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Mike Gerards
Mike Gerards
Maastricht Centre for Systems Biology (MaCSBio)
在 maastrichtuniversity.nl 的电子邮件经过验证
标题
引用次数
引用次数
年份
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
4112007
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
1402011
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
1332016
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
1092013
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
952018
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
912010
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
832010
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
652017
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
612012
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
532016
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
502007
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
492014
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
482017
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
422006
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
372020
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
322016
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
242016
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
222014
A hitchhiker’s guide to mitochondrial quantification
IMGM Hemel, BPH Engelen, N Luber, M Gerards
Mitochondrion 59, 216-224, 2021
212021
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
212011
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