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pro vyhledávání: '"S. Dimauro"'
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Akademický článek
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Autor:
John Vissing, Ronald G. Haller, H. Orhan Akman, Stephen G. Kahler, Carlos A. Bacino, S. DiMauro, Jan Aasly
Publikováno v:
Neurology. 91(11)
ObjectiveTo study the variable clinical picture and exercise tolerance of patients with phosphoglycerate kinase (PGK) 1 deficiency and how it relates to residual PGK enzyme activity.MethodsIn this case series study, we evaluated 7 boys and men from 5
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be66ebdda2b679a84bddda8922e4ba45
https://pubmed.ncbi.nlm.nih.gov/30111548
https://pubmed.ncbi.nlm.nih.gov/30111548
Publikováno v:
Journal of Neurology, Neurosurgery & Psychiatry. 86:363-365
[Graphic][1] Like so many complex and incurable neurological disorders, the disease first described in this journal in 1951 by (Archibald) Denis Leigh (1915–1998; figure 1) as ‘Subacute Necrotising Encephalomyelopathy’ (SNE)1 remained for many
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::dbc8bba8dde024ca44eff04219a51b24
https://doi.org/10.1136/jnnp-2012-304601
https://doi.org/10.1136/jnnp-2012-304601
Autor:
Maaike de Vries, David C. Samuels, Bianca J.C. van den Bosch, Douglass M. Turnbull, Angela Abicht, Elke Holinski-Feder, Ireneus F. M. de Coo, Gavin Hudson, Rita Horvath, Hanns Lochmüller, Bart W. Smits, Anne Lombès, Laurence A. Bindoff, Robert W. Taylor, Michio Hirano, Vivienne C.M. Neeve, Bianca-Cortina Keiling, S. DiMauro, Jan A.M. Smeitink, Hubert J.M. Smeets, Carsten Saft, Thomas Klopstock, G. Gorman, Gert Van Goethem, Birgit Czermin, Claude Jardel, Patrick F. Chinnery
Publikováno v:
Brain, 135, 3614-26
Brain, 135, Pt 12, pp. 3614-26
Brain, 135, 3614-3626. Oxford University Press
Brain
Brain, 135(12), 3614-3626. Oxford University Press
Brain, 135, Pt 12, pp. 3614-26
Brain, 135, 3614-3626. Oxford University Press
Brain
Brain, 135(12), 3614-3626. Oxford University Press
Item does not contain fulltext Polymerase-gamma (POLG) is a major human disease gene and may account for up to 25% of all mitochondrial diseases in the UK and in Italy. To date, >150 different pathogenic mutations have been described in POLG. Some mu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e86a14fb203538bd4f9cdcdfbb7632e
https://doi.org/10.1093/brain/aws298
https://doi.org/10.1093/brain/aws298
Publikováno v:
DMW - Deutsche Medizinische Wochenschrift. 108:1058-1061
Deficiency in carnitine-palmityl-transferase (CPT) was demonstrated in a 20-year-old man with paroxysmal myoglobinuria, after failure to discover another cause. It is concluded that muscular CPT deficiency must be excluded before a recurrent myoglobi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::520e2602a4e98a91e04112edf4031c0e
https://doi.org/10.1055/s-2008-1069692
https://doi.org/10.1055/s-2008-1069692
Autor:
S. Dimauro, F A Kallfelz, Stephen C. Barr, Robin R. Wakshlag, Daryl V. Nydam, Barry J. Cooper, Joseph J. Wakshlag
Publikováno v:
American Journal of Veterinary Research. 65:480-484
Objective—To perform respiratory chain enzymatic activity assays on canine skeletal muscle biopsy specimens and establish reference range values of skeletal muscle enzyme activities for dogs. Sample Population—Biopsy specimens from the vastus lat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7abeb7f611ac77f4a04cd2bc90b462df
https://doi.org/10.2460/ajvr.2004.65.480
https://doi.org/10.2460/ajvr.2004.65.480
Publikováno v:
Neurology. 58:1282-1285
A 42-year-old woman presented with myopathy and without a family history of neuromuscular disorder. Muscle biopsy showed ragged red fibers and reduced activities of mitochondrial respiratory chain enzyme complexes I, III, and IV. Analysis of mitochon
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c5222a522a5de51ac5d451c891ff56f4
https://doi.org/10.1212/wnl.58.8.1282
https://doi.org/10.1212/wnl.58.8.1282