Gerards M - Search Results

1

Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background.

Hudson G, Carelli V, Spruijt L, Gerards M, Mowbray C, Achilli A, Pyle A, Elson J, Howell N, La Morgia C, Valentino ML, Huoponen K, Savontaus ML, Nikoskelainen E, Sadun AA, Salomao SR, Belfort R Jr, Griffiths P, Yu-Wai-Man P, de Coo RF, Horvath R, Zeviani M, Smeets HJ, Torroni A, Chinnery PF. Hudson G, et al. Among authors: gerards m. Am J Hum Genet. 2007 Aug;81(2):228-33. doi: 10.1086/519394. Epub 2007 Jun 4. Am J Hum Genet. 2007. PMID: 17668373 Free PMC article.

2

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

3

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

4

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.

5

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

6

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.

7

Replication Errors Made During Oogenesis Lead to Detectable De Novo mtDNA Mutations in Zebrafish Oocytes with a Low mtDNA Copy Number.

Otten AB, Stassen AP, Adriaens M, Gerards M, Dohmen RG, Timmer AJ, Vanherle SJ, Kamps R, Boesten IB, Vanoevelen JM, Muller M, Smeets HJ. Otten AB, et al. Among authors: gerards m. Genetics. 2016 Dec;204(4):1423-1431. doi: 10.1534/genetics.116.194035. Epub 2016 Oct 21. Genetics. 2016. PMID: 27770035 Free PMC article.

8

Novel pathogenic SLC25A46 splice-site mutation causes an optic atrophy spectrum disorder.

Nguyen M, Boesten I, Hellebrekers DM, Mulder-den Hartog NM, de Coo IF, Smeets HJ, Gerards M. Nguyen M, et al. Among authors: gerards m. Clin Genet. 2017 Jan;91(1):121-125. doi: 10.1111/cge.12774. Epub 2016 Apr 8. Clin Genet. 2017. PMID: 26951855

9

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

10

Leigh syndrome: Resolving the clinical and genetic heterogeneity paves the way for treatment options.

Gerards M, Sallevelt SC, Smeets HJ. Gerards M, et al. Mol Genet Metab. 2016 Mar;117(3):300-12. doi: 10.1016/j.ymgme.2015.12.004. Epub 2015 Dec 19. Mol Genet Metab. 2016. PMID: 26725255 Review.

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