de Laat P - Search Results

1

de Laat P, Koene S, Heuvel LP, Rodenburg RJ, Janssen MC, Smeitink JA. de Laat P, et al. JIMD Rep. 2013;8:47-50. doi: 10.1007/8904_2012_159. Epub 2012 Jul 6. JIMD Rep. 2013. PMID: 23430519 Free PMC article.

2

Clinical features and heteroplasmy in blood, urine and saliva in 34 Dutch families carrying the m.3243A > G mutation.

de Laat P, Koene S, van den Heuvel LP, Rodenburg RJ, Janssen MC, Smeitink JA. de Laat P, et al. J Inherit Metab Dis. 2012 Nov;35(6):1059-69. doi: 10.1007/s10545-012-9465-2. Epub 2012 Mar 9. J Inherit Metab Dis. 2012. PMID: 22403016 Free PMC article.

3

Mitochondrial retinal dystrophy associated with the m.3243A>G mutation.

de Laat P, Smeitink JAM, Janssen MCH, Keunen JEE, Boon CJF. de Laat P, et al. Ophthalmology. 2013 Dec;120(12):2684-2696. doi: 10.1016/j.ophtha.2013.05.013. Epub 2013 Jun 24. Ophthalmology. 2013. PMID: 23806424

4

Serum FGF21 levels in adult m.3243A>G carriers: clinical implications.

Koene S, de Laat P, van Tienoven DH, Vriens D, Brandt AM, Sweep FC, Rodenburg RJ, Donders AR, Janssen MC, Smeitink JA. Koene S, et al. Among authors: de laat p. Neurology. 2014 Jul 8;83(2):125-33. doi: 10.1212/WNL.0000000000000578. Epub 2014 Jun 6. Neurology. 2014. PMID: 24907231

5

Serum GDF15 Levels Correlate to Mitochondrial Disease Severity and Myocardial Strain, but Not to Disease Progression in Adult m.3243A>G Carriers.

Koene S, de Laat P, van Tienoven DH, Weijers G, Vriens D, Sweep FC, Timmermans J, Kapusta L, Janssen MC, Smeitink JA. Koene S, et al. Among authors: de laat p. JIMD Rep. 2015;24:69-81. doi: 10.1007/8904_2015_436. Epub 2015 May 13. JIMD Rep. 2015. PMID: 25967227 Free PMC article.

6

Obstetric complications in carriers of the m.3243A>G mutation, a retrospective cohort study on maternal and fetal outcome.

de Laat P, Fleuren LH, Bekker MN, Smeitink JA, Janssen MC. de Laat P, et al. Mitochondrion. 2015 Nov;25:98-103. doi: 10.1016/j.mito.2015.10.005. Epub 2015 Oct 9. Mitochondrion. 2015. PMID: 26455484

7

Quality of life, fatigue and mental health in patients with the m.3243A > G mutation and its correlates with genetic characteristics and disease manifestation.

Verhaak C, de Laat P, Koene S, Tibosch M, Rodenburg R, de Groot I, Knoop H, Janssen M, Smeitink J. Verhaak C, et al. Among authors: de groot i, de laat p. Orphanet J Rare Dis. 2016 Mar 18;11:25. doi: 10.1186/s13023-016-0403-5. Orphanet J Rare Dis. 2016. PMID: 26988355 Free PMC article.

8

Three families with 'de novo' m.3243A > G mutation.

de Laat P, Janssen MC, Alston CL, Taylor RW, Rodenburg RJ, Smeitink JA. de Laat P, et al. BBA Clin. 2016 Apr 29;6:19-24. doi: 10.1016/j.bbacli.2016.04.007. eCollection 2016 Dec. BBA Clin. 2016. PMID: 27331024 Free PMC article.

9

Fear of disease progression in carriers of the m.3243A > G mutation.

Custers JAE, de Laat P, Koene S, Smeitink J, Janssen MCH, Verhaak C. Custers JAE, et al. Among authors: de laat p. Orphanet J Rare Dis. 2018 Nov 13;13(1):203. doi: 10.1186/s13023-018-0951-y. Orphanet J Rare Dis. 2018. PMID: 30424784 Free PMC article.

10

Intra-patient variability of heteroplasmy levels in urinary epithelial cells in carriers of the m.3243A>G mutation.

de Laat P, Rodenburg RJ, Smeitink JAM, Janssen MCH. de Laat P, et al. Mol Genet Genomic Med. 2019 Feb;7(2):e00523. doi: 10.1002/mgg3.523. Epub 2018 Dec 4. Mol Genet Genomic Med. 2019. PMID: 30516030 Free PMC article.

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