Članki z zahtevami za javni dostop - Nuoffer Jean-MarcVeč o tem
Ni na voljo nikjer: 5
Fatal hyperammonemia and carbamoyl phosphate synthetase 1 (CPS1) deficiency following high-dose chemotherapy and autologous hematopoietic stem cell transplantation
A Laemmle, D Hahn, L Hu, V Rüfenacht, M Gautschi, K Leibundgut, ...
Molecular genetics and metabolism 114 (3), 438-444, 2015
Zahteve: Swiss National Science Foundation
Neuropeptide Y modulates steroid production of human adrenal H295R cells through Y1 receptors
P Kempná, M Körner, B Waser, G Hofer, JM Nuoffer, JC Reubi, CE Flück
Molecular and cellular endocrinology 314 (1), 101-109, 2010
Zahteve: Swiss National Science Foundation
Paroxysmal and non-paroxysmal dystonia in 3 patients with biallelic ECHS1 variants: Expanding the neurological spectrum and therapeutic approaches
S Illsinger, GC Korenke, S Boesch, M Nocker, D Karall, JM Nuoffer, ...
European journal of medical genetics 63 (11), 104046, 2020
Zahteve: US National Institutes of Health, European Commission, Federal Ministry of …
Comprehensive characterization of ureagenesis in the spfash mouse, a model of human ornithine transcarbamylase deficiency, reveals age‐dependency of …
G Allegri, S Deplazes, N Rimann, B Causton, T Scherer, JW Leff, ...
Journal of inherited metabolic disease 42 (6), 1064-1076, 2019
Zahteve: Swiss National Science Foundation
Metabolic stability of cells for extended metabolomical measurements using NMR. A comparison between lysed and additionally heat inactivated cells
G Diserens, D Hertig, M Vermathen, B Legeza, CE Flück, JM Nuoffer, ...
Analyst 142 (3), 465-471, 2017
Zahteve: Swiss National Science Foundation
Na voljo nekje: 46
Neutrophil extracellular trap formation requires OPA1-dependent glycolytic ATP production
P Amini, D Stojkov, A Felser, CB Jackson, C Courage, A Schaller, ...
Nature communications 9 (1), 2958, 2018
Zahteve: Swiss National Science Foundation
Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2-and L-2-hydroxyglutaric aciduria
B Nota, EA Struys, A Pop, EE Jansen, MRF Ojeda, WA Kanhai, ...
The American Journal of Human Genetics 92 (4), 627-631, 2013
Zahteve: US National Institutes of Health
Deficiency of ECHS 1 causes mitochondrial encephalopathy with cardiac involvement
TB Haack, CB Jackson, K Murayama, LS Kremer, A Schaller, ...
Annals of clinical and translational neurology 2 (5), 492-509, 2015
Zahteve: Austrian Science Fund, German Research Foundation, UK Medical Research …
Metformin inhibits human androgen production by regulating steroidogenic enzymes HSD3B2 and CYP17A1 and complex I activity of the respiratory chain
A Hirsch, D Hahn, P Kempná, G Hofer, JM Nuoffer, PE Mullis, CE Flück
Endocrinology 153 (9), 4354-4366, 2012
Zahteve: Swiss National Science Foundation
Cross-sectional observational study of 208 patients with non-classical urea cycle disorders
CM Rüegger, M Lindner, D Ballhausen, MR Baumgartner, S Beblo, A Das, ...
Journal of inherited metabolic disease 37, 21-30, 2014
Zahteve: Swiss National Science Foundation
Mitochondrial physiology
C Gourlay
bioenergetic communications 1 (1), 1-44, 2020
Zahteve: European Commission
A guideline for the diagnosis of pediatric mitochondrial disease: the value of muscle and skin biopsies in the genetics era
SB Wortmann, JA Mayr, JM Nuoffer, H Prokisch, W Sperl
Neuropediatrics 48 (04), 309-314, 2017
Zahteve: Austrian Science Fund
Frequency and pathophysiology of acute liver failure in ornithine transcarbamylase deficiency (OTCD)
A Laemmle, RC Gallagher, A Keogh, T Stricker, M Gautschi, JM Nuoffer, ...
PLoS One 11 (4), e0153358, 2016
Zahteve: Swiss National Science Foundation, US National Institutes of Health
Mutations and Polymorphisms in the Human Argininosuccinate Lyase (ASL) Gene
C Balmer, AV Pandey, V Rüfenacht, JM Nuoffer, P Fang, LJ Wong, ...
Human mutation 35 (1), 27-35, 2014
Zahteve: Swiss National Science Foundation
SDHA mutation with dominant transmission results in complex II deficiency with ocular, cardiac, and neurologic involvement
C Courage, CB Jackson, D Hahn, L Euro, JM Nuoffer, S Gallati, A Schaller
American Journal of Medical Genetics Part A 173 (1), 225-230, 2017
Zahteve: Swiss National Science Foundation
A variant in MRPS14 (uS14m) causes perinatal hypertrophic cardiomyopathy with neonatal lactic acidosis, growth retardation, dysmorphic features and …
CB Jackson, M Huemer, R Bolognini, F Martin, G Szinnai, BC Donner, ...
Human molecular genetics 28 (4), 639-649, 2019
Zahteve: Swiss National Science Foundation, Academy of Finland
Exercise attenuates the transition from fatty liver to steatohepatitis and reduces tumor formation in mice
M Guarino, P Kumar, A Felser, LM Terracciano, S Guixé-Muntet, B Humar, ...
Cancers 12 (6), 1407, 2020
Zahteve: Swiss National Science Foundation
An overview of combined D‐2‐and L‐2‐hydroxyglutaric aciduria: Functional analysis of CIC variants
A Pop, M Williams, EA Struys, M Monné, EEW Jansen, A De Grassi, ...
Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2018
Zahteve: Fondazione Telethon, Italy, Government of Italy
Effects of silica nanoparticle exposure on mitochondrial function during neuronal differentiation
AD Ducray, A Felser, J Zielinski, A Bittner, JV Bürgi, JM Nuoffer, M Frenz, ...
Journal of nanobiotechnology 15, 1-14, 2017
Zahteve: Swiss National Science Foundation
Targeting lactate dehydrogenase B-dependent mitochondrial metabolism affects tumor initiating cells and inhibits tumorigenesis of non-small cell lung cancer by inducing mtDNA …
H Deng, Y Gao, V Trappetti, D Hertig, D Karatkevich, T Losmanova, C Urzi, ...
Cellular and Molecular Life Sciences 79 (8), 445, 2022
Zahteve: Swiss National Science Foundation, Swiss Cancer Foundation, Swiss Cancer League
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