If you made any changes in Pure these will be visible here soon.

Research Output

Filter
Article
2020

TfamKnockdown Results in Reduction of mtDNA Copy Number, OXPHOS Deficiency and Abnormalities in Zebrafish Embryos

Otten, A. B. C., Kamps, R., Lindsey, P., Gerards, M., Pendeville-Samain, H., Muller, M., van Tienen, F. H. J. & Smeets, H. J. M., 12 Jun 2020, In : Frontiers in Cell and Developmental Biology. 8, 11 p., 381.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access
2019

A zebrafish model to study small-fiber neuropathy reveals a potential role for GDAP1

Eijkenboom, I., Vanoevelen, J. M., Hoeijmakers, J. G. J., Wijnen, I., Gerards, M., Faber, C. G. & Smeets, H. J. M., Jul 2019, In : Mitochondrion. 47, p. 273-281 9 p.

Research output: Contribution to journalArticleAcademicpeer-review

Manipulating mtDNA in vivo reprograms metabolism via novel response mechanisms

Bahhir, D., Yalgin, C., Ots, L., Jarvinen, S., George, J., Naudi, A., Krama, T., Krams, I., Tamm, M., Andjelkovic, A., Dufour, E., Gonzalez de Cozar, J. M., Gerards, M., Parhiala, M., Pamplona, R., Jacobs, H. T. & Joers, P., Oct 2019, In : Plos Genetics. 15, 10, 31 p., 1008410.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

RNase H1 promotes replication fork progression through oppositely transcribed regions of Drosophila mitochondrial DNA

Gonzalez de Cozar, J. M., Gerards, M., Teeri, E., George, J., Dufour, E., Jacobs, H. T. & Joers, P., 22 Mar 2019, In : Journal of Biological Chemistry. 294, 12, p. 4331-4344 14 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access
2018

Elevated mitochondrial DNA copy numbers in pediatric acute lymphoblastic leukemia: A potential biomarker for predicting inferior survival

Jain, A., Bakhshi, S., Thakkar, H., Gerards, M. & Singh, A., 1 Mar 2018, In : Pediatric Blood & Cancer. 65, 3, 7 p., 26874.

Research output: Contribution to journalArticleAcademicpeer-review

Intracellular vesicle trafficking plays an essential role in mitochondrial quality control

Gerards, M., Cannino, G., de Cozar, J. M. G. & Jacobs, H. T., 1 Apr 2018, In : Molecular Biology of the Cell. 29, 7, p. 809-819 11 p.

Research output: Contribution to journalArticleAcademicpeer-review

Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause

Theunissen, T. E. J., Nguyen, M., Kamps, R., Hendrickx, A. T., Sallevelt, S. C. E. H., Gottschalk, R. W. H., Calis, C. M., Stassen, A. P. M., de Koning, B., Mulder-Den Hartog, E. N. M., Schoonderwoerd, K., Fuchs, S. A., Hilhorst-Hofstee, Y., de Visser, M., Vanoevelen, J., Szklarczyk, R., Gerards, M., de Coo, I. F. M., Hellebrekers, D. M. E. & Smeets, H. J. M., 12 Oct 2018, In : Frontiers in Genetics. 9, 17 p., 400.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access
2017

Novel pathogenic SLC25A46 splice-site mutation causes an optic atrophy spectrum disorder

Nguyen, M., Boesten, I., Hellebrekers, D. M. E. I., Mulder-den Hartog, N. M., de Coo, I. F. M., Smeets, H. J. M. & Gerards, M., Jan 2017, In : Clinical Genetics. 91, 1, p. 121-125 5 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Selection and Characterization of Palmitic Acid Responsive Patients with an OXPHOS Complex I Defect

Theunissen, T. E. J., Gerards, M., Hellebrekers, D. M. E. I., van Tienen, F. H., Kamps, R., Sallevelt, S. C. E. H., Hartog, E. N. M. M. -D., Scholte, H. R., Verdijk, R. M., Schoonderwoerd, K., de Coo, I. F. M., Szklarczyk, R. & Smeets, H. J. M., 18 Oct 2017, In : Frontiers in molecular neuroscience. 10, 12 p., 336.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Thiamine Deficiency in Childhood with Attention to Genetic Causes: Survival and Outcome Predictors

