Gerards M - Search Results

1

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. 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.

2

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

van Eijsden RG, Gerards M, Eijssen LM, Hendrickx AT, Jongbloed RJ, Wokke JH, Hintzen RQ, Rubio-Gozalbo ME, De Coo IF, Briem E, Tiranti V, Smeets HJ. van Eijsden RG, et al. Among authors: gerards m. Genet Med. 2006 Oct;8(10):620-7. doi: 10.1097/01.gim.0000237782.94878.05. Genet Med. 2006. PMID: 17079878 Free article.

3

mtDNA point mutations are present at various levels of heteroplasmy in human oocytes.

Jacobs L, Gerards M, Chinnery P, Dumoulin J, de Coo I, Geraedts J, Smeets H. Jacobs L, et al. Among authors: gerards m. Mol Hum Reprod. 2007 Mar;13(3):149-54. doi: 10.1093/molehr/gal112. Epub 2007 Jan 26. Mol Hum Reprod. 2007. PMID: 17259224

4

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. Mitochondrion. 2010 Aug;10(5):510-5. doi: 10.1016/j.mito.2010.05.008. Epub 2010 May 23. Mitochondrion. 2010. PMID: 20580948

5

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

Gerards M, van den Bosch BJ, Danhauser K, Serre V, van Weeghel M, Wanders RJ, Nicolaes GA, Sluiter W, Schoonderwoerd K, Scholte HR, Prokisch H, Rötig A, de Coo IF, Smeets HJ. Gerards M, et al. Brain. 2011 Jan;134(Pt 1):210-9. doi: 10.1093/brain/awq273. Epub 2010 Oct 7. Brain. 2011. PMID: 20929961

6

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 AP, Hendrickx AT, Smeets HJ, Van Camp G. Bonneux S, et al. Among authors: gerards m. Mitochondrion. 2011 Sep;11(5):729-34. doi: 10.1016/j.mito.2011.05.008. Epub 2011 May 30. Mitochondrion. 2011. PMID: 21645648

7

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: gerards m. 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

8

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. Brain. 2013 Mar;136(Pt 3):882-90. doi: 10.1093/brain/awt013. Epub 2013 Feb 18. Brain. 2013. PMID: 23423671

9

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

Gerards M, de Coo R, Smeets H. Gerards M, et al. Brain. 2014 Sep;137(Pt 9):e296. doi: 10.1093/brain/awu129. Epub 2014 May 30. Brain. 2014. PMID: 24878501 No abstract available.

10

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

Nguyen M, Boesten I, Hellebrekers DM, Vanoevelen J, Kamps R, de Koning B, de Coo IF, Gerards M, Smeets HJ. Nguyen M, et al. Among authors: gerards m. Eur J Hum Genet. 2016 Apr;24(4):619-22. doi: 10.1038/ejhg.2015.158. Epub 2015 Jul 22. Eur J Hum Genet. 2016. PMID: 26197978 Free PMC article.

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