Riva, Giovanni Cioni, Paolo Alfieri
Publikováno v:
PLoS ONE, Vol 13, Iss 1, p e0191164 (2018)
This study aimed at comparing implicit sequence learning in individuals affected by Duchenne Muscular Dystrophy without intellectual disability and age-matched typically developing children. A modified version of the Serial Reaction Time task was adm
Externí odkaz:
https://doaj.org/article/2f6e276ddc404508bd3056f32799d195
Autor:
Giorgia Piccini, Maria Cristina Digilio, Marco Tartaglia, Stefano Vicari, Paolo Alfieri, Francesca Romana Lepri, Deny Menghini, Cristina Caciolo
Publikováno v:
Molecular Genetics & Genomic Medicine
Background Kabuki syndrome (KS) is a disorder characterized by multiple congenital anomalies affecting development and function of multiple systems. Over the years, researchers have attempted to characterize the neurobehavioral phenotype of KS in coh
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55f49f794ec7b9038f886dda898f9414
http://europepmc.org/articles/PMC6014453
http://europepmc.org/articles/PMC6014453
Autor:
Chiara Leoni, Giorgia Piccini, Cristina Caciolo, Francesca Perrino, Stefano Vicari, Patrizio Pasqualetti, Maria Cristina Digilio, Paolo Alfieri, Giuseppe Zampino, Giulia Serra, Marco Tartaglia, Serena Licchelli, Flavia Cirillo
Publikováno v:
European Journal of Paediatric Neurology. 22:170-177
Introduction Noonan syndrome (NS) is an autosomal dominant disorder characterized by short stature, skeletal and haematological/lymphatic defects, distinctive facies, cryptorchidism, and a wide spectrum of congenital heart defects. Recurrent features
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::144ed119818babb0286f209c7e644922
https://doi.org/10.1016/j.ejpn.2017.09.009
https://doi.org/10.1016/j.ejpn.2017.09.009
Autor:
Deny Menghini, Luca Buzzonetti, Giuseppe Zampino, Francesca Perrino, Annabella Salerni, Maria Pontillo, Marco Tartaglia, Cristina Caciolo, Giorgia Piccini, Stefano Vicari, Luca Mandolesi, Marco Armando, Mariagrazia Benassi, A. D'Andrea, Maria Cristina Digilio, Paolo Alfieri
Publikováno v:
Genes, Brain and Behavior. 16:627-634
Ventral and dorsal streams are visual pathways deputed to transmit information from the photoreceptors of the retina to the lateral geniculate nucleus and then to the primary visual cortex (V1). Several studies investigated whether one pathway is mor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f4643d05982823324f6786bc83f3552b
https://doi.org/10.1111/gbb.12381
https://doi.org/10.1111/gbb.12381
Autor:
Ginevra Zanni, Francesco Nicita, Federica Graziola, Giorgia Piccini, Claudio Pignata, Paolo Alfieri, Marta Nardella, Enrico Bertini, Alessandro Capuano, Emanuele Bellacchio, Gaetano Terrone
Publikováno v:
Clinical genetics. 96(2)
Heterozygous missense variants in the SPTBN2 gene, encoding the non-erythrocytic beta spectrin 2 subunit (beta-III spectrin), have been identified in autosomal dominant spinocerebellar ataxia type 5 (SCA5), a rare adult-onset neurodegenerative disord
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd4e0cf7bcf73f69d0160a4469bec2c5
https://pubmed.ncbi.nlm.nih.gov/31066025
https://pubmed.ncbi.nlm.nih.gov/31066025
Autor:
Antonio Curtoni, Lisa Pastrone, Miriam Cordovana, Alessandro Bondi, Giorgia Piccinini, Mattia Genco, Paolo Bottino, Carlotta Polizzi, Lorenza Cavallo, Narcisa Mandras, Silvia Corcione, Giorgia Montrucchio, Luca Brazzi, Cristina Costa
Publikováno v:
Microorganisms, Vol 12, Iss 7, p 1312 (2024)
Recently Candida auris has emerged as a multi-resistant fungal pathogen, with a significant clinical impact, and is able to persist for a long time on human skin and hospital environments. It is a critical issue on the WHO fungal priority list and th
Externí odkaz:
https://doaj.org/article/44583cea10d64173ae567c0be8c017c6
Autor:
Ginevra Zanni, Enrico Bertini, M.R. Barone, Marcello Niceta, V. Brankovic, Marco Tartaglia, Raffaella Cusmai, Alessandro Bruselles, Giorgia Piccini, Paolo Alfieri, Sabina Barresi
Publikováno v:
Clinical Genetics. 91:86-91
Congenital ataxias are nonprogressive neurological disorders characterized by neonatal hypotonia, developmental delay and ataxia, variably associated with intellectual disability and other neurological or extraneurological features. We performed trio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c5d4da36369a428284a1db1bcd6c8076
https://doi.org/10.1111/cge.12783
https://doi.org/10.1111/cge.12783
Autor:
Sara Lenzi, Eugenio Mercuri, Daria Riva, Stefano Vicari, Federica Moriconi, Adele D'Amico, Daniela Chieffo, Giovanni Baranello, Simona Lucibello, Sara Bulgheroni, Giorgia Piccini, Giovanni Cioni, Chiara Pecini, Guja Astrea, Paolo Alfieri, Roberta Battini, Marika Pane
Publikováno v:
PLoS ONE, Vol 13, Iss 1, p e0191164 (2018)
PLoS ONE
Università Cattolica del Sacro Cuore-IRIS
PLoS ONE
Università Cattolica del Sacro Cuore-IRIS
This study aimed at comparing implicit sequence learning in individuals affected by Duchenne Muscular Dystrophy without intellectual disability and age-matched typically developing children. A modified version of the Serial Reaction Time task was adm
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83cfa16d2f2265fb21c298fa133a1917
http://europepmc.org/articles/PMC5770044?pdf=render
http://europepmc.org/articles/PMC5770044?pdf=render
Autor:
Lore Breitenbach-Koller, Emanuele Bellacchio, Andreas Friedrich, Matteo Di Capua, Francesco Emma, Sabine M. Klauck, Stefan A. Haas, Paolo Alfieri, Giorgia Piccini, Ginevra Zanni, Thomas Karl, Sabina Barresi, Marco Cappa, Vera M. Kalscheuer, Enrico Bertini
Publikováno v:
Human Mutation
Europe PubMed Central
Europe PubMed Central
RPL10 encodes ribosomal protein L10 (uL16), a highly conserved multifunctional component of the large ribosomal subunit, involved in ribosome biogenesis and function. Using X-exome resequencing, we identified a novel missense mutation (c.191C>T; p.(A
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5a815af00bcda51426641e5a8a56a15
https://doi.org/10.1002/humu.22860
https://doi.org/10.1002/humu.22860
Autor:
Sara Lenzi, Roberta Battini, Sara Bulgheroni, D. Chieffo, Giorgia Piccini, Daria Riva, M. Pane, Chiara Pecini, F. Moriconi, Giovanni Baranello, Eugenio Mercuri, Guja Astrea, Paolo Alfieri, Stefano Vicari, Giovanni Cioni, S. Lucibello
Publikováno v:
Neuromuscular disorders : NMD. 28(2)
The aim of our prospective observational study was to assess profiles of cognitive function and a possible impairment of executive functions in a cohort of boys with Duchenne muscular dystrophy without intellectual and behavior disability. Forty Duch
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::36329b5bc0f9a39312ebc1d0b43ceea0
https://pubmed.ncbi.nlm.nih.gov/29305139
https://pubmed.ncbi.nlm.nih.gov/29305139