Holme E - Search Results

1

Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy.

Horvath R, Kemp JP, Tuppen HA, Hudson G, Oldfors A, Marie SK, Moslemi AR, Servidei S, Holme E, Shanske S, Kollberg G, Jayakar P, Pyle A, Marks HM, Holinski-Feder E, Scavina M, Walter MC, Coku J, Günther-Scholz A, Smith PM, McFarland R, Chrzanowska-Lightowlers ZM, Lightowlers RN, Hirano M, Lochmüller H, Taylor RW, Chinnery PF, Tulinius M, DiMauro S. Horvath R, et al. Among authors: holme e. Brain. 2009 Nov;132(Pt 11):3165-74. doi: 10.1093/brain/awp221. Epub 2009 Aug 31. Brain. 2009. PMID: 19720722 Free PMC article.

2

Clinical manifestation and a new ISCU mutation in iron-sulphur cluster deficiency myopathy.

Kollberg G, Tulinius M, Melberg A, Darin N, Andersen O, Holmgren D, Oldfors A, Holme E. Kollberg G, et al. Among authors: holme e. Brain. 2009 Aug;132(Pt 8):2170-9. doi: 10.1093/brain/awp152. Epub 2009 Jun 30. Brain. 2009. PMID: 19567699

3

Mitochondrial myopathy and rhabdomyolysis associated with a novel nonsense mutation in the gene encoding cytochrome c oxidase subunit I.

Kollberg G, Moslemi AR, Lindberg C, Holme E, Oldfors A. Kollberg G, et al. Among authors: holme e. J Neuropathol Exp Neurol. 2005 Feb;64(2):123-8. doi: 10.1093/jnen/64.2.123. J Neuropathol Exp Neurol. 2005. PMID: 15751226

4

The incidence of mitochondrial encephalomyopathies in childhood: clinical features and morphological, biochemical, and DNA abnormalities.

Darin N, Oldfors A, Moslemi AR, Holme E, Tulinius M. Darin N, et al. Among authors: holme e. Ann Neurol. 2001 Mar;49(3):377-83. Ann Neurol. 2001. PMID: 11261513

5

SURF1 gene mutations in three cases with Leigh syndrome and cytochrome c oxidase deficiency.

Moslemi AR, Tulinius M, Darin N, Aman P, Holme E, Oldfors A. Moslemi AR, et al. Among authors: holme e. Neurology. 2003 Oct 14;61(7):991-3. doi: 10.1212/01.wnl.0000082391.98672.0a. Neurology. 2003. PMID: 14557577

6

POLG1 mutations associated with progressive encephalopathy in childhood.

Kollberg G, Moslemi AR, Darin N, Nennesmo I, Bjarnadottir I, Uvebrant P, Holme E, Melberg A, Tulinius M, Oldfors A. Kollberg G, et al. Among authors: holme e. J Neuropathol Exp Neurol. 2006 Aug;65(8):758-68. doi: 10.1097/01.jnen.0000229987.17548.6e. J Neuropathol Exp Neurol. 2006. PMID: 16896309

7

Antisense oligonucleotide therapeutics for iron-sulphur cluster deficiency myopathy.

Kollberg G, Holme E. Kollberg G, et al. Among authors: holme e. Neuromuscul Disord. 2009 Dec;19(12):833-6. doi: 10.1016/j.nmd.2009.09.011. Epub 2009 Oct 20. Neuromuscul Disord. 2009. PMID: 19846308

8

A novel mitochondrial tRNA Arg mutation resulting in an anticodon swap in a patient with mitochondrial encephalomyopathy.

Roos S, Darin N, Kollberg G, Andersson Grönlund M, Tulinius M, Holme E, Moslemi AR, Oldfors A. Roos S, et al. Among authors: holme e. Eur J Hum Genet. 2013 May;21(5):571-3. doi: 10.1038/ejhg.2012.153. Epub 2012 Jul 11. Eur J Hum Genet. 2013. PMID: 22781096 Free PMC article.

9

Clonal expansion of mitochondrial DNA with multiple deletions in autosomal dominant progressive external ophthalmoplegia.

Moslemi AR, Melberg A, Holme E, Oldfors A. Moslemi AR, et al. Among authors: holme e. Ann Neurol. 1996 Nov;40(5):707-13. doi: 10.1002/ana.410400506. Ann Neurol. 1996. PMID: 8957011

10

Autosomal dominant progressive external ophthalmoplegia: distribution of multiple mitochondrial DNA deletions.

Moslemi AR, Melberg A, Holme E, Oldfors A. Moslemi AR, et al. Among authors: holme e. Neurology. 1999 Jul 13;53(1):79-84. doi: 10.1212/wnl.53.1.79. Neurology. 1999. PMID: 10408540

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