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Gene symbol: WFS1. Disease: Wolfram syndrome.
Tsygankova P, Zakharova EY, Stepina DP. Tsygankova P, et al. Among authors: zakharova ey. Hum Genet. 2008 Feb;123(1):113. Hum Genet. 2008. PMID: 18386376 No abstract available.
Previously Unclassified Mutation of mtDNA m.3472T>C: Evidence of Pathogenicity in Leber's Hereditary Optic Neuropathy.
Sheremet NL, Nevinitsyna TA, Zhorzholadze NV, Ronzina IA, Itkis YS, Krylova TD, Tsygankova PG, Malakhova VA, Zakharova EY, Tokarchuk AV, Panteleeva AA, Karger EM, Lyamzaev KG, Avetisov SE. Sheremet NL, et al. Among authors: zakharova ey. Biochemistry (Mosc). 2016 Jul;81(7):748-54. doi: 10.1134/S0006297916070117. Biochemistry (Mosc). 2016. PMID: 27449621 Free article.
[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. Among authors: zakharova e. 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
473 results