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49 results for Nuoffer,+Jean-Marc

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Specific GAG ratios in the diagnosis of mucopolysaccharidoses
Author / Creator:Mathis, Déborah ; Prost, Jean‐Christophe ; Maeder, Gabriela ; Arackal, Liya ; Zhang, Haoyue ; Kurth, Sandra ; Freiburghaus, Katrin ; Nuoffer, Jean‐Marc
Publisher:Hoboken, USA: John Wiley & Sons, Inc
Journal title:JIMD reports, 2024-03, Vol.65 (2), p.116-123
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Early‐onset leukoencephalomyelopathy due to a biallelic NDUFV1 variant in a mid‐forties patient
Author / Creator:Gschwind, Markus ; Garcia Segarra, Nuria ; Schaller, André ; Bolognini, Ramona ; Nuoffer, Jean‐Marc ; Hourez, Raphael ; Deprez, Manuel ; Lhermitte, Benoit ; Maeder, Philippe ; Tran, Christel ; Kuntzer, Thierry
Publisher:United States: John Wiley & Sons, Inc
Journal title:Annals of clinical and translational neurology, 2022-06, Vol.9 (6), p.888-892
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Neutrophil extracellular trap formation requires OPA1-dependent glycolytic ATP production
Author / Creator:Amini, Poorya ; Stojkov, Darko ; Felser, Andrea ; Jackson, Christopher B. ; Courage, Carolina ; Schaller, André ; Gelman, Laurent ; Soriano, Maria Eugenia ; Nuoffer, Jean-Marc ; Scorrano, Luca ; Benarafa, Charaf ; Yousefi, Shida ; Simon, Hans-Uwe
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2018-07, Vol.9 (1), p.2958-16, Article 2958
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PPAR-γ regulates the effector function of human T helper 9 cells by promoting glycolysis
Author / Creator:Bertschi, Nicole L. ; Steck, Oliver ; Luther, Fabian ; Bazzini, Cecilia ; von Meyenn, Leonhard ; Schärli, Stefanie ; Vallone, Angela ; Felser, Andrea ; Keller, Irene ; Friedli, Olivier ; Freigang, Stefan ; Begré, Nadja ; Radonjic-Hoesli, Susanne ; Lamos, Cristina ; Gabutti, Max Philip ; Benzaquen, Michael ; Laimer, Markus ; Simon, Dagmar ; Nuoffer, Jean-Marc ; Schlapbach, Christoph
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2023-04, Vol.14 (1), p.2471-2471, Article 2471
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Intracellular Fate of the Photosensitizer Chlorin e4 with Different Carriers and Induced Metabolic Changes Studied by 1H NMR Spectroscopy
Author / Creator:Vermathen, Martina ; Kämpfer, Tobias ; Nuoffer, Jean-Marc ; Vermathen, Peter
Publisher:Basel: MDPI AG
Journal title:Pharmaceutics, 2023-09, Vol.15 (9), p.2324
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ATG12 deficiency leads to tumor cell oncosis owing to diminished mitochondrial biogenesis and reduced cellular bioenergetics
Author / Creator:Liu, He ; He, Zhaoyue ; Germič, Nina ; Ademi, Hyrijie ; Frangež, Živa ; Felser, Andrea ; Peng, Shuang ; Riether, Carsten ; Djonov, Valentin ; Nuoffer, Jean-Marc ; Bovet, Cédric ; Mlinarič-Raščan, Irena ; Zlobec, Inti ; Fiedler, Martin ; Perren, Aurel ; Simon, Hans-Uwe
Publisher:London: Nature Publishing Group UK
Journal title:Cell death and differentiation, 2020-06, Vol.27 (6), p.1965-1980
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Frequency and Pathophysiology of Acute Liver Failure in Ornithine Transcarbamylase Deficiency (OTCD)
Author / Creator:Laemmle, Alexander ; Gallagher, Renata C ; Keogh, Adrian ; Stricker, Tamar ; Gautschi, Matthias ; Nuoffer, Jean-Marc ; Baumgartner, Matthias R ; Häberle, Johannes
Publisher:United States: Public Library of Science
Journal title:PloS one, 2016-04, Vol.11 (4), p.e0153358-e0153358
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Untreated Classic Galactosemia: A Rare Cause of Adult-Onset Progressive Cerebellar Ataxia – A Case Report
Author / Creator:Karafyllis, Ioannis ; Nuoffer, Jean-Marc ; Michelis, Joan-Philipp ; Chilver-Stainer, Lara
Publisher:Basel, Switzerland: S. Karger AG
Journal title:Case reports in neurology, 2024-02, Vol.16 (1), p.55-62
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Mitochondrial tRNALeu(UUR) mutation m.3302A > G presenting as childhood-onset severe myopathy: threshold determination through segregation study
Author / Creator:Ballhausen, Diana ; Guerry, Frédéric ; Hahn, Dagmar ; Schaller, André ; Nuoffer, Jean-Marc ; Bonafé, Luisa ; Jeannet, Pierre-Yves ; Jacquemont, Sebastien
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2010-12, Vol.33 (Suppl 3), p.219-226
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Deficits of facial emotion recognition and visual information processing in adult patients with classical galactosemia
Author / Creator:Korner, Mirjam ; Kälin, Sonja ; Zweifel-Zehnder, Antoinette ; Fankhauser, Niklaus ; Nuoffer, Jean-Marc ; Gautschi, Matthias
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2019-02, Vol.14 (1), p.56-56, Article 56
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Combined transcriptome and metabolome analyses of metformin effects reveal novel links between metabolic networks in steroidogenic systems