Ortigoza-Escobar, J. D., Alfadhel, M., Molero-Luis, M., Darin, N., Spiegel, R., de Coo, I. F., Gerards, M., Taylor, R. W., Artuch, R., Nashabat, M., Rodriguez-Pombo, P., Tabarki, B., Perez-Duenas, B. & Thiamine Deficiency Study Grp, Sep 2017, In : Annals of Neurology. 82, 3, p. 317-330 14 p.

Research output: Contribution to journalArticleAcademicpeer-review

2016

Differences in Strength and Timing of the mtDNA Bottleneck between Zebrafish Germline and Non-germline Cells

Otten, A. B. C., Theunissen, T. E. J., Derhaag, J. G., Lambrichs, E. H., Boesten, I. B. W., Winandy, M., van Montfoort, A. P. A., Tarbashevich, K., Raz, E., Gerards, M., Vanoevelen, J. M., van den Bosch, B. J. C., Muller, M. & Smeets, H. J. M., 19 Jul 2016, In : Cell Reports. 16, 3, p. 622-630 9 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Leigh syndrome: Resolving the clinical and genetic heterogeneity paves the way for treatment options

Gerards, M., Sallevelt, S. C. E. H. & Smeets, B., Mar 2016, In : Molecular Genetics and Metabolism. 117, 3, p. 300-312 13 p.

Research output: Contribution to journalArticleAcademicpeer-review

Pathogenic CWF19L1 variants as a novel cause of autosomal recessive cerebellar ataxia and atrophy

Nguyen, M., Boesten, I. B. W., Hellebrekers, D. M. E. I., Vanoevelen, J., Kamps, R., de Koning, B., de Coo, I. F. M., Gerards, M. & Smeets, H. J. M., Apr 2016, In : European Journal of Human Genetics. 24, 4, p. 619-622 4 p.

Research output: Contribution to journalArticleAcademicpeer-review

Replication Errors Made During Oogenesis Lead to Detectable De Novo mtDNA Mutations in Zebrafish Oocytes with a Low mtDNA Copy Number

Otten, A. B. C., Stassen, A. P. M., Adriaens, M., Gerards, M., Dohmen, R. G. J., Timmer, A. J., Vanherle, S. J. V., Kamps, R., Boesten, I. B. W., Vanoevelen, J. M., Muller, M. & Smeets, B., Dec 2016, In : Genetics. 204, 4, p. 1423-1431 9 p.

Research output: Contribution to journalArticleAcademicpeer-review

Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects

Theunissen, T. E. J., Szklarczyk, R., Gerards, M., Hellebrekers, D. M. E. I., Mulder-Den Hartog, E. N. M., Vanoevelen, J., Kamps, R., de Koning, B., Rutledge, S. L., Schmitt-Mechelke, T., Van Berkel, C. G. M., van der Knaap, M. S., de Coo, I. F. M. & Smeets, H. J. M., 16 Nov 2016, In : Frontiers in Neurology. 7, 8 p., 203.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access
2014

Ciona intestinalis NADH dehydrogenase NDX confers stress-resistance and extended lifespan on Drosophila

Gospodaryov, D. V., Lushchak, O. V., Rovenko, B. M., Perkhulyn, N. V., Gerards, M., Tuomela, T. & Jacobs, H. T., Nov 2014, In : Biochimica et Biophysica Acta-bioenergetics. 1837, 11, p. 1861-1869

Research output: Contribution to journalArticleAcademicpeer-review

Leigh syndrome: the genetic heterogeneity story continues

Gerards, M., Nov 2014, In : Brain. 137, p. 2872-2873

Research output: Contribution to journalArticleAcademicpeer-review

Reply: Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease

Gerards, M., de Coo, R. & Smeets, H., Sep 2014, In : Brain. 137, e296.

