Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Emanuela Scimonelli"'
Autor:
Chiara La Morgia, Alessandra Maresca, Giulia Amore, Laura Ludovica Gramegna, Michele Carbonelli, Emanuela Scimonelli, Alberto Danese, Simone Patergnani, Leonardo Caporali, Francesca Tagliavini, Valentina Del Dotto, Mariantonietta Capristo, Federico Sadun, Piero Barboni, Giacomo Savini, Stefania Evangelisti, Claudio Bianchini, Maria Lucia Valentino, Rocco Liguori, Caterina Tonon, Carlotta Giorgi, Paolo Pinton, Raffaele Lodi, Valerio Carelli
Publikováno v:
Scientific Reports, Vol 10, Iss 1, Pp 1-2 (2020)
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
Externí odkaz:
https://doaj.org/article/582a9e2b930d4e9eacb4ded0e1f93ba0
Autor:
Susan Mohamed, Mirko Zaffagnini, Elena Antelmi, Luca Morandi, Leonardo Caporali, Mariantonietta Capristo, Valentina Del Dotto, Roberto Riva, Emanuela Scimonelli, Paola Loguercio Polosa, Giuseppe Plazzi, Claudia Zanna, Martina Cappelletti, Francesco Musiani, Rocco Liguori, Concetta Valentina Tropeano, Francesca Tagliavini, Jacopo Rossi, Valerio Carelli, Chiara La Morgia, Manuela Contin, Emmanuel Mignot, Alessandra Maresca, Marina Roberti, Letizia Scandiffio, Fabio Pizza
Publikováno v:
Human Molecular Genetics
ADCA-DN and HSN-IE are rare neurodegenerative syndromes caused by dominant mutations in the replication foci targeting sequence (RFTS) of the DNA methyltransferase 1 (DNMT1) gene. Both phenotypes resemble mitochondrial disorders, and mitochondrial dy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2997307a2405da8ace73941dddb96fa7
http://hdl.handle.net/11585/736144
http://hdl.handle.net/11585/736144
Autor:
Stefania Evangelisti, Paolo Pinton, Leonardo Caporali, Valentina Del Dotto, Rocco Liguori, Emanuela Scimonelli, Giacomo Savini, Federico Sadun, Michele Carbonelli, Mariantonietta Capristo, Alessandra Maresca, Giulia Amore, Carlotta Giorgi, Simone Patergnani, Caterina Tonon, Maria Lucia Valentino, Claudio Bianchini, Laura Ludovica Gramegna, Raffaele Lodi, Francesca Tagliavini, Alberto Danese, Piero Barboni, Valerio Carelli, Chiara La Morgia
Publikováno v:
Scientific Reports
Scientific Reports, Vol 10, Iss 1, Pp 1-15 (2020)
Scientific Reports, Vol 10, Iss 1, Pp 1-15 (2020)
Wolfram syndrome (WS) is a recessive multisystem disorder defined by the association of diabetes mellitus and optic atrophy, reminiscent of mitochondrial diseases. The role played by mitochondria remains elusive, with contradictory results on the occ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55cfe75bfc559aab334534a4f621cd74
http://hdl.handle.net/11585/752754
http://hdl.handle.net/11585/752754
Autor:
Emanuela Scimonelli, Alberto Danese, Francesca Tagliavini, Laura Ludovica Gramegna, Carlotta Giorgi, Simone Patergnani, Raffaele Lodi, Valerio Carelli, Paolo Pinton, Chiara La Morgia, Caterina Tonon, Leonardo Caporali, Mariantonietta Capristo, Stefania Evangelisti, Giulia Amore, Maria Lucia Valentino, Piero Barboni, Valentina Del Dotto, Giacomo Savini, Claudio Bianchini, Michele Carbonelli, Rocco Liguori, Alessandra Maresca, Federico Sadun
Publikováno v:
Scientific Reports, Vol 10, Iss 1, Pp 1-2 (2020)
An amendment to this paper has been published and can be accessed via a link at the top of the paper.