Author / Creator:Udhane, Sameer S. ; Legeza, Balazs ; Marti, Nesa ; Hertig, Damian ; Diserens, Gaëlle ; Nuoffer, Jean-Marc ; Vermathen, Peter ; Flück, Christa E.
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2017-08, Vol.7 (1), p.8652-15, Article 8652
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Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria
Author / Creator:Hu, Liyan ; Pandey, Amit V. ; Balmer, Cécile ; Eggimann, Sandra ; Rüfenacht, Véronique ; Nuoffer, Jean-Marc ; Häberle, Johannes
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2015-09, Vol.38 (5), p.815-827
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Cross-sectional observational study of 208 patients with non-classical urea cycle disorders
Author / Creator:Rüegger, Corinne M. ; Lindner, Martin ; Ballhausen, Diana ; Baumgartner, Matthias R. ; Beblo, Skadi ; Das, Anibh ; Gautschi, Matthias ; Glahn, Esther M. ; Grünert, Sarah C. ; Hennermann, Julia ; Hochuli, Michel ; Huemer, Martina ; Karall, Daniela ; Kölker, Stefan ; Lachmann, Robin H. ; Lotz-Havla, Amelie ; Möslinger, Dorothea ; Nuoffer, Jean-Marc ; Plecko, Barbara ; Rutsch, Frank ; Santer, René ; Spiekerkoetter, Ute ; Staufner, Christian ; Stricker, Tamar ; Wijburg, Frits A. ; Williams, Monique ; Burgard, Peter ; Häberle, Johannes
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2014-01, Vol.37 (1), p.21-30
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An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants
Author / Creator:Pop, Ana ; Williams, Monique ; Struys, Eduard A. ; Monné, Magnus ; Jansen, Erwin E. W. ; De Grassi, Anna ; Kanhai, Warsha A. ; Scarcia, Pasquale ; Ojeda, Matilde R. Fernandez ; Porcelli, Vito ; van Dooren, Silvy J. M. ; Lennertz, Pascal ; Nota, Benjamin ; Abdenur, Jose E. ; Coman, David ; Das, Anibh Martin ; El-Gharbawy, Areeg ; Nuoffer, Jean-Marc ; Polic, Branka ; Santer, René ; Weinhold, Natalie ; Zuccarelli, Britton ; Palmieri, Ferdinando ; Palmieri, Luigi ; Salomons, Gajja S.
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2018-03, Vol.41 (2), p.169-180
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Effects of silica nanoparticle exposure on mitochondrial function during neuronal differentiation
Author / Creator:Ducray, Angélique D ; Felser, Andrea ; Zielinski, Jana ; Bittner, Aniela ; Bürgi, Julia V ; Nuoffer, Jean-Marc ; Frenz, Martin ; Mevissen, Meike
Publisher:England: BioMed Central Ltd
Journal title:Journal of nanobiotechnology, 2017-07, Vol.15 (1), p.49-49, Article 49
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Effects of endurance training on skeletal muscle mitochondrial function in Huntington disease patients
Author / Creator:Mueller, Sandro Manuel ; Gehrig, Saskia Maria ; Petersen, Jens A ; Frese, Sebastian ; Mihaylova, Violeta ; Ligon-Auer, Maria ; Khmara, Natalia ; Nuoffer, Jean-Marc ; Schaller, André ; Lundby, Carsten ; Toigo, Marco ; Jung, Hans H
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2017-12, Vol.12 (1), p.184-184, Article 184
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Early co-occurrence of a neurologic-psychiatric disease pattern in Niemann-Pick type C disease: a retrospective Swiss cohort study
Author / Creator:Abela, Lucia ; Plecko, Barbara ; Palla, Antonella ; Burda, Patricie ; Nuoffer, Jean-Marc ; Ballhausen, Diana ; Rohrbach, Marianne
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2014-11, Vol.9 (1), p.176-176, Article 176
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Copeptin concentration in cord blood in infants with early-onset sepsis, chorioamnionitis and perinatal asphyxia
Author / Creator:Schlapbach, Luregn J ; Frey, Stefanie ; Bigler, Susanna ; Manh-Nhi, Chiem ; Aebi, Christoph ; Nelle, Mathias ; Nuoffer, Jean-Marc
Publisher:England: BioMed Central Ltd
Journal title:BMC pediatrics, 2011-05, Vol.11 (1), p.38-38, Article 38
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Role of AMP-activated protein kinase on steroid hormone biosynthesis in adrenal NCI-H295R cells
Author / Creator:Hirsch, Andrea ; Hahn, Dagmar ; Kempná, Petra ; Hofer, Gaby ; Mullis, Primus E ; Nuoffer, Jean-Marc ; Flück, Christa E
Publisher:United States: Public Library of Science
Journal title:PloS one, 2012-01, Vol.7 (1), p.e30956
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Bacterial expression of mutant argininosuccinate lyase reveals imperfect correlation of in-vitro enzyme activity with clinical phenotype in argininosuccinic aciduria
Author / Creator:Engel, Katharina ; Vuissoz, Jean-Marc ; Eggimann, Sandra ; Groux, Murielle ; Berning, Christoph ; Hu, Liyan ; Klaus, Vera ; Moeslinger, Dorothea ; Mercimek-Mahmutoglu, Saadet ; Stöckler, Sylvia ; Wermuth, Bendicht ; Häberle, Johannes ; Nuoffer, Jean-Marc
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2012-01, Vol.35 (1), p.133-140
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Showing 1 to 20 of 49 results