Research output: Contribution to journalArticleAcademicpeer-review

Screen for mitochondrial DNA copy number maintenance genes reveals essential role for ATP synthase

Fukuoh, A., Cannino, G., Gerards, M., Buckley, S., Kazancioglu, S., Scialo, F., Lihavainen, E., Ribeiro, A., Dufour, E. & Jacobs, H. T., Jun 2014, In : Molecular Systems Biology. 10, 6, 734.

Research output: Contribution to journalArticleAcademicpeer-review

2013

Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome

Gerards, M., Kamps, R., van Oevelen, J., Boesten, I., Jongen, E., de Koning, B., Scholte, H. R., de Angst, I., Schoonderwoerd, K., Sefiani, A., Ratbi, I., Coppieters, W., Karim, L., de Coo, R., van den Bosch, B. & Smeets, H., Mar 2013, In : Brain. 136, Pt 3, p. 882-90 9 p.

Research output: Contribution to journalArticleAcademicpeer-review

2012

Defective NDUFA9 as a novel cause of neonatally fatal complex I disease

van den Bosch, B. J. C., Gerards, M., Sluiter, W., Stegmann, A. P. A., Jongen, E. L. C., Hellebrekers, D. M. E. I., Oegema, R., Lambrichs, E. H., Prokisch, H., Danhauser, K., Schoonderwoerd, K., de Coo, I. F. M. & Smeets, H. J. M., Jan 2012, In : Journal of Medical Genetics. 49, 1, p. 10-5 6 p.

Research output: Contribution to journalArticleAcademicpeer-review

2011

Inherited mitochondrial variants are not a major cause of age-related hearing impairment in the European population

Bonneux, S., Fransen, E., Van Eyken, E., Van Laer, L., Huyghe, J., Van de Heyning, P., Voets, A., Gerards, M., Stassen, A. P. M., Hendrickx, A. T. M., Smeets, H. J. M. & Van Camp, G., Sep 2011, In : Mitochondrion. 11, 5, p. 729-734 6 p.

Research output: Contribution to journalArticleAcademicpeer-review

Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene

Gerards, M., van den Bosch, B. J. C., Danhauser, K., Serre, V., van Weeghel, M., Wanders, R. J. A., Nicolaes, G. A. F., Sluiter, W., Schoonderwoerd, K., Scholte, H. R., Prokisch, H., Rötig, A., de Coo, I. F. M. & Smeets, H. J. M., Jan 2011, In : Brain. 134, Pt 1, p. 210-219 10 p.

Research output: Contribution to journalArticleAcademicpeer-review

2010

Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome

Gerards, M., Sluiter, W., van den Bosch, B. J. C., de Wit, L. E. A., Calis, C. M. H., Frentzen, M., Akbari, H., Schoonderwoerd, K., Scholte, H. R., Jongbloed, R. J., Hendrickx, A. T. M., de Coo, I. F. M. & Smeets, H. J. M., Aug 2010, In : Journal of Medical Genetics. 47, 8, p. 507-12 6 p.

Research output: Contribution to journalArticleAcademicpeer-review

Nonsense mutations in CABC1/ADCK3 cause progressive cerebellar ataxia and atrophy

Gerards, M., van den Bosch, B., Calis, C., Schoonderwoerd, K., van Engelen, K., Tijssen, M., de Coo, R., van der Kooi, A. & Smeets, H., Aug 2010, In : Mitochondrion. 10, 5, p. 510-5 6 p.

Research output: Contribution to journalArticleAcademicpeer-review

2006

Chip-based mtDNA mutation screening enables fast and reliable genetic diagnosis of OXPHOS patients

van Eijsden, R. G., Gerards, M., Eijssen, L. M., Hendrickx, A. T., Jongbloed, R. J. E., Wokke, J. H., Hintzen, R. Q., Rubio-Gozalbo, M. E., De Coo, I. F., Briem, E., Tiranti, V. & Smeets, H. J., 1 Jan 2006, In : Genetics in Medicine. 8, 10, p. 620-627

Research output: Contribution to journalArticleAcademicpeer-review