All Stories

  1. The histidine triad nucleotide-binding protein 2 (HINT-2) positively regulates hepatocellular energy metabolism

    Article • The FASEB Journal, September 2018, Federation of American Societies For Experimental Biology (FASEB)

    Jean-Marc NUOFFER, Marie St-Pierre, Raviprasadh Rajasekaran

  2. Adult classical homocystinuria requiring parenteral nutrition: Pitfalls and management

    Article • Clinical Nutrition, August 2018, Elsevier

    Jean-Marc NUOFFER

  3. Neutrophil extracellular trap formation requires OPA1-dependent glycolytic ATP production

    Article • Nature Communications, July 2018, Springer Science + Business Media

    Jean-Marc NUOFFER

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

    Article • Journal of Inherited Metabolic Disease, December 2017, Springer Science + Business Media

    Jean-Marc NUOFFER

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

    Article • Orphanet Journal of Rare Diseases, December 2017, Springer Science + Business Media

    Jean-Marc NUOFFER

  6. T cell inhibitory mechanisms in a model of aggressive Non-Hodgkin's Lymphoma

    Article • OncoImmunology, September 2017, Taylor & Francis

    Jean-Marc NUOFFER

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

    Article • Scientific Reports, August 2017, Springer Science + Business Media

    Jean-Marc NUOFFER

  8. Effects of silica nanoparticle exposure on mitochondrial function during neuronal differentiation

    Article • Journal of Nanobiotechnology, July 2017, Springer Science + Business Media

    Jean-Marc NUOFFER

  9. A Guideline for the Diagnosis of Pediatric Mitochondrial Disease: The Value of Muscle and Skin Biopsies in the Genetics Era

    Article • Neuropediatrics, June 2017, Thieme Publishing Group

    Jean-Marc NUOFFER

  10. A novel mitochondrial ATP6 frameshift mutation causing isolated complex V deficiency, ataxia and encephalomyopathy

    Article • European Journal of Medical Genetics, June 2017, Elsevier

    Jean-Marc NUOFFER

  11. Metabolic stability of cells for extended metabolomical measurements using NMR. A comparison between lysed and additionally heat inactivated cells

    Article • The Analyst, January 2017, Royal Society of Chemistry

    Jean-Marc NUOFFER

  12. SDHAmutation with dominant transmission results in complex II deficiency with ocular, cardiac, and neurologic involvement

    Article • American Journal of Medical Genetics Part A, September 2016, Wiley

    Jean-Marc NUOFFER

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

    Article • PLoS ONE, April 2016, PLOS

    Jean-Marc NUOFFER

  14. Effect of Cysteamine on Mutant ASL Proteins with Cysteine for Arginine Substitutions

    Article • Molecular Diagnosis & Therapy, January 2016, Springer Science + Business Media

    Jean-Marc NUOFFER

  15. A novel mutation in BCS1L associated with deafness, tubulopathy, growth retardation and microcephaly

    Article • European Journal of Pediatrics, November 2015, Springer Science + Business Media

    Jean-Marc NUOFFER

  16. Reversal of cardiomyopathy in propionic acidemia after liver transplantation: a 10-year follow-up

    Article • Transplant International, September 2015, Wiley

    Jean-Marc NUOFFER

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

    Article • Journal of Inherited Metabolic Disease, March 2015, Springer Science + Business Media

    Jean-Marc NUOFFER

  18. Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement

    Article • Annals of Clinical and Translational Neurology, March 2015, Wiley

    Jean-Marc NUOFFER

  19. Fatal hyperammonemia and carbamoyl phosphate synthetase 1 (CPS1) deficiency following high-dose chemotherapy and autologous hematopoietic stem cell transplantation

    Article • Molecular Genetics and Metabolism, March 2015, Elsevier

    Jean-Marc NUOFFER

  20. Integration of adult patients with phenylketonuria into professional life: Long-term follow-up of 27 patients in a single centre in Switzerland

    Article • Swiss Medical Weekly, December 2014, EMH Swiss Medical Publishers, Ltd.

