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94 results

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A novel neurodegenerative spectrum disorder in patients with MLKL deficiency.
Faergeman SL, Evans H, Attfield KE, Desel C, Kuttikkatte SB, Sommerlund M, Jensen LT, Frokiaer J, Friese MA, Matthews PM, Luchtenborg C, Brügger B, Oturai AB, Dendrou CA, Fugger L. Faergeman SL, et al. Among authors: sommerlund m. Cell Death Dis. 2020 May 1;11(5):303. doi: 10.1038/s41419-020-2494-0. Cell Death Dis. 2020. PMID: 32358523 Free PMC article.
A novel single nucleotide splice site mutation in FHL1 confirms an Emery-Dreifuss plus phenotype with pulmonary artery hypoplasia and facial dysmorphology.
Pen AE, Nyegaard M, Fang M, Jiang H, Christensen R, Mølgaard H, Andersen H, Ulhøi BP, Østergaard JR, Væth S, Sommerlund M, de Brouwer AP, Zhang X, Jensen UB. Pen AE, et al. Among authors: sommerlund m. Eur J Med Genet. 2015 Apr;58(4):222-9. doi: 10.1016/j.ejmg.2015.02.003. Epub 2015 Feb 25. Eur J Med Genet. 2015. PMID: 25724586
Corrigendum to "Development of hypomelanotic macules is associated with constitutive activated mTORC1 in tuberous sclerosis complex" [Mol. Genet. Metab. 120(4) (Apr 2017) 384-391].
Møller LB, Schönewolf-Greulich B, Rosengren T, Larsen LJ, Ostergaard JR, Sommerlund M, Ostenfeldt C, Stausbøl-Grøn B, Linnet KM, Gregersen PA, Jensen UB. Møller LB, et al. Among authors: sommerlund m. Mol Genet Metab. 2018 Dec;125(4):361. doi: 10.1016/j.ymgme.2017.11.007. Epub 2018 Jan 8. Mol Genet Metab. 2018. PMID: 29325814 No abstract available.
[Diagnosis, monitoring and treatment of tuberous sclerosis complex].
Reinhard M, Sunde L, Madsen MG, Andersen BN, Bendstrup E, Sommerlund M, Gjørup H, Larsen DA, Møller HU, Nielsen DG, Mortensen UM, Handrup MM, Aagaard NKM, Cortnum S, Khatir DS, Bayat M, Andersen G, Stausbøl-Grøn B, Christensen J. Reinhard M, et al. Among authors: sommerlund m. Ugeskr Laeger. 2019 Nov 4;181(45):V05190293. Ugeskr Laeger. 2019. PMID: 31791451 Free article. Review. Danish.
A founder synonymous COL7A1 mutation in three Danish families with dominant dystrophic epidermolysis bullosa pruriginosa identifies exonic regulatory sequences required for exon 87 splicing.
Covaciu C, Grosso F, Pisaneschi E, Zambruno G, Gregersen PA, Sommerlund M, Hertz JM, Castiglia D. Covaciu C, et al. Among authors: sommerlund m. Br J Dermatol. 2011 Sep;165(3):678-82. doi: 10.1111/j.1365-2133.2011.10414.x. Epub 2011 Jul 28. Br J Dermatol. 2011. PMID: 21574979
New and recurrent AAGAB mutations in punctate palmoplantar keratoderma.
Pohler E, Huber M, Boonen SE, Zamiri M, Gregersen PA, Sommerlund M, Ramsing M, Hohl D, McLean WH, Smith FJ. Pohler E, et al. Among authors: sommerlund m. Br J Dermatol. 2014 Aug;171(2):433-6. doi: 10.1111/bjd.12927. Epub 2014 Aug 7. Br J Dermatol. 2014. PMID: 24588319 Free PMC article. No abstract available.
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