Risom L - Search Results

1

A mitochondrial tRNA(Met) mutation causing developmental delay, exercise intolerance and limb girdle phenotype with onset in early childhood.

Born AP, Duno M, Rafiq J, Risom L, Wibrand F, Østergaard E, Vissing J. Born AP, et al. Among authors: risom l. Eur J Paediatr Neurol. 2015 Jan;19(1):69-71. doi: 10.1016/j.ejpn.2014.10.006. Epub 2014 Nov 1. Eur J Paediatr Neurol. 2015. PMID: 25468263

2

Recurrent myoglobinuria and deranged acylcarnitines due to a mutation in the mtDNA MT-CO2 gene.

Vissing CR, Duno M, Olesen JH, Rafiq J, Risom L, Christensen E, Wibrand F, Vissing J. Vissing CR, et al. Among authors: risom l. Neurology. 2013 May 14;80(20):1908-10. doi: 10.1212/WNL.0b013e3182929fb2. Epub 2013 Apr 24. Neurology. 2013. PMID: 23616164

3

Identification of six novel PTH1R mutations in families with a history of primary failure of tooth eruption.

Risom L, Christoffersen L, Daugaard-Jensen J, Hove HD, Andersen HS, Andresen BS, Kreiborg S, Duno M. Risom L, et al. PLoS One. 2013 Sep 18;8(9):e74601. doi: 10.1371/journal.pone.0074601. eCollection 2013. PLoS One. 2013. PMID: 24058597 Free PMC article.

4

A novel de novo mutation of the mitochondrial tRNAlys gene mt.8340G>a associated with pure myopathy.

Jeppesen TD, Duno M, Risom L, Wibrand F, Rafiq J, Krag T, Jakobsen J, Andersen H, Vissing J. Jeppesen TD, et al. Among authors: risom l. Neuromuscul Disord. 2014 Feb;24(2):162-6. doi: 10.1016/j.nmd.2013.08.004. Epub 2013 Aug 20. Neuromuscul Disord. 2014. PMID: 24161205

5

Differences in genetic defects and morphology of eye- and limb muscles in mitochondrial myopathy.

Levison L, Dunø M, Risom L, Toft PB, Vissing J. Levison L, et al. Among authors: risom l. Acta Ophthalmol. 2015 Jun;93(4):e306-8. doi: 10.1111/aos.12558. Epub 2014 Oct 13. Acta Ophthalmol. 2015. PMID: 25312354 Free article. No abstract available.

6

Sulfatide levels correlate with severity of neuropathy in metachromatic leukodystrophy.

Dali CÍ, Barton NW, Farah MH, Moldovan M, Månsson JE, Nair N, Dunø M, Risom L, Cao H, Pan L, Sellos-Moura M, Corse AM, Krarup C. Dali CÍ, et al. Among authors: risom l. Ann Clin Transl Neurol. 2015 May;2(5):518-33. doi: 10.1002/acn3.193. Epub 2015 Mar 27. Ann Clin Transl Neurol. 2015. PMID: 26000324 Free PMC article.

7

Hypomyelinating Leukodystrophy due to HSPD1 Mutations: A New Patient.

Kusk MS, Damgaard B, Risom L, Hansen B, Ostergaard E. Kusk MS, et al. Among authors: risom l. Neuropediatrics. 2016 Oct;47(5):332-5. doi: 10.1055/s-0036-1584564. Epub 2016 Jul 12. Neuropediatrics. 2016. PMID: 27405012

8

Residual OCTN2 transporter activity, carnitine levels and symptoms correlate in patients with primary carnitine deficiency.

Rasmussen J, Lund AM, Risom L, Wibrand F, Gislason H, Nielsen OW, Køber L, Duno M. Rasmussen J, et al. Among authors: risom l. Mol Genet Metab Rep. 2014 May 22;1:241-248. doi: 10.1016/j.ymgmr.2014.04.008. eCollection 2014. Mol Genet Metab Rep. 2014. PMID: 27896095 Free PMC article.

9

[Exome sequencing for syndrome diagnostics].

Østergaard E, Risom L, Ek J, Grønborg S, Dunø M, Skovby F. Østergaard E, et al. Among authors: risom l. Ugeskr Laeger. 2017 Apr 24;179(17):V10160762. Ugeskr Laeger. 2017. PMID: 28473029 Free article. Review. Danish.

10

A recurrent de novo CUX2 missense variant associated with intellectual disability, seizures, and autism spectrum disorder.

Barington M, Risom L, Ek J, Uldall P, Ostergaard E. Barington M, et al. Among authors: risom l. Eur J Hum Genet. 2018 Sep;26(9):1388-1391. doi: 10.1038/s41431-018-0184-5. Epub 2018 May 24. Eur J Hum Genet. 2018. PMID: 29795476 Free PMC article.

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