Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Laura Ciccarelli"'
Autor:
Tomas R. Burke, Robert K. Koenekoop, Caroline C W Klaver, Alfonso Baldi, F. P. M. Cremers, Jana Zernant, Alessandro Iannaccone, Radha Ayyagari, Carl Schubert, Allison C. Umfress, R. T. Smith, Rando Allikmets, Maria Laura Ciccarelli, Stephen H. Tsang, Gerald A. Fishman
Publikováno v:
Investigative Ophthalmology and Visual Science, 53, 8, pp. 4458-67
Investigative Ophthalmology and Visual Science, 53, 4458-67
Investigative Ophthalmology & Visual Science, 53(8), 4458-4467. Association for Research in Vision and Ophthalmology Inc.
Investigative Ophthalmology and Visual Science, 53, 4458-67
Investigative Ophthalmology & Visual Science, 53(8), 4458-4467. Association for Research in Vision and Ophthalmology Inc.
PURPOSE. We evaluated the pathogenicity of the G1961E mutation in the ABCA4 gene, and present the range of retinal phenotypes associated with this mutation in homozygosity in a patient cohort with ABCA4-associated phenotypes. METHODS. Patients were e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e82931f8f6a340c8e0918b8a1b60271
https://doi.org/10.1167/iovs.11-9166
https://doi.org/10.1167/iovs.11-9166
Autor:
Susan Lindsay, Sarah Guthrie, Binoy Appukuttan, Long Cheng, Michelle Cheung, Elizabeth R. Young, J. Timothy Stout, Alfonso Baldi, Dominic Davenport, Noriko Miyake, Jim Allen, Moira Crosier, Maria Laura Ciccarelli, Mustafa Sahin, Mara Campioni, Wai-Man Chan, Maria Psatha, Alessandro Iannaccone, Stephen P. Christiansen, Nick J. Gutowski, Caroline Andrews, John K. Chilton, Elizabeth C. Engle, Laura E. Mariani, Sian Ellard, Juan Carlos Zenteno, Krystal Law
Publikováno v:
Science. 321:839-843
Duane's retraction syndrome (DRS) is a complex congenital eye movement disorder caused by aberrant innervation of the extraocular muscles by axons of brainstem motor neurons. Studying families with a variant form of the disorder (DURS2-DRS), we have
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9de67912c8c148d1039b8df8600873c
https://doi.org/10.1126/science.1156121
https://doi.org/10.1126/science.1156121
Autor:
Francesco Vespignani, Laura Ciccarelli, Alessandro Angrilli, Marica De Vincenzi, Remo Job, Rosalia Di Matteo, Barbara Penolazzi
Publikováno v:
Brain and Language. 85:280-296
A reading time and an ERP experiment conducted in Italian investigated the parser's responses to a syntactic violation (subject-verb number agreement) and to a semantic violation (subject-verb selectional restriction), examining the time course of co
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea74b199a1256ffc23c972881124774c
https://doi.org/10.1016/s0093-934x(03)00055-5
https://doi.org/10.1016/s0093-934x(03)00055-5
Autor:
Jacque L. Duncan, Niamh B. Stover, Sharon B. Schwartz, Mohammad Othman, Barbara J. Jennings, K. Thiran Jayasundera, Richard G. Weleber, Alessandro Iannaccone, Karmen M Trzupek, Paul A. Sieving, Samuel G. Jacobson, John R. Heckenlively, Matthew Brumm, Sten Andréasson, Richard A. Lewis, Maria Laura Ciccarelli, Beverly M. Yashar, Kari Branham, Jean Bennett, Dianna K H Wheaton, Gerald A. Fishman, David G. Birch, Pelin Atmaca-Sonmez, Anand Swaroop, Athanasios J. Karoukis
Publikováno v:
Investigative ophthalmology & visual science, vol 53, iss 13
PURPOSE. To determine the proportion of male patients presenting simplex retinal degenerative disease (RD: retinitis pigmentosa [RP] or cone/cone-rod dystrophy [COD/CORD]) with mutations in the X-linked retinal degeneration genes RPGR and RP2. METHOD
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b5ab545ef75fe898736dd04e69c37fe
https://escholarship.org/uc/item/4hv0g66m
https://escholarship.org/uc/item/4hv0g66m
Autor:
Sara Cantone, Loris Sinigoi, Lisa Vaccari, Laura Ciccarelli, Alessandra Basso, Paola Bravin, Nicola D'Amelio, Cynthia Ebert, Lucia Gardossi
Publikováno v:
Journal of combinatorial chemistry. 11(5)
Porous and rigid methacrylic Synbeads were optimized and applied efficiently to the solid phase peptide synthesis with the objective of improving significantly volumetric yields (0.33 mol/L calculated on the basis of maximum chemical accessibility, i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a86f896944f75094cd9c31b048aad9c
https://pubmed.ncbi.nlm.nih.gov/19594112
https://pubmed.ncbi.nlm.nih.gov/19594112
Autor:
Monica M. Jablonski, Beverly M. Yashar, Maria Laura Ciccarelli, Marco Mura, Radha Ayyagari, Alessandro Iannaccone, Frank M. Dyka, Robert S. Molday
Publikováno v:
Università degli studi di Ferrara-IRIS
Vision research, 46(22), 3845-3852. Elsevier Limited
Vision research, 46(22), 3845-3852. Elsevier Limited
A 52-year-old subject harboring an RS1 gene W112C mutation presented with a prominent and asymmetric tapetal-like retinal sheen. Transient ERG responses were smaller and slower in the eye with the more extensive sheen, an association that, to our kno
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5782fed48d38915683a00157dc98745
http://hdl.handle.net/11392/2482001
http://hdl.handle.net/11392/2482001
Autor:
Marica De Vincenzi, Alessandro Angrilli, Remo Job, Laura Ciccarelli, Barbara Penolazzi, Francesco Vespignani, Luciano Stegagno, Daniela Palomba
Publikováno v:
Neuroscience letters. 322(1)
The present experiment investigated cortical responses of native Italian subjects during reading of short sentences including semantic or morphosyntactic violations. Given the specificity of the Italian language in which the sequencing of words is re
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b330b7c0cc9d995357baa2894aade492
https://pubmed.ncbi.nlm.nih.gov/11958830
https://pubmed.ncbi.nlm.nih.gov/11958830