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Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies.
Accogli A, Zaki MS, Al-Owain M, Otaif MY, Jackson A, Argilli E, Chandler KE, De Goede CGEL, Cora T, Alvi JR, Eslahi A, Asl Mohajeri MS, Ashtiani S, Au PYB, Scocchia A, Alakurtti K, Pagnamenta AT, Toosi MB, Karimiani EG, Mojarrad M, Arab F, Duymuş F, Scantlebury MH, Yeşil G, Rosenfeld JA, Türkyılmaz A, Sağer SG, Sultan T, Ashrafzadeh F, Zahra T, Rahman F, Maqbool S, Abdel-Hamid MS, Issa MY, Efthymiou S, Bauer P, Zifarelli G, Salpietro V, Al-Hassnan Z, Banka S, Sherr EH, Gleeson JG, Striano P, Houlden H, Severino M, Maroofian R. Accogli A, et al. Among authors: alakurtti k. Brain Commun. 2023 Aug 17;5(5):fcad222. doi: 10.1093/braincomms/fcad222. eCollection 2023. Brain Commun. 2023. PMID: 37794925 Free PMC article.
RAB23 regulates musculoskeletal development and patterning.
Hasan MR, Koskenranta A, Alakurtti K, Takatalo M, Rice DP. Hasan MR, et al. Among authors: alakurtti k. Front Cell Dev Biol. 2023 Feb 23;11:1049131. doi: 10.3389/fcell.2023.1049131. eCollection 2023. Front Cell Dev Biol. 2023. PMID: 36910145 Free PMC article.
Does TMS on V3 block conscious visual perception?
Salminen-Vaparanta N, Koivisto M, Vorobyev V, Alakurtti K, Revonsuo A. Salminen-Vaparanta N, et al. Among authors: alakurtti k. Neuropsychologia. 2019 May;128:223-231. doi: 10.1016/j.neuropsychologia.2017.11.013. Epub 2017 Nov 11. Neuropsychologia. 2019. PMID: 29137989 Free article.
Dopamine and Opioid Neurotransmission in Behavioral Addictions: A Comparative PET Study in Pathological Gambling and Binge Eating.
Majuri J, Joutsa J, Johansson J, Voon V, Alakurtti K, Parkkola R, Lahti T, Alho H, Hirvonen J, Arponen E, Forsback S, Kaasinen V. Majuri J, et al. Among authors: alakurtti k. Neuropsychopharmacology. 2017 Apr;42(5):1169-1177. doi: 10.1038/npp.2016.265. Epub 2016 Nov 24. Neuropsychopharmacology. 2017. PMID: 27882998 Free PMC article.
Biallelic Mutations in PDE10A Lead to Loss of Striatal PDE10A and a Hyperkinetic Movement Disorder with Onset in Infancy.
Diggle CP, Sukoff Rizzo SJ, Popiolek M, Hinttala R, Schülke JP, Kurian MA, Carr IM, Markham AF, Bonthron DT, Watson C, Sharif SM, Reinhart V, James LC, Vanase-Frawley MA, Charych E, Allen M, Harms J, Schmidt CJ, Ng J, Pysden K, Strick C, Vieira P, Mankinen K, Kokkonen H, Kallioinen M, Sormunen R, Rinne JO, Johansson J, Alakurtti K, Huilaja L, Hurskainen T, Tasanen K, Anttila E, Marques TR, Howes O, Politis M, Fahiminiya S, Nguyen KQ, Majewski J, Uusimaa J, Sheridan E, Brandon NJ. Diggle CP, et al. Among authors: alakurtti k. Am J Hum Genet. 2016 Apr 7;98(4):735-43. doi: 10.1016/j.ajhg.2016.03.015. Am J Hum Genet. 2016. PMID: 27058446 Free PMC article.
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