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

Research Output

2019

A gain-of-function sodium channel beta 2-subunit mutation in painful diabetic neuropathy

Alsaloum, M., Estacion, M., Almomani, R., Gerrits, M. M., Boenhof, G. J., Ziegler, D., Malik, R., Ferdousi, M., Lauria, G., Merkies, I. S. J., Faber, C. G., Dib-Hajj, S., Waxman, S. G., de Greef, B., Hoeijmakers, J. G. J., Sopacua, M., Smeets, H. J. M., Vanoevelen, J. M., Eijkenboom, Lindsey, P. & 21 others, Almomani, R., Taiana, M., Marchi, M., Lombardi, R., Cazzato, D., Boneschi, F. M., Zauli, A., Clarelli, F., Santoro, S., Lopez, A. B., Quattrini, A., Cestele, S., Chever, O., Tavakoli, M., Malik, R., Kapetis, D., Xenakis, M. N., Mantegazza, M., Battiato, F., Strom, A. & PROPANE Study Grp, May 2019, In : Molecular Pain. 15, p. 1-14 14 p., 1744806919849802.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

A novel mitochondrial m.4414T > C MT-TM gene variant causing progressive external ophthalmoplegia and myopathy

Hellebrekers, D. M. E. I., Blakely, E. L., Hendrickx, A. T. M., Hardy, S. A., Hopton, S., Falkous, G., de Coo, I. F. M., Smeets, H. J. M., van der Beek, N. M. E. & Taylor, R. W., Sep 2019, In : Neuromuscular Disorders. 29, 9, p. 693-697 5 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

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

Expression of pathogenic SCN9A mutations in the zebrafish: A model to study small-fiber neuropathy

Eijkenboom, I., Sopacua, M., Otten, A., Gerrits, M., Hoeijmakers, J., Waxman, S. G., Lombardi, R., Lauria, G., Merkies, I. S. J., J.M. Smeets, H., Faber, K., Vanoevelen, J. & PROPANE Study Grp, Jan 2019, In : Experimental Neurology. 311, p. 257-264 8 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Healthy, mtDNA-mutation free mesoangioblasts from mtDNA patients qualify for autologous therapy

van Tienen, F., Zelissen, R., Timmer, E., van Gisbergen, M., Lindsey, P., Quattrocelli, M., Sampaolesi, M., Mulder-den Hartog, E., de Coo, I. & Smeets, H., 21 Dec 2019, In : Stem Cell Research & Therapy. 10, 1, 10 p., 405.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis (vol 6, pg 515, 2019)

Hayhurst, H., de Coo, I. F. M., Piekutowska-Abramczuk, D., Alston, C. L., Sharma, S., Thompson, K., Rius, R., He, L., Hopton, S., Ploski, R., Ciara, E., Lake, N. J., Compton, A. G., Delatycki, M. B., Verrips, A., Bonnen, P. E., Jones, S. A., Morris, A. A., Shakespeare, D., Christodoulou, J. & 9 others, Wesol-Kucharska, D., Rokicki, D., Smeets, H. J. M., Pronicka, E., Thorburn, D. R., Gorman, G. S., McFarland, R., Taylor, R. W. & Ng, Y. S., Apr 2019, In : Annals of Clinical and Translational Neurology. 6, 4, p. 821-821 1 p.

Research output: Contribution to journalErratum / corrigendumAcademic

Open Access

Yield of peripheral sodium channels gene screening in pure small fibre neuropathy

Eijkenboom, I., Sopacua, M., Hoeijmakers, J., de Greef, B., Lindsey, P., Almomani, R., Marchi, M., Vanoevelen, J., J.M. Smeets, H., Waxman, S. G., Lauria, G., Merkies, I., Faber, K. & Gerrits, M., Mar 2019, In : Journal of Neurology Neurosurgery and Psychiatry. 90, 3, p. 342-352 11 p.

