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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1992 2
1995 5
1996 1
1998 2
1999 2
2000 4
2001 2
2002 4
2003 2
2004 3
2005 2
2006 4
2007 8
2008 6
2009 5
2010 4
2011 8
2012 10
2013 7
2014 3
2015 2
2016 3
2017 4
2018 3
2020 2
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86 results
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Page 1
A Heterozygous NDUFV1 Variant Aggravates Mitochondrial Complex I Deficiency in a Family with a Homoplasmic ND1 Variant.
Baertling F, Sánchez-Caballero L, van den Brand MAM, Distelmaier F, Janssen MCH, Rodenburg RJT, Smeitink JAM, Nijtmans LGJ. Baertling F, et al. Among authors: Nijtmans LGJ. J Pediatr. 2018 May;196:309-313.e3. doi: 10.1016/j.jpeds.2017.12.043. Epub 2018 Feb 13. J Pediatr. 2018. PMID: 29395179
NDUFA9 point mutations cause a variable mitochondrial complex I assembly defect.
Baertling F, Sánchez-Caballero L, van den Brand MAM, Fung CW, Chan SH, Wong VC, Hellebrekers DME, de Coo IFM, Smeitink JAM, Rodenburg RJT, Nijtmans LGJ. Baertling F, et al. Among authors: Nijtmans LGJ. Clin Genet. 2018 Jan;93(1):111-118. doi: 10.1111/cge.13089. Epub 2017 Nov 21. Clin Genet. 2018. PMID: 28671271
Mutation in mitochondrial complex IV subunit COX5A causes pulmonary arterial hypertension, lactic acidemia, and failure to thrive.
Baertling F, Al-Murshedi F, Sánchez-Caballero L, Al-Senaidi K, Joshi NP, Venselaar H, van den Brand MA, Nijtmans LG, Rodenburg RJ. Baertling F, et al. Among authors: Nijtmans LG. Hum Mutat. 2017 Jun;38(6):692-703. doi: 10.1002/humu.23210. Epub 2017 Mar 23. Hum Mutat. 2017. PMID: 28247525
Mutations in mitochondrial complex I assembly factor NDUFAF3 cause Leigh syndrome.
Baertling F, Sánchez-Caballero L, Timal S, van den Brand MA, Ngu LH, Distelmaier F, Rodenburg RJ, Nijtmans LG. Baertling F, et al. Among authors: Nijtmans LG. Mol Genet Metab. 2017 Mar;120(3):243-246. doi: 10.1016/j.ymgme.2016.12.005. Epub 2016 Dec 11. Mol Genet Metab. 2017. PMID: 27986404
Mutations in COA6 cause cytochrome c oxidase deficiency and neonatal hypertrophic cardiomyopathy.
Baertling F, A M van den Brand M, Hertecant JL, Al-Shamsi A, P van den Heuvel L, Distelmaier F, Mayatepek E, Smeitink JA, Nijtmans LG, Rodenburg RJ. Baertling F, et al. Among authors: Nijtmans LG. Hum Mutat. 2015 Jan;36(1):34-8. doi: 10.1002/humu.22715. Epub 2014 Nov 18. Hum Mutat. 2015. PMID: 25339201
Increased mitochondrial ATP production capacity in brain of healthy mice and a mouse model of isolated complex I deficiency after isoflurane anesthesia.
Manjeri GR, Rodenburg RJ, Blanchet L, Roelofs S, Nijtmans LG, Smeitink JA, Driessen JJ, Koopman WJ, Willems PH. Manjeri GR, et al. Among authors: Nijtmans LG. J Inherit Metab Dis. 2016 Jan;39(1):59-65. doi: 10.1007/s10545-015-9885-x. Epub 2015 Aug 27. J Inherit Metab Dis. 2016. PMID: 26310962 Free PMC article.
NDUFAF4 variants are associated with Leigh syndrome and cause a specific mitochondrial complex I assembly defect.
Baertling F, Sánchez-Caballero L, van den Brand MAM, Wintjes LT, Brink M, van den Brandt FA, Wilson C, Rodenburg RJT, Nijtmans LGJ. Baertling F, et al. Among authors: Nijtmans LGJ. Eur J Hum Genet. 2017 Nov;25(11):1273-1277. doi: 10.1038/ejhg.2017.133. Epub 2017 Aug 30. Eur J Hum Genet. 2017. PMID: 28853723 Free PMC article.
Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency.
Sánchez-Caballero L, Ruzzenente B, Bianchi L, Assouline Z, Barcia G, Metodiev MD, Rio M, Funalot B, van den Brand MA, Guerrero-Castillo S, Molenaar JP, Koolen D, Brandt U, Rodenburg RJ, Nijtmans LG, Rötig A. Sánchez-Caballero L, et al. Among authors: Nijtmans LG. Am J Hum Genet. 2016 Jul 7;99(1):208-16. doi: 10.1016/j.ajhg.2016.05.022. Epub 2016 Jun 30. Am J Hum Genet. 2016. PMID: 27374773 Free PMC article.
Corrigendum to "Mitigation of NADH:ubiquinone oxidoreductase deficiency by chronic Trolox treatment" [Biochimica et Biophysica Acta 1777/7-8 (2008) 853-859].
Koopman WJH, Verkaart S, van Emst-de Vries SE, Grefte S, Smeitink JAM, Nijtmans LGJ, Willems PHGM. Koopman WJH, et al. Among authors: Nijtmans LGJ. Biochim Biophys Acta Bioenerg. 2018 Dec;1859(12):1328. doi: 10.1016/j.bbabio.2018.06.003. Epub 2018 Jun 6. Biochim Biophys Acta Bioenerg. 2018. PMID: 29883590 Free article. No abstract available.
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