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AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.
Salpietro V, Dixon CL, Guo H, Bello OD, Vandrovcova J, Efthymiou S, Maroofian R, Heimer G, Burglen L, Valence S, Torti E, Hacke M, Rankin J, Tariq H, Colin E, Procaccio V, Striano P, Mankad K, Lieb A, Chen S, Pisani L, Bettencourt C, Männikkö R, Manole A, Brusco A, Grosso E, Ferrero GB, Armstrong-Moron J, Gueden S, Bar-Yosef O, Tzadok M, Monaghan KG, Santiago-Sim T, Person RE, Cho MT, Willaert R, Yoo Y, Chae JH, Quan Y, Wu H, Wang T, Bernier RA, Xia K, Blesson A, Jain M, Motazacker MM, Jaeger B, Schneider AL, Boysen K, Muir AM, Myers CT, Gavrilova RH, Gunderson L, Schultz-Rogers L, Klee EW, Dyment D, Osmond M, Parellada M, Llorente C, Gonzalez-Peñas J, Carracedo A, Van Haeringen A, Ruivenkamp C, Nava C, Heron D, Nardello R, Iacomino M, Minetti C, Skabar A, Fabretto A; SYNAPS Study Group; Raspall-Chaure M, Chez M, Tsai A, Fassi E, Shinawi M, Constantino JN, De Zorzi R, Fortuna S, Kok F, Keren B, Bonneau D, Choi M, Benzeev B, Zara F, Mefford HC, Scheffer IE, Clayton-Smith J, Macaya A, Rothman JE, Eichler EE, Kullmann DM, Houlden H. Salpietro V, et al. Among authors: mannikko r. Nat Commun. 2019 Jul 12;10(1):3094. doi: 10.1038/s41467-019-10910-w. Nat Commun. 2019. PMID: 31300657 Free PMC article.
De novo KCNA2 mutations cause hereditary spastic paraplegia.
Manole A, Männikkö R, Hanna MG; SYNAPS study group; Kullmann DM, Houlden H. Manole A, et al. Among authors: mannikko r. Ann Neurol. 2017 Feb;81(2):326-328. doi: 10.1002/ana.24866. Ann Neurol. 2017. PMID: 28032718 No abstract available.
Dysfunction of NaV1.4, a skeletal muscle voltage-gated sodium channel, in sudden infant death syndrome: a case-control study.
Männikkö R, Wong L, Tester DJ, Thor MG, Sud R, Kullmann DM, Sweeney MG, Leu C, Sisodiya SM, FitzPatrick DR, Evans MJ, Jeffrey IJM, Tfelt-Hansen J, Cohen MC, Fleming PJ, Jaye A, Simpson MA, Ackerman MJ, Hanna MG, Behr ER, Matthews E. Männikkö R, et al. Lancet. 2018 Apr 14;391(10129):1483-1492. doi: 10.1016/S0140-6736(18)30021-7. Epub 2018 Apr 5. Lancet. 2018. PMID: 29605429 Free PMC article.
Spider toxin inhibits gating pore currents underlying periodic paralysis.
Männikkö R, Shenkarev ZO, Thor MG, Berkut AA, Myshkin MY, Paramonov AS, Kulbatskii DS, Kuzmin DA, Sampedro Castañeda M, King L, Wilson ER, Lyukmanova EN, Kirpichnikov MP, Schorge S, Bosmans F, Hanna MG, Kullmann DM, Vassilevski AA. Männikkö R, et al. Proc Natl Acad Sci U S A. 2018 Apr 24;115(17):4495-4500. doi: 10.1073/pnas.1720185115. Epub 2018 Apr 10. Proc Natl Acad Sci U S A. 2018. PMID: 29636418 Free PMC article.
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