Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Johanna Uusima"'
Publikováno v:
Digital Health, Vol 10 (2024)
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 to
Externí odkaz:
https://doaj.org/article/37c9751ef9f84ff49ce0027f378c901d
Autor:
Elisa Rahikkala, Jonna Komulainen‐Ebrahim, Jussi‐Pekka Tolonen, Sandra Vorimo, Maria Suo‐Palosaari, Päivi Vieira, Johanna Piispala, Johanna Uusimaa, Katri Pylkäs, Tuomo Mantere
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 9, Pp n/a-n/a (2024)
ABSTRACT 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 into the Xq27.1 palindrome regio
Externí odkaz:
https://doaj.org/article/2660da9047ef49dc9313746f0302fc09
Autor:
Viivi Järvelä, Mira Hamze, Jonna Komulainen-Ebrahim, Elisa Rahikkala, Johanna Piispala, Mika Kallio, Salla M. Kangas, Tereza Nickl, Marko Huttula, Reetta Hinttala, Johanna Uusimaa, Igor Medina, Esa-Ville Immonen
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 17 (2024)
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 for inhibitor
Externí odkaz:
https://doaj.org/article/c924fe7976664232b84b934d595bc41c
Autor:
Antti Tallgren, Leo Kager, Gina O’Grady, Hannu Tuominen, Jarmo Körkkö, Outi Kuismin, Martha Feucht, Callum Wilson, Jana Behunova, Eleina England, Mitja I. Kurki, Aarno Palotie, Mikko Hallman, Riitta Kaarteenaho, Franco Laccone, Kaan Boztug, Reetta Hinttala, Johanna Uusimaa
Publikováno v:
Frontiers in Neuroscience, Vol 17 (2023)
PurposeFINCA disease (Fibrosis, Neurodegeneration and Cerebral Angiomatosis, OMIM 618278) is an infantile-onset neurodevelopmental and multiorgan disease. Since our initial report in 2018, additional patients have been described. FINCA is the first h
Externí odkaz:
https://doaj.org/article/a15fd5005cc54d2da58d74123763ff5c
Autor:
Salla M. Kangas, Jaakko Teppo, Maija J. Lahtinen, Anu Suoranta, Bishwa Ghimire, Pirkko Mattila, Johanna Uusimaa, Markku Varjosalo, Jani Katisko, Reetta Hinttala
Publikováno v:
Translational Neurodegeneration, Vol 11, Iss 1, Pp 1-16 (2022)
Abstract Background Transcriptomic and proteomic profiling of human brain tissue is hindered by the availability of fresh samples from living patients. Postmortem samples usually represent the advanced disease stage of the patient. Furthermore, the p
Externí odkaz:
https://doaj.org/article/01bcf4d50e8f47fa87519123d6cba3ff
Autor:
Maria Parasyri, Per Brandström, Johanna Uusimaa, Elsebet Ostergaard, Omar Hikmat, Pirjo Isohanni, Karin Naess, I.F.M. de Coo, Andrés Nascimento Osorio, Matti Nuutinen, Christopher Lindberg, Laurence A. Bindoff, Már Tulinius, Niklas Darin, Kalliopi Sofou
Publikováno v:
Kidney Diseases, Vol 8, Iss 2, Pp 137-148 (2022)
Aims: This study aimed to investigate associations between renal and extrarenal manifestations of mitochondrial diseases and their natural history as well as predictors of renal disease severity and overall disease outcome. The secondary aim was to g
Externí odkaz:
https://doaj.org/article/3ee2e812910448329c59438092ef3013
Autor:
Johanna Uusimaa, Johannes Kettunen, Teppo Varilo, Irma Järvelä, Jukka Kallijärvi, Helena Kääriäinen, Minna Laine, Risto Lapatto, Päivi Myllynen, Harri Niinikoski, Elisa Rahikkala, Anu Suomalainen, Ritva Tikkanen, Henna Tyynismaa, Päivi Vieira, Tomas Zarybnicky, Petra Sipilä, Satu Kuure, Reetta Hinttala
Publikováno v:
Disease Models & Mechanisms, Vol 15, Iss 10 (2022)
Externí odkaz:
https://doaj.org/article/2a119f42fcfd41c2a9c6dcffb987c478
Autor:
Anniina E. Hiltunen, Salla M. Kangas, Steffen Ohlmeier, Ilkka Pietilä, Jori Hiltunen, Heikki Tanila, Colin McKerlie, Subashika Govindan, Hannu Tuominen, Riitta Kaarteenaho, Mikko Hallman, Johanna Uusimaa, Reetta Hinttala
Publikováno v:
Molecular Medicine, Vol 26, Iss 1, Pp 1-16 (2020)
Abstract Background FINCA disease is a pediatric cerebropulmonary disease caused by variants in the NHL repeat-containing 2 (NHLRC2) gene. Neurological symptoms are among the first manifestations of FINCA disease, but the consequences of NHLRC2 defic
Externí odkaz:
https://doaj.org/article/49cbc6b319124640b45364e90fbbfc8c
Autor:
Omar Hikmat, Karin Naess, Martin Engvall, Claus Klingenberg, Magnhild Rasmussen, Chantal M. E. Tallaksen, Christian Samsonsen, Eylert Brodtkorb, Elsebet Ostergaard, Rene de Coo, Leticia Pias‐Peleteiro, Pirjo Isohanni, Johanna Uusimaa, Niklas Darin, Shamima Rahman, Laurence A. Bindoff
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 7, Iss 10, Pp 2019-2025 (2020)
Abstract Objective To study the impact of gender, puberty, and pregnancy on the expression of POLG disease, one of the most common mitochondrial diseases known. Methods Clinical, laboratory, and genetic data were collected retrospectively from 155 pa
Externí odkaz:
https://doaj.org/article/e138e62d2745491f9053735c2db70e67
Autor:
Tomáš Zárybnický, Anne Heikkinen, Salla M. Kangas, Marika Karikoski, Guillermo Antonio Martínez-Nieto, Miia H. Salo, Johanna Uusimaa, Reetta Vuolteenaho, Reetta Hinttala, Petra Sipilä, Satu Kuure
Publikováno v:
Cells, Vol 10, Iss 11, p 3158 (2021)
The modification of genes in animal models has evidently and comprehensively improved our knowledge on proteins and signaling pathways in human physiology and pathology. In this review, we discuss almost 40 monogenic rare diseases that are enriched i
Externí odkaz:
https://doaj.org/article/51145108edac43eaa2eb4993dd172c41