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[Mutation del 1,02kb in the CLN3 gene and extrapyramidal syndrome].
Nuzhnyi EP, Yakimovskii AF, Timofeeva AA, Usenko TS, Nikolaev MA, Emelyanov AK, Amosov VI, Bubnova EV, Boukina AM, Zakharova EY, Pchelina SN. Nuzhnyi EP, et al. Among authors: zakharova ey. Zh Nevrol Psikhiatr Im S S Korsakova. 2016;116(8):50-53. doi: 10.17116/jnevro20161168150-53. Zh Nevrol Psikhiatr Im S S Korsakova. 2016. PMID: 27635612 Russian.
Oligomeric α-synuclein and glucocerebrosidase activity levels in GBA-associated Parkinson's disease.
Pchelina S, Emelyanov A, Baydakova G, Andoskin P, Senkevich K, Nikolaev M, Miliukhina I, Yakimovskii A, Timofeeva A, Fedotova E, Abramycheva N, Usenko T, Kulabukhova D, Lavrinova A, Kopytova A, Garaeva L, Nuzhnyi E, Illarioshkin S, Zakharova E. Pchelina S, et al. Neurosci Lett. 2017 Jan 1;636:70-76. doi: 10.1016/j.neulet.2016.10.039. Epub 2016 Oct 22. Neurosci Lett. 2017. PMID: 27780739
Case report: a rare case of Hunter syndrome (type II mucopolysaccharidosis) in a girl.
Semyachkina AN, Voskoboeva EY, Zakharova EY, Nikolaeva EA, Kanivets IV, Kolotii AD, Baydakova GV, Kharabadze MN, Kuramagomedova RG, Melnikova NV. Semyachkina AN, et al. Among authors: zakharova ey. BMC Med Genet. 2019 May 2;20(1):66. doi: 10.1186/s12881-019-0807-x. BMC Med Genet. 2019. PMID: 31046699 Free PMC article.
80 results