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

Unravelling genetic etiology of cerebral palsy: findings from a Slovenian pediatric cohort

揭示脑瘫的遗传病因:来自斯洛文尼亚儿科队列的研究结果

Arkar Silan, Ula; Trebše, Ana; Kovač, Jernej; Rogac, Mihael; Troha Gergeli, Anja; Šket, Robert; Bregant, Tina; Neubauer, David; Peterlin, Borut; Osredkar, Damjan

DE NOVO VARIANTS IN THE POLY(RC)-BINDING PROTEIN GENE PCBP1 CAUSE A NEURODEVELOPMENTAL DISORDER

多聚(RC)结合蛋白基因PCBP1的从头突变会导致神经发育障碍

Deb, Wallid; Besnard, Thomas; Desprez, Florence; Cogné, Benjamin; Do Souto Ferreira, Laura; Vignard, Virginie; Marouillat, Sylviane; Januel, Louis; Gorokhova, Svetlana; Busa, Tiffany; Morel, Victor; Dauriat, Benjamin; Desportes, Vincent; Slavotinek, Anne M; An, Yu; Lee, Hane; Hary, Jessy; Kannu, Peter; Athey, Taryn B; van de Laar, Ingrid M B H; van Slegtenhorst, Marjon A; Dickson, Patricia; Muir, Alison M; Buchert, Rebecca; Haack, Tobias B; Imort, Dominic; Sousa, Sérgio B; Xavier, Belinda; Almeida, Pedro M; Rogac, Mihael; Peterlin, Borut; Kaspar, Sophie; Netzer, Christian; Zempel, Hans; Towne, Meghan C; Ladda, Roger L; Sell, Susan S; Gawlinski, Pawel; Song, Xiaofei; Wiszniewski, Wojciech; Calame, Daniel G; Posey, Jennifer E; Ebstein, Frederic; Lupski, James R; Isidor, Bertrand; Bézieau, Stéphane; Laumonnier, Frédéric; Küry, Sébastien

Optical genome mapping in an atypical Pelizaeus-Merzbacher prenatal challenge

非典型佩利措伊斯-梅尔茨巴赫综合征产前挑战中的光学基因组图谱绘制

Rogac, Mihael; Kovanda, Anja; Lovrečić, Luca; Peterlin, Borut

Clinical Experience of Neurological Mitochondrial Diseases in Children and Adults: A Single-Center Study

儿童和成人神经系统线粒体疾病的临床经验:一项单中心研究

Rogac, M; Neubauer, D; Leonardis, L; Pecaric, N; Meznaric, M; Maver, A; Sperl, W; Garavaglia, B M; Lamantea, E; Peterlin, B

Epigenetic Signature of Chronic Maternal Stress Load During Pregnancy Might be a Potential Biomarker for Spontaneous Preterm Birth

妊娠期慢性母体应激负荷的表观遗传特征可能是自发性早产的潜在生物标志物

M, Rogac; B, Peterlin

Regulation of lipid accumulation by AMP-activated kinase [corrected] in high fat diet-induced kidney injury.

AMP激活激酶对高脂饮食诱导的肾损伤中脂质积累的调节[已更正]

Declèves Anne-Emilie, Zolkipli Zarazuela, Satriano Joseph, Wang Lin, Nakayama Tomohiro, Rogac Mihael, Le Thuy P, Nortier Joëlle L, Farquhar Marilyn G, Naviaux Robert K, Sharma Kumar

Transcriptomic profiling of TK2 deficient human skeletal muscle suggests a role for the p53 signalling pathway and identifies growth and differentiation factor-15 as a potential novel biomarker for mitochondrial myopathies

TK2 缺乏的人类骨骼肌的转录组分析表明 p53 信号通路发挥了作用,并确定生长和分化因子 15 是线粒体肌病的潜在新型生物标志物

Susana Graciela Kalko, Sonia Paco, Cristina Jou, Maria Angels Rodríguez, Marija Meznaric, Mihael Rogac, Maja Jekovec-Vrhovsek, Monica Sciacco, Maurizio Moggio, Gigliola Fagiolari, Boel De Paepe, Linda De Meirleir, Isidre Ferrer, Manel Roig-Quilis, Francina Munell, Julio Montoya, Ester López-Gallardo

Antipurinergic therapy corrects the autism-like features in the poly(IC) mouse model

抗嘌呤疗法可纠正 poly(IC) 小鼠模型中的自闭症样特征

Robert K Naviaux, Zarazuela Zolkipli, Lin Wang, Tomohiro Nakayama, Jane C Naviaux, Thuy P Le, Michael A Schuchbauer, Mihael Rogac, Qingbo Tang, Laura L Dugan, Susan B Powell

Amyloid precursor protein 96-110 and beta-amyloid 1-42 elicit developmental anomalies in sea urchin embryos and larvae that are alleviated by neurotransmitter analogs for acetylcholine, serotonin and cannabinoids

淀粉样前体蛋白 96-110 和 β-淀粉样蛋白 1-42 会引起海胆胚胎和幼虫的发育异常,而乙酰胆碱、血清素和内源性大麻素等神经递质类似物可以缓解这些异常。

Buznikov, Gennady A; Nikitina, Lyudmila A; Seidler, Frederic J; Slotkin, Theodore A; Bezuglov, Vladimir V; Milosević, Ivan; Lazarević, Lidija; Rogac, Ljubica; Ruzdijić, Sabera; Rakić, Ljubisa M