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

ανά Biterova, Ekaterina, Ignatyev, Alexander, Uusimaa, Johanna, Hinttala, Reetta, Ruddock, Lloyd W.
Τόπος έκδοσης PLoS One (2018)

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

ανά Kytövuori, Laura, Kärppä, Mikko, Tuominen, Hannu, Uusimaa, Johanna, Saari, Markku, Hinttala, Reetta, Majamaa, Kari
Τόπος έκδοσης BMC Neurol (2017)

Mitochondrial hearing loss mutations among Finnish preterm and term-born infants

ανά Soini, Heidi K., Karjalainen, Minna K., Hinttala, Reetta, Rautio, Arja, Hallman, Mikko, Uusimaa, Johanna
Τόπος έκδοσης Audiol Res (2017)

A novel MTTT mutation m.15933G > A revealed in analysis of mitochondrial DNA in patients with suspected mitochondrial disease

ανά Soini, Heidi K., Väisänen, Antti, Kärppä, Mikko, Hinttala, Reetta, Kytövuori, Laura, Moilanen, Jukka S., Uusimaa, Johanna, Majamaa, Kari
Τόπος έκδοσης BMC Med Genet (2017)

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

ανά Komulainen, Tuomas, Hinttala, Reetta, Kärppä, Mikko, Pajunen, Leila, Finnilä, Saara, Tuominen, Hannu, Rantala, Heikki, Hassinen, Ilmo, Majamaa, Kari, Uusimaa, Johanna
Έκδοση 2010

Prospective study of POLG mutations presenting in children with intractable epilepsy: Prevalence and clinical features

ανά Uusimaa, Johanna, Gowda, Vasantha, McShane, Anthony, Smith, Conrad, Evans, Julie, Shrier, Annie, Narasimhan, Manisha, O'Rourke, Anthony, Rajabally, Yusuf, Hedderly, Tammy, Cowan, Frances, Fratter, Carl, Poulton, Joanna
Έκδοση 2013

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

ανά 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
Τόπος έκδοσης Mol Med (2020)

Mitochondrial DNA Depletion and Deletions in Paediatric Patients with Neuromuscular Diseases: Novel Phenotypes

ανά Komulainen, Tuomas, Hautakangas, Milla-Riikka, Hinttala, Reetta, Pakanen, Salla, Vähäsarja, Vesa, Lehenkari, Petri, Olsen, Päivi, Vieira, Päivi, Saarenpää-Heikkilä, Outi, Palmio, Johanna, Tuominen, Hannu, Kinnunen, Pietari, Majamaa, Kari, Rantala, Heikki, Uusimaa, Johanna
Τόπος έκδοσης JIMD Rep (2015)

Ataxia-pancytopenia syndrome with SAMD9L mutations

ανά Gorcenco, Sorina, Komulainen-Ebrahim, Jonna, Nordborg, Karin, Suo-Palosaari, Maria, Andréasson, Sten, Krüger, Johanna, Nilsson, Christer, Kjellström, Ulrika, Rahikkala, Elisa, Turkiewicz, Dominik, Karlberg, Mikael, Nilsson, Lars, Cammenga, Jörg, Tedgård, Ulf, Davidsson, Josef, Uusimaa, Johanna, Puschmann, Andreas
Τόπος έκδοσης Neurol Genet (2017)

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

ανά 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
Έκδοση 2014

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

ανά 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.
Τόπος έκδοσης Ann Clin Transl Neurol (2020)

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

ανά 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
Τόπος έκδοσης Wellcome Open Res (2019)

FGF21 is a biomarker for mitochondrial translation and mtDNA maintenance disorders

ανά Lehtonen, Jenni M., Forsström, Saara, Bottani, Emanuela, Viscomi, Carlo, Baris, Olivier R., Isoniemi, Helena, Höckerstedt, Krister, Österlund, Pia, Hurme, Mikko, Jylhävä, Juulia, Leppä, Sirpa, Markkula, Ritva, Heliö, Tiina, Mombelli, Giuliana, Uusimaa, Johanna, Laaksonen, Reijo, Laaksovirta, Hannu, Auranen, Mari, Zeviani, Massimo, Smeitink, Jan, Wiesner, Rudolf J., Nakada, Kazuto, Isohanni, Pirjo, Suomalainen, Anu
Τόπος έκδοσης Neurology (2016)

Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms

ανά Tesi, Bianca, Davidsson, Josef, Voss, Matthias, Rahikkala, Elisa, Holmes, Tim D., Chiang, Samuel C. C., Komulainen-Ebrahim, Jonna, Gorcenco, Sorina, Rundberg Nilsson, Alexandra, Ripperger, Tim, Kokkonen, Hannaleena, Bryder, David, Fioretos, Thoas, Henter, Jan-Inge, Möttönen, Merja, Niinimäki, Riitta, Nilsson, Lars, Pronk, Cornelis Jan, Puschmann, Andreas, Qian, Hong, Uusimaa, Johanna, Moilanen, Jukka, Tedgård, Ulf, Cammenga, Jörg, Bryceson, Yenan T.
Τόπος έκδοσης Blood (2017)

