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Page 1
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. Gerards M, et al. Among authors: van der kooi a, van den bosch b, van engelen k. Mitochondrion. 2010 Aug;10(5):510-5. doi: 10.1016/j.mito.2010.05.008. Epub 2010 May 23. Mitochondrion. 2010. PMID: 20580948
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 HR, de Angst I, Schoonderwoerd K, Sefiani A, Ratbi I, Coppieters W, Karim L, de Coo R, van den Bosch B, Smeets H. Gerards M, et al. Among authors: van den bosch b, van oevelen j. Brain. 2013 Mar;136(Pt 3):882-90. doi: 10.1093/brain/awt013. Epub 2013 Feb 18. Brain. 2013. PMID: 23423671
Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome.
Gerards M, Sluiter W, van den Bosch BJ, de Wit LE, Calis CM, Frentzen M, Akbari H, Schoonderwoerd K, Scholte HR, Jongbloed RJ, Hendrickx AT, de Coo IF, Smeets HJ. Gerards M, et al. Among authors: van den bosch bj. J Med Genet. 2010 Aug;47(8):507-12. doi: 10.1136/jmg.2009.067553. Epub 2009 Jun 18. J Med Genet. 2010. PMID: 19542079 Free PMC article.
Large scale mtDNA sequencing reveals sequence and functional conservation as major determinants of homoplasmic mtDNA variant distribution.
Voets AM, van den Bosch BJ, Stassen AP, Hendrickx AT, Hellebrekers DM, Van Laer L, Van Eyken E, Van Camp G, Pyle A, Baudouin SV, Chinnery PF, Smeets HJ. Voets AM, et al. Among authors: van den bosch bj, van eyken e, van laer l, van camp g. Mitochondrion. 2011 Nov;11(6):964-72. doi: 10.1016/j.mito.2011.09.003. Epub 2011 Sep 17. Mitochondrion. 2011. PMID: 21946566 Free PMC article.
Defective NDUFA9 as a novel cause of neonatally fatal complex I disease.
van den Bosch BJ, Gerards M, Sluiter W, Stegmann AP, Jongen EL, Hellebrekers DM, Oegema R, Lambrichs EH, Prokisch H, Danhauser K, Schoonderwoerd K, de Coo IF, Smeets HJ. van den Bosch BJ, et al. J Med Genet. 2012 Jan;49(1):10-5. doi: 10.1136/jmedgenet-2011-100466. Epub 2011 Nov 23. J Med Genet. 2012. PMID: 22114105
Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease.
Kamps R, Szklarczyk R, Theunissen TE, Hellebrekers DMEI, Sallevelt SCEH, Boesten IB, de Koning B, van den Bosch BJ, Salomons GS, Simas-Mendes M, Verdijk R, Schoonderwoerd K, de Coo IFM, Vanoevelen JM, Smeets HJM. Kamps R, et al. Among authors: van den bosch bj. Eur J Hum Genet. 2018 Apr;26(4):537-551. doi: 10.1038/s41431-017-0058-2. Epub 2018 Feb 13. Eur J Hum Genet. 2018. PMID: 29440775 Free PMC article.
Post-natal myogenic and adipogenic developmental: defects and metabolic impairment upon loss of A-type lamins.
Kubben N, Voncken JW, Konings G, van Weeghel M, van den Hoogenhof MM, Gijbels M, van Erk A, Schoonderwoerd K, van den Bosch B, Dahlmans V, Calis C, Houten SM, Misteli T, Pinto YM. Kubben N, et al. Among authors: van weeghel m, van den hoogenhof mm, van den bosch b, van erk a. Nucleus. 2011 May-Jun;2(3):195-207. doi: 10.4161/nucl.2.3.15731. Nucleus. 2011. PMID: 21818413 Free PMC article.
Differences in Strength and Timing of the mtDNA Bottleneck between Zebrafish Germline and Non-germline Cells.
Otten AB, Theunissen TE, Derhaag JG, Lambrichs EH, Boesten IB, Winandy M, van Montfoort AP, Tarbashevich K, Raz E, Gerards M, Vanoevelen JM, van den Bosch BJ, Muller M, Smeets HJ. Otten AB, et al. Among authors: van montfoort ap, van den bosch bj. Cell Rep. 2016 Jul 19;16(3):622-30. doi: 10.1016/j.celrep.2016.06.023. Epub 2016 Jun 30. Cell Rep. 2016. PMID: 27373161 Free article.
60 results