Zobrazeno 1 - 10
of 53
pro vyhledávání: '"M T, Dotti"'
Publikováno v:
Journal of Lipid Research, Vol 38, Iss 11, Pp 2322-2334 (1997)
We report the characterization of eight mutations of sterol 27-hydroxylase gene (CYP27) in five Italian patients with cerebrotendinous xanthomatosis, who were found to be compound heterozygotes. Four mutations (C –> T at nt 45 of exon 4, G(+1) –>
Externí odkaz:
https://doaj.org/article/f25b8e59d81d454ea269a9609be231fc
Publikováno v:
Journal of Lipid Research, Vol 37, Iss 10, Pp 2193-2201 (1996)
Urinary excretion of mevalonic acid was investigated as an indicator of cholesterol synthesis. In normolipemic volunteers, excretion of mevalonic acid averaged 3.51 +/- 0.59 (SD) micrograms/kg x day1; (n = 24) and was not different from patients with
Externí odkaz:
https://doaj.org/article/bc413289e6b44bd5a77cbe0f29e9b4b9
Publikováno v:
Journal of Lipid Research, Vol 37, Iss 3, Pp 662-672 (1996)
An Italian subject with cerebrotendinous xanthomatosis (CTX) was found to have a partial deletion of the gene encoding the enzyme sterol 27-hydroxylase (CYP27 gene). Southern blot analysis revealed that this deletion (approximately 2 kb) spans from i
Externí odkaz:
https://doaj.org/article/5e4b696fd3084d96b7a21928f384d38b
Autor:
R Garuti, N Lelli, M Barozzini, R Tiozzo, M T Dotti, A Federico, A M Ottomano, A Croce, S Bertolini, S Calandra
Publikováno v:
Journal of Lipid Research, Vol 37, Iss 7, Pp 1459-1467 (1996)
Cerebrotendinous xanthomatosis (CTX) is an inherited sterol storage disease associated with the accumulation of cholestanol and cholesterol in various tissues. CTX is caused by a deficiency of sterol-27-hydroxylase, a mitochondrial enzyme that oxidiz
Externí odkaz:
https://doaj.org/article/933fcc557e984d829efcde124186f2a0
Autor:
Elisa Boschetti, R. De Giorgio, Giovanna Cenacchi, Carla Giordano, Giuseppe Plazzi, Michio Hirano, Piero Parchi, Caterina Tonon, David Neil Manners, Fiorella Giancola, Roberto D'Angelo, Maria Lucia Valentino, Loris Pironi, Laura Ludovica Gramegna, Carlo Casali, Raffaele Lodi, Rita Rinaldi, Valerio Carelli, Leonardo Caporali, M. T. Dotti, Mariantonietta Capristo, Annalinda Pisano, Claudia Testa
Publikováno v:
AJNR Am J Neuroradiol
BACKGROUND AND PURPOSE: Mitochondrial neurogastrointestinal encephalopathy is a rare disorder due to recessive mutations in the thymidine phosphorylase gene, encoding thymidine phosphorylase protein required for mitochondrial DNA replication. Clinica
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::750addbbc19cdf891e21b2abe15a40fe
https://doi.org/10.3174/ajnr.a5507
https://doi.org/10.3174/ajnr.a5507
Autor:
A, Perfetti, S, Greco, R, Cardani, B, Fossati, G, Cuomo, R, Valaperta, F, Ambrogi, A, Cortese, A, Botta, A, Mignarri, M, Santoro, C, Gaetano, E, Costa, M T, Dotti, G, Silvestri, R, Massa, G, Meola, F, Martelli
Publikováno v:
Scientific Reports
Non-invasive and simple to measure biomarkers are still an unmet need for myotonic dystrophy type 1 (DM1). Indeed, muscle biopsies can be extremely informative, but their invasive nature limits their application. Extracellular microRNAs are emerging
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d56a3b8d8bd923ac15bec5c29a3ae23
http://europepmc.org/articles/PMC5320479
http://europepmc.org/articles/PMC5320479
Autor:
Klaus Schmierer, Masami Shizuka, Antonio Federico, Jens Volkmann, Carlos Singer, Mitchell F. Brin, R Dengler, G Sorrentino, Meiner, Jan O. Aasly, Saeed Bohlega, Guy A. Rouleau, Nicolas Dupré, Y Ikeda, Nicholas W. Wood, IR Caballero, BI Karp, Sylvain Chouinard, FC Mercado, P. C. Trevisol-Bittencourt, Paul Maddison, Andrea H. Németh, Igor Sibon, J Arpa, Anthony P. Monaco, Lev G. Goldfarb, Mitsunori Watanabe, A Storch, M. T. Dotti, LP Hiersemenzel, S Johnson, Adrian Danek, R M Chalmers, G Geraud, M Tanaka, RJ Hardie, Luca Rampoldi, A J Lees, Alexander Lossos, Saidi A Mohiddin, Lameh Fananapazir, Massimo Zeviani, Carol Dobson-Stone, Alan Fryer
Chorea-acanthocytosis (ChAc) is an autosomal recessive neurological disorder whose characteristic features include hyperkinetic movements and abnormal red blood cell morphology. Mutations in the CHAC gene on 9q21 were recently found to cause chorea-a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b604f79ba9ee6e640b9f9de2a752807f
https://ora.ox.ac.uk/objects/uuid:3b1ebcfc-3452-49c2-9bc1-df31e1cc6ccb
https://ora.ox.ac.uk/objects/uuid:3b1ebcfc-3452-49c2-9bc1-df31e1cc6ccb
Autor:
Simona Greco, Gabriella Silvestri, Andrea Cortese, M. T. Dotti, Federico Ambrogi, Annalisa Botta, Barbara Fossati, Massimo Santoro, Roberto Massa, Rea Valaperta, Carlo Gaetano, Elena Costa, Fabio Martelli, A. Mignarri, Giovanni Meola, Alessandra Perfetti, Rosanna Cardani, G. Cuomo
Non-invasive and simple to measure biomarkers are still an unmet need for myotonic dystrophy type 1 (DM1). Indeed, muscle biopsies can be extremely informative, but their invasive nature limits their application. Extracellular microRNAs are emerging
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24ba28db74cf9da85dc8c0c8d1a8fa70
http://hdl.handle.net/11365/1007058
http://hdl.handle.net/11365/1007058
Autor:
Francesca Rosini, Fabio Giannini, R. Buccoliero, Antonio Federico, M. T. Dotti, Elena Pretegiani, Alfonso Cerase, Alessandra Rufa
Publikováno v:
International Journal of Neuroscience. 121:201-208
Wernicke encephalopathy (WE) is a neurological emergency due to thiamine deficiency. We aimed to identify clinical course and causes of diagnostic delay or failure of WE in a group of patients who underwent surgery for gastrointestinal tumors. A retr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be780c584ce73a2d75eb8c0aa19118f1
https://doi.org/10.3109/00207454.2010.544430
https://doi.org/10.3109/00207454.2010.544430
Autor:
P. Da Pozzo, M. T. Dotti, Elena Cardaioli, Alessandra Rufa, Andrea Mignarri, Gian Nicola Gallus, Antonio Federico
Publikováno v:
European Journal of Neurology. 17:1259-1262
Background and purpose: Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disease, because of sterol 27-hydroxylase deficiency. Clinical manifestations of CTX are tendon xanthomas, juvenile cataracts, osteoporosis, diarrhoea and mult
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::41b51fc10903ec85640b0643a0e97699
https://doi.org/10.1111/j.1468-1331.2010.03002.x
https://doi.org/10.1111/j.1468-1331.2010.03002.x