日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Two Years of Expanded Newborn Screening in Russia: High-Throughput Detection of Inherited Metabolic Disorders by Tandem Mass Spectrometry with Next-Generation Sequencing Confirmation

俄罗斯新生儿筛查扩大化两年:利用串联质谱高通量检测遗传代谢疾病并进行新一代测序确认

Zakharova, Ekaterina Y; Baydakova, Galina V; Baranova, Polina V; Aleksandrova, Darya Y; Shchagina, Olga A; Itkis, Yulia S; Milovanova, Natalya V; Nagornova, Tatyana S; Ivanova, Olga N; Nazarenko, Yana D; Voronin, Sergey V; Chukhrova, Alena L; Kadnikova, Varvara A; Lotnik, Ekaterina E; Ryadninskaya, Nina V; Polyakov, Aleksander V; Savostyanov, Kirill V; Bilalov, Fanil S; Koroteev, Alexander L; Trofimov, Dmitry Y; Bairova, Tatyana A; Seitova, Gulnara N; Mordanov, Sergei V; Matulevich, Svetlana A; Nikolaeva, Elena B; Kutsev, Sergey I

Functional Analysis of Complex Structural and Splice-Altering Variants in the ARSB Gene Towards the Personalized Antisense-Based Therapy for Mucopolysaccharidosis Type VI Patients

对ARSB基因中复杂结构和剪接改变变异体的功能分析,旨在为粘多糖贮积症VI型患者提供个性化的反义疗法

Bychkov, Igor; Filatova, Alexandra; Baydakova, Galina; Sikora, Nataliya; Garifullina, Emiliya; Bykova, Anna; Tabakov, Vyacheslav; Skretnev, Alexandr; Skoblov, Mikhail; Zakharova, Ekaterina

Association of the rs823144 variant of the RAB29 gene with the activity of lysosomal hydrolases in blood cells and risk of Parkinson's disease

RAB29基因rs823144变异与血细胞溶酶体水解酶活性及帕金森病风险的关联

Basharova, K S; Bezrukova, A I; Senkevich, K A; Baydakova, G V; Rybakov, A V; Miliukhina, I V; Timofeeva, A A; Zakharova, E Yu; Pchelina, S N; Usenko, T S

New Acylcarnitine Ratio as a Reliable Indicator of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency

新的酰基肉碱比率作为长链3-羟酰辅酶A脱氢酶缺乏症的可靠指标

Baydakova, Galina V; Tsygankova, Polina G; Pechatnikova, Natalia L; Bazhanova, Olga A; Nazarenko, Yana D; Zakharova, Ekaterina Y

Altered Sphingolipid Hydrolase Activities and Alpha-Synuclein Level in Late-Onset Schizophrenia

晚发性精神分裂症患者鞘脂水解酶活性和α-突触核蛋白水平的改变

Usenko, Tatiana; Bezrukova, Anastasia; Basharova, Katerina; Baydakova, Galina; Shagimardanova, Elena; Blatt, Nataliya; Rizvanov, Albert; Limankin, Oleg; Novitskiy, Maxim; Shnayder, Natalia; Izyumchenko, Artem; Nikolaev, Mikhail; Zabotina, Anna; Lavrinova, Anna; Kulabukhova, Darya; Nasyrova, Regina; Palchikova, Ekaterina; Zalutskaya, Natalia; Miliukhina, Irina; Barbitoff, Yury; Glotov, Oleg; Glotov, Andrey; Taraskina, Anastasia; Neznanov, Nikolai; Zakharova, Ekaterina; Pchelina, Sofya

Potential Binding Sites of Pharmacological Chaperone NCGC00241607 on Mutant β-Glucocerebrosidase and Its Efficacy on Patient-Derived Cell Cultures in Gaucher and Parkinson's Disease

药理学伴侣 NCGC00241607 在突变型 β-葡糖脑苷脂酶上的潜在结合位点及其对戈谢病和帕金森病患者来源细胞培养物的疗效

Alena E Kopytova ,George N Rychkov ,Alexander A Cheblokov ,Elena V Grigor'eva ,Mikhail A Nikolaev ,Elena S Yarkova ,Diana A Sorogina ,Farid M Ibatullin ,Galina V Baydakova ,Artem D Izyumchenko ,Daria A Bogdanova ,Vitali M Boitsov ,Akim V Rybakov ,Irina V Miliukhina ,Vadim A Bezrukikh ,Galina N Salogub ,Ekaterina Y Zakharova ,Sofya N Pchelina ,Anton K Emelyanov

Biochemical Characteristics of iPSC-Derived Dopaminergic Neurons from N370S GBA Variant Carriers with and without Parkinson's Disease

患有和不患有帕金森病的 N370S GBA 变异携带者的 iPSC 衍生多巴胺能神经元的生化特征

Elena V Grigor'eva, Alena E Kopytova, Elena S Yarkova, Sophia V Pavlova, Diana A Sorogina, Anastasia A Malakhova, Tuyana B Malankhanova, Galina V Baydakova, Ekaterina Y Zakharova, Sergey P Medvedev, Sofia N Pchelina, Suren M Zakian

Effects of Traumatic Brain Injury on the Gut Microbiota Composition and Serum Amino Acid Profile in Rats

创伤性脑损伤对大鼠肠道菌群组成和血清氨基酸谱的影响

Taraskina, Anastasiia; Ignatyeva, Olga; Lisovaya, Darya; Ivanov, Mikhail; Ivanova, Lyudmila; Golovicheva, Viktoriya; Baydakova, Galina; Silachev, Denis; Popkov, Vasiliy; Ivanets, Tatyana; Kashtanova, Daria; Yudin, Vladimir; Makarov, Valentin; Abramov, Ivan; Lukashina, Mariya; Rakova, Vera; Zagainova, Anzhelika; Zorov, Dmitry; Plotnikov, Egor; Sukhikh, Gennadiy; Yudin, Sergey

Processed pseudogene insertion in GLB1 causes Morquio B disease by altering intronic splicing regulatory landscape

GLB1 中加工后的假基因插入通过改变内含子剪接调控结构导致 Morquio B 病。

Bychkov, Igor; Kuznetsova, Antonina; Baydakova, Galina; Gorobets, Leonid; Kenis, Vladimir; Dimitrieva, Alena; Filatova, Alexandra; Tabakov, Vyacheslav; Skoblov, Mikhail; Zakharova, Ekaterina

Publisher Correction: Processed pseudogene insertion in GLB1 causes Morquio B disease by altering intronic splicing regulatory landscape

出版商更正:GLB1 中加工假基因插入通过改变内含子剪接调控结构导致 Morquio B 病

Bychkov, Igor; Kuznetsova, Antonina; Baydakova, Galina; Gorobets, Leonid; Kenis, Vladimir; Dimitrieva, Alena; Filatova, Alexandra; Tabakov, Vyacheslav; Skoblov, Mikhail; Zakharova, Ekaterina