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

The Global Landscape of Genetic Variation in Parkinson's disease: Multi-Ancestry Insights into Established Disease Genes and their Translational Relevance

帕金森病遗传变异的全球图谱:多种族背景对已确立的疾病基因及其转化意义的启示

Lange, Lara M; Fang, Zih-Hua; Makarious, Mary B; Kuznetsov, Nicole; Brolin, Kajsa Atterling; Ballard, Shannon; Bardien, Soraya; Doquenia, Maria Leila; Heutink, Peter; Houlden, Henry; Iwaki, Hirotaka; Jasaityte, Simona; Jones, Lietsel; Junker, Johanna; Kaiyrzhanov, Rauan; Koretsky, Mathew J; Kumar, Kishore R; Leonard, Hampton L; Levine, Kristin S; Lim, Shen-Yang; Mencacci, Niccoló E; Mohamed, Wael M Y; Nalls, Mike A; Noyce, Alastair J; Ojha, Rajeev; Okubadejo, Njideka U; Rehman, Shoaib Ur; Screven, Laurel; Shashkin, Chingiz; Sopromadze, Sophia; Stafford, Eleanor J; Tan, Ai Huey; Tan, Manuela; Tavadyan, Zaruhi; Trinh, Joanne; Tserensodnom, Bayasgalan; Valente, Enza Maria; Vitale, Dan; Zharkinbekova, Nazira; Lohmann, Katja; Bandres-Ciga, Sara; Blauwendraat, Cornelis; Singleton, Andrew; Morris, Huw R; Klein, Christine

Validation of the Kazakh version of the movement disorder Society-Unified Parkinson's disease rating scale

哈萨克语版运动障碍协会统一帕金森病评定量表的验证

Abdraimova, Saltanat; Myrzayev, Zhanybek; Karimova, Altynay; Talgatkyzy, Altynay; Khaibullin, Talgat; Kaishibayeva, Gulnaz; Elubaeva, Sandugash; Esembekova, Karlygash; Choi, Dongrak; Martinez-Martin, Pablo; Goetz, Christopher G; Stebbins, Glenn T; Luo, Sheng; Shashkin, Chingiz; Zharkinbekova, Nazira; Kaiyrzhanov, Rauan

BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients

BRAT1相关疾病:97例患者的表型谱和表型-基因型相关性

Engel, Camille; Valence, Stéphanie; Delplancq, Geoffroy; Maroofian, Reza; Accogli, Andrea; Agolini, Emanuele; Alkuraya, Fowzan S; Baglioni, Valentina; Bagnasco, Irene; Becmeur-Lefebvre, Mathilde; Bertini, Enrico; Borggraefe, Ingo; Brischoux-Boucher, Elise; Bruel, Ange-Line; Brusco, Alfredo; Bubshait, Dalal K; Cabrol, Christelle; Cilio, Maria Roberta; Cornet, Marie-Coralie; Coubes, Christine; Danhaive, Olivier; Delague, Valérie; Denommé-Pichon, Anne-Sophie; Di Giacomo, Marilena Carmela; Doco-Fenzy, Martine; Engels, Hartmut; Cremer, Kirsten; Gérard, Marion; Gleeson, Joseph G; Heron, Delphine; Goffeney, Joanna; Guimier, Anne; Harms, Frederike L; Houlden, Henry; Iacomino, Michele; Kaiyrzhanov, Rauan; Kamien, Benjamin; Karimiani, Ehsan Ghayoor; Kraus, Dror; Kuentz, Paul; Kutsche, Kerstin; Lederer, Damien; Massingham, Lauren; Mignot, Cyril; Morris-Rosendahl, Déborah; Nagarajan, Lakshmi; Odent, Sylvie; Ormières, Clothilde; Partlow, Jennifer Neil; Pasquier, Laurent; Penney, Lynette; Philippe, Christophe; Piccolo, Gianluca; Poulton, Cathryn; Putoux, Audrey; Rio, Marlène; Rougeot, Christelle; Salpietro, Vincenzo; Scheffer, Ingrid; Schneider, Amy; Srivastava, Siddharth; Straussberg, Rachel; Striano, Pasquale; Valente, Enza Maria; Venot, Perrine; Villard, Laurent; Vitobello, Antonio; Wagner, Johanna; Wagner, Matias; Zaki, Maha S; Zara, Federizo; Lesca, Gaetan; Yassaee, Vahid Reza; Miryounesi, Mohammad; Hashemi-Gorji, Farzad; Beiraghi, Mehran; Ashrafzadeh, Farah; Galehdari, Hamid; Walsh, Christopher; Novelli, Antonio; Tacke, Moritz; Sadykova, Dinara; Maidyrov, Yerdan; Koneev, Kairgali; Shashkin, Chingiz; Capra, Valeria; Zamani, Mina; Van Maldergem, Lionel; Burglen, Lydie; Piard, Juliette

Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency

肌苷三磷酸焦磷酸酶(ITPase)缺乏症引起的发育性和癫痫性脑病的临床放射学特征、分子谱及预后因素鉴定

Scala, Marcello; Wortmann, Saskia B; Kaya, Namik; Stellingwerff, Menno D; Pistorio, Angela; Glamuzina, Emma; van Karnebeek, Clara D; Skrypnyk, Cristina; Iwanicka-Pronicka, Katarzyna; Piekutowska-Abramczuk, Dorota; Ciara, Elżbieta; Tort, Frederic; Sheidley, Beth; Poduri, Annapurna; Jayakar, Parul; Jayakar, Anuj; Upadia, Jariya; Walano, Nicolette; Haack, Tobias B; Prokisch, Holger; Aldhalaan, Hesham; Karimiani, Ehsan G; Yildiz, Yilmaz; Ceylan, Ahmet C; Santiago-Sim, Teresa; Dameron, Amy; Yang, Hui; Toosi, Mehran B; Ashrafzadeh, Farah; Akhondian, Javad; Imannezhad, Shima; Mirzadeh, Hanieh S; Maqbool, Shazia; Farid, Aisha; Al-Muhaizea, Mohamed A; Alshwameen, Meznah O; Aldowsari, Lama; Alsagob, Maysoon; Alyousef, Ashwaq; AlMass, Rawan; AlHargan, Aljouhra; Alwadei, Ali H; AlRasheed, Maha M; Colak, Dilek; Alqudairy, Hanan; Khan, Sameena; Lines, Matthew A; García Cazorla, M Ángeles; Ribes, Antonia; Morava, Eva; Bibi, Farah; Haider, Shahzad; Ferla, Matteo P; Taylor, Jenny C; Alsaif, Hessa S; Firdous, Abdulwahab; Hashem, Mais; Shashkin, Chingiz; Koneev, Kairgali; Kaiyrzhanov, Rauan; Efthymiou, Stephanie; Genomics, Queen Square; Schmitt-Mechelke, Thomas; Ziegler, Andreas; Issa, Mahmoud Y; Elbendary, Hasnaa M; Striano, Pasquale; Alkuraya, Fowzan S; Zaki, Maha S; Gleeson, Joseph G; Barakat, Tahsin Stefan; Bierau, Jorgen; van der Knaap, Marjo S; Maroofian, Reza; Houlden, Henry

Graphene Oxide Chemistry Management via the Use of KMnO(4)/K(2)Cr(2)O(7) Oxidizing Agents

利用KMnO(4)/K(2)Cr(2)O(7)氧化剂控制氧化石墨烯的化学性质

Shiyanova, Kseniya A; Gudkov, Maksim V; Rabchinskii, Maxim K; Sokura, Liliia A; Stolyarova, Dina Y; Baidakova, Marina V; Shashkin, Dmitriy P; Trofimuk, Andrei D; Smirnov, Dmitry A; Komarov, Ivan A; Timofeeva, Victoria A; Melnikov, Valery P

LRRK2 Mutations and Asian Disease-Associated Variants in the First Parkinson's Disease Cohort from Kazakhstan.

哈萨克斯坦首例帕金森病队列中LRRK2突变和亚洲疾病相关变异

Kaiyrzhanov Rauan, Aitkulova Akbota, Shashkin Chingiz, Zharkinbekova Nazira, Rizig Mie, Zholdybayeva Elena, Jarmukhanov Zharkyn, Akhmetzhanov Vadim, Kaishibayeva Gulnaz, Khaibullin Talgat, Karimova Altynay, Akshulakov Serik, Bralov Askhat, Kissamedenov Nurlan, Seidinova Zhanar, Taskinbayeva Anjela, Muratbaikyzy Aliya, Houlden Henry

Lipopolysaccharide is a direct agonist for platelet RNA splicing

脂多糖是血小板RNA剪接的直接激动剂

Shashkin, Pavel N; Brown, G Thomas; Ghosh, Arundhati; Marathe, Gopal K; McIntyre, Thomas M

Insulin and glucose play a role in foam cell formation and function

胰岛素和葡萄糖在泡沫细胞的形成和功能中发挥作用

Shashkin, Pavel N; Jain, Nitin; Miller, Yury I; Rissing, Benjamin A; Huo, Yuqing; Keller, Susanna R; Vandenhoff, George E; Nadler, Jerry L; McIntyre, Thomas M

Fasting decreases the content of D-chiroinositol in human skeletal muscle

禁食会降低人体骨骼肌中D-手性肌醇的含量。

Shashkin, Pavel N; Huang, Laura C; Larner, Joseph; Vandenhoff, George E; Katz, Abram