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Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia.
Nguyen TTM, Murakami Y, Sheridan E, Ehresmann S, Rousseau J, St-Denis A, Chai G, Ajeawung NF, Fairbrother L, Reimschisel T, Bateman A, Berry-Kravis E, Xia F, Tardif J, Parry DA, Logan CV, Diggle C, Bennett CP, Hattingh L, Rosenfeld JA, Perry MS, Parker MJ, Le Deist F, Zaki MS, Ignatius E, Isohanni P, Lönnqvist T, Carroll CJ, Johnson CA, Gleeson JG, Kinoshita T, Campeau PM. Nguyen TTM, et al. Among authors: lonnqvist t. Am J Hum Genet. 2017 Nov 2;101(5):856-865. doi: 10.1016/j.ajhg.2017.09.020. Am J Hum Genet. 2017. PMID: 29100095 Free PMC article.
Early disc degeneration in radiotherapy-treated childhood brain tumor survivors.
Grahn P, Remes T, Kivisaari R, Suo-Palosaari MH, Arikoski PM, Koskenkorva PKT, Lähteenmäki PM, Lönnqvist TRI, Ojaniemi MK, Sirkiä KH, Sutela AK, Toiviainen-Salo SM, Rantala HMJ, Harila AH, Niinimäki J, Karppinen J, Ahonen M. Grahn P, et al. Among authors: lonnqvist tri. BMC Musculoskelet Disord. 2023 May 31;24(1):441. doi: 10.1186/s12891-023-06509-4. BMC Musculoskelet Disord. 2023. PMID: 37259117 Free PMC article.
Deficiency of the E3 ubiquitin ligase TRIM2 in early-onset axonal neuropathy.
Ylikallio E, Pöyhönen R, Zimon M, De Vriendt E, Hilander T, Paetau A, Jordanova A, Lönnqvist T, Tyynismaa H. Ylikallio E, et al. Among authors: lonnqvist t. Hum Mol Genet. 2013 Aug 1;22(15):2975-83. doi: 10.1093/hmg/ddt149. Epub 2013 Apr 4. Hum Mol Genet. 2013. PMID: 23562820
Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy.
Haack TB, Ignatius E, Calvo-Garrido J, Iuso A, Isohanni P, Maffezzini C, Lönnqvist T, Suomalainen A, Gorza M, Kremer LS, Graf E, Hartig M, Berutti R, Paucar M, Svenningsson P, Stranneheim H, Brandberg G, Wedell A, Kurian MA, Hayflick SA, Venco P, Tiranti V, Strom TM, Dichgans M, Horvath R, Holinski-Feder E, Freyer C, Meitinger T, Prokisch H, Senderek J, Wredenberg A, Carroll CJ, Klopstock T. Haack TB, et al. Among authors: lonnqvist t. Am J Hum Genet. 2016 Sep 1;99(3):735-743. doi: 10.1016/j.ajhg.2016.06.026. Epub 2016 Aug 18. Am J Hum Genet. 2016. PMID: 27545679 Free PMC article.
ATPase-deficient mitochondrial inner membrane protein ATAD3A disturbs mitochondrial dynamics in dominant hereditary spastic paraplegia.
Cooper HM, Yang Y, Ylikallio E, Khairullin R, Woldegebriel R, Lin KL, Euro L, Palin E, Wolf A, Trokovic R, Isohanni P, Kaakkola S, Auranen M, Lönnqvist T, Wanrooij S, Tyynismaa H. Cooper HM, et al. Among authors: lonnqvist t. Hum Mol Genet. 2017 Apr 15;26(8):1432-1443. doi: 10.1093/hmg/ddx042. Hum Mol Genet. 2017. PMID: 28158749 Free PMC article.
100 results