Timmermans J - Search Results

1

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: timmermans j. JIMD Rep. 2015;24:69-81. doi: 10.1007/8904_2015_436. Epub 2015 May 13. JIMD Rep. 2015. PMID: 25967227 Free PMC article.

2

Is 2D speckle tracking echocardiography useful for detecting and monitoring myocardial dysfunction in adult m.3243A>G carriers? - a retrospective pilot study.

Koene S, Timmermans J, Weijers G, de Laat P, de Korte CL, Smeitink JA, Janssen MC, Kapusta L. Koene S, et al. Among authors: timmermans j. J Inherit Metab Dis. 2017 Mar;40(2):247-259. doi: 10.1007/s10545-016-0001-7. Epub 2017 Jan 4. J Inherit Metab Dis. 2017. PMID: 28054208 Free PMC article.

3

Screening and prevalence of cardiac abnormalities on electro- and echocardiography in a large cohort of patients with mitochondrial disease.

Hendrix CLF, van den Heuvel FMA, Rodwell L, Timmermans J, Nijveldt R, Janssen MCH, Saris CGJ. Hendrix CLF, et al. Among authors: timmermans j. Mol Genet Metab. 2022 Jul;136(3):219-225. doi: 10.1016/j.ymgme.2022.05.004. Epub 2022 May 28. Mol Genet Metab. 2022. PMID: 35659503 Free article.

4

Standardized multidisciplinary evaluation yields significant previously undiagnosed morbidity in adult women with Turner syndrome.

Freriks K, Timmermans J, Beerendonk CC, Verhaak CM, Netea-Maier RT, Otten BJ, Braat DD, Smeets DF, Kunst DH, Hermus AR, Timmers HJ. Freriks K, et al. Among authors: timmermans j. J Clin Endocrinol Metab. 2011 Sep;96(9):E1517-26. doi: 10.1210/jc.2011-0346. Epub 2011 Jul 13. J Clin Endocrinol Metab. 2011. PMID: 21752892

5

Effect of Mexiletine on Muscle Stiffness in Patients With Nondystrophic Myotonia Evaluated Using Aggregated N-of-1 Trials.

Stunnenberg BC, Raaphorst J, Groenewoud HM, Statland JM, Griggs RC, Woertman W, Stegeman DF, Timmermans J, Trivedi J, Matthews E, Saris CGJ, Schouwenberg BJ, Drost G, van Engelen BGM, van der Wilt GJ. Stunnenberg BC, et al. Among authors: timmermans j. JAMA. 2018 Dec 11;320(22):2344-2353. doi: 10.1001/jama.2018.18020. JAMA. 2018. PMID: 30535218 Free PMC article.

6

Combined N-of-1 trials to investigate mexiletine in non-dystrophic myotonia using a Bayesian approach; study rationale and protocol.

Stunnenberg BC, Woertman W, Raaphorst J, Statland JM, Griggs RC, Timmermans J, Saris CG, Schouwenberg BJ, Groenewoud HM, Stegeman DF, van Engelen BG, Drost G, van der Wilt GJ. Stunnenberg BC, et al. Among authors: timmermans j. BMC Neurol. 2015 Mar 25;15:43. doi: 10.1186/s12883-015-0294-4. BMC Neurol. 2015. PMID: 25880166 Free PMC article. Clinical Trial.

7

Progressive Pulmonary Artery Dilatation is Associated with Type B Aortic Dissection in Patients with Marfan Syndrome.

Brouwer C, Bulut H, van Gemert W, Staal AH, Cortenbach K, Snoeren M, Nijveldt R, Duijnhouwer A, Loeys BL, van Royen N, Timmermans J, van Kimmenade RR. Brouwer C, et al. Among authors: timmermans j. J Clin Med. 2019 Nov 2;8(11):1848. doi: 10.3390/jcm8111848. J Clin Med. 2019. PMID: 31684091 Free PMC article.

8

High T2-weighted signal intensity for risk prediction of sudden cardiac death in hypertrophic cardiomyopathy.

Gommans DHF, Cramer GE, Bakker J, Dieker HJ, Michels M, Fouraux MA, Marcelis CLM, Verheugt FWA, Timmermans J, Brouwer MA, Kofflard MJM. Gommans DHF, et al. Among authors: timmermans j. Int J Cardiovasc Imaging. 2018 Jan;34(1):113-120. doi: 10.1007/s10554-017-1252-6. Epub 2017 Oct 23. Int J Cardiovasc Imaging. 2018. PMID: 29063221 Free PMC article.

9

Uncertain diagnosis of Fabry disease: consensus recommendation on diagnosis in adults with left ventricular hypertrophy and genetic variants of unknown significance.

Smid BE, van der Tol L, Cecchi F, Elliott PM, Hughes DA, Linthorst GE, Timmermans J, Weidemann F, West ML, Biegstraaten M, Lekanne Deprez RH, Florquin S, Postema PG, Tomberli B, van der Wal AC, van den Bergh Weerman MA, Hollak CE. Smid BE, et al. Among authors: timmermans j. Int J Cardiol. 2014 Dec 15;177(2):400-8. doi: 10.1016/j.ijcard.2014.09.001. Epub 2014 Sep 20. Int J Cardiol. 2014. PMID: 25442977 Review.

10

Influence of Pregnancy on Aortic Diameter in Women With the Turner Syndrome.

Kooijman SS, Duijnhouwer AL, van Kimmenade RRJ, van Dijk APJ, Hink E, de Boer MJ, Timmermans J, Roos-Hesselink JW. Kooijman SS, et al. Among authors: timmermans j. Am J Cardiol. 2021 Feb 1;140:122-127. doi: 10.1016/j.amjcard.2020.10.047. Epub 2020 Nov 2. Am J Cardiol. 2021. PMID: 33144162

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