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Specific GAG ratios in the diagnosis of mucopolysaccharidoses

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Early‐onset leukoencephalomyelopathy due to a biallelic NDUFV1 variant in a mid‐forties patient

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Neutrophil extracellular trap formation requires OPA1-dependent glycolytic ATP production

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PPAR-γ regulates the effector function of human T helper 9 cells by promoting glycolysis

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Intracellular Fate of the Photosensitizer Chlorin e4 with Different Carriers and Induced Metabolic Changes Studied by 1H NMR Spectroscopy

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ATG12 deficiency leads to tumor cell oncosis owing to diminished mitochondrial biogenesis and reduced cellular bioenergetics

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Frequency and Pathophysiology of Acute Liver Failure in Ornithine Transcarbamylase Deficiency (OTCD)

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Untreated Classic Galactosemia: A Rare Cause of Adult-Onset Progressive Cerebellar Ataxia – A Case Report

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Mitochondrial tRNALeu(UUR) mutation m.3302A > G presenting as childhood-onset severe myopathy: threshold determination through segregation study

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Deficits of facial emotion recognition and visual information processing in adult patients with classical galactosemia

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Combined transcriptome and metabolome analyses of metformin effects reveal novel links between metabolic networks in steroidogenic systems

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Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria

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Cross-sectional observational study of 208 patients with non-classical urea cycle disorders

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An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants

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Effects of silica nanoparticle exposure on mitochondrial function during neuronal differentiation

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Effects of endurance training on skeletal muscle mitochondrial function in Huntington disease patients

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Early co-occurrence of a neurologic-psychiatric disease pattern in Niemann-Pick type C disease: a retrospective Swiss cohort study

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Copeptin concentration in cord blood in infants with early-onset sepsis, chorioamnionitis and perinatal asphyxia

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Role of AMP-activated protein kinase on steroid hormone biosynthesis in adrenal NCI-H295R cells

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Bacterial expression of mutant argininosuccinate lyase reveals imperfect correlation of in-vitro enzyme activity with clinical phenotype in argininosuccinic aciduria

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