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

ανά 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
Τόπος έκδοσης Genet Med (2019)

FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study

ανά Suomalainen, Anu, Elo, Jenni M, Pietiläinen, Kirsi H, Hakonen, Anna H, Sevastianova, Ksenia, Korpela, Mari, Isohanni, Pirjo, Marjavaara, Sanna K, Tyni, Tiina, Kiuru-Enari, Sari, Pihko, Helena, Darin, Niklas, Õunap, Katrin, Kluijtmans, Leo A J, Paetau, Anders, Buzkova, Jana, Bindoff, Laurence A, Annunen-Rasila, Johanna, Uusimaa, Johanna, Rissanen, Aila, Yki-Järvinen, Hannele, Hirano, Michio, Tulinius, Mar, Smeitink, Jan, Tyynismaa, Henna
Τόπος έκδοσης Lancet Neurol (2011)

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

ανά 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
Έκδοση 2014

Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency

ανά Hathazi, Denisa, Griffin, Helen, Jennings, Matthew J, Giunta, Michele, Powell, Christopher, Pearce, Sarah F, Munro, Benjamin, Wei, Wei, Boczonadi, Veronika, Poulton, Joanna, Pyle, Angela, Calabrese, Claudia, Gomez‐Duran, Aurora, Schara, Ulrike, Pitceathly, Robert D S, Hanna, Michael G, Joost, Kairit, Cotta, Ana, Paim, Julia Filardi, Navarro, Monica Machado, Duff, Jennifer, Mattman, Andre, Chapman, Kristine, Servidei, Serenella, Della Marina, Adela, Uusimaa, Johanna, Roos, Andreas, Mootha, Vamsi, Hirano, Michio, Tulinius, Mar, Giri, Mamta, Hoffmann, Eric P, Lochmüller, Hanns, DiMauro, Salvatore, Minczuk, Michal, Chinnery, Patrick F, Müller, Juliane S, Horvath, Rita
Τόπος έκδοσης EMBO J (2020)

Biallelic Mutations in PDE10A Lead to Loss of Striatal PDE10A and a Hyperkinetic Movement Disorder with Onset in Infancy

ανά Diggle, Christine P., Sukoff Rizzo, Stacey J., Popiolek, Michael, Hinttala, Reetta, Schülke, Jan-Philip, Kurian, Manju A., Carr, Ian M., Markham, Alexander F., Bonthron, David T., Watson, Christopher, Sharif, Saghira Malik, Reinhart, Veronica, James, Larry C., Vanase-Frawley, Michelle A., Charych, Erik, Allen, Melanie, Harms, John, Schmidt, Christopher J., Ng, Joanne, Pysden, Karen, Strick, Christine, Vieira, Päivi, Mankinen, Katariina, Kokkonen, Hannaleena, Kallioinen, Matti, Sormunen, Raija, Rinne, Juha O., Johansson, Jarkko, Alakurtti, Kati, Huilaja, Laura, Hurskainen, Tiina, Tasanen, Kaisa, Anttila, Eija, Marques, Tiago Reis, Howes, Oliver, Politis, Marius, Fahiminiya, Somayyeh, Nguyen, Khanh Q., Majewski, Jacek, Uusimaa, Johanna, Sheridan, Eamonn, Brandon, Nicholas J.
Τόπος έκδοσης Am J Hum Genet (2016)

Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy

ανά O’Toole, John F., Liu, Yangjian, Davis, Erica E., Westlake, Christopher J., Attanasio, Massimo, Otto, Edgar A., Seelow, Dominik, Nurnberg, Gudrun, Becker, Christian, Nuutinen, Matti, Kärppä, Mikko, Ignatius, Jaakko, Uusimaa, Johanna, Pakanen, Salla, Jaakkola, Elisa, van den Heuvel, Lambertus P., Fehrenbach, Henry, Wiggins, Roger, Goyal, Meera, Zhou, Weibin, Wolf, Matthias T.F., Wise, Eric, Helou, Juliana, Allen, Susan J., Murga-Zamalloa, Carlos A., Ashraf, Shazia, Chaki, Moumita, Heeringa, Saskia, Chernin, Gil, Hoskins, Bethan E., Chaib, Hassan, Gleeson, Joseph, Kusakabe, Takehiro, Suzuki, Takako, Isaac, R. Elwyn, Quarmby, Lynne M., Tennant, Bryan, Fujioka, Hisashi, Tuominen, Hannu, Hassinen, Ilmo, Lohi, Hellevi, van Houten, Judith L., Rotig, Agnes, Sayer, John A., Rolinski, Boris, Freisinger, Peter, Madhavan, Sethu M., Herzer, Martina, Madignier, Florence, Prokisch, Holger, Nurnberg, Peter, Jackson, Peter K., Khanna, Hemant, Katsanis, Nicholas, Hildebrandt, Friedhelm
Έκδοση 2010