| Clinical features and heteroplasmy in blood, urine and saliva in 34 Dutch families carrying the m. 3243A> G mutation P De Laat, S Koene, LPWJ van den Heuvel, RJT Rodenburg, ... Journal of inherited metabolic disease 35, 1059-1069, 2012 | 179 | 2012 |
| Posterior reversible encephalopathy syndrome in childhood cancer P De Laat, ML te Winkel, AS Devos, CE Catsman-Berrevoets, R Pieters, ... Annals of Oncology 22 (2), 472-478, 2011 | 136 | 2011 |
| Mitochondrial retinal dystrophy associated with the m. 3243A> G mutation P de Laat, JAM Smeitink, MCH Janssen, JEE Keunen, CJF Boon Ophthalmology 120 (12), 2684-2696, 2013 | 78 | 2013 |
| Serum GDF15 levels correlate to mitochondrial disease severity and myocardial strain, but not to disease progression in adult m. 3243A> G carriers S Koene, P de Laat, DH van Tienoven, G Weijers, D Vriens, FCGJ Sweep, ... JIMD Reports, Volume 24, 69-81, 2015 | 53 | 2015 |
| The KHENERGY study: Safety and efficacy of KH 176 in mitochondrial M. 3243A> G spectrum disorders MCH Janssen, S Koene, P de Laat, P Hemelaar, P Pickkers, E Spaans, ... Clinical Pharmacology & Therapeutics 105 (1), 101-111, 2019 | 52 | 2019 |
| Serum FGF21 levels in adult m. 3243A> G carriers: clinical implications S Koene, P de Laat, DH van Tienoven, D Vriens, AM Brandt, FCGJ Sweep, ... Neurology 83 (2), 125-133, 2014 | 51 | 2014 |
| Obstetric complications in carriers of the m. 3243A> G mutation, a retrospective cohort study on maternal and fetal outcome P de Laat, LHJ Fleuren, MN Bekker, JAM Smeitink, MCH Janssen Mitochondrion 25, 98-103, 2015 | 42 | 2015 |
| Dysphagia, malnutrition and gastrointestinal problems in patients with mitochondrial disease caused by the m3243A> G mutation P Laat, HE Zweers, S Knuijt, J Smeitink, GJA Wanten, MCH Janssen | 41 | 2015 |
| Three families with ‘de novo’m. 3243A> G mutation P de Laat, MCH Janssen, CL Alston, RW Taylor, RJT Rodenburg, ... BBA clinical 6, 19-24, 2016 | 29 | 2016 |
| Inheritance of the m. 3243A> G mutation P de Laat, S Koene, LPWJ Heuvel, RJT Rodenburg, MCH Janssen, ... JIMD Reports-Case and Research Reports, 2012/5, 47-50, 2013 | 28 | 2013 |
| A urinary biosignature for mitochondrial myopathy, encephalopathy, lactic acidosis and stroke like episodes (MELAS) K Esterhuizen, JZ Lindeque, S Mason, FH Van der Westhuizen, ... Mitochondrion 45, 38-45, 2019 | 26 | 2019 |
| Quality of life, fatigue and mental health in patients with the m. 3243A> G mutation and its correlates with genetic characteristics and disease manifestation C Verhaak, P de Laat, S Koene, M Tibosch, R Rodenburg, I de Groot, ... Orphanet journal of rare diseases 11, 1-8, 2016 | 23 | 2016 |
| Six-year prospective follow-up study in 151 carriers of the mitochondrial DNA 3243 A> G variant P de Laat, RR Rodenburg, N Roeleveld, S Koene, JA Smeitink, ... Journal of medical genetics 58 (1), 48-55, 2021 | 22 | 2021 |
| One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m. 3243A> G mutation K Esterhuizen, JZ Lindeque, S Mason, FH van der Westhuizen, ... Metabolomics 17, 1-16, 2021 | 15 | 2021 |
| Neuromuscular disorders in pregnancy C Edmundson, AC Guidon Seminars in Neurology 37 (06), 643-652, 2017 | 15 | 2017 |
| Five non-mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes phenotype adult patients with m. 3243A> G mutation after kidney transplantation … P de Laat, N van Engelen, JF Wetzels, JAM Smeitink, MCH Janssen Clinical Kidney Journal 12 (6), 840-846, 2019 | 14 | 2019 |
| Fear of disease progression in carriers of the m. 3243A> G mutation JAE Custers, P de Laat, S Koene, J Smeitink, MCH Janssen, C Verhaak Orphanet Journal of Rare Diseases 13, 1-6, 2018 | 13 | 2018 |
| Intra‐patient variability of heteroplasmy levels in urinary epithelial cells in carriers of the m. 3243A> G mutation P de Laat, RJ Rodenburg, JAM Smeitink, MCH Janssen Molecular Genetics & Genomic Medicine 7 (2), e00523, 2019 | 12 | 2019 |
| Quantification of gait in mitochondrial m. 3243A> G patients: a validation study R Ramakers, S Koene, JT Groothuis, P de Laat, MCH Janssen, J Smeitink Orphanet journal of rare diseases 12, 1-9, 2017 | 7 | 2017 |
| Is 2D speckle tracking echocardiography useful for detecting and monitoring myocardial dysfunction in adult m. 3243A> G carriers?—a retrospective pilot study S Koene, J Timmermans, G Weijers, P de Laat, CL de Korte, ... Journal of inherited metabolic disease 40, 247-259, 2017 | 7 | 2017 |
Prof. dr. Jan A.M. SmeitinkProfessor in Mitochondrial MedicineGeverifieerd e-mailadres voor radboudumc.nl
