Cystatin B-deficiency triggers ectopic histone H3 tail cleavage during neurogenesis
Daura, Eduard, Tegelberg, Saara, Yoshihara, Masahito, Jackson, Christopher, Simonetti, Francesca, Aksentjeff, Katri, Ezer, Sini, Hakala, Paula, Katayama, Shintaro, Kere, Juha, Lehesjoki, Anna-Elina, Joensuu, Tarja
Published in Neurobiology of disease (01.08.2021)
Published in Neurobiology of disease (01.08.2021)
Get full text
Journal Article
Cystatin B deficiency results in sustained histone H3 tail cleavage in postnatal mouse brain mediated by increased chromatin-associated cathepsin L activity
Daura, Eduard, Tegelberg, Saara, Hakala, Paula, Lehesjoki, Anna-Elina, Joensuu, Tarja
Published in Frontiers in molecular neuroscience (30.11.2022)
Published in Frontiers in molecular neuroscience (30.11.2022)
Get full text
Journal Article
Progressive Myoclonus Epilepsy Caused by a Homozygous Splicing Variant of SLC7A6OS
Mazzola, Laure, Oliver, Karen L., Labalme, Audrey, Baykan, Betül, Muona, Mikko, Joensuu, Tarja H., Courage, Carolina, Chatron, Nicolas, Borsani, Giuseppe, Alix, Eudeline, Ramond, Francis, Touraine, Renaud, Bahlo, Melanie, Bebek, Nerses, Berkovic, Samuel F., Lehesjoki, Anna‐Elina, Lesca, Gaetan
Published in Annals of neurology (01.02.2021)
Published in Annals of neurology (01.02.2021)
Get full text
Journal Article
Epilepsies with onset during the first year of life: A prospective study on syndromes, etiologies, and outcomes
Jonsson, Henna, Gaily, Eija, Stjerna, Susanna, Joensuu, Tarja, Johari, Mridul, Lehesjoki, Anna‐Elina, Linnankivi, Tarja
Published in Epilepsia open (01.08.2024)
Published in Epilepsia open (01.08.2024)
Get full text
Journal Article
Gene expression alterations in the cerebellum and granule neurons of Cstb(-/-) mouse are associated with early synaptic changes and inflammation
Joensuu, Tarja, Tegelberg, Saara, Reinmaa, Eva, Segerstråle, Mikael, Hakala, Paula, Pehkonen, Heidi, Korpi, Esa R, Tyynelä, Jaana, Taira, Tomi, Hovatta, Iiris, Kopra, Outi, Lehesjoki, Anna-Elina
Published in PloS one (27.02.2014)
Published in PloS one (27.02.2014)
Get full text
Journal Article
Gene-Expression Profiling Suggests Impaired Signaling via the Interferon Pathway in Cstb-/- Microglia
Körber, Inken, Katayama, Shintaro, Einarsdottir, Elisabet, Krjutškov, Kaarel, Hakala, Paula, Kere, Juha, Lehesjoki, Anna-Elina, Joensuu, Tarja
Published in PloS one (2016)
Published in PloS one (2016)
Get full text
Journal Article
Neonatal Alexander Disease: Novel GFAP Mutation and Comparison to Previously Published Cases
Knuutinen, Oula, Kousi, Maria, Suo-Palosaari, Maria, Moilanen, Jukka S, Tuominen, Hannu, Vainionpää, Leena, Joensuu, Tarja, Anttonen, Anna-Kaisa, Uusimaa, Johanna, Lehesjoki, Anna-Elina, Vieira, Päivi
Published in Neuropediatrics (01.08.2018)
Published in Neuropediatrics (01.08.2018)
Get more information
Journal Article
Mutations in KERA , encoding keratocan, cause cornea plana
de la Chapelle, Albert, Joensuu, Tarja, Pellegata, Natalia S, Montgomery, Kate T, Lau, Stephanie, Krahe, Ralf, Kivelä, Tero, Dieguez-Lucena, Jose L, Forsius, Henrik, Kucherlapati, Raju
Published in Nature genetics (01.05.2000)
Published in Nature genetics (01.05.2000)
Get full text
Journal Article
A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy
Muona, Mikko, Berkovic, Samuel F, Dibbens, Leanne M, Oliver, Karen L, Maljevic, Snezana, Bayly, Marta A, Joensuu, Tarja, Canafoglia, Laura, Franceschetti, Silvana, Michelucci, Roberto, Markkinen, Salla, Heron, Sarah E, Hildebrand, Michael S, Andermann, Eva, Andermann, Frederick, Gambardella, Antonio, Tinuper, Paolo, Licchetta, Laura, Scheffer, Ingrid E, Criscuolo, Chiara, Filla, Alessandro, Ferlazzo, Edoardo, Ahmad, Jamil, Ahmad, Adeel, Baykan, Betul, Said, Edith, Topcu, Meral, Riguzzi, Patrizia, King, Mary D, Ozkara, Cigdem, Andrade, Danielle M, Engelsen, Bernt A, Crespel, Arielle, Lindenau, Matthias, Lohmann, Ebba, Saletti, Veronica, Massano, João, Privitera, Michael, Espay, Alberto J, Kauffmann, Birgit, Duchowny, Michael, Møller, Rikke S, Straussberg, Rachel, Afawi, Zaid, Ben-Zeev, Bruria, Samocha, Kaitlin E, Daly, Mark J, Petrou, Steven, Lerche, Holger, Palotie, Aarno, Lehesjoki, Anna-Elina
Published in Nature genetics (01.01.2015)
Published in Nature genetics (01.01.2015)
Get full text
Journal Article
