|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
|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
|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
|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
|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
|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
|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
|Chip-based mtDNA mutation screening enables fast and reliable genetic diagnosis of OXPHOS patients|
RGE Van Eijsden, M Gerards, LMT Eijssen, ATM Hendrickx, ...
Genetics in Medicine 8 (10), 620-627, 2006
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|Replication errors made during oogenesis lead to detectable de novo mtDNA mutations in zebrafish oocytes with a low mtDNA copy number|
ABC Otten, APM Stassen, M Adriaens, M Gerards, RGJ Dohmen, ...
Genetics 204 (4), 1423-1431, 2016
|Leigh syndrome: the genetic heterogeneity story continues|
Brain 137 (11), 2872-2873, 2014