Holme E - Search Results

1

Genotypes and clinical phenotypes in children with cytochrome-c oxidase deficiency.

Darin N, Moslemi AR, Lebon S, Rustin P, Holme E, Oldfors A, Tulinius M. Darin N, et al. Among authors: holme e. Neuropediatrics. 2003 Dec;34(6):311-7. doi: 10.1055/s-2003-44670. Neuropediatrics. 2003. PMID: 14681757 Review.

2

Profound biotinidase deficiency: a rare disease among native Swedes.

Ohlsson A, Guthenberg C, Holme E, von Döbeln U. Ohlsson A, et al. Among authors: holme e. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S175-80. doi: 10.1007/s10545-010-9065-y. Epub 2010 Mar 12. J Inherit Metab Dis. 2010. PMID: 20224900

3

Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients.

Carrozzo R, Verrigni D, Rasmussen M, de Coo R, Amartino H, Bianchi M, Buhas D, Mesli S, Naess K, Born AP, Woldseth B, Prontera P, Batbayli M, Ravn K, Joensen F, Cordelli DM, Santorelli FM, Tulinius M, Darin N, Duno M, Jouvencel P, Burlina A, Stangoni G, Bertini E, Redonnet-Vernhet I, Wibrand F, Dionisi-Vici C, Uusimaa J, Vieira P, Osorio AN, McFarland R, Taylor RW, Holme E, Ostergaard E. Carrozzo R, et al. Among authors: holme e. J Inherit Metab Dis. 2016 Mar;39(2):243-52. doi: 10.1007/s10545-015-9894-9. Epub 2015 Oct 16. J Inherit Metab Dis. 2016. PMID: 26475597

4

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.

5

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

6

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.

7

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

8

Novel mutations in the thymidine kinase 2 gene (TK2) associated with fatal mitochondrial myopathy and mitochondrial DNA depletion.

Tulinius M, Moslemi AR, Darin N, Holme E, Oldfors A. Tulinius M, et al. Among authors: holme e. Neuromuscul Disord. 2005 Jun;15(6):412-5. doi: 10.1016/j.nmd.2005.03.010. Neuromuscul Disord. 2005. PMID: 15907288

9

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

10

Low frequency of mtDNA point mutations in patients with PEO associated with POLG1 mutations.

Kollberg G, Jansson M, Pérez-Bercoff A, Melberg A, Lindberg C, Holme E, Moslemi AR, Oldfors A. Kollberg G, et al. Among authors: holme e. Eur J Hum Genet. 2005 Apr;13(4):463-9. doi: 10.1038/sj.ejhg.5201341. Eur J Hum Genet. 2005. PMID: 15702133

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