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Biallelic mutations in human DCC cause developmental split-brain syndrome.
Jamuar SS, Schmitz-Abe K, D'Gama AM, Drottar M, Chan WM, Peeva M, Servattalab S, Lam AN, Delgado MR, Clegg NJ, Zayed ZA, Dogar MA, Alorainy IA, Jamea AA, Abu-Amero K, Griebel M, Ward W, Lein ES, Markianos K, Barkovich AJ, Robson CD, Grant PE, Bosley TM, Engle EC, Walsh CA, Yu TW. Jamuar SS, et al. Among authors: peeva m. Nat Genet. 2017 Apr;49(4):606-612. doi: 10.1038/ng.3804. Epub 2017 Feb 27. Nat Genet. 2017. PMID: 28250456 Free PMC article.
An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation.
Cederquist GY, Luchniak A, Tischfield MA, Peeva M, Song Y, Menezes MP, Chan WM, Andrews C, Chew S, Jamieson RV, Gomes L, Flaherty M, Grant PE, Gupta ML Jr, Engle EC. Cederquist GY, et al. Among authors: peeva m. Hum Mol Genet. 2012 Dec 15;21(26):5484-99. doi: 10.1093/hmg/dds393. Epub 2012 Sep 21. Hum Mol Genet. 2012. PMID: 23001566 Free PMC article.
Neurotensin(8-13) analogs as dual NTS1 and NTS2 receptor ligands with enhanced effects on a mouse model of Parkinson's disease.
Kühl T, Georgieva MG, Hübner H, Lazarova M, Vogel M, Haas B, Peeva MI, Balacheva AA, Bogdanov IP, Milella L, Ponticelli M, Garev T, Faraone I, Detcheva R, Minchev B, Petkova-Kirova P, Tancheva L, Kalfin R, Atanasov AG, Antonov L, Pajpanova TI, Kirilov K, Gastreich M, Gmeiner P, Imhof D, Tzvetkov NT. Kühl T, et al. Among authors: peeva mi. Eur J Med Chem. 2023 Jun 5;254:115386. doi: 10.1016/j.ejmech.2023.115386. Epub 2023 Apr 17. Eur J Med Chem. 2023. PMID: 37094450
15 results