    Jean-Marc NUOFFER

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

    Article • Orphanet Journal of Rare Diseases, November 2014, Springer Science + Business Media

    Jean-Marc NUOFFER

  22. Highly efficient ketone body treatment in multiple acyl-CoA dehydrogenase deficiency–related leukodystrophy

    Article • Pediatric Research, October 2014, Springer Science + Business Media

    Jean-Marc NUOFFER

  23. Stunted Growth, Splenomegaly, and Interstitial Pneumopathy

    Article • Gastroenterology, October 2014, Elsevier

    Jean-Marc NUOFFER

  24. Novel mitochondrial tRNAIlem.4282A>G gene mutation leads to chronic progressive external ophthalmoplegia plus phenotype

    Article • British Journal of Ophthalmology, July 2014, BMJ

    Jean-Marc NUOFFER

  25. Late diagnosis of fucosidosis in a child with progressive fixed dystonia, bilateral pallidal lesions and red spots on the skin

    Article • European Journal of Paediatric Neurology, July 2014, Elsevier

    Laura Merlini, Jean-Marc NUOFFER

  26. Mutations and Polymorphisms in the HumanArgininosuccinate Lyase(ASL) Gene

    Article • Human Mutation, November 2013, Wiley

    Jean-Marc NUOFFER

  27. Partial expression of ornithine transcarbamylase deficiency in an Egyptian female carrier

    Article • International Journal of Gynecology & Obstetrics, October 2013, Wiley

    Jean-Marc NUOFFER

  28. Understanding the Role of Argininosuccinate Lyase Transcript Variants in the Clinical and Biochemical Variability of the Urea Cycle Disorder Argininosuccinic Aciduria

    Article • Journal of Biological Chemistry, October 2013, American Society for Biochemistry & Molecular Biology (ASBMB)

    Jean-Marc NUOFFER

  29. Inflammation and atrial remodeling after a mountain marathon

    Article • Scandinavian Journal of Medicine and Science in Sports, December 2012, Wiley

    Jean-Marc NUOFFER

  30. Metformin Inhibits Human Androgen Production by Regulating Steroidogenic Enzymes HSD3B2 and CYP17A1 and Complex I Activity of the Respiratory Chain

    Article • Endocrinology, September 2012, Endocrine Society

    Jean-Marc NUOFFER

  31. Comparison of Pro-Atrial Natriuretic Peptide and Atrial Remodeling in Marathon Versus Non-Marathon Runners

    Article • The American Journal of Cardiology, April 2012, Elsevier

    Jean-Marc NUOFFER

  32. Botulinum Toxin Type A for the Treatment of Equinus Deformity in Patients With Mucopolysaccharidosis Type II

    Article • Journal of Child Neurology, March 2012, SAGE Publications

    Jean-Marc NUOFFER

  33. Role of AMP-Activated Protein Kinase on Steroid Hormone Biosynthesis in Adrenal NCI-H295R Cells

    Article • PLoS ONE, January 2012, PLOS

    Jean-Marc NUOFFER

  34. Serum amino acid profiles and their alterations in colorectal cancer

    Article • Metabolomics, September 2011, Springer Science + Business Media

    Jean-Marc NUOFFER

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

    Article • Journal of Inherited Metabolic Disease, June 2011, Springer Science + Business Media

    Jean-Marc NUOFFER

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

    Article • BMC Pediatrics, May 2011, Springer Science + Business Media

    Jean-Marc NUOFFER

  37. Impairment of mitochondrial tRNAIle processing by a novel mutation associated with chronic progressive external ophthalmoplegia

    Article • Mitochondrion, May 2011, Elsevier

    Jean-Marc NUOFFER

  38. Variability in urinary oxalate measurements between six international laboratories

    Article • Nephrology Dialysis Transplantation, March 2011, Oxford University Press (OUP)

