Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Margalida A. Frau-Méndez"'
Autor:
Margalida A. Frau-Méndez, Belén Ansoleaga, Franc Llorens, Isidro Ferrer, José Antonio del Río, Inga Zerr, Juan J. Zarranz, Rosa Blanco Tech, Iván Fernández-Vega, Margarita Carmona Tech
Publikováno v:
Brain Pathology. 27:95-106
The expression of subunits of mitochondrial respiratory complexes and components of the protein synthesis machinery from the nucleolus to the ribosome was analyzed in the mediodorsal thalamus in seven cases of fatal familial insomnia (FFI) compared w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::53953d99e80effdd6331223364e43e5e
https://doi.org/10.1111/bpa.12408
https://doi.org/10.1111/bpa.12408
Autor:
Franc Llorens, Juan J. Zarranz, Margalida A. Frau-Méndez, Isidro Ferrer, Iván Fernández-Vega, Katrin Thüne, Inga Zerr, Nadine Gotzmann, Christopher J. Silva, Belén Ansoleaga, Matthias Schmitz, Maria Cramm, Margarita Carmona, Waqas Tahir, Sara Berjaoui
Publikováno v:
Human molecular genetics 25(12), ddw108 (2016). doi:10.1093/hmg/ddw108
Europe PubMed Central
Scopus-Elsevier
Europe PubMed Central
Scopus-Elsevier
Fatal familial insomnia is a rare disease caused by a D178N mutation in combination with methionine (Met) at codon 129 in the mutated allele of PRNP (D178N-129M haplotype). FFI is manifested by sleep disturbances with insomnia, autonomic disorders an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d1b6be2c33573d45377a546579e5810
https://pub.dzne.de/record/139013
https://pub.dzne.de/record/139013
