Wibrand F - Search Results

1

Elucidating the molecular mechanisms associated with TARS2-related mitochondrial disease.

Zheng WQ, Pedersen SV, Thompson K, Bellacchio E, French CE, Munro B, Pearson TS, Vogt J, Diodato D, Diemer T, Ernst A, Horvath R, Chitre M, Ek J, Wibrand F, Grange DK, Raymond L, Zhou XL, Taylor RW, Ostergaard E. Zheng WQ, et al. Among authors: wibrand f. Hum Mol Genet. 2022 Feb 21;31(4):523-534. doi: 10.1093/hmg/ddab257. Hum Mol Genet. 2022. PMID: 34508595

2

An mtDNA mutation, 14453G-->A, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndrome.

Ravn K, Wibrand F, Hansen FJ, Horn N, Rosenberg T, Schwartz M. Ravn K, et al. Among authors: wibrand f. Eur J Hum Genet. 2001 Oct;9(10):805-9. doi: 10.1038/sj.ejhg.5200712. Eur J Hum Genet. 2001. PMID: 11781695

3

[Mitochondrial diseases. Clinical features, investigation and genetics].

Østergaard E, Wibrand F, Horn N, Brøndum-Nielsen K. Østergaard E, et al. Among authors: wibrand f. Ugeskr Laeger. 2003 Feb 10;165(7):663-8. Ugeskr Laeger. 2003. PMID: 12617042 Review. Danish.

4

Impaired energy metabolism and abnormal muscle histology in mut- methylmalonic aciduria.

Østergaard E, Wibrand F, Ørngreen MC, Vissing J, Horn N. Østergaard E, et al. Among authors: wibrand f. Neurology. 2005 Sep 27;65(6):931-3. doi: 10.1212/01.wnl.0000176065.80560.26. Neurology. 2005. PMID: 16186538

5

Hypertrichosis in patients with SURF1 mutations.

Ostergaard E, Bradinova I, Ravn SH, Hansen FJ, Simeonov E, Christensen E, Wibrand F, Schwartz M. Ostergaard E, et al. Among authors: wibrand f. Am J Med Genet A. 2005 Nov 1;138(4):384-8. doi: 10.1002/ajmg.a.30972. Am J Med Genet A. 2005. PMID: 16222681

6

Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations.

Ostergaard E, Hansen FJ, Sorensen N, Duno M, Vissing J, Larsen PL, Faeroe O, Thorgrimsson S, Wibrand F, Christensen E, Schwartz M. Ostergaard E, et al. Among authors: wibrand f. Brain. 2007 Mar;130(Pt 3):853-61. doi: 10.1093/brain/awl383. Epub 2007 Feb 7. Brain. 2007. PMID: 17287286

7

Deficiency of the alpha subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion.

Ostergaard E, Christensen E, Kristensen E, Mogensen B, Duno M, Shoubridge EA, Wibrand F. Ostergaard E, et al. Among authors: wibrand f. Am J Hum Genet. 2007 Aug;81(2):383-7. doi: 10.1086/519222. Epub 2007 Jun 4. Am J Hum Genet. 2007. PMID: 17668387 Free PMC article.

8

Four novel PDHA1 mutations in pyruvate dehydrogenase deficiency.

Ostergaard E, Moller LB, Kalkanoglu-Sivri HS, Dursun A, Kibaek M, Thelle T, Christensen E, Duno M, Wibrand F. Ostergaard E, et al. Among authors: wibrand f. J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S235-9. doi: 10.1007/s10545-009-1179-8. Epub 2009 Jun 11. J Inherit Metab Dis. 2009. PMID: 19517265

9

Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect.

Antonicka H, Ostergaard E, Sasarman F, Weraarpachai W, Wibrand F, Pedersen AM, Rodenburg RJ, van der Knaap MS, Smeitink JA, Chrzanowska-Lightowlers ZM, Shoubridge EA. Antonicka H, et al. Among authors: wibrand f. Am J Hum Genet. 2010 Jul 9;87(1):115-22. doi: 10.1016/j.ajhg.2010.06.004. Am J Hum Genet. 2010. PMID: 20598281 Free PMC article.

10

Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndrome.

Ostergaard E, Rodenburg RJ, van den Brand M, Thomsen LL, Duno M, Batbayli M, Wibrand F, Nijtmans L. Ostergaard E, et al. Among authors: wibrand f. J Med Genet. 2011 Nov;48(11):737-40. doi: 10.1136/jmg.2011.088856. Epub 2011 May 26. J Med Genet. 2011. PMID: 21617257

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