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

Phenotypic Heterogeneity in Genetic and Acquired Pediatric Cerebellar Disorders

遗传性和获得性儿童小脑疾病的表型异质性

Granath, Katariina; Huhtaniska, Sanna; Ellonen, Juulia; Pokka, Tytti; Kangas, Salla M; Moilanen, Jukka; Helander, Heli; Kallankari, Hanna; Komulainen-Ebrahim, Jonna; Vieira, Päivi; Rahikkala, Elisa; Guerrini, Renzo; Honkila, Minna; Ruuska, Terhi S; Hinttala, Reetta; Suo-Palosaari, Maria; Tolonen, Jussi-Pekka; Uusimaa, Johanna

Brain MRI findings in paediatric genetic disorders associated with white matter abnormalities

儿童遗传性疾病与白质异常相关的脑部MRI检查结果

Oikarainen, Jaakko H; Knuutinen, Oula A; Kangas, Salla M; Rahikkala, Elisa J; Pokka, Tytti M-L; Moilanen, Jukka S; Hinttala, Reetta M; Vieira, Päivi M; Uusimaa, Johanna M; Suo-Palosaari, Maria H

A Novel Homozygous KIF1C Variant in 2 Cases of Spastic Ataxia Type 2

两例痉挛性共济失调2型患者携带一种新的纯合KIF1C变异

Granath, Katariina; Kangas, Salla M; Huhtaniska, Sanna; Suo-Palosaari, Maria; Ronkainen, Veli-Pekka; Helander, Heli; Rahikkala, Elisa; Hinttala, Reetta; Uusimaa, Johanna; Tolonen, Jussi-Pekka

Altered behaviour and immune response in mice with NHLRC2 p.Asp148Tyr variant.

NHLRC2 p.Asp148Tyr 变异小鼠的行为和免疫反应发生改变

Hiltunen Anniina E, Kangas Salla M, Gondane Aishwarya, Koivisto Henna, Salokas Kari, Heikkinen Anne, Salo Miia H, Röning Tapio, Tallgren Antti, Glumoff Virpi, Denis Maria C, Karagianni Niki, Myllyharju Johanna, Varjosalo Markku, Tanila Heikki, Itkonen Harri M, Rämet Mika, Uusimaa Johanna, Hinttala Reetta

Requirement Analysis for Data-Driven Electroencephalography Seizure Monitoring Software to Enhance Quality and Decision Making in Digital Care Pathways for Epilepsy: A Feasibility Study from the Perspectives of Health Care Professionals

针对数据驱动型脑电图癫痫发作监测软件的需求分析,旨在提升癫痫数字化诊疗路径的质量和决策能力:一项从医疗专业人员角度出发的可行性研究

Keikhosrokiani, Pantea; Annunen, Johanna; Komulainen-Ebrahim, Jonna; Kortelainen, Jukka; Kallio, Mika; Vieira, Päivi; Isomursu, Minna; Uusimaa, Johanna

Ancestral allele of DNA polymerase gamma modifies antiviral tolerance

DNA聚合酶γ的祖先等位基因改变抗病毒耐受性

Yilin Kang, Jussi Hepojoki, Rocio Sartori Maldonado, Takayuki Mito, Mügen Terzioglu, Tuula Manninen, Ravi Kant, Sachin Singh, Alaa Othman, Rohit Verma, Johanna Uusimaa, Kirmo Wartiovaara, Lauri Kareinen, Nicola Zamboni, Tuula Anneli Nyman, Anders Paetau, Anja Kipar, Olli Vapalahti, Anu Suomalainen

Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design

对 ITPR1 错义变异的详细分析指导诊断和治疗方案设计

Tolonen, Jussi Pekka; Parolin Schnekenberg, Ricardo; McGowan, Simon; Sims, David; McEntagart, Meriel; Elmslie, Frances; Shears, Debbie; Stewart, Helen; Tofaris, George K; Dabir, Tabib; Morrison, Patrick J; Johnson, Diana; Hadjivassiliou, Marios; Ellard, Sian; Shaw-Smith, Charles; Znaczko, Anna; Dixit, Abhijit; Suri, Mohnish; Sarkar, Ajoy; Harrison, Rachel E; Jones, Gabriela; Houlden, Henry; Ceravolo, Giorgia; Jarvis, Joanna; Williams, Jonathan; Shanks, Morag E; Clouston, Penny; Rankin, Julia; Blumkin, Lubov; Lerman-Sagie, Tally; Ponger, Penina; Raskin, Salmo; Granath, Katariina; Uusimaa, Johanna; Conti, Hector; McCann, Emma; Joss, Shelagh; Blakes, Alexander J M; Metcalfe, Kay; Kingston, Helen; Bertoli, Marta; Kneen, Rachel; Lynch, Sally Ann; Martínez Albaladejo, Inmaculada; Moore, Austen Peter; Jones, Wendy D; Becker, Esther B E; Németh, Andrea H

Screening of photosensitizers-ATP binding cassette (ABC) transporter interactions in vitro

体外筛选光敏剂-ATP结合盒(ABC)转运蛋白相互作用

Vig, Shruti; Srivastava, Payal; Rahman, Idrisa; Jaranson, Renee; Dasgupta, Anika; Perttilä, Robert; Uusimaa, Petteri; Huang, Huang-Chiao

Evidence for the additivity of rare and common variant burden throughout the spectrum of intellectual disability

证据表明,罕见变异和常见变异的负担在整个智力障碍谱系中具有累加效应

Urpa, Lea; Kurki, Mitja I; Rahikkala, Elisa; Hämäläinen, Eija; Salomaa, Veikko; Suvisaari, Jaana; Keski-Filppula, Riikka; Rauhala, Merja; Korpi-Heikkilä, Satu; Komulainen-Ebrahim, Jonna; Helander, Heli; Vieira, Päivi; Uusimaa, Johanna; Moilanen, Jukka S; Körkkö, Jarmo; Singh, Tarjinder; Kuismin, Outi; Pietiläinen, Olli; Palotie, Aarno; Daly, Mark J

Status epilepticus in POLG disease: a large multinational study

POLG 病中的癫痫持续状态:一项大型多国研究

Hikmat, Omar; Naess, Karin; Engvall, Martin; Klingenberg, Claus; Rasmussen, Magnhild; Brodtkorb, Eylert; Ostergaard, Elsebet; de Coo, Irenaeus; Pias-Peleteiro, Leticia; Isohanni, Pirjo; Uusimaa, Johanna; Majamaa, Kari; Kärppä, Mikko; Ortigoza-Escobar, Juan Dario; Tangeraas, Trine; Berland, Siren; Harrison, Emma; Biggs, Heather; Horvath, Rita; Darin, Niklas; Rahman, Shamima; Bindoff, Laurence A