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

Obstetric history of women with m.3243A>G: an observational cohort study

m.3243A>G突变女性的产科史:一项观察性队列研究

Kuikka, Petra; Nikkinen, Hilkka; Majamaa, Kari; Martikainen, Mika Henrik

Cognitive impairment profile in patients with the m.3243A> G variant in mitochondrial DNA

线粒体DNA中m.3243A>G变异患者的认知障碍特征

Winqvist, Satu; Kärppä, Mikko; Moilanen, Jukka S; Majamaa, Kari

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

Relative contribution of comorbid diseases to health-related quality of life in patients with Parkinson's disease

合并症对帕金森病患者健康相关生活质量的相对影响

Keränen, Maija-Helena; Kytövuori, Laura; Huhtakangas, Juha; Kärppä, Mikko; Majamaa, Kari

Neurological manifestations in adult patients with the m.3243A>G variant in mitochondrial DNA

线粒体DNA m.3243A>G变异成人患者的神经系统表现

Majamaa, Kari; Kärppä, Mikko; Moilanen, Jukka S

Incidence and prevalence of mtDNA-related adult mitochondrial disease in Southwest Finland, 2009-2022: an observational, population-based study

2009-2022年芬兰西南部成人线粒体DNA相关疾病的发病率和患病率:一项基于人群的观察性研究

Martikainen, Mika H; Majamaa, Kari

A severe neurodegenerative disease with Lewy bodies and a mutation in the glucocerebrosidase gene

一种严重的神经退行性疾病,伴有路易体和葡糖脑苷脂酶基因突变。

Sipilä, Jussi O T; Kytövuori, Laura; Rauramaa, Tuomas; Rauhamaa, Hugo; Kaasinen, Valtteri; Majamaa, Kari

Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre study

儿童人群中单发大片段线粒体DNA缺失疾病的表型谱和临床病程:一项多中心研究

Björkman, Kristoffer; Vissing, John; Østergaard, Elsebet; Bindoff, Laurence A; de Coo, Irenaeus F M; Engvall, Martin; Hikmat, Omar; Isohanni, Pirjo; Kollberg, Gittan; Lindberg, Christopher; Majamaa, Kari; Naess, Karin; Uusimaa, Johanna; Tulinius, Mar; Darin, Niklas

Stable low prevalence of Huntington's disease in Finland

芬兰亨廷顿舞蹈症患病率稳定且较低

Sipilä, Jussi O T; Majamaa, Kari

Biallelic expansion in RFC1 as a rare cause of Parkinson's disease

RFC1基因双等位基因扩增是帕金森病的一种罕见病因

Laura Kytövuori,Jussi Sipilä,Hiroshi Doi,Anri Hurme-Niiranen,Ari Siitonen,Eriko Koshimizu,Satoko Miyatake,Naomichi Matsumoto,Fumiaki Tanaka,Kari Majamaa