20062019
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Research Output 2006 2019

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

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

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., Sep 2017, In : Annals of Neurology. 82, 3, p. 317-330 14 p.

Research output: Contribution to journalArticleAcademicpeer-review

2016
2 Citations (Scopus)

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
4 Citations (Scopus)

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

3 Citations (Scopus)

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
3 Citations (Scopus)

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

2 Citations (Scopus)

Leigh syndrome: the genetic heterogeneity story continues

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

Research output: Contribution to journalArticleAcademicpeer-review

3 Citations (Scopus)

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

8 Citations (Scopus)

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
32 Citations (Scopus)

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
17 Citations (Scopus)

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
8 Citations (Scopus)

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

67 Citations (Scopus)

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
33 Citations (Scopus)

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

34 Citations (Scopus)

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
30 Citations (Scopus)

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