| Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA–haplogroup background G Hudson, V Carelli, L Spruijt, M Gerards, C Mowbray, A Achilli, A Pyle, ... The American Journal of Human Genetics 81 (2), 228-233, 2007 | 411 | 2007 |
| Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene M Gerards, BJC Van Den Bosch, K Danhauser, V Serre, M van Weeghel, ... Brain 134 (1), 210-219, 2011 | 140 | 2011 |
| Leigh syndrome: resolving the clinical and genetic heterogeneity paves the way for treatment options M Gerards, SCEH Sallevelt, HJM Smeets Molecular genetics and metabolism 117 (3), 300-312, 2016 | 133 | 2016 |
| Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome M Gerards, R Kamps, J van Oevelen, I Boesten, E Jongen, B de Koning, ... Brain 136 (3), 882-890, 2013 | 109 | 2013 |
| Whole exome sequencing is the preferred strategy to identify the genetic defect in patients with a probable or possible mitochondrial cause TEJ Theunissen, M Nguyen, R Kamps, AT Hendrickx, SCEH Sallevelt, ... Frontiers in genetics 9, 400, 2018 | 95 | 2018 |
| Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome M Gerards, W Sluiter, BJC van den Bosch, LEA De Wit, CMH Calis, ... Journal of medical genetics 47 (8), 507-512, 2010 | 91 | 2010 |
| Nonsense mutations in CABC1/ADCK3 cause progressive cerebellar ataxia and atrophy M Gerards, B van den Bosch, C Calis, K Schoonderwoerd, K van Engelen, ... Mitochondrion 10 (5), 510-515, 2010 | 83 | 2010 |
| Thiamine deficiency in childhood with attention to genetic causes: survival and outcome predictors JD Ortigoza‐Escobar, M Alfadhel, M Molero‐Luis, N Darin, R Spiegel, ... Annals of neurology 82 (3), 317-330, 2017 | 65 | 2017 |
| Defective NDUFA9 as a novel cause of neonatally fatal complex I disease BJC Van den Bosch, M Gerards, W Sluiter, APA Stegmann, ELC Jongen, ... Journal of medical genetics 49 (1), 10-15, 2012 | 61 | 2012 |
| Differences in strength and timing of the mtDNA bottleneck between zebrafish germline and non-germline cells ABC Otten, TEJ Theunissen, JG Derhaag, EH Lambrichs, IBW Boesten, ... Cell reports 16 (3), 622-630, 2016 | 53 | 2016 |
| mtDNA point mutations are present at various levels of heteroplasmy in human oocytes L Jacobs, M Gerards, P Chinnery, J Dumoulin, I de Coo, J Geraedts, ... MHR: Basic science of reproductive medicine 13 (3), 149-154*, 2007 | 50 | 2007 |
| Screen for mitochondrial DNA copy number maintenance genes reveals essential role for ATP synthase A Fukuoh, G Cannino, M Gerards, S Buckley, S Kazancioglu, F Scialo, ... Molecular systems biology 10 (6), 734, 2014 | 49 | 2014 |
| Novel pathogenic SLC25A46 splice‐site mutation causes an optic atrophy spectrum disorder M Nguyen, I Boesten, D Hellebrekers, NM Mulder‐den Hartog, ... Clinical genetics 91 (1), 121-125, 2017 | 48 | 2017 |
| Chip-based mtDNA mutation screening enables fast and reliable genetic diagnosis of OXPHOS patients RGE Van Eijsden, M Gerards, LMT Eijssen, A Hendrickx, RJE Jongbloed, ... Genetics in Medicine 8 (10), 620-627, 2006 | 42 | 2006 |
| Tfam Knockdown Results in Reduction of mtDNA Copy Number, OXPHOS Deficiency and Abnormalities in Zebrafish Embryos ABC Otten, R Kamps, P Lindsey, M Gerards, H Pendeville-Samain, ... Frontiers in cell and developmental biology 8, 381, 2020 | 37 | 2020 |
| Specific MRI abnormalities reveal severe Perrault syndrome due to CLPP defects TEJ Theunissen, R Szklarczyk, M Gerards, DMEI Hellebrekers, ... Frontiers in neurology 7, 203, 2016 | 32 | 2016 |
| Pathogenic CWF19L1 variants as a novel cause of autosomal recessive cerebellar ataxia and atrophy M Nguyen, I Boesten, DMEI Hellebrekers, J Vanoevelen, R Kamps, ... European Journal of Human Genetics 24 (4), 619-622, 2016 | 24 | 2016 |
| Ciona intestinalis NADH dehydrogenase NDX confers stress-resistance and extended lifespan on Drosophila DV Gospodaryov, V Lushchak, BM Rovenko, NV Perkhulyn, M Gerards, ... Biochimica et Biophysica Acta (BBA)-Bioenergetics 1837 (11), 1861-1869, 2014 | 22 | 2014 |
| A hitchhiker’s guide to mitochondrial quantification IMGM Hemel, BPH Engelen, N Luber, M Gerards Mitochondrion 59, 216-224, 2021 | 21 | 2021 |
| Inherited mitochondrial variants are not a major cause of age-related hearing impairment in the European population S Bonneux, E Fransen, E Van Eyken, L Van Laer, J Huyghe, ... Mitochondrion 11 (5), 729-734, 2011 | 21 | 2011 |
Willem SluiterCenter for Lysosomal and Metabolic Diseases, Erasmus Medical Center, Rotterdam, The Netherlands在 caiway.nl 的电子邮件经过验证
