检索结果 - Tarja Joensuu

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  1. 1
    Molecular background of EPM1—Unverricht–Lundborg disease

    Molecular background of EPM1—Unverricht–Lundborg disease 由 Tarja Joensuu, Anna‐Elina Lehesjoki, Outi Kopra

    出版 2007
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  2. 2
    Cystatin B: mutation detection, alternative splicing and expression in progressive myclonus epilepsy of Unverricht-Lundborg type (EPM1) patients

    Cystatin B: mutation detection, alternative splicing and expression in progressive myclonus epilepsy of Unverricht-Lundborg type (EPM1) patients 由 Tarja Joensuu, Mervi Kuronen, Kirsi Alakurtti, Saara Tegelberg, Paula Hakala, Antti Aalto, Laura Huopaniemi, Nina Aula, Roberto Michellucci, Kai Eriksson, Anna‐Elina Lehesjoki

    出版 2006
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  3. 3
    Cystatin B Deficiency Sensitizes Neurons to Oxidative Stress in Progressive Myoclonus Epilepsy, EPM1

    Cystatin B Deficiency Sensitizes Neurons to Oxidative Stress in Progressive Myoclonus Epilepsy, EPM1 由 Maria K. Lehtinen, Saara Tegelberg, Hyman M. Schipper, Haixiang Su, Hillel Zukor, Otto Manninen, Outi Kopra, Tarja Joensuu, Paula Hakala, Azad Bonni, Anna‐Elina Lehesjoki

    出版 2009
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  4. 4
    Gene Expression Alterations in the Cerebellum and Granule Neurons of Cstb−/− Mouse Are Associated with Early Synaptic Changes and Inflammation

    Gene Expression Alterations in the Cerebellum and Granule Neurons of Cstb−/− Mouse Are Associated with Early Synaptic Changes and Inflammation 由 Tarja Joensuu, Saara Tegelberg, Eva Reinmaa, Mikael Segerstråle, Paula Hakala, Heidi Pehkonen, Esa R. Korpi, Jaana Tyynelä, Tomi Taira, Iiris Hovatta, Outi Kopra, Anna‐Elina Lehesjoki

    出版 2