Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Vanessa Capone"'
Autor:
Emanuela Clemente, Konstantinos Efthymakis, Erminia Carletti, Vanessa Capone, Samantha Sperduti, Giuseppina Bologna, Marco Marchisio, Marta Di Nicola, Matteo Neri, Michele Sallese
Publikováno v:
PLoS ONE, Vol 14, Iss 12, p e0226478 (2019)
Non-celiac wheat sensitivity (NCWS), also referred to as non-celiac gluten sensitivity, is a recently described disorder triggered by wheat/gluten ingestion. NCWS elicits a wide range of symptoms including diarrhoea, intestinal discomfort, and fatigu
Externí odkaz:
https://doaj.org/article/69b2dac1962a4824b193c54cafe509a6
Autor:
Roberto Chiesa, Laura Pietrangelo, Francesca Ornaghi, Emanuela Clemente, Feliciano Protasi, Samantha Sperduti, Vanessa Capone, Michele Sallese, Antonella Di Campli, Elena Restelli
Publikováno v:
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1864:3164-3180
Loss-of-function mutations in the SIL1 gene are linked to Marinesco-Sjogren syndrome (MSS), a rare multisystem disease of infancy characterized by cerebellar and skeletal muscle degeneration. SIL1 is a ubiquitous adenine nucleotide exchange factor fo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0604b41dedaa167a711254900d4a4d9b
https://doi.org/10.1016/j.bbadis.2018.07.003
https://doi.org/10.1016/j.bbadis.2018.07.003
Autor:
Liliana Comerio, Vanessa Capone, Valentina Grande, Michele Sallese, Francesca Ornaghi, Jeffrey M. Axten, Fabio Fiordaliso, Roberto Chiesa, Nicholas J. Laping, Daniele Tolomeo, Alessandro Corbelli, Antonio Masone, Elena Restelli
Publikováno v:
Human Molecular Genetics. 27:2477-2489
Marinesco-Sjögren syndrome (MSS) is a rare, early onset, autosomal recessive multisystem disorder characterized by cerebellar ataxia, cataracts and myopathy. Most MSS cases are caused by loss-of-function mutations in the gene encoding SIL1, a nucleo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::884ae91cdf092fccbde7f359adfa4a19
https://doi.org/10.1093/hmg/ddy152
https://doi.org/10.1093/hmg/ddy152
Autor:
Michele Sallese, Marta Di Nicola, Marco Marchisio, Matteo Neri, Giuseppina Bologna, Vanessa Capone, Konstantinos Efthymakis, Samantha Sperduti, Erminia Carletti, Emanuela Clemente
Publikováno v:
PLoS ONE, Vol 14, Iss 12, p e0226478 (2019)
PLoS ONE
PLoS ONE
Non-celiac wheat sensitivity (NCWS), also referred to as non-celiac gluten sensitivity, is a recently described disorder triggered by wheat/gluten ingestion. NCWS elicits a wide range of symptoms including diarrhoea, intestinal discomfort, and fatigu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a630f3849fdfc8d550b336ff21a0621b
https://doaj.org/article/69b2dac1962a4824b193c54cafe509a6
https://doaj.org/article/69b2dac1962a4824b193c54cafe509a6
Autor:
Elena Quaglio, Vanessa Capone, Vladimiro Artuso, Fabio Fiordaliso, Ignazio Roiter, Davide Ortolan, Michele Sallese, Alessandro Corbelli, Galina V. Beznoussenko, Elena Restelli, Manuela Pozzoli, Roberto Chiesa
Publikováno v:
The Journal of Biological Chemistry
Fatal familial insomnia (FFI), genetic Creutzfeldt–Jakob disease (gCJD), and Gerstmann–Sträussler–Scheinker (GSS) syndrome are neurodegenerative disorders linked to prion protein (PrP) mutations. The pathogenic mechanisms are not known, but in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d3782460cda7c20d4fd5164939fecf2
https://doi.org/10.1016/j.jbc.2021.100490
https://doi.org/10.1016/j.jbc.2021.100490
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