    Jean-Marc NUOFFER

  39. Noninvasive Assessment of Exercise-Related Intramyocellular Acetylcarnitine in Euglycemia and Hyperglycemia in Patients With Type 1 Diabetes Using 1H Magnetic Resonance Spectroscopy: A randomized single-blind crossover study

    Article • Diabetes Care, October 2010, American Diabetes Association

    Jean-Marc NUOFFER

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

    Article • Journal of Inherited Metabolic Disease, May 2010, Springer Science + Business Media

    Jean-Marc NUOFFER

  41. Management of phenylketonuria in Europe: Survey results from 19 countries

    Article • Molecular Genetics and Metabolism, February 2010, Elsevier

    Jean-Marc NUOFFER

  42. Neuropeptide Y modulates steroid production of human adrenal H295R cells through Y1 receptors

    Article • Molecular and Cellular Endocrinology, January 2010, Elsevier

    Jean-Marc NUOFFER

  43. Recurrent Unexplained Episodes of Facial Cyanosis and Shortness of Breath in Hunter Disease

    Article • The Journal of Pediatrics, July 2009, Elsevier

    Jean-Marc NUOFFER

  44. Analysis of mRNA transcripts improves the success rate of molecular genetic testing in OTC deficiency

    Article • Molecular Genetics and Metabolism, July 2008, Elsevier

    Jean-Marc NUOFFER

  45. Reliability of M protein quantification: comparison of two peak integration methods on Capillarys 2

    Article • Clinical Chemistry and Laboratory Medicine (CCLM), January 2008, De Gruyter

    Jean-Marc NUOFFER

  46. Human adrenal corticocarcinoma NCI-H295R cells produce more androgens than NCI-H295A cells and differ in 3β-hydroxysteroid dehydrogenase type 2 and 17,20 lyase activities

    Article • Journal of Endocrinology, September 2007, Bioscientifica

    Jean-Marc NUOFFER

  47. Floppy Baby mit makrozytärer Anämie und veganischer Mutter

    Article • Praxis, August 2007, Hogrefe Publishing Group

    Jean-Marc NUOFFER

  48. Compositional Protein Analysis of High Density Lipoproteins in Hypercholesterolemia by Shotgun LC-MS/MS and Probabilistic Peptide Scoring

    Article • Molecular & Cellular Proteomics, March 2007, American Society for Biochemistry & Molecular Biology (ASBMB)

    Jean-Marc NUOFFER

  49. Hypoglykämie im Säuglingsalter – nicht immer eine Banalität!

    Article • Praxis, March 2007, Hogrefe Publishing Group

    Jean-Marc NUOFFER

  50. Novel mutation in OTC gene causes neonatal death in twin brothers

    Article • Journal of Perinatology, January 2007, Springer Science + Business Media

    Jean-Marc NUOFFER

  51. Elimination of chronic viral infection by blocking CD27 signaling

    Article • The Journal of Experimental Medicine, August 2006, Rockefeller University Press

    Jean-Marc NUOFFER

  52. Hypoglykämien – Diagnostik und Therapie im Notfall

    Article • Therapeutische Umschau, August 2005, Hogrefe Publishing Group

    Jean-Marc NUOFFER

  53. Identification of novel mutations of the human N-acetylglutamate synthase gene and their functional investigation by expression studies

    Article • Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, April 2005, Elsevier

    Jean-Marc NUOFFER

  54. Quality of life and psychologic adjustment in children and adolescents with early treated phenylketonuria can be normal

    Article • The Journal of Pediatrics, May 2002, Elsevier

    Professor Markus A Landolt, Jean-Marc NUOFFER

  55. Article • Journal of Inherited Metabolic Disease, January 1999, Springer Science + Business Media

    Jean-Marc NUOFFER

  56. Regulation of human growth hormone receptor gene transcription by human growth hormone binding protein

    Article • Molecular and Cellular Endocrinology, July 1997, Elsevier

    Jean-Marc NUOFFER

  57. Article • Journal of Inherited Metabolic Disease, January 1997, Springer Science + Business Media

    Jean-Marc NUOFFER