Johanna Uusimaa
Overview
Explore the profile of Johanna Uusimaa including associated specialties, affiliations and a list of published articles.
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84
Citations
1469
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Recent Articles
1.
Oikarainen J, Hinttala R, Nayebzadeh N, Kangas S, Mankinen K, Rahikkala E, et al.
Mitochondrion
. 2025 Feb;
81:102007.
PMID: 39894241
Leigh syndrome is the most common phenotype of mitochondrial disorders in children. This study demonstrates clinical, neuroradiological, and molecular genetic findings in siblings with Leigh syndrome and isolated complex I...
2.
Keikhosrokiani P, Isomursu M, Uusimaa J, Kortelainen J
Digit Health
. 2024 Oct;
10:20552076241287356.
PMID: 39381810
Objective: Scalp electroencephalograms (EEGs) are critical for neurological evaluations, particularly in epilepsy, yet they demand specialized expertise that is often lacking in many regions. Artificial intelligence (AI) offers potential solutions...
3.
Rahikkala E, Komulainen-Ebrahim J, Tolonen J, Vorimo S, Suo-Palosaari M, Vieira P, et al.
Mol Genet Genomic Med
. 2024 Sep;
12(9):e70014.
PMID: 39305100
Background: X-linked recessive type 3 Charcot-Marie-Tooth (CMTX3) is a rare subtype of childhood-onset CMT. To date, all reported CMTX3 patients share a common founder 78 kb insertion from chromosome 8...
4.
Mansikkala T, Kangas S, Miinalainen I, Angervaniva P, Darin N, Blomqvist M, et al.
RSC Adv
. 2024 Sep;
14(39):28797-28806.
PMID: 39257666
Salla disease (SD) is a lysosomal storage disease where free sialic acid (SA) accumulates in lysosomes due to the impaired function of a membrane protein, sialin. Synchrotron radiation-based scanning transmission...
5.
Hikmat O, Naess K, Engvall M, Klingenberg C, Rasmussen M, Brodtkorb E, et al.
J Neurol
. 2024 Jun;
271(8):5156-5164.
PMID: 38822839
We aimed to provide a detailed phenotypic description of status epilepticus (SE) in a large cohort of patients with POLG disease and identify prognostic biomarkers to improve the management of...
6.
Komulainen-Ebrahim J, Kangas S, Lopez-Martin E, Feyma T, Scaglia F, Martinez-Delgado B, et al.
Mov Disord Clin Pract
. 2024 May;
11(6):708-715.
PMID: 38698576
Background: Genetic syndromes of hyperkinetic movement disorders associated with epileptic encephalopathy and intellectual disability are becoming increasingly recognized. Recently, a de novo heterozygous NACC1 (nucleus accumbens-associated 1) missense variant was...
7.
Jarvela V, Hamze M, Komulainen-Ebrahim J, Rahikkala E, Piispala J, Kallio M, et al.
Front Mol Neurosci
. 2024 Apr;
17:1372662.
PMID: 38660387
The potassium-chloride co-transporter 2, KCC2, is a neuron-specific ion transporter that plays a multifunctional role in neuronal development. In mature neurons, KCC2 maintains a low enough intracellular chloride concentration essential...
8.
Kang Y, Hepojoki J, Sartori Maldonado R, Mito T, Terzioglu M, Manninen T, et al.
Nature
. 2024 Apr;
628(8009):844-853.
PMID: 38570685
Mitochondria are critical modulators of antiviral tolerance through the release of mitochondrial RNA and DNA (mtDNA and mtRNA) fragments into the cytoplasm after infection, activating virus sensors and type-I interferon...
9.
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...
10.
Tolonen J, Parolin Schnekenberg R, McGowan S, Sims D, McEntagart M, Elmslie F, et al.
Mov Disord
. 2023 Nov;
39(1):141-151.
PMID: 37964426
Background: The ITPR1 gene encodes the inositol 1,4,5-trisphosphate (IP ) receptor type 1 (IP R1), a critical player in cerebellar intracellular calcium signaling. Pathogenic missense variants in ITPR1 cause congenital...