Zobrazeno 1 - 10
of 484
pro vyhledávání: '"Harding, AE"'
Autor:
Harding Ae, Richard C. Trembath, Mary G. Sweeney, Willie Reardon, Linda M. Luxon, Richard J. Ross, Marcus Pembrey
Publikováno v:
The Lancet. 340:1376-1379
Family studies of diabetes mellitus (DM) show that patients are more likely to have affected mothers than affected fathers. Since the inheritance of mitochondrial (mtDNA), unlike nuclear DNA, is exclusively maternal, could it be that defect(s) in mtD
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bdc8ba194fb04f8456651ad0788da32a
https://doi.org/10.1016/0140-6736(92)92560-3
https://doi.org/10.1016/0140-6736(92)92560-3
Autor:
Chamberlain, S, Farrall, M, Shaw, J, Wilkes, D, Carvajal, J, Hillerman, R, Doudney, K, Harding, AE, Williamson, R, Sirugo, G, Fujita,R, Koenig,M, Mandel, J, Palau,F, Monros,E, Vilchez,J, Prieto,F, Richter, A, Vanasse, M, Melancon, S, Redolfi, E, Cavalcanti, F, Pianese, L, Filla, A, DiDonato,S, Pandolfo M., COCOZZA, SERGIO
Publikováno v:
Europe PubMed Central
The absence of recombination between the mutation causing Friedreich ataxia and the two loci which originally assigned the disease locus to chromosome 9 has slowed attempts to isolate and characterize the genetic defect underlying this neurodegenerat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::939a7c37cd113db11d7baa562befe82d
http://hdl.handle.net/11588/464286
http://hdl.handle.net/11588/464286
Autor:
Jodice, C., Malaspina, P., Persichetti, F., Novelletto, A., Spadaro, M., Paola Giunti, Morocutti, C., Terrenato, L., Harding, Ae, Frontali, M.
Publikováno v:
ResearcherID
Trinucleotide repeat expansion has been found in 64 subjects from 19 families: 57 patients with SCA1 and 7 subjects predicted, by haplotype analysis, to carry the mutation. Comparison with a large set of normal chromosomes shows two distinct distribu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::5230b8a355990f5dc702e7e7a04f44ad
https://europepmc.org/articles/PMC1918191/
https://europepmc.org/articles/PMC1918191/
Autor:
Harding Ae
Publikováno v:
Seminars in neurology. 13(4)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b0ac453a6d02ca6ee8e75ea898746a4
https://pubmed.ncbi.nlm.nih.gov/8146482
https://pubmed.ncbi.nlm.nih.gov/8146482
Autor:
E D Playford, Peter Leigh, David J. Brooks, Ibanez, R.S. Kocen, Harding Ae, G. V. Sawle, C. D. Marsden
Publikováno v:
Annals of neurology. 30(2)
Using [18F]dopa, [11C]raclopride, C15O2, and positron emission tomography, we have assessed striatal dopamine storage capacity, dopamine D2-receptor integrity, and regional cerebral blood flow, respectively, of 6 patients with neuroacanthocytosis. Th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::950dbe88e915ace437c1517b8f16bff7
https://pubmed.ncbi.nlm.nih.gov/1897909
https://pubmed.ncbi.nlm.nih.gov/1897909
Publikováno v:
Biochemical Society transactions. 18(4)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eda9e1c43bd895e6db3979abcb24e2ce
https://pubmed.ncbi.nlm.nih.gov/2276423
https://pubmed.ncbi.nlm.nih.gov/2276423
Akademický článek
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Autor:
Lawrence, AD, Weeks, RA, Brooks, DJ, Andrews, TC, Watkins, LHA, Harding, AE, Robbins, TW, Sahakian, BJ
Publikováno v:
Brain: A Journal of Neurology; Jul1998, Vol. 121 Issue 7, p1343-1355, 13p
Publikováno v:
Brain: A Journal of Neurology; Feb1998, Vol. 121 Issue 2, p357-372, 16p