| Tetrahydrobiopterin biosynthesis, regeneration and functions B Thöny, G Auerbach, N Blau Biochemical Journal 347 (1), 1-16, 2000 | 1045 | 2000 |
| Tetrahydrobiopterin: biochemistry and pathophysiology E Werner, N Blau, B Thöny Biochemical Journal 438, 397–414, 2011 | 499 | 2011 |
| Treatment of a metabolic liver disease by in vivo genome base editing in adult mice L Villiger, HM Grisch-Chan, H Lindsay, F Ringnalda, CB Pogliano, ... Nature medicine 24 (10), 1519-1525, 2018 | 387 | 2018 |
| Epidermal H2O2 accumulation alters tetrahydrobiopterin (6BH4) recycling in vitiligo: identification of a general mechanism in regulation of all 6BH4-dependent processes? KU Schallreuter, J Moore, JM Wood, WD Beazley, EMJ Peters, LK Marles, ... Journal of investigative dermatology 116 (1), 167-174, 2001 | 360 | 2001 |
| Reviews of evidence regarding interventions to reduce tobacco use and exposure to environmental tobacco smoke DP Hopkins, PA Briss, CJ Ricard, CG Husten, VG Carande-Kulis, ... American journal of preventive medicine 20 (2), 16-66, 2001 | 335 | 2001 |
| Disorders of Tetrahydrobiopterin and Rerated Biogenic Amines N Blau The metabolic & molecular bases of inherited disease, 1725-1776, 2002 | 301 | 2002 |
| Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia L Bonafé, B Thöny, JM Penzien, B Czarnecki, N Blau The American Journal of Human Genetics 69 (2), 269-277, 2001 | 267 | 2001 |
| Influence of early stress on social abilities and serotonergic functions across generations in mice TB Franklin, N Linder, H Russig, B Thöny, IM Mansuy PloS one 6 (7), e21842, 2011 | 250 | 2011 |
| Molecular genetics of tetrahydrobiopterin‐responsive phenylalanine hydroxylase deficiency MR Zurflüh, J Zschocke, M Lindner, F Feillet, C Chery, A Burlina, ... Human mutation 29 (1), 167-175, 2008 | 246 | 2008 |
| In vivo adenine base editing of PCSK9 in macaques reduces LDL cholesterol levels T Rothgangl, MK Dennis, PJC Lin, R Oka, D Witzigmann, L Villiger, W Qi, ... Nature biotechnology 39 (8), 949-957, 2021 | 236 | 2021 |
| Mutations in the BH4‐metabolizing genes GTP cyclohydrolase I, 6‐pyruvoyl‐tetrahydropterin synthase, sepiapterin reductase, carbinolamine‐4a‐dehydratase, and … B Thöny, N Blau Human mutation 27 (9), 870-878, 2006 | 232 | 2006 |
| The− 24/− 12 promoter comes of age B Thöny, H Hennecke FEMS microbiology reviews 5 (4), 341-357, 1989 | 232 | 1989 |
| Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: diagnosis and genetics of dopa-responsive dystonia and sepiapterin reductase deficiency N Blau, L Bonafé, B Thöny Molecular genetics and metabolism 74 (1-2), 172-185, 2001 | 220 | 2001 |
| The genetic landscape and epidemiology of phenylketonuria A Hillert, Y Anikster, A Belanger-Quintana, A Burlina, BK Burton, ... The American Journal of Human Genetics 107 (2), 234-250, 2020 | 209 | 2020 |
| Concurrent evolution of nitrogenase genes and 16S rRNA in Rhizobium species and other nitrogen fixing bacteria H Hennecke, K Kaluza, B Thöny, M Fuhrmann, W Ludwig, E Stackebrandt Archives of Microbiology 142, 342-348, 1985 | 195 | 1985 |
| Identification of pharmacological chaperones as potential therapeutic agents to treat phenylketonuria AL Pey, M Ying, N Cremades, A Velazquez-Campoy, T Scherer, B Thöny, ... The Journal of clinical investigation 118 (8), 2858-2867, 2008 | 191 | 2008 |
| Transcriptional activation of promoters of the superoxide and multiple antibiotic resistance regulons by Rob, a binding protein of the Escherichia coli origin of chromosomal … KW Jair, X Yu, K Skarstad, B Thöny, N Fujita, A Ishihama, RE Wolf Jr Journal of bacteriology 178 (9), 2507-2513, 1996 | 164 | 1996 |
| Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy J Friedman, E Roze, JE Abdenur, R Chang, S Gasperini, V Saletti, ... Annals of neurology 71 (4), 520-530, 2012 | 157 | 2012 |
| Biallelic mutations in DNAJC12 cause hyperphenylalaninemia, dystonia, and intellectual disability Y Anikster, TB Haack, T Vilboux, B Pode-Shakked, B Thöny, N Shen, ... The American Journal of Human Genetics 100 (2), 257-266, 2017 | 153 | 2017 |
| Regulation of tetrahydrobiopterin biosynthesis by shear stress JD Widder, W Chen, L Li, S Dikalov, B Thöny, K Hatakeyama, ... Circulation research 101 (8), 830-838, 2007 | 140 | 2007 |
Aurora MartinezProfessor ved University of Bergen在 uib.no 的电子邮件经过验证
