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

Dose-dependent CHCHD10 dysregulation dictates motor neuron disease severity and alters creatine metabolism.

剂量依赖性的 CHCHD10 失调决定运动神经元疾病的严重程度并改变肌酸代谢

Harjuhaahto Sandra, Jokela Manu, Rajendran Jayasimman, Rokka Minea, Hu Bowen, Kvist Jouni, Zhang Fuping, Zárybnický Tomáš, Haimilahti Kimmo, Euro Liliya, Pirinen Eija, Huber Nadine, Herukka Sanna-Kaisa, Haapasalo Annakaisa, Kuuluvainen Emilia, Gopalakrishnan Swetha, Katajisto Pekka, Hietakangas Ville, Burg Thibaut, Van Den Bosch Ludo, Huang Xiaoping, Narendra Derek P, Kuure Satu, Ylikallio Emil, Tyynismaa Henna

Advances and challenges in modeling inherited peripheral neuropathies using iPSCs

利用诱导多能干细胞构建遗传性周围神经病模型的研究进展与挑战

Van Lent, Jonas; Prior, Robert; Pérez Siles, Gonzalo; Cutrupi, Anthony N; Kennerson, Marina L; Vangansewinkel, Tim; Wolfs, Esther; Mukherjee-Clavin, Bipasha; Nevin, Zachary; Judge, Luke; Conklin, Bruce; Tyynismaa, Henna; Clark, Alex J; Bennett, David L; Van Den Bosch, Ludo; Saporta, Mario; Timmerman, Vincent

Preferential binding of ADP-bound mitochondrial HSP70 to the nucleotide exchange factor GRPEL1 over GRPEL2

ADP结合的线粒体HSP70优先与核苷酸交换因子GRPEL1而非GRPEL2结合。

Manjunath, Pooja; Stojkovič, Gorazd; Euro, Liliya; Konovalova, Svetlana; Wanrooij, Sjoerd; Koski, Kristian; Tyynismaa, Henna

AARS Online: A collaborative database on the structure, function, and evolution of the aminoacyl-tRNA synthetases

AARS Online:一个关于氨酰tRNA合成酶的结构、功能和进化的协作数据库

Douglas, Jordan; Cui, Haissi; Perona, John J; Vargas-Rodriguez, Oscar; Tyynismaa, Henna; Carreño, Claudia Alvarez; Ling, Jiqiang; Ribas de Pouplana, Lluís; Yang, Xiang-Lei; Ibba, Michael; Becker, Hubert; Fischer, Frédéric; Sissler, Marie; Carter, Charles W Jr; Wills, Peter R

Metabolism: getting things right!

新陈代谢:一切正常!

Auranen, Mari; Toppila, Jussi; Suriyanarayanan, Saranya; Lone, Museer A; Paetau, Anders; Tyynismaa, Henna; Hornemann, Thorsten; Ylikallio, Emil; Teale, William; Klimmeck, Daniel

Small mitochondrial protein NERCLIN regulates cardiolipin homeostasis and mitochondrial ultrastructure

线粒体小蛋白NERCLIN调节心磷脂稳态和线粒体超微结构

Konovalova, Svetlana; Torregrosa-Muñumer, Rubén; Manjunath, Pooja; Liu, Xiaonan; Baral, Sundar; Fatima, Kaneez; Holopainen, Minna; Kvist, Jouni; Rajendran, Jayasimman; Yang, Yang; Varjosalo, Markku; Käkelä, Reijo; Somerharju, Pentti; Tyynismaa, Henna

Rare PMP22 variants in mild to severe neuropathy uncorrelated to plasma GDF15 or neurofilament light

罕见的PMP22变异体与轻度至重度神经病变相关,且与血浆GDF15或神经丝轻链无关。

Palu, Edouard; Järvilehto, Julius; Pennonen, Jana; Huber, Nadine; Herukka, Sanna-Kaisa; Haapasalo, Annakaisa; Isohanni, Pirjo; Tyynismaa, Henna; Auranen, Mari; Ylikallio, Emil

The Finnish genetic heritage in 2022 - from diagnosis to translational research

2022年芬兰遗传遗产——从诊断到转化研究

Uusimaa, Johanna; Kettunen, Johannes; Varilo, Teppo; Järvelä, Irma; Kallijärvi, Jukka; Kääriäinen, Helena; Laine, Minna; Lapatto, Risto; Myllynen, Päivi; Niinikoski, Harri; Rahikkala, Elisa; Suomalainen, Anu; Tikkanen, Ritva; Tyynismaa, Henna; Vieira, Päivi; Zarybnicky, Tomas; Sipilä, Petra; Kuure, Satu; Hinttala, Reetta

Attitudes towards genetic testing and information: does parenthood shape the views?

对基因检测和信息的态度:为人父母会影响他们的观点吗?

Saastamoinen, Antti; Hyttinen, Virva; Kortelainen, Mika; Aaltio, Juho; Auranen, Mari; Ylikallio, Emil; Lönnqvist, Tuula; Sainio, Markus; Suomalainen, Anu; Tyynismaa, Henna; Isohanni, Pirjo

Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy

隐性PYROXD1基因突变会导致成人发病的肢带型肌营养不良症。

Sainio, Markus T; Välipakka, Salla; Rinaldi, Bruno; Lapatto, Helena; Paetau, Anders; Ojanen, Simo; Brilhante, Virginia; Jokela, Manu; Huovinen, Sanna; Auranen, Mari; Palmio, Johanna; Friant, Sylvie; Ylikallio, Emil; Udd, Bjarne; Tyynismaa, Henna