Zobrazeno 1 - 9 of 9 pro vyhledávání: '"Maria Paola Perini"'
1
Leigh Disease: Clinical, Neuroradiologic, and Biochemical Study of Three New Cases With Cytochrome c Oxidase Deficiency
Autor: Roberto Rossoni, Felice Rognoni, Assuero Lupi, Maria Paola Perini, Sandra Strazzer, Giacomo P. Comi, Salvatore Savasta
Publikováno v: Scopus-Elsevier
Three cases of Leigh disease are described. In all three, symptoms began in the first months of life, with muscle hypotonia, lactic acidosis, and psychomotor delay. The diagnosis was made on the basis of the clinical characteristics, biochemical abno
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67d86c64af538a70abf8898c0a62896c
https://doi.org/10.1177/088307380101600816
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2
Iron release and oxidant damage in human myoblasts by divicine
Autor: Marco Ferrali, Gianfranca Aluigi, Maria Paola Perini, Nereo Bresolin, Paolino Ninfali, Alfonso Pompella, Caterina Cambiaggi
Publikováno v: Life sciences. 66(6)
Divicine is an aglycone derived from vicine, a glucosidic compound contained in fava beans (Vicia faba major or broad beans). In this study, we investigated the effect of divicine on cultured human myoblasts from normal subjects, in order to see if t
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4bca45a5f516913b7d0e4838d9aba3ec
https://pubmed.ncbi.nlm.nih.gov/10794072
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3
Characterization of SURF-1 expression and Surf-1p function in normal and disease conditions
Autor: Leo G.J. Nijtmans, Maria Paola Perini, Massimo Zeviani, Valeria Tiranti, Silvia Bovolenta, Claudia Galimberti
Publikováno v: Human Molecular Genetics, 8, 2533-2540. Oxford University Press
Loss-of-function mutations of the SURF-1 gene have been associated with Leigh syndrome with cytochrome c oxidase (COX) deficiency. Mature Surf-1 protein (Surf-1p) is a 30 kDa hydrophobic polypeptide whose function is still unknown. Using antibodies a
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::130de2e686c8148ba6ea4acdf78405f2
http://hdl.handle.net/11577/3354492
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7
A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome
Autor: Ida Biunno, Isabella Moroni, Maria Paola Perini, Sara Galbiati, Marco Crimi, Giacomo P. Comi, Maurizio Moggio, M. Sciacco, Eleonora Lamantea, Massimo Zeviani, Guglielmo Scarlato, Andreina Bordoni
Publikováno v: Scopus-Elsevier
A 13084 A->T missense mutation in the mitochondrial ND5 gene was identified in a 16-year-old boy affected with a progressive neurodegenerative disorder combining features of Leigh and MELAS (mitochondrial encephalomyopathy, lactic acidosis, and strok
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32cef7a993fee9eae170a88f55cb2d86
http://www.scopus.com/inward/record.url?eid=2-s2.0-10744223599&partnerID=MN8TOARS
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9
A mitochondrial tRNAHis gene mutation causing pigmentary retinopathy and neurosensorial deafness
Autor: Ida Biunno, Susanna Galbiati, Andreina Bordoni, Giulia Malferrari, Sandra Strazzer, M. Sciacco, Nereo Bresolin, Marco Crimi, Giacomo P. Comi, Maurizio Moggio, Maria Paola Perini
Publikováno v: Scopus-Elsevier
We have identified a heteroplasmic G to A mutation at position 12,183 of the mitochondrial transfer RNA Histidine (tRNA(His)) gene in three related patients. These phenotypes varied according to mutation heteroplasmy: one had severe pigmentary retino
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d425d959b5a8c632044fd3b4d5201bb4
http://www.scopus.com/inward/record.url?eid=2-s2.0-0037426432&partnerID=MN8TOARS
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