Research output: Contribution to journalArticleAcademicpeer-review

2018

Anatomic & metabolic brain markers of the m.3243A>G mutation: A multi-parametric 7T MRI study

Haast, R. A. M., Ivanov, D., IJsselstein, R. J. T., Sallevelt, S. C. E. H., Jansen, J. F. A., Smeets, H. J. M., de Coo, I. F. M., Formisano, E. & Uludağ, K., 2018, In : NeuroImage: Clinical. 18, p. 231-244 14 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

Repp, B. M., Mastantuono, E., Alston, C. L., Schiff, M., Haack, T. B., Rotig, A., Ardissone, A., Lombes, A., Catarino, C. B., Diodato, D., Schottmann, G., Poulton, J., Burlina, A., Jonckheere, A., Munnich, A., Rolinski, B., Ghezzi, D., Rokicki, D., Wellesley, D., Martinelli, D. & 37 others, Ding, W., Lamantea, E., Ostergaard, E., Pronicka, E., Pierre, G., Smeets, H. J. M., Wittig, I., Scurr, I., de Coo, I. F. M., Moroni, I., Smet, J., Mayr, J. A., Dai, L., de Meirleir, L., Schuelke, M., Zeviani, M., Morscher, R. J., McFarland, R., Seneca, S., Klopstock, T., Meitinger, T., Wieland, T., Strom, T. M., Herberg, U., Ahting, U., Sperl, W., Nassogne, M-C., Ling, H., Fang, F., Freisinger, P., Van Coster, R., Strecker, V., Taylor, R. W., Haberle, J., Vockley, J., Prokisch, H. & Wortmann, S., 19 Jul 2018, In : Orphanet Journal of Rare Diseases. 13, 10 p., 120.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease

Kamps, R., Szklarczyk, R., Theunissen, T. E., Hellebrekers, D. M. E. I., Sallevelt, S. C. E. H., Boesten, I. B., de Koning, B., van den Bosch, B. J., Salomons, G. S., Simas-Mendes, M., Verdijk, R., Schoonderwoerd, K., de Coo, I. F. M., Vanoevelen, J. M. & Smeets, H. J. M., 1 Apr 2018, In : European Journal of Human Genetics. 26, 4, p. 537-551 15 p.

Research output: Contribution to journalArticleAcademicpeer-review

Human Wharton's Jelly-Derived Stem Cells Display a Distinct Immunomodulatory and Proregenerative Transcriptional Signature Compared to Bone Marrow-Derived Stem Cells

Donders, R., Bogie, J. F. J., Ravanidis, S., Gervois, P., Vanheusden, M., Maree, R., Schrynemackers, M., Smeets, H. J. M., Pinxteren, J., Gijbels, K., Walbers, S., Mays, R. W., Deans, R., Van Den Bosch, L., Stinissen, P., Lambrichts, I., Gyselaers, W. & Hellings, N., 1 Jan 2018, In : Stem Cells and Development. 27, 2, p. 65-84 20 p.

Research output: Contribution to journalArticleAcademicpeer-review

Mutation-specific effects in germline transmission of pathogenic mtDNA variants

Otten, A. B. C., Sallevelt, S. C. E. H., Carling, P. J., Dreesen, J. C. F. M., Drusedau, M., Spierts, S., Paulussen, A. D. C., de Die-Smulders, C. E. M., Herbert, M., Chinnery, P. F., Samuels, D. C., Lindsey, P. & Smeets, H. J. M., 1 Jul 2018, In : Human Reproduction. 33, 7, p. 1331-1341 11 p.

Research output: Contribution to journalArticleAcademicpeer-review

Of mice and human embryos: is there an ethically preferred order of preclinical research on new assisted reproductive technologies?

Jans, V., Dondorp, W., Goossens, E., Mertes, H., Pennings, G., J.M. Smeets, H. & de Wert, G., 1 Sep 2018, In : Human Reproduction. 33, 9, p. 1581-1585 5 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
Open Access
66 Downloads (Pure)

De novo mtDNA point mutations are common and have a low recurrence risk

Sallevelt, S. C. E. H., de Die-Smulders, C. E. M., Hendrickx, A. T. M., Hellebrekers, D. M. E. I., de Coo, I. F. M., Alston, C. L., Knowles, C., Taylor, R. W., McFarland, R. & Smeets, H. J. M., Feb 2017, In : Journal of Medical Genetics. 54, 2, p. 114-124 11 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Dietary nitrate does not reduce oxygen cost of exercise or improve muscle mitochondrial function in patients with mitochondrial myopathy

Nabben, M., Schmitz, J. P. J., Ciapaite, J., le Clercq, C. M. P., van Riel, N. A., Haak, H. R., Nicolay, K., de Coo, I. F. M., Smeets, H., Praet, S. F., van Loon, L. J. & Prompers, J. J., 1 May 2017, In : American Journal of Physiology-regulatory Integrative and Comparative Physiology. 312, 5, p. R689-R701 13 p.

