Jukka S Moilanen
Overview
Explore the profile of Jukka S Moilanen including associated specialties, affiliations and a list of published articles.
Author names and details appear as published. Due to indexing inconsistencies, multiple individuals may share a name, and a single author may have variations. MedLuna displays this data as publicly available, without modification or verification
Snapshot
Snapshot
Articles
46
Citations
1632
Followers
0
Related Specialties
Related Specialties
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
1.
Majamaa K, Karppa M, Moilanen J
BMJ Neurol Open
. 2024 Sep;
6(2):e000825.
PMID: 39324021
Abstract: Background: The m.3243A>G variant in mitochondrial DNA (mtDNA) is the most common cause of the MELAS (Mitochondrial encephalopathy, lactic acidosis and stroke-like episodes) syndrome usually commencing in childhood or...
2.
Oikarainen J, Knuutinen O, Kangas S, Rahikkala E, Pokka T, Moilanen J, et al.
Dev Med Child Neurol
. 2024 Jul;
67(2):186-194.
PMID: 39080972
Aim: To describe the specific brain magnetic resonance imaging (MRI) patterns of the paediatric genetic disorders associated with white matter abnormalities in Northern Finland. Method: In this retrospective population-based longitudinal...
3.
Jaula H, Mattila L, Lappi-Blanco E, Salonen J, Vahanikkila H, Ahvenjarvi L, et al.
Respir Res
. 2024 Jun;
25(1):239.
PMID: 38867203
Background: In familial pulmonary fibrosis (FPF) at least two biological relatives are affected. Patients with FPF have diverse clinical features. Research Question: We aimed to characterize demographic and clinical features,...
4.
Urpa L, Kurki M, Rahikkala E, Hamalainen E, Salomaa V, Suvisaari J, et al.
Eur J Hum Genet
. 2024 Mar;
32(5):576-583.
PMID: 38467730
Intellectual disability (ID) is a common disorder, yet there is a wide spectrum of impairment from mild to profoundly affected individuals. Mild ID is seen as the low extreme of...
5.
Kraatari-Tiri M, Haanpaa M, Willberg T, Pohjola P, Keski-Filppula R, Kuismin O, et al.
J Clin Med
. 2022 Apr;
11(7).
PMID: 35407445
Sensorineural hearing loss (SNHL) is one of the most common sensory deficits worldwide, and genetic factors contribute to at least 50−60% of the congenital hearing loss cases. The transmembrane channel-like...
6.
Knuutinen O, Oikarainen J, Suo-Palosaari M, Kangas S, Rahikkala E, Pokka T, et al.
Dev Med Child Neurol
. 2021 May;
63(9):1066-1074.
PMID: 33948933
Aim: To examine the epidemiological, clinical, and genetic characteristics of paediatric patients with genetic white matter disorders (GWMDs) in Northern Finland. Method: A longitudinal population-based cohort study was conducted in...
7.
Kiiskila J, Moilanen J, Kytovuori L, Niemi A, Majamaa K
BMC Genomics
. 2019 Oct;
20(1):784.
PMID: 31664900
Background: We have previously reported on paucity of mitochondrial DNA (mtDNA) haplogroups J and K among Finnish endurance athletes. Here we aimed to further explore differences in mtDNA variants between...
8.
Kurki M, Saarentaus E, Pietilainen O, Gormley P, Lal D, Kerminen S, et al.
Nat Commun
. 2019 Jan;
10(1):410.
PMID: 30679432
The contribution of de novo variants in severe intellectual disability (ID) has been extensively studied whereas the genetics of mild ID has been less characterized. To elucidate the genetics of...
9.
Ganna A, Satterstrom F, Zekavat S, Das I, Kurki M, Churchhouse C, et al.
Am J Hum Genet
. 2018 Jun;
102(6):1204-1211.
PMID: 29861106
There is a limited understanding about the impact of rare protein-truncating variants across multiple phenotypes. We explore the impact of this class of variants on 13 quantitative traits and 10...
10.
Knuutinen O, Kousi M, Suo-Palosaari M, Moilanen J, Tuominen H, Vainionpaa L, et al.
Neuropediatrics
. 2018 May;
49(4):256-261.
PMID: 29801191
Alexander disease (AxD) is a genetic leukodystrophy caused by mutations leading to astrocyte dysfunction. Neonatal AxD is a rare phenotype with onset in the first month of life. The proband,...