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Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects.
Theunissen TE, Szklarczyk R, Gerards M, Hellebrekers DM, Mulder-Den Hartog EN, Vanoevelen J, Kamps R, de Koning B, Rutledge SL, Schmitt-Mechelke T, van Berkel CG, van der Knaap MS, de Coo IF, Smeets HJ. Theunissen TE, et al. Among authors: hellebrekers dm. Front Neurol. 2016 Nov 16;7:203. doi: 10.3389/fneur.2016.00203. eCollection 2016. Front Neurol. 2016. PMID: 27899912 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: hellebrekers dm. 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. Among authors: hellebrekers dm. 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
Polyhydramnios and cerebellar atrophy: a prenatal presentation of mitochondrial encephalomyopathy caused by mutations in the FBXL4 gene.
van Rij MC, Jansen FA, Hellebrekers DM, Onkenhout W, Smeets HJ, Hendrickx AT, Gottschalk RW, Steggerda SJ, Peeters-Scholte CM, Haak MC, Hilhorst-Hofstee Y. van Rij MC, et al. Among authors: hellebrekers dm. Clin Case Rep. 2016 Mar 16;4(4):425-8. doi: 10.1002/ccr3.511. eCollection 2016 Apr. Clin Case Rep. 2016. PMID: 27099744 Free PMC article.
De novo mtDNA point mutations are common and have a low recurrence risk.
Sallevelt SC, de Die-Smulders CE, Hendrickx AT, Hellebrekers DM, de Coo IF, Alston CL, Knowles C, Taylor RW, McFarland R, Smeets HJ. Sallevelt SC, et al. Among authors: hellebrekers dm. J Med Genet. 2017 Feb;54(2):73-83. doi: 10.1136/jmedgenet-2016-103876. Epub 2016 Jul 22. J Med Genet. 2017. PMID: 27450679 Free PMC article.
52 results