Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Ilaria Fanelli"'
Autor:
Rodolfo Tonin, Federica Feo, Silvia Falliano, Laura Giunti, Martino Calamai, Elena Procopio, Francesco Mari, Vittorio Sciruicchio, Valerio Conti, Ilaria Fanelli, Franco Bambi, Renzo Guerrini, Amelia Morrone
Publikováno v:
Stem Cell Research, Vol 77, Iss , Pp 103431- (2024)
GM3 synthase deficiency (GM3SD) is caused by biallelic variants in the ST3GAL5 gene. Early clinical features of GM3SD include infantile onset of severe irritability and feeding difficulties, early intractable seizures, growth failure, hypotonia, sens
Externí odkaz:
https://doaj.org/article/f55c916b36d54a0a9baf8df4d10baad8
Autor:
Rodolfo Tonin, Federica Feo, Silvia Falliano, Lorenzo Ferri, Laura Giunti, Martino Calamai, Elena Procopio, Francesco Mari, Valerio Conti, Ilaria Fanelli, Franco Bambi, Renzo Guerrini, Amelia Morrone
Publikováno v:
Stem Cell Research, Vol 73, Iss , Pp 103235- (2023)
Congenital Disorders of Glycosylation (CDG) are rare inherited metabolic diseases caused by genetic defects in the glycosylation of proteins and lipids. In this study, we describe the generation and characterization of one human induced pluripotent s
Externí odkaz:
https://doaj.org/article/53d7ad05752f4e0c94076074d801115b
Autor:
Nicole Hartwig Trier, Niccolo Valdarnini, Ilaria Fanelli, Paolo Rovero, Paul Robert Hansen, Claus Schafer-Nielsen, Evaldas Ciplys, Rimantas Slibinskas, Flemming Pociot, Tina Friis, Gunnar Houen
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 8, p 4424 (2022)
Two isoforms of the glutamate decarboxylase (GAD) enzyme exist, GAD65 and GAD67, which are associated with type 1 diabetes (T1D) and stiff-person syndrome (SPS), respectively. Interestingly, it has been reported that T1D patients seldom develop SPS,
Externí odkaz:
https://doaj.org/article/6bb111ad79b54c279d559b26a90c32e5
Autor:
Ilaria Fanelli, Paolo Rovero, Paul Robert Hansen, Jette Lautrup Frederiksen, Gunnar Houen, Nicole Hartwig Trier
Publikováno v:
Antibodies, Vol 11, Iss 1, p 20 (2022)
Rheumatoid arthritis (RA) is a chronic disease which causes joint inflammation and, ultimately, erosion of the underlying bone. Diagnosis of RA is based on the presence of biomarkers, such as anti-citrullinated protein antibodies (ACPA) and rheumatoi
Externí odkaz:
https://doaj.org/article/23de4dbc84154de9a009bf5d00216fb4
Autor:
Ilaria Fanelli, Paolo Rovero, Paul Robert Hansen, Jette Frederiksen, Gunnar Houen, Nicole Hartwig Trier
Publikováno v:
Antibodies, Vol 10, Iss 3, p 27 (2021)
Rheumatoid arthritis (RA) is an autoimmune disease affecting approximately 1–2% of the world population. In addition to the first discovered serologic markers for RA, the rheumatoid factors (RFs), anti-citrullinated protein antibodies (ACPAs) are e
Externí odkaz:
https://doaj.org/article/b0d8626de9cb4f43b5c94f8d77233ebf