Smeitink J - Search Results

1

Clonal expansion of mutated mitochondrial DNA is associated with tumor formation and complex I deficiency in the benign renal oncocytoma.

Gasparre G, Hervouet E, de Laplanche E, Demont J, Pennisi LF, Colombel M, Mège-Lechevallier F, Scoazec JY, Bonora E, Smeets R, Smeitink J, Lazar V, Lespinasse J, Giraud S, Godinot C, Romeo G, Simonnet H. Gasparre G, et al. Among authors: smeitink j. Hum Mol Genet. 2008 Apr 1;17(7):986-95. doi: 10.1093/hmg/ddm371. Epub 2007 Dec 21. Hum Mol Genet. 2008. PMID: 18156159

2

CIA30 complex I assembly factor: a candidate for human complex I deficiency?

Janssen R, Smeitink J, Smeets R, van Den Heuvel L. Janssen R, et al. Among authors: smeitink j. Hum Genet. 2002 Mar;110(3):264-70. doi: 10.1007/s00439-001-0673-3. Epub 2002 Feb 1. Hum Genet. 2002. PMID: 11935339

3

Molecular characterization and mutational analysis of the human B17 subunit of the mitochondrial respiratory chain complex I.

Smeitink J, Loeffen J, Smeets R, Triepels R, Ruitenbeek W, Trijbels F, van den Heuvel L. Smeitink J, et al. Hum Genet. 1998 Aug;103(2):245-50. doi: 10.1007/s004390050813. Hum Genet. 1998. PMID: 9760212

4

The nuclear-encoded human NADH:ubiquinone oxidoreductase NDUFA8 subunit: cDNA cloning, chromosomal localization, tissue distribution, and mutation detection in complex-I-deficient patients.

Triepels R, van den Heuvel L, Loeffen J, Smeets R, Trijbels F, Smeitink J. Triepels R, et al. Among authors: smeitink j. Hum Genet. 1998 Nov;103(5):557-63. doi: 10.1007/s004390050869. Hum Genet. 1998. PMID: 9860297

5

Nuclear genes of human complex I of the mitochondrial electron transport chain: state of the art.

Smeitink JA, Loeffen JL, Triepels RH, Smeets RJ, Trijbels JM, van den Heuvel LP. Smeitink JA, et al. Hum Mol Genet. 1998;7(10):1573-9. doi: 10.1093/hmg/7.10.1573. Hum Mol Genet. 1998. PMID: 9735378 Review.

6

Analysis of mitochondrial DNA sequences in patients with isolated or combined oxidative phosphorylation system deficiency.

Hinttala R, Smeets R, Moilanen JS, Ugalde C, Uusimaa J, Smeitink JA, Majamaa K. Hinttala R, et al. Among authors: smeitink ja. J Med Genet. 2006 Nov;43(11):881-6. doi: 10.1136/jmg.2006.042168. Epub 2006 May 31. J Med Genet. 2006. PMID: 16738010 Free PMC article.

7

Mutated ND2 impairs mitochondrial complex I assembly and leads to Leigh syndrome.

Ugalde C, Hinttala R, Timal S, Smeets R, Rodenburg RJ, Uusimaa J, van Heuvel LP, Nijtmans LG, Majamaa K, Smeitink JA. Ugalde C, et al. Among authors: smeitink ja. Mol Genet Metab. 2007 Jan;90(1):10-4. doi: 10.1016/j.ymgme.2006.08.003. Epub 2006 Sep 22. Mol Genet Metab. 2007. PMID: 16996290

8

X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy.

Fernandez-Moreira D, Ugalde C, Smeets R, Rodenburg RJ, Lopez-Laso E, Ruiz-Falco ML, Briones P, Martin MA, Smeitink JA, Arenas J. Fernandez-Moreira D, et al. Among authors: smeitink ja. Ann Neurol. 2007 Jan;61(1):73-83. doi: 10.1002/ana.21036. Ann Neurol. 2007. PMID: 17262856

9

The first nuclear-encoded complex I mutation in a patient with Leigh syndrome.

Loeffen J, Smeitink J, Triepels R, Smeets R, Schuelke M, Sengers R, Trijbels F, Hamel B, Mullaart R, van den Heuvel L. Loeffen J, et al. Among authors: smeitink j. Am J Hum Genet. 1998 Dec;63(6):1598-608. doi: 10.1086/302154. Am J Hum Genet. 1998. PMID: 9837812 Free PMC article.

10

Characterization of the human complex I NDUFB7 and 17.2-kDa cDNAs and mutational analysis of 19 genes of the HP fraction in complex I-deficient-patients.

Triepels R, Smeitink J, Loeffen J, Smeets R, Trijbels F, van den Heuvel L. Triepels R, et al. Among authors: smeitink j. Hum Genet. 2000 Apr;106(4):385-91. doi: 10.1007/s004390000278. Hum Genet. 2000. PMID: 10830904

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

429 results

Search Page

Filters