Darin N - Search Results

1

COX deficiency and leukoencephalopathy due to a novel homozygous APOPT1/COA8 mutation.

Hedberg-Oldfors C, Darin N, Thomsen C, Lindberg C, Oldfors A. Hedberg-Oldfors C, et al. Among authors: darin n. Neurol Genet. 2020 Jun 16;6(4):e464. doi: 10.1212/NXG.0000000000000464. eCollection 2020 Aug. Neurol Genet. 2020. PMID: 32637636 Free PMC article.

2

A new early-onset neuromuscular disorder associated with kyphoscoliosis peptidase (KY) deficiency.

Hedberg-Oldfors C, Darin N, Olsson Engman M, Orfanos Z, Thomsen C, van der Ven PF, Oldfors A. Hedberg-Oldfors C, et al. Among authors: darin n. Eur J Hum Genet. 2016 Dec;24(12):1771-1777. doi: 10.1038/ejhg.2016.98. Epub 2016 Aug 3. Eur J Hum Genet. 2016. PMID: 27485408 Free PMC article.

3

Muscle pathology in Vici syndrome-A case study with a novel mutation in EPG5 and a summary of the literature.

Hedberg-Oldfors C, Darin N, Oldfors A. Hedberg-Oldfors C, et al. Among authors: darin n. Neuromuscul Disord. 2017 Aug;27(8):771-776. doi: 10.1016/j.nmd.2017.05.005. Epub 2017 May 8. Neuromuscul Disord. 2017. PMID: 28624465 Review.

4

Long-term follow-up and characteristic pathological findings in severe nemaline myopathy due to LMOD3 mutations.

Michael E, Hedberg-Oldfors C, Wilmar P, Visuttijai K, Oldfors A, Darin N. Michael E, et al. Among authors: darin n. Neuromuscul Disord. 2019 Feb;29(2):108-113. doi: 10.1016/j.nmd.2018.12.009. Epub 2018 Dec 20. Neuromuscul Disord. 2019. PMID: 30642739

5

TANGO2 deficiency as a cause of neurodevelopmental delay with indirect effects on mitochondrial energy metabolism.

Jennions E, Hedberg-Oldfors C, Berglund AK, Kollberg G, Törnhage CJ, Eklund EA, Oldfors A, Verloo P, Vanlander AV, De Meirleir L, Seneca S, Sterky FH, Darin N. Jennions E, et al. Among authors: darin n. J Inherit Metab Dis. 2019 Sep;42(5):898-908. doi: 10.1002/jimd.12149. Epub 2019 Jul 24. J Inherit Metab Dis. 2019. PMID: 31276219

6

Functional analysis of a novel POLγA mutation associated with a severe perinatal mitochondrial encephalomyopathy.

Darin N, Siibak T, Peter B, Hedberg-Oldfors C, Kollberg G, Kalbin V, Moslemi AR, Macao B, Oldfors A, Falkenberg M. Darin N, et al. Neuromuscul Disord. 2021 Apr;31(4):348-358. doi: 10.1016/j.nmd.2021.01.004. Epub 2021 Jan 12. Neuromuscul Disord. 2021. PMID: 33579567 Free article.

7

Expression pattern of mitochondrial respiratory chain enzymes in skeletal muscle of patients with mitochondrial myopathy associated with the homoplasmic m.14674T>C variant.

Roos S, Hedberg-Oldfors C, Visuttijai K, Stein M, Kollberg G, Elíasdóttir Ó, Lindberg C, Darin N, Oldfors A. Roos S, et al. Among authors: darin n. Brain Pathol. 2022 Jul;32(4):e13038. doi: 10.1111/bpa.13038. Epub 2021 Nov 21. Brain Pathol. 2022. PMID: 34806237 Free PMC article.

8

Benign mitochondrial myopathy with exercise intolerance in a large multigeneration family due to a homoplasmic m.3250T>C mutation in MTTL1.

Darin N, Hedberg-Oldfors C, Kroksmark AK, Moslemi AR, Kollberg G, Oldfors A. Darin N, et al. Eur J Neurol. 2017 Apr;24(4):587-593. doi: 10.1111/ene.13249. Epub 2017 Feb 9. Eur J Neurol. 2017. PMID: 28181352

9

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: darin n. Brain. 2009 Aug;132(Pt 8):2170-9. doi: 10.1093/brain/awp152. Epub 2009 Jun 30. Brain. 2009. PMID: 19567699

10

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: darin n. 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.

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