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Items: 1 to 20 of 104

1.

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.

Orphanet J Rare Dis. 2018 Nov 13;13(1):203. doi: 10.1186/s13023-018-0951-y.

2.

The KHENERGY Study: Safety and Efficacy of KH176 in Mitochondrial m.3243A>G Spectrum Disorders.

Janssen MCH, Koene S, de Laat P, Hemelaar P, Pickkers P, Spaans E, Beukema R, Beyrath J, Groothuis J, Verhaak C, Smeitink J.

Clin Pharmacol Ther. 2018 Jul 30. doi: 10.1002/cpt.1197. [Epub ahead of print]

PMID:
30058726
3.

Outcome measures for children with mitochondrial disease: consensus recommendations for future studies from a Delphi-based international workshop.

Koene S, van Bon L, Bertini E, Jimenez-Moreno C, van der Giessen L, de Groot I, McFarland R, Parikh S, Rahman S, Wood M, Zeman J, Janssen A, Smeitink J.

J Inherit Metab Dis. 2018 Jul 19. doi: 10.1007/s10545-018-0229-5. [Epub ahead of print]

PMID:
30027425
4.

Quantification of gait in children with mitochondrial disease.

Koene S, Stolwijk NM, Ramakers R, de Vries M, de Boer L, Janssen MCH, de Groot I, Smeitink J.

J Inherit Metab Dis. 2018 Jul;41(4):731-740. doi: 10.1007/s10545-018-0148-5. Epub 2018 Mar 12.

PMID:
29532198
5.

The genotypic and phenotypic spectrum of MTO1 deficiency.

O'Byrne JJ, Tarailo-Graovac M, Ghani A, Champion M, Deshpande C, Dursun A, Ozgul RK, Freisinger P, Garber I, Haack TB, Horvath R, Barić I, Husain RA, Kluijtmans LAJ, Kotzaeridou U, Morris AA, Ross CJ, Santra S, Smeitink J, Tarnopolsky M, Wortmann SB, Mayr JA, Brunner-Krainz M, Prokisch H, Wasserman WW, Wevers RA, Engelke UF, Rodenburg RJ, Ting TW, McFarland R, Taylor RW, Salvarinova R, van Karnebeek CDM.

Mol Genet Metab. 2018 Jan;123(1):28-42. doi: 10.1016/j.ymgme.2017.11.003. Epub 2017 Nov 15.

6.

Erratum to: Quantification of gait in mitochondrial m.3243A > G patients: a validation study.

Ramakers R, Koene S, Groothuis JT, de Laat P, Janssen MCH, Smeitink J.

Orphanet J Rare Dis. 2017 Oct 27;12(1):170. doi: 10.1186/s13023-017-0688-z. No abstract available.

7.

KH176 under development for rare mitochondrial disease: a first in man randomized controlled clinical trial in healthy male volunteers.

Koene S, Spaans E, Van Bortel L, Van Lancker G, Delafontaine B, Badilini F, Beyrath J, Smeitink J.

Orphanet J Rare Dis. 2017 Oct 16;12(1):163. doi: 10.1186/s13023-017-0715-0.

8.

ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism.

Desai R, Frazier AE, Durigon R, Patel H, Jones AW, Dalla Rosa I, Lake NJ, Compton AG, Mountford HS, Tucker EJ, Mitchell ALR, Jackson D, Sesay A, Di Re M, van den Heuvel LP, Burke D, Francis D, Lunke S, McGillivray G, Mandelstam S, Mochel F, Keren B, Jardel C, Turner AM, Ian Andrews P, Smeitink J, Spelbrink JN, Heales SJ, Kohda M, Ohtake A, Murayama K, Okazaki Y, Lombès A, Holt IJ, Thorburn DR, Spinazzola A.

Brain. 2017 Jun 1;140(6):1595-1610. doi: 10.1093/brain/awx094.

9.

Quantification of gait in mitochondrial m.3243A > G patients: a validation study.

Ramakers R, Koene S, Groothuis JT, de Laat P, Janssen MC, Smeitink J.

Orphanet J Rare Dis. 2017 May 15;12(1):91. doi: 10.1186/s13023-017-0644-y. Erratum in: Orphanet J Rare Dis. 2017 Oct 27;12 (1):170.

10.

Radboud Centre for Mitochondrial Medicine Pediatric MRI score.

Wong SS, Goraj B, Fung CW, Vister J, de Boer L, Koene S, Smeitink J.

