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Hofer Doris |
** = Publications listed in SCI/SSCI/Pubmed
2018
Abstract (Journal)
** Duta-Mare, M; Sachdev, V; Leopold, C; Kolb, D; Vujic, N; Korbelius, M; Hofer, D; Xia, W; Huber, K; Magnes, C; Radovic, B; Bogner-Strauss, J; Kratky, D
LYSOSOMAL ACID LIPASE REGULATES FATTY ACID CHANNELING IN BROWN ADIPOSE TISSUE TO MAINTAIN THERMOGENESIS
ATHEROSCLEROSIS. 2018; 275: E15-E15.-86th Congress of the European-Atherosclerosis-Society (EAS); MAY 05-08, 2018; Lisbon, PORTUGAL.
Doi: 10.1016/j.atherosclerosis.2018.06.927
[Oral Communication]
Web of Science
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2014
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** Plecko, B; Paul, K; Mills, P; Clayton, P; Paschke, E; Maier, O; Hasselmann, O; Schmiedel, G; Kanz, S; Connolly, M; Wolf, N; Struys, E; Stockler, S; Abela, L; Hofer, D
Pyridoxine responsiveness in novel mutations of the PNPO gene.
Neurology. 2014; 82(16):1425-1433
Doi: 10.1212/WNL.0000000000000344
[OPEN ACCESS]
Web of Science
PubMed
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2010
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** Fantur, K; Hofer, D; Schitter, G; Steiner, AJ; Pabst, BM; Wrodnigg, TM; Stütz, AE; Paschke, E
DLHex-DGJ, a novel derivative of 1-deoxygalactonojirimycin with pharmacological chaperone activity in human G(M1)-gangliosidosis fibroblasts.
Mol Genet Metab. 2010; 100(3):262-268
Doi: 10.1016/j.ymgme.2010.03.019
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** Hofer, D; Paul, K; Fantur, K; Beck, M; Roubergue, A; Vellodi, A; Poorthuis, BJ; Michelakakis, H; Plecko, B; Paschke, E
Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations.
Clin Genet. 2010; 78(3):236-246
Doi: 10.1111/j.1399-0004.2010.01379.x
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2009
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** Hofer, D; Paul, K; Fantur, K; Beck, M; Burger, F; Caillaud, C; Fumic, K; Ledvinova, J; Lugowska, A; Michelakakis, H; Radeva, B; Ramaswami, U; Plecko, B; Paschke, E
GM1 Gangliosidosis and Morquio B Disease: Expression Analysis of Missense Mutations Affecting the Catalytic Site of Acid beta-Galactosidase
HUM MUTAT. 2009; 30(8): 1214-1221.
Doi: 10.1002/humu.21031
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2008
Abstract (Journal)
** Paschke, E; Hofer, D; Fantur, K; Paul, K; Morrone, A; d'Azzo, A
Expression analysis in cos-1 cells of missense alleles of the glb1 (acid beta-galactosidase) gene with presumptive influence on catalytical enzyme function.
J INHERIT METAB DIS. 2008; 31: 126-126.-Annual Symposium of the Society for the Study of Inborn Errors of Metabolism ; SEP 2-5, 2008; Lisboa, Portugal.
Web of Science
2007
Full paper/article (Journal)
** Rosker, C; Lohberger, B; Hofer, D; Steinecker, B; Quasthoff, S; Schreibmayer, W
The TTX metabolite 4,9-anhydro-TTX is a highly specific blocker of the Na(v1.6) voltage-dependent sodium channel.
Am J Physiol Cell Physiol. 2007; 293(2): C783-C789.
Doi: 10.1152/ajpcell.00070.2007
[OPEN ACCESS]
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2006
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** Hofer, D; Lohberger, B; Steinecker, B; Schmidt, K; Quasthoff, S; Schreibmayer, W
A comparative study of the action of tolperisone on seven different voltage dependent sodium channel isoforms.
EUR J PHARMACOL. 2006; 538(1-3): 5-14.
Doi: 10.1016/j.ejphar.2006.03.034
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2004
Abstract (Journal)
** Hofer, D; Lohberger, B; Steinecker-Frohnwieser, B; Schreibmayer, W
A comparative study of the action of tolperison on different voltage dependent sodium channel isoforms.
BIOPHYS J 2004 86: 118A-118A.
Web of Science
2003
Full paper/article (Journal)
** Quasthoff, S; Pojer, C; Mori, A; Hofer, D; Liebmann, P; Kieseier, BC; Schreibmayer, W
No blocking effects of the pentapeptide QYNAD on Na+ channel subtypes expressed in Xenopus oocytes or action potential conduction in isolated rat sural nerve.
Neurosci Lett. 2003; 352(2):93-96
Doi: 10.1016/S0304-3940(03)01014-0
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