Progressive myoclonus epilepsies—Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes
Courage, Carolina, Oliver, Karen L., Park, Eon Joo, Cameron, Jillian M., Grabińska, Kariona A., Muona, Mikko, Canafoglia, Laura, Gambardella, Antonio, Said, Edith, Afawi, Zaid, Baykan, Betul, Brandt, Christian, di Bonaventura, Carlo, Chew, Hui Bein, Criscuolo, Chiara, Dibbens, Leanne M., Castellotti, Barbara, Riguzzi, Patrizia, Labate, Angelo, Filla, Alessandro, Giallonardo, Anna T., Berecki, Geza, Jackson, Christopher B., Joensuu, Tarja, Damiano, John A., Kivity, Sara, Korczyn, Amos, Palotie, Aarno, Striano, Pasquale, Uccellini, Davide, Giuliano, Loretta, Andermann, Eva, Scheffer, Ingrid E., Michelucci, Roberto, Bahlo, Melanie, Franceschetti, Silvana, Sessa, William C., Berkovic, Samuel F., Lehesjoki, Anna-Elina
Published in American journal of human genetics (01.04.2021)
Published in American journal of human genetics (01.04.2021)
Get full text
Journal Article
Abnormal microglial activation in the Cstb−/− mouse, a model for progressive myoclonus epilepsy, EPM1
Okuneva, Olesya, Körber, Inken, Li, Zhilin, Tian, Li, Joensuu, Tarja, Kopra, Outi, Lehesjoki, Anna-Elina
Published in Glia (01.03.2015)
Published in Glia (01.03.2015)
Get full text
Journal Article
Brain inflammation is accompanied by peripheral inflammation in Cstb -/- mice, a model for progressive myoclonus epilepsy
Okuneva, Olesya, Li, Zhilin, Körber, Inken, Tegelberg, Saara, Joensuu, Tarja, Tian, Li, Lehesjoki, Anna-Elina
Published in Journal of neuroinflammation (28.11.2016)
Published in Journal of neuroinflammation (28.11.2016)
Get full text
Journal Article
A CRX mutation in a Finnish family with dominant cone-rod retinal dystrophy
Sankila, Eeva-Marja, Joensuu, Tarja H., Hämäläinen, Riikka H., Raitanen, Nina, Valle, Olavi, Ignatius, Jaakko, Cormand, Bru
Published in Human mutation (01.07.2000)
Published in Human mutation (01.07.2000)
Get full text
Journal Article
Refining the phenotype of Unverricht-Lundborg disease (EPM1): a population-wide Finnish study
Hyppönen, Jelena, Äikiä, Marja, Joensuu, Tarja, Julkunen, Petro, Danner, Nils, Koskenkorva, Päivi, Vanninen, Ritva, Lehesjoki, Anna-Elina, Mervaala, Esa, Kälviäinen, Reetta
Published in Neurology (14.04.2015)
Published in Neurology (14.04.2015)
Get more information
Journal Article
Cystatin B Deficiency Sensitizes Neurons to Oxidative Stress in Progressive Myoclonus Epilepsy, EPM1
Lehtinen, Maria K, Tegelberg, Saara, Schipper, Hyman, Su, Haixiang, Zukor, Hillel, Manninen, Otto, Kopra, Outi, Joensuu, Tarja, Hakala, Paula, Bonni, Azad, Lehesjoki, Anna-Elina
Published in The Journal of neuroscience (06.05.2009)
Published in The Journal of neuroscience (06.05.2009)
Get full text
Journal Article
Early Microglial Activation Precedes Neuronal Loss in the Brain of the Cstb−/− Mouse Model of Progressive Myoclonus Epilepsy, EPM1
Tegelberg, Saara, Kopra, Outi, Joensuu, Tarja, Cooper, Jonathan D, Lehesjoki, Anna-Elina
Published in Journal of neuropathology and experimental neurology (01.01.2012)
Published in Journal of neuropathology and experimental neurology (01.01.2012)
Get full text
Journal Article
ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss
Anttonen, Anna-Kaisa, Laari, Anni, Kousi, Maria, Yang, Yawei J, Jääskeläinen, Tiina, Somer, Mirja, Siintola, Eija, Jakkula, Eveliina, Muona, Mikko, Tegelberg, Saara, Lönnqvist, Tuula, Pihko, Helena, Valanne, Leena, Paetau, Anders, Lun, Melody P, Hästbacka, Johanna, Kopra, Outi, Joensuu, Tarja, Katsanis, Nicholas, Lehtinen, Maria K, Palvimo, Jorma J, Lehesjoki, Anna-Elina
Published in Brain (London, England : 1878) (01.05.2017)
Published in Brain (London, England : 1878) (01.05.2017)
Get full text
Journal Article
Gene-Expression Profiling Suggests Impaired Signaling via the Interferon Pathway in Cstb.sup.-/- Microglia
Körber, Inken, Katayama, Shintaro, Einarsdottir, Elisabet, Krjutskov, Kaarel, Hakala, Paula, Kere, Juha, Lehesjoki, Anna-Elina, Joensuu, Tarja
Published in PloS one (29.06.2016)
Published in PloS one (29.06.2016)
Get full text
Journal Article
Abnormal microglial activation in the Cstb super(-/-) mouse, a model for progressive myoclonus epilepsy, EPM1
Okuneva, Olesya, Korber, Inken, Li, Zhilin, Tian, Li, Joensuu, Tarja, Kopra, Outi, Lehesjoki, Anna-Elina
Published in Glia (01.03.2015)
Published in Glia (01.03.2015)
Get full text
Journal Article