Zobrazeno 1 - 10
of 267
pro vyhledávání: '"L, Sciacca"'
Autor:
Camille Peron, Andrea Cavaliere, Chiara Fasano, Angelo Iannielli, Manuela Spagnolo, Andrea Legati, Maria Nicol Colombo, Ambra Rizzo, Francesca L. Sciacca, Valerio Carelli, Vania Broccoli, Costanza Lamperti, Valeria Tiranti
Publikováno v:
Stem Cell Research, Vol 77, Iss , Pp 103406- (2024)
Leber hereditary optic neuropathy (LHON) is one of the most common mitochondrial illness, causing retinal ganglion cell degeneration and central vision loss. It stems from point mutations in mitochondrial DNA (mtDNA), with key mutations being m.3460G
Externí odkaz:
https://doaj.org/article/ef6d717e79284050a843ebbd78811d1e
Autor:
Sara Hafdaoui, Claudia Ciaccio, Barbara Castellotti, Francesca L. Sciacca, Chiara Pantaleoni, Stefano D'Arrigo
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
Infantile idiopathic nystagmus (IIN) is an oculomotor disorder characterized by involuntary bilateral, periodic ocular oscillations, predominantly on the horizontal axis. X-linked IIN (XLIIN) is the most common form of congenital nystagmus, and the F
Externí odkaz:
https://doaj.org/article/24af25f031fb42cda4b7583c25f6b092
Autor:
Camille Peron, Roberta Mauceri, Angelo Iannielli, Andrea Cavaliere, Andrea Legati, Ambra Rizzo, Francesca L. Sciacca, Vania Broccoli, Valeria Tiranti
Publikováno v:
Stem Cell Research, Vol 50, Iss , Pp 102151- (2021)
Pearson marrow pancreas syndrome (PMPS) is a sporadic mitochondrial disease, resulting from the clonal expansion of a mutated mitochondrial DNA (mtDNA) molecule bearing a macro-deletion, and therefore missing essential genetic information. PMPS is ch
Externí odkaz:
https://doaj.org/article/1ecd85330db0486787a1ffd81c908580
Autor:
Camille Peron, Roberta Mauceri, Tommaso Cabassi, Alice Segnali, Alessandra Maresca, Angelo Iannielli, Ambra Rizzo, Francesca L. Sciacca, Vania Broccoli, Valerio Carelli, Valeria Tiranti
Publikováno v:
Stem Cell Research, Vol 48, Iss , Pp 101939- (2020)
Leber’s Hereditary Optic Neuropathy (LHON) is a maternally inherited disorder caused by homoplasmic mutations of mitochondrial DNA (mtDNA). LHON is characterized by the selective degeneration of the retinal ganglion cells (RGC). Almost all LHON mat
Externí odkaz:
https://doaj.org/article/44ae5fd09fa54f248c15c90512760a54
Autor:
Francesca L. Sciacca, Claudia Ciaccio, Federica Fontana, Camilla Strano, Francesca Gilardoni, Chiara Pantaleoni, Stefano D’Arrigo
Publikováno v:
Frontiers in Genetics, Vol 11 (2020)
Homozygous and compound heterozygous mutations in GNB5 gene have been associated with a wide spectrum of clinical presentations, ranging from neurodevelopmental issues with or without cardiac arrhythmia (LADCI) to severe developmental delay with epil
Externí odkaz:
https://doaj.org/article/0d5642eb0c884dc1b2430e749c28bd2a
Autor:
Laura Canafoglia, Federica Zibordi, Francesco Deleo, Gionata Strigaro, Claudia Varrasi, Claudia Ciaccio, Nardo Nardocci, Ferruccio Panzica, Silvana Franceschetti, Francesca L. Sciacca
Publikováno v:
European Journal of Paediatric Neurology. 44:25-27
Autor:
C. Meossi, A. Carrer, C. Ciaccio, M. Estienne, R. Silipigni, F. L. Sciacca, C. Pantaleoni, S. D'Arrigo, D. Milani
Publikováno v:
Journal of Intellectual Disability Research.
Autor:
A. Natalicchio, M. Montagnani, M. Gallo, N. Marrano, A. Faggiano, M.C. Zatelli, R. Mazzilli, A. Argentiero, R. Danesi, S. D’Oronzo, S. Fogli, D. Giuffrida, S. Gori, A. Ragni, V. Renzelli, A. Russo, T. Franchina, E. Tuveri, L. Sciacca, M. Monami, G. Cirino, G. Di Cianni, A. Colao, A. Avogaro, S. Cinieri, N. Silvestris, F. Giorgino
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56e3879a980ea25b0cec710d6a54f6bf
https://hdl.handle.net/20.500.11769/564330
https://hdl.handle.net/20.500.11769/564330
Autor:
Stefano D'Arrigo, Chiara Pantaleoni, Claudia Ciaccio, Donatella Milani, Enrico Alfei, Francesca L. Sciacca, Laura Canafoglia, Alessandra Erbetta
Publikováno v:
American Journal of Medical Genetics Part A. 182:2317-2324
Potocki-Lupski syndrome is a condition mainly characterized by infantile hypotonia, developmental delay/intellectual disability (DD/ID), and congenital anomalies, caused by duplications of the 17p11.2 region, encompassing RAI1 gene. Its clinical pres
Autor:
R Ferrarese, M Brivio, T Congiu, P Falabella, A Grimaldi, M Mastore, G Perletti, F Pennacchio, L Sciacca, G Tettamanti, R Valvassori, M de Eguileor
Publikováno v:
Invertebrate Survival Journal, Vol 2, Iss 1, Pp 60-68 (2005)
Toxoneuron nigriceps is an endophagous parasitoid of larval stages of the noctuid moth Heliothisvirescens. As all parasitoids, this wasp avoid host immune reaction by a combination of several passiveand active mechanisms. Secretions injected by ovipo
Externí odkaz:
https://doaj.org/article/1d840ff7a4cd45bda9293ddc90689d68