Research output: Contribution to journalArticleAcademicpeer-review

Network topology of NaV1.7 mutations in sodium channel-related painful disorders

Kapetis, D., Sassone, J., Yang, Y., Galbardi, B., Xenakis, M. N., Westra, R. L., Szklarczyk, R., Lindsey, P., Faber, C. G., Gerrits, M., Merkies, I. S. J., Dib-Hajj, S. D., Mantegazza, M., Waxman, S. G., PROPANE Study Grp, J.M. Smeets, H. & Lauria, G., 24 Feb 2017, In : BMC Systems Biology. 11, 16 p., 28.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

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

Novel SLC25A32 mutation in a patient with a severe neuromuscular phenotype

Hellebrekers, D. M., Sallevelt, S. C. E. H., Theunissen, T. E. J., Hendrickx, A. T. M., Gottschalk, R. W., Hoeijmakers, J. G. J., Habets, D. D., Bierau, J., Schoonderwoerd, K. G. & Smeets, H. J. M., Jun 2017, In : European Journal of Human Genetics. 25, 7, p. 886-888 3 p.

Research output: Contribution to journalArticleAcademicpeer-review

PGD for the m.14487 T>C mitochondrial DNA mutation resulted in the birth of a healthy boy

Sallevelt, S. C. E. H., Dreesen, J. C. F. M., Druesedau, M., Hellebrekers, D. M. E. I., Paulussen, A. D. C., Coonen, E., Van Golde, R. J. T., Geraedts, J. P. M., Gianaroli, L., Magli, M. C., Zeviani, M., Smeets, H. J. M. & de Die-Smulders, C. E. M., Mar 2017, In : Human Reproduction. 32, 3, p. 698-703 6 p.

Research output: Contribution to journalArticleAcademicpeer-review

Rapid Resolution of Blended or Composite Multigenic Disease in Infants by Whole-Exome Sequencing

Theunissen, T. E. J., Sallevelt, S. C. E. H., Hellebrekers, D. M. E. I., de Koning, B., Hendrickx, A. T. M., van den Bosch, B. J. C., Kamps, R., Schoonderwoerd, K., Szklarczyk, R., Hartog, E. N. M. M-D., de Coo, I. F. M. & Smeets, H. J. M., Mar 2017, In : The Journal of Pediatrics. 182, p. 371-374 4 p.

Research output: Contribution to journalArticleAcademicpeer-review

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
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
2 Citations (Scopus)

Hypertrophic remodelling in cardiac regulatory myosin light chain (MYL2) founder mutation carriers

Claes, G. R. F., van Tienen, F. H. J., Lindsey, P., Krapels, I. P. C., van den Enden, A., Hoos, M., Barrois, Y. E. G., Janssen, J., Paulussen, A. D. C., Sels, J-W. E. M., Kuijpers, S. H. H., van Tintelen, J. P., van den Berg, M. P., Heesen, W. F., Garcia-Pavia, P., Perrot, A., Christiaans, I., Salemink, S., Marcelis, C. L. M., Smeets, B. & 3 others, Brunner, H. G., Volders, P. G. A. & van den Wijngaard, A., 14 Jun 2016, In : European Heart Journal. 37, 23, p. 1815-1822

Research output: Contribution to journalArticleAcademicpeer-review

5 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

4 Citations (Scopus)

Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck

Wilson, I. J., Carling, P. J., Alston, C. L., Floros, V. I., Pyle, A., Hudson, G., Sallevelt, S. C. E. H., Lamperti, C., Carelli, V., Bindoff, L. A., Samuels, D. C., Wonnapinij, P., Zeviani, M., Taylor, R. W., Smeets, H. J. M., Horvath, R. & Chinnery, P. F., 1 Mar 2016, In : Human Molecular Genetics. 25, 5, p. 1031-1041

Research output: Contribution to journalArticleAcademicpeer-review

Open Access
4 Citations (Scopus)

No Fabry Disease in Patients Presenting with Isolated Small Fiber Neuropathy

de Greef, B. T. A., Hoeijmakers, J. G. J., Wolters, E. E., Smeets, H. J. M., van den Wijngaard, A., Merkies, I. S. J., Faber, K. & Gerrits, M. M., 11 Feb 2016, In : PLOS ONE. 11, 2, e0148316.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access
2 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

3 Citations (Scopus)

Polyhydramnios and cerebellar atrophy: a prenatal presentation of mitochondrial encephalomyopathy caused by mutations in the FBXL4 gene

van Rij, M. C., Jansen, F. A. R., Hellebrekers, D. M. E. I., Onkenhout, W., Smeets, B., Hendrickx, A. T., Gottschalk, R. W. H., Steggerda, S. J., Peeters-Scholte, C. M. P. C. D., Haak, M. C. & Hilhorst-Hofstee, Y., Apr 2016, In : Clinical Case Reports. 4, 4, p. 425-428

Research output: Contribution to journalEditorialAcademicpeer-review

Open Access

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
2015

Evidence of digenic inheritance in Alport syndrome

Mencarelli, M. A., Heidet, L., Storey, H., van Geel, M., Knebelmann, B., Fallerini, C., Miglietti, N., Antonucci, M. F., Cetta, F., Sayer, J. A., van den Wijngaard, A., Yau, S., Mari, F., Bruttini, M., Ariani, F., Dahan, K., Smeets, B., Antignac, C., Flinter, F. & Renieri, A., Mar 2015, In : Journal of Medical Genetics. 52, 3, p. 163-174

Research output: Contribution to journalArticleAcademicpeer-review

12 Citations (Scopus)

How do changes in the mtDNA and mitochondrial dysfunction influence cancer and cancer therapy? Challenges, opportunities and models

van Gisbergen, M. W., Voets, A. M., Starmans, M. H. W., de Coo, I. F. M., Yadak, R., Hoffmann, R. F., Boutros, P. C., Smeets, H. J. M., Dubois, L. & Lambin, P., 2015, In : Mutation Research-Reviews in Mutation Research. 764, p. 16-30

Research output: Contribution to journalArticleAcademicpeer-review

28 Citations (Scopus)

Mitochondrial DNA copy number in colorectal cancer: between tissue comparisons, clinicopathological characteristics and survival

van Osch, F. H. M., Voets, A. M., Schouten, L. J., Gottschalk, R. W. H., Simons, C. C. J. M., van Engeland, M., Lentjes, M. H. F. M., van den Brandt, P. A., Smeets, H. J. M. & Weijenberg, M. P., Dec 2015, In : Carcinogenesis. 36, 12, p. 1502-1510 9 p.

Research output: Contribution to journalArticleAcademicpeer-review

5 Citations (Scopus)

Selecting the right embryo in mitochondrial disorders

Sallevelt, S. C. E. H., Dreesen, J. C. F. M., De Coo, I. F. M., de Die-Smulders, C. E. M. & Smeets, H. J. M., 2015, Screening the Single Euploid Embryo, Molecular Genetics in Reproductive Medicine. Springer, p. 231 246 p.

Research output: Chapter in Book/Report/Conference proceedingChapterAcademic

Two Novel Mutations in the SLC25A4 Gene in a Patient with Mitochondrial Myopathy.

Körver-Keularts, I. M. L. W., de Visser, M., Bakker, H. D., Wanders, R. J. A., Vansenne, F., Scholte, H. R., Dorland, L., Nicolaes, G. A. F., Spaapen, L. M. J., Smeets, H. J. M., Hendrickx, A. T. M. & van den Bosch, B. J. C., 2015, In : JIMD reports. 22, p. 39-45 7 p.

Research output: Contribution to journalArticleAcademicpeer-review

2014

TGF-beta stimulation in human and murine cells reveals commonly affected biological processes and pathways at transcription level

Abnaof, K., Mallela, N., Walenda, G., Meurer, S. K., Sere, K., Lin, Q., Smeets, H., Hoffmann, K., Wagner, W., Zenke, M., Weiskirchen, R. & Froehlich, H., 15 May 2014, In : BMC Systems Biology. 8, 55.

Research output: Contribution to journalArticleAcademicpeer-review

5 Citations (Scopus)
2013

A multi-center comparison of diagnostic methods for the biochemical evaluation of suspected mitochondrial disorders

Rodenburg, R. J. T., Schoonderwoerd, G. C., Tiranti, V., Taylor, R. W., Roetig, A., Valente, L., Invernizzi, F., Chretien, D., He, L., Backx, G. P. B. M., Janssen, K. J. G. M., Chinnery, P. F., Smeets, H. J., de Coo, I. F. & van den Heuvel, L. P., Jan 2013, In : Mitochondrion. 13, 1, p. 36-43

Research output: Contribution to journalArticleAcademicpeer-review

5 Citations (Scopus)

Preimplantation genetic diagnosis in mitochondrial DNA disorders: challenge and success

Sallevelt, S. C. E. H., Dreesen, J. C. F. M., Drüsedau, M., Spierts, S., Coonen, E., van Tienen, F. H. J., van Golde, R. J. T., de Coo, I. F. M., Geraedts, J. P. M., de Die-Smulders, C. E. M. & Smeets, H. J. M., Feb 2013, In : Journal of Medical Genetics. 50, 2, p. 125-132 8 p.

Research output: Contribution to journalArticleAcademicpeer-review

28 Citations (Scopus)
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

17 Citations (Scopus)

Patient-derived fibroblasts indicate oxidative stress status and may justify antioxidant therapy in OXPHOS disorders

Voets, A. M., Lindsey, P. J., Vanherle, S. J. V., Timmer, E. D., Esseling, J. J., Koopman, W. J. H., Willems, P. H. G. M., Schoonderwoerd, G. C., De Groote, P., the Poll, B. T., de Coo, I. F. M. & Smeets, H. J. M., Nov 2012, In : Biochimica et Biophysica Acta-bioenergetics. 1817, 11, p. 1971-1978

Research output: Contribution to journalArticleAcademicpeer-review

PGD and heteroplasmic mitochondrial DNA point mutations: a systematic review estimating the chance of healthy offspring

Hellebrekers, D. M. E. I., Wolfe, R., Hendrickx, A. T. M., de Coo, I. F. M., de Die, C. E., Geraedts, J. P. M., Chinnery, P. F. & Smeets, H. J. M., Jul 2012, In : Human Reproduction Update. 18, 4, p. 341-349

Research output: Contribution to journalArticleAcademicpeer-review

Physical activity is the key determinant of skeletal muscle mitochondrial function in type 2 diabetes.

van Tienen, F. H. J., Praet, S. F., Feyter, H. M., van den Broek, N. M., Lindsey, P. J., Schoonderwoerd, K. G., Coo, I. F., Nicolay, K., Prompers, J. J., Smeets, H. J. M. & van Loon, L. J. C., Sep 2012, In : Journal of Clinical Endocrinology & Metabolism. 97, 9, p. 3261-3269 9 p.

Research output: Contribution to journalArticleAcademicpeer-review

35 Citations (Scopus)

Risk of psychiatric treatment for mood disorders and psychotic disorders among migrants and Dutch nationals in Utrecht, The Netherlands

Selten, J. P., Laan, W., Kupka, R., Smeets, H. M. & van Os, J., Feb 2012, In : Social Psychiatry and Psychiatric Epidemiology. 47, 2, p. 271-278

Research output: Contribution to journalArticleAcademicpeer-review

Transcriptional changes in oxphos complex i deficiency are related to anti-oxidant pathways and could explain the disturbed calcium homeostasis

Voets, A. M., Huigsloot, M., Lindsey, P. J., Leenders, A. M., Koopman, W. J. H., Willems, P., Rodenburg, R. J., Smeitink, J. A. M. & Smeets, H. J. M., 1 Jan 2012, In : Biochimica et Biophysica Acta-Molecular Basis of Disease. 1822, 7, p. 1161-1168

Research output: Contribution to journalArticleAcademicpeer-review

8 Citations (Scopus)
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

8 Citations (Scopus)