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A new early-onset neuromuscular disorder associated with kyphoscoliosis peptidase (KY) deficiency.
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.
Drug-induced hyperthermia with rhabdomyolysis in CLN3 disease.
Savvidou A, Jennions E, Wikström S, Olsson-Engman M, Sofou K, Darin N.
Savvidou A, et al. Among authors: olsson engman m.
Eur J Paediatr Neurol. 2022 Jul;39:74-78. doi: 10.1016/j.ejpn.2022.06.007. Epub 2022 Jun 11.
Eur J Paediatr Neurol. 2022.
PMID: 35716526
Free article.
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Hypocretin deficiency develops during onset of human narcolepsy with cataplexy.
Savvidou A, Knudsen S, Olsson-Engman M, Gammeltoft S, Jennum P, Palm L.
Savvidou A, et al. Among authors: olsson engman m.
Sleep. 2013 Jan 1;36(1):147-8. doi: 10.5665/sleep.2320.
Sleep. 2013.
PMID: 23288981
Free PMC article.
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PREPL deficiency: delineation of the phenotype and development of a functional blood assay.
Régal L, Mårtensson E, Maystadt I, Voermans N, Lederer D, Burlina A, Juan Fita MJ, Hoogeboom AJM, Olsson Engman M, Hollemans T, Schouten M, Meulemans S, Jonson T, François I, Gil Ortega D, Kamsteeg EJ, Creemers JWM.
Régal L, et al. Among authors: olsson engman m.
Genet Med. 2018 Jan;20(1):109-118. doi: 10.1038/gim.2017.74. Epub 2017 Jul 20.
Genet Med. 2018.
PMID: 28726805
Free article.
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Noonan and cardio-facio-cutaneous syndromes: two clinically and genetically overlapping disorders.
Nyström AM, Ekvall S, Berglund E, Björkqvist M, Braathen G, Duchen K, Enell H, Holmberg E, Holmlund U, Olsson-Engman M, Annerén G, Bondeson ML.
Nyström AM, et al. Among authors: olsson engman m.
J Med Genet. 2008 Aug;45(8):500-6. doi: 10.1136/jmg.2008.057653. Epub 2008 May 2.
J Med Genet. 2008.
PMID: 18456719
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