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

Exploring the role of apolipoprotein ε4 in progressive myoclonic epilepsy type 1

探讨载脂蛋白ε4在进行性肌阵挛性癫痫1型中的作用

Gunnar, Janina; Liu, Yawu; Eronen, Henri; Joensuu, Tarja; Äikiä, Marja; Hyppönen, Jelena; Silvennoinen, Katri; Mervaala, Esa; Hakumäki, Juhana; Lehesjoki, Anna-Elina; Kälviäinen, Reetta

Novel, complex configurations of the MARCHF6 repeat expansion associated with progressive myoclonic epilepsy and familial adult myoclonic epilepsy

与进行性肌阵挛性癫痫和家族性成人肌阵挛性癫痫相关的MARCHF6重复扩增的新型复杂构型

Bennett, Mark F; Corbett, Mark A; Kroes, Thessa; Canafoglia, Laura; Oliver, Karen L; Cameron, Jillian M; Sikta, Neblina; Munro, Jacob; Fearnley, Liam G; Ibañez, Kristina; Tucci, Arianna; Sisodiya, Sanjay M; Hildebrand, Michael S; Scheffer, Ingrid E; Courage, Carolina; Lehesjoki, Anna-Elina; Giuliano, Loretta; Didato, Giuseppe; Franceschetti, Silvana; Gecz, Jozef; Berkovic, Samuel F; Bahlo, Melanie

Heterogeneous genetic patterns in bilateral perisylvian polymicrogyria: insights from a Finnish family cohort

双侧侧裂周围多小脑回畸形的异质性遗传模式:来自芬兰家族队列的启示

Järvelä, Irma; Paetau, Ritva; Rajendran, Yasmin; Acharya, Anushree; Bharadwaj, Thashi; Leal, Suzanne M; Lehesjoki, Anna-Elina; Palomäki, Maarit; Schrauwen, Isabelle

Haplotype information of large neuromuscular disease genes provided by linked-read sequencing has a potential to increase diagnostic yield

利用连接读长测序技术提供的大型神经肌肉疾病基因的单倍型信息,有望提高诊断率。

Lehtonen, Johanna; Sulonen, Anna-Maija; Almusa, Henrikki; Lehtokari, Vilma-Lotta; Johari, Mridul; Palva, Aino; Hakonen, Anna H; Wartiovaara, Kirmo; Lehesjoki, Anna-Elina; Udd, Bjarne; Wallgren-Pettersson, Carina; Pelin, Katarina; Savarese, Marco; Saarela, Janna

Epilepsies with onset during the first year of life: A prospective study on syndromes, etiologies, and outcomes

婴儿期发病的癫痫:一项关于综合征、病因和预后的前瞻性研究

Jonsson, Henna; Gaily, Eija; Stjerna, Susanna; Joensuu, Tarja; Johari, Mridul; Lehesjoki, Anna-Elina; Linnankivi, Tarja

Progressive mitochondrial dysfunction in cerebellar synaptosomes of cystatin B-deficient mice

胱抑素 B 缺乏小鼠小脑突触体发生进行性线粒体功能障碍

Katarin Gorski, Christopher B Jackson, Tuula A Nyman, Veronika Rezov, Brendan J Battersby, Anna-Elina Lehesjoki

In depth behavioral phenotyping unravels complex motor disturbances in Cstb(-/-) mouse, a model for progressive myoclonus epilepsy type 1

深入的行为表型分析揭示了Cstb(-/-)小鼠(一种进行性肌阵挛性癫痫1型模型)复杂的运动障碍

Pollari, Eveliina; Tegelberg, Saara; Björklund, Harry; Kälviäinen, Reetta; Lehesjoki, Anna-Elina; Haapalinna, Antti

Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy

ADAM22双等位基因致病变异会导致进行性脑病和婴儿期发病的难治性癫痫。

van der Knoop, Marieke M; Maroofian, Reza; Fukata, Yuko; van Ierland, Yvette; Karimiani, Ehsan G; Lehesjoki, Anna Elina; Muona, Mikko; Paetau, Anders; Miyazaki, Yuri; Hirano, Yoko; Selim, Laila; de França, Marina; Fock, Rodrigo Ambrosio; Beetz, Christian; Ruivenkamp, Claudia A L; Eaton, Alison J; Morneau-Jacob, Francois D; Sagi-Dain, Lena; Shemer-Meiri, Lilach; Peleg, Amir; Haddad-Halloun, Jumana; Kamphuis, Daan J; Peeters-Scholte, Cacha M P C D; Kurul, Semra Hiz; Horvath, Rita; Lochmüller, Hanns; Murphy, David; Waldmüller, Stephan; Spranger, Stephanie; Overberg, David; Muir, Alison M; Rad, Aboulfazl; Vona, Barbara; Abdulwahad, Firdous; Maddirevula, Sateesh; Povolotskaya, Inna S; Voinova, Victoria Y; Gowda, Vykuntaraju K; Srinivasan, Varunvenkat M; Alkuraya, Fowzan S; Mefford, Heather C; Alfadhel, Majid; Haack, Tobias B; Striano, Pasquale; Severino, Mariasavina; Fukata, Masaki; Hilhorst-Hofstee, Yvonne; Houlden, Henry

Cystatin B deficiency results in sustained histone H3 tail cleavage in postnatal mouse brain mediated by increased chromatin-associated cathepsin L activity

胱抑素 B 缺乏导致出生后小鼠脑内组蛋白 H3 尾部持续裂解,这是由染色质相关组织蛋白酶 L 活性增加介导的

Eduard Daura, Saara Tegelberg, Paula Hakala, Anna-Elina Lehesjoki, Tarja Joensuu

Progressive Myoclonus Epilepsy Caused by a Homozygous Splicing Variant of SLC7A6OS

由 SLC7A6OS 纯合剪接变异引起的进行性肌阵挛性癫痫

Laure Mazzola, Karen L Oliver, Audrey Labalme, Betül Baykan, Mikko Muona, Tarja H Joensuu, Carolina Courage, Nicolas Chatron, Giuseppe Borsani, Eudeline Alix, Francis Ramond, Renaud Touraine, Melanie Bahlo, Nerses Bebek, Samuel F Berkovic, Anna-Elina Lehesjoki, Gaetan Lesca