Haller RG - Search Results

1

A heterozygous truncating mutation in RRM2B causes autosomal-dominant progressive external ophthalmoplegia with multiple mtDNA deletions.

Tyynismaa H, Ylikallio E, Patel M, Molnar MJ, Haller RG, Suomalainen A. Tyynismaa H, et al. Among authors: haller rg. Am J Hum Genet. 2009 Aug;85(2):290-5. doi: 10.1016/j.ajhg.2009.07.009. Epub 2009 Aug 6. Am J Hum Genet. 2009. PMID: 19664747 Free PMC article.

2

Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance.

Mochel F, Knight MA, Tong WH, Hernandez D, Ayyad K, Taivassalo T, Andersen PM, Singleton A, Rouault TA, Fischbeck KH, Haller RG. Mochel F, et al. Among authors: haller rg. Am J Hum Genet. 2008 Mar;82(3):652-60. doi: 10.1016/j.ajhg.2007.12.012. Epub 2008 Feb 14. Am J Hum Genet. 2008. PMID: 18304497 Free PMC article.

3

Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype.

Alston CL, Compton AG, Formosa LE, Strecker V, Oláhová M, Haack TB, Smet J, Stouffs K, Diakumis P, Ciara E, Cassiman D, Romain N, Yarham JW, He L, De Paepe B, Vanlander AV, Seneca S, Feichtinger RG, Płoski R, Rokicki D, Pronicka E, Haller RG, Van Hove JL, Bahlo M, Mayr JA, Van Coster R, Prokisch H, Wittig I, Ryan MT, Thorburn DR, Taylor RW. Alston CL, et al. Among authors: haller rg. Am J Hum Genet. 2016 Jul 7;99(1):217-27. doi: 10.1016/j.ajhg.2016.05.021. Epub 2016 Jun 30. Am J Hum Genet. 2016. PMID: 27374774 Free PMC article.

4

A homoplasmic mtDNA variant can influence the phenotype of the pathogenic m.7472Cins MTTS1 mutation: are two mutations better than one?

Swalwell H, Blakely EL, Sutton R, Tonska K, Elstner M, He L, Taivassalo T, Burns DK, Turnbull DM, Haller RG, Davidson MM, Taylor RW. Swalwell H, et al. Among authors: haller rg. Eur J Hum Genet. 2008 Oct;16(10):1265-74. doi: 10.1038/ejhg.2008.65. Epub 2008 Apr 9. Eur J Hum Genet. 2008. PMID: 18398437

5

Mitochondrial abnormalities, energy deficit and oxidative stress are features of calpain 3 deficiency in skeletal muscle.

Kramerova I, Kudryashova E, Wu B, Germain S, Vandenborne K, Romain N, Haller RG, Verity MA, Spencer MJ. Kramerova I, et al. Among authors: haller rg. Hum Mol Genet. 2009 Sep 1;18(17):3194-205. doi: 10.1093/hmg/ddp257. Epub 2009 May 29. Hum Mol Genet. 2009. PMID: 19483197 Free PMC article.

6

TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies.

Powell CA, Kopajtich R, D'Souza AR, Rorbach J, Kremer LS, Husain RA, Dallabona C, Donnini C, Alston CL, Griffin H, Pyle A, Chinnery PF, Strom TM, Meitinger T, Rodenburg RJ, Schottmann G, Schuelke M, Romain N, Haller RG, Ferrero I, Haack TB, Taylor RW, Prokisch H, Minczuk M. Powell CA, et al. Among authors: haller rg. Am J Hum Genet. 2015 Aug 6;97(2):319-28. doi: 10.1016/j.ajhg.2015.06.011. Epub 2015 Jul 16. Am J Hum Genet. 2015. PMID: 26189817 Free PMC article.

7

Use of antisense oligonucleotides to correct the splicing error in ISCU myopathy patient cell lines.

Holmes-Hampton GP, Crooks DR, Haller RG, Guo S, Freier SM, Monia BP, Rouault TA. Holmes-Hampton GP, et al. Among authors: haller rg. Hum Mol Genet. 2016 Dec 1;25(23):5178-5187. doi: 10.1093/hmg/ddw338. Hum Mol Genet. 2016. PMID: 28007899 Free PMC article.

8

Recurrent myoglobinuria due to a nonsense mutation in the COX I gene of mitochondrial DNA.

Karadimas CL, Greenstein P, Sue CM, Joseph JT, Tanji K, Haller RG, Taivassalo T, Davidson MM, Shanske S, Bonilla E, DiMauro S. Karadimas CL, et al. Among authors: haller rg. Neurology. 2000 Sep 12;55(5):644-9. doi: 10.1212/wnl.55.5.644. Neurology. 2000. PMID: 10980727

9

Recurrent myoglobinuria in a sporadic patient with a novel mitochondrial DNA tRNA(Ile) mutation.

Emmanuele V, Sotiriou E, Shirazi M, Tanji K, Haller RG, Heinicke K, Bosch PE, Hirano M, DiMauro S. Emmanuele V, et al. Among authors: haller rg. J Neurol Sci. 2011 Apr 15;303(1-2):39-42. doi: 10.1016/j.jns.2011.01.018. Epub 2011 Feb 15. J Neurol Sci. 2011. PMID: 21324494 Free PMC article.

10

Pathological mechanisms underlying single large-scale mitochondrial DNA deletions.

Rocha MC, Rosa HS, Grady JP, Blakely EL, He L, Romain N, Haller RG, Newman J, McFarland R, Ng YS, Gorman GS, Schaefer AM, Tuppen HA, Taylor RW, Turnbull DM. Rocha MC, et al. Among authors: haller rg. Ann Neurol. 2018 Jan;83(1):115-130. doi: 10.1002/ana.25127. Ann Neurol. 2018. PMID: 29283441 Free PMC article.

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