Mitochondrion. 2017 Jan;32:36-41. doi: 10.1016/j.mito.2016.11.008. Epub 2016 Nov 16.

PMID:
27865797
11.

FGF21 is a biomarker for mitochondrial translation and mtDNA maintenance disorders.

Lehtonen JM, Forsström S, Bottani E, Viscomi C, Baris OR, Isoniemi H, Höckerstedt K, Österlund P, Hurme M, Jylhävä J, Leppä S, Markkula R, Heliö T, Mombelli G, Uusimaa J, Laaksonen R, Laaksovirta H, Auranen M, Zeviani M, Smeitink J, Wiesner RJ, Nakada K, Isohanni P, Suomalainen A.

Neurology. 2016 Nov 29;87(22):2290-2299. Epub 2016 Oct 28.

12.

Bromodomain Inhibitors Correct Bioenergetic Deficiency Caused by Mitochondrial Disease Complex I Mutations.

Barrow JJ, Balsa E, Verdeguer F, Tavares CD, Soustek MS, Hollingsworth LR 4th, Jedrychowski M, Vogel R, Paulo JA, Smeitink J, Gygi SP, Doench J, Root DE, Puigserver P.

Mol Cell. 2016 Oct 6;64(1):163-175. doi: 10.1016/j.molcel.2016.08.023. Epub 2016 Sep 22.

13.

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.

Orphanet J Rare Dis. 2016 Mar 18;11:25. doi: 10.1186/s13023-016-0403-5.

14.

Transcriptome analysis of complex I-deficient patients reveals distinct expression programs for subunits and assembly factors of the oxidative phosphorylation system.

van der Lee R, Szklarczyk R, Smeitink J, Smeets HJ, Huynen MA, Vogel R.

BMC Genomics. 2015 Sep 15;16:691. doi: 10.1186/s12864-015-1883-8.

15.

'Splitting versus lumping': Temple-Baraitser and Zimmermann-Laband Syndromes.

Bramswig NC, Ockeloen CW, Czeschik JC, van Essen AJ, Pfundt R, Smeitink J, Poll-The BT, Engels H, Strom TM, Wieczorek D, Kleefstra T, Lüdecke HJ.

Hum Genet. 2015 Oct;134(10):1089-97. doi: 10.1007/s00439-015-1590-1. Epub 2015 Aug 12.

PMID:
26264464
16.

MtDNA mutagenesis impairs elimination of mitochondria during erythroid maturation leading to enhanced erythrocyte destruction.

Ahlqvist KJ, Leoncini S, Pecorelli A, Wortmann SB, Ahola S, Forsström S, Guerranti R, De Felice C, Smeitink J, Ciccoli L, Hämäläinen RH, Suomalainen A.

Nat Commun. 2015 Mar 9;6:6494. doi: 10.1038/ncomms7494.

PMID:
25751021
17.

Mitochondrial diseases: Drosophila melanogaster as a model to evaluate potential therapeutics.

Foriel S, Willems P, Smeitink J, Schenck A, Beyrath J.

Int J Biochem Cell Biol. 2015 Jun;63:60-5. doi: 10.1016/j.biocel.2015.01.024. Epub 2015 Feb 7. Review.

PMID:
25666557
18.

New treatments for mitochondrial disease-no time to drop our standards.

Pfeffer G, Horvath R, Klopstock T, Mootha VK, Suomalainen A, Koene S, Hirano M, Zeviani M, Bindoff LA, Yu-Wai-Man P, Hanna M, Carelli V, McFarland R, Majamaa K, Turnbull DM, Smeitink J, Chinnery PF.

Nat Rev Neurol. 2013 Aug;9(8):474-81. doi: 10.1038/nrneurol.2013.129. Epub 2013 Jul 2. Review.

19.

Problems of adults with a mitochondrial disease - the patients' perspective: focus on loss.

Noorda G, van Achterberg T, van der Hooft T, Smeitink J, Schoonhoven L, van Engelen B.

JIMD Rep. 2012;6:85-94. doi: 10.1007/8904_2011_121. Epub 2012 Feb 24.

20.

Leigh syndrome associated with mitochondrial complex I deficiency due to novel mutations In NDUFV1 and NDUFS2.

Marin SE, Mesterman R, Robinson B, Rodenburg RJ, Smeitink J, Tarnopolsky MA.

Gene. 2013 Mar 1;516(1):162-7. doi: 10.1016/j.gene.2012.12.024. Epub 2012 Dec 22.

PMID:
23266820

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