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FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study
Author / Creator:Suomalainen, Anu, Prof ; Elo, Jenni M, MB ; Pietiläinen, Kirsi H, MD ; Hakonen, Anna H, MD ; Sevastianova, Ksenia, MD ; Korpela, Mari, MD ; Isohanni, Pirjo, MD ; Marjavaara, Sanna K, PhD ; Tyni, Tiina, MD ; Kiuru-Enari, Sari, MD ; Pihko, Helena, Prof ; Darin, Niklas, MD ; Õunap, Katrin, MD ; Kluijtmans, Leo AJ, MD ; Paetau, Anders, MD ; Buzkova, Jana, MSc ; Bindoff, Laurence A, Prof ; Annunen-Rasila, Johanna, MD ; Uusimaa, Johanna, MD ; Rissanen, Aila, Prof ; Yki-Järvinen, Hannele, Prof ; Hirano, Michio, MD ; Tulinius, Mar, Prof ; Smeitink, Jan, Prof ; Tyynismaa, Henna, PhD
Publisher:England: Elsevier Ltd
Journal title:Lancet neurology, 2011-09, Vol.10 (9), p.806-818
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Structural analysis of human NHLRC2, mutations of which are associated with FINCA disease
Author / Creator:Biterova, Ekaterina ; Ignatyev, Alexander ; Uusimaa, Johanna ; Hinttala, Reetta ; Ruddock, Lloyd W
Publisher:United States: Public Library of Science
Journal title:PloS one, 2018-08, Vol.13 (8), p.e0202391
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A sustainable artificial-intelligence-augmented digital care pathway for epilepsy: Automating seizure tracking based on electroencephalogram data using artificial intelligence
Author / Creator:Keikhosrokiani, Pantea ; Isomursu, Minna ; Uusimaa, Johanna ; Kortelainen, Jukka
Publisher:London, England: SAGE Publications
Journal title:Digital health, 2024-01, Vol.10, p.20552076241287356
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A multicenter study on Leigh syndrome: disease course and predictors of survival
Author / Creator:Sofou, Kalliopi ; De Coo, Irenaeus F M ; Isohanni, Pirjo ; Ostergaard, Elsebet ; Naess, Karin ; De Meirleir, Linda ; Tzoulis, Charalampos ; Uusimaa, Johanna ; De Angst, Isabell B ; Lönnqvist, Tuula ; Pihko, Helena ; Mankinen, Katariina ; Bindoff, Laurence A ; Tulinius, Már ; Darin, Niklas
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2014-04, Vol.9 (1), p.52-52
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The Finnish genetic heritage in 2022 – from diagnosis to translational research
Author / Creator:Uusimaa, Johanna ; Kettunen, Johannes ; Varilo, Teppo ; Järvelä, Irma ; Kallijärvi, Jukka ; Kääriäinen, Helena ; Laine, Minna ; Lapatto, Risto ; Myllynen, Päivi ; Niinikoski, Harri ; Rahikkala, Elisa ; Suomalainen, Anu ; Tikkanen, Ritva ; Tyynismaa, Henna ; Vieira, Päivi ; Zarybnicky, Tomas ; Sipilä, Petra ; Kuure, Satu ; Hinttala, Reetta
Publisher:Cambridge: The Company of Biologists Ltd
Journal title:Disease models & mechanisms, 2022-10, Vol.15 (10)
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Variant in NHLRC2 leads to increased hnRNP C2 in developing neurons and the hippocampus of a mouse model of FINCA disease
Author / Creator:Hiltunen, Anniina E ; Kangas, Salla M ; Ohlmeier, Steffen ; Pietilä, Ilkka ; Hiltunen, Jori ; Tanila, Heikki ; McKerlie, Colin ; Govindan, Subashika ; Tuominen, Hannu ; Kaarteenaho, Riitta ; Hallman, Mikko ; Uusimaa, Johanna ; Hinttala, Reetta
Publisher:England: BioMed Central
Journal title:Molecular medicine (Cambridge, Mass.), 2020-12, Vol.26 (1), p.123-123, Article 123
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A novel pathogenic SLC12A5 missense variant in epilepsy of infancy with migrating focal seizures causes impaired KCC2 chloride extrusion
Author / Creator:Järvelä, Viivi ; Hamze, Mira ; Komulainen-Ebrahim, Jonna ; Rahikkala, Elisa ; Piispala, Johanna ; Kallio, Mika ; Kangas, Salla M ; Nickl, Tereza ; Huttula, Marko ; Hinttala, Reetta ; Uusimaa, Johanna ; Medina, Igor ; Immonen, Esa-Ville
Publisher:Switzerland: Frontiers Research Foundation
Journal title:Frontiers in molecular neuroscience, 2024-04, Vol.17, p.1372662-1372662
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Novel patients with NHLRC2 variants expand the phenotypic spectrum of FINCA disease
Author / Creator:Tallgren, Antti ; Kager, Leo ; O'Grady, Gina ; Tuominen, Hannu ; Körkkö, Jarmo ; Kuismin, Outi ; Feucht, Martha ; Wilson, Callum ; Behunova, Jana ; England, Eleina ; Kurki, Mitja I ; Palotie, Aarno ; Hallman, Mikko ; Kaarteenaho, Riitta ; Laccone, Franco ; Boztug, Kaan ; Hinttala, Reetta ; Uusimaa, Johanna
Publisher:Switzerland: Frontiers Media S.A
Journal title:Frontiers in neuroscience, 2023-04, Vol.17, p.1123327
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Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome)
Author / Creator:Rahikkala, Elisa ; Myllykoski, Matti ; Hinttala, Reetta ; Vieira, Päivi ; Nayebzadeh, Naemeh ; Weiss, Simone ; Plomp, Astrid S. ; Bittner, Reginald E. ; Kurki, Mitja I. ; Kuismin, Outi ; Lewis, Andrea M. ; Väisänen, Marja-Leena ; Kokkonen, Hannaleena ; Westermann, Jonne ; Bernert, Günther ; Tuominen, Hannu ; Palotie, Aarno ; Aaltonen, Lauri ; Yang, Yaping ; Potocki, Lorraine ; Moilanen, Jukka ; van Koningsbruggen, Silvana ; Wang, Xia ; Schmidt, Wolfgang M. ; Koivunen, Peppi ; Uusimaa, Johanna
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2019-10, Vol.21 (10), p.2355-2363
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Analysis of human brain tissue derived from DBS surgery
Author / Creator:Kangas, Salla M ; Teppo, Jaakko ; Lahtinen, Maija J ; Suoranta, Anu ; Ghimire, Bishwa ; Mattila, Pirkko ; Uusimaa, Johanna ; Varjosalo, Markku ; Katisko, Jani ; Hinttala, Reetta
Publisher:England: BioMed Central
Journal title:Translational neurodegeneration, 2022-04, Vol.11 (1), p.22-22, Article 22
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Optical Genome Mapping Identifies a Second Xq27.1 Rearrangement Associated With Charcot–Marie–Tooth Neuropathy CMTX3
Author / Creator:Rahikkala, Elisa ; Komulainen‐Ebrahim, Jonna ; Tolonen, Jussi‐Pekka ; Vorimo, Sandra ; Suo‐Palosaari, Maria ; Vieira, Päivi ; Piispala, Johanna ; Uusimaa, Johanna ; Pylkäs, Katri ; Mantere, Tuomo
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2024-09, Vol.12 (9), p.e70014-n/a
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Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene
Author / Creator:Uusimaa, Johanna ; Evans, Julie ; Smith, Conrad ; Butterworth, Anna ; Craig, Kate ; Ashley, Neil ; Liao, Chunyan ; Carver, Janet ; Diot, Alan ; Macleod, Lorna ; Hargreaves, Iain ; Al-Hussaini, Abdulrahman ; Faqeih, Eissa ; Asery, Ali ; Al Balwi, Mohammed ; Eyaid, Wafaa ; Al-Sunaid, Areej ; Kelly, Deirdre ; van Mourik, Indra ; Ball, Sarah ; Jarvis, Joanna ; Mulay, Arundhati ; Hadzic, Nedim ; Samyn, Marianne ; Baker, Alastair ; Rahman, Shamima ; Stewart, Helen ; Morris, Andrew Am ; Seller, Anneke ; Fratter, Carl ; Taylor, Robert W ; Poulton, Joanna
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2014-02, Vol.22 (2), p.184-191
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Case report: a novel frameshift mutation in the mitochondrial cytochrome c oxidase II gene causing mitochondrial disorder
Author / Creator:Kytövuori, Laura ; Kärppä, Mikko ; Tuominen, Hannu ; Uusimaa, Johanna ; Saari, Markku ; Hinttala, Reetta ; Majamaa, Kari
Publisher:England: BioMed Central
Journal title:BMC neurology, 2017-05, Vol.17 (1), p.96-96, Article 96
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Modeling Rare Human Disorders in Mice: The Finnish Disease Heritage
Author / Creator:Zárybnický, Tomáš ; Heikkinen, Anne ; Kangas, Salla M ; Karikoski, Marika ; Martínez-Nieto, Guillermo Antonio ; Salo, Miia H ; Uusimaa, Johanna ; Vuolteenaho, Reetta ; Hinttala, Reetta ; Sipilä, Petra ; Kuure, Satu
Publisher:Switzerland: MDPI AG
Journal title:Cells (Basel, Switzerland), 2021-11, Vol.10 (11), p.3158
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Renal Phenotype in Mitochondrial Diseases: A Multicenter Study
Author / Creator:Parasyri, Maria ; Brandström, Per ; Uusimaa, Johanna ; Ostergaard, Elsebet ; Hikmat, Omar ; Isohanni, Pirjo ; Naess, Karin ; de Coo, I.F.M. ; Nascimento Osorio, Andrés ; Nuutinen, Matti ; Lindberg, Christopher ; Bindoff, Laurence A. ; Tulinius, Már ; Darin, Niklas ; Sofou, Kalliopi
Publisher:Basel, Switzerland: S. Karger AG
Journal title:Kidney diseases, 2022-01, Vol.8 (2), p.148-159
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The impact of gender, puberty, and pregnancy in patients with POLG disease
Author / Creator:Hikmat, Omar ; Naess, Karin ; Engvall, Martin ; Klingenberg, Claus ; Rasmussen, Magnhild ; Tallaksen, Chantal M. E. ; Samsonsen, Christian ; Brodtkorb, Eylert ; Ostergaard, Elsebet ; de Coo, Rene ; Pias‐Peleteiro, Leticia ; Isohanni, Pirjo ; Uusimaa, Johanna ; Darin, Niklas ; Rahman, Shamima ; Bindoff, Laurence A.
Publisher:Bognor Regis: John Wiley & Sons, Inc
Journal title:Annals of clinical and translational neurology, 2020-10, Vol.7 (10), p.2019-2025
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Insights into pancreatic β cell energy metabolism using rodent β cell models
Author / Creator:Morten, Karl J ; Potter, Michelle ; Badder, Luned ; Sivathondan, Pamela ; Dragovic, Rebecca ; Neumann, Abigale ; Gavin, James ; Shrestha, Roshan ; Reilly, Svetlana ; Phadwal, Kanchan ; Lodge, Tiffany A ; Borzychowski, Angela ; Cookson, Sharon ; Mitchell, Corey ; Morovat, Alireza ; Simon, Anna Katharina ; Uusimaa, Johanna ; Hynes, James ; Poulton, Joanna
Publisher:London: Wellcome Trust Limited
Journal title:Wellcome open research, 2017-01, Vol.2, p.14-14
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POLG1 p.R722H mutation associated with multiple mtDNA deletions and a neurological phenotype
Author / Creator:Komulainen, Tuomas ; Hinttala, Reetta ; Kärppä, Mikko ; Pajunen, Leila ; Finnilä, Saara ; Tuominen, Hannu ; Rantala, Heikki ; Hassinen, Ilmo ; Majamaa, Kari ; Uusimaa, Johanna
Publisher:England: BioMed Central Ltd
Journal title:BMC neurology, 2010-05, Vol.10 (1), p.29-29, Article 29
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Phenotype-genotype correlations in Leigh syndrome: new insights from a multicentre study of 96 patients
Author / Creator:Sofou, Kalliopi ; de Coo, Irenaeus F M ; Ostergaard, Elsebet ; Isohanni, Pirjo ; Naess, Karin ; De Meirleir, Linda ; Tzoulis, Charalampos ; Uusimaa, Johanna ; Lönnqvist, Tuula ; Bindoff, Laurence Albert ; Tulinius, Már ; Darin, Niklas
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of medical genetics, 2018-01, Vol.55 (1), p.21-27
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A novel pathogenic SLC A missense variant in epilepsy of infancy with migrating focal seizures causes impaired KCC chloride extrusion
Author / Creator:Järvelä, Viivi ; Hamze, Mira ; Komulainen-Ebrahim, Jonna ; Rahikkala, Elisa ; Piispala, Johanna ; Kallio, Mika ; Kangas, Salla ; Nickl, Tereza ; Huttula, Marko ; Hinttala, Reetta ; Uusimaa, Johanna ; Medina, Igor ; Immonen, Esa-Ville
Publisher:Frontiers Media
Journal title:Frontiers in molecular neuroscience, 2024-04, Vol.17
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FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study

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Structural analysis of human NHLRC2, mutations of which are associated with FINCA disease

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A sustainable artificial-intelligence-augmented digital care pathway for epilepsy: Automating seizure tracking based on electroencephalogram data using artificial intelligence

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A multicenter study on Leigh syndrome: disease course and predictors of survival

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The Finnish genetic heritage in 2022 – from diagnosis to translational research

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Variant in NHLRC2 leads to increased hnRNP C2 in developing neurons and the hippocampus of a mouse model of FINCA disease

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A novel pathogenic SLC12A5 missense variant in epilepsy of infancy with migrating focal seizures causes impaired KCC2 chloride extrusion

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Novel patients with NHLRC2 variants expand the phenotypic spectrum of FINCA disease

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Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome)

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Analysis of human brain tissue derived from DBS surgery

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Optical Genome Mapping Identifies a Second Xq27.1 Rearrangement Associated With Charcot–Marie–Tooth Neuropathy CMTX3

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Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene

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Case report: a novel frameshift mutation in the mitochondrial cytochrome c oxidase II gene causing mitochondrial disorder

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Modeling Rare Human Disorders in Mice: The Finnish Disease Heritage

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Renal Phenotype in Mitochondrial Diseases: A Multicenter Study

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The impact of gender, puberty, and pregnancy in patients with POLG disease

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Insights into pancreatic β cell energy metabolism using rodent β cell models

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POLG1 p.R722H mutation associated with multiple mtDNA deletions and a neurological phenotype

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Phenotype-genotype correlations in Leigh syndrome: new insights from a multicentre study of 96 patients

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A novel pathogenic SLC A missense variant in epilepsy of infancy with migrating focal seizures causes impaired KCC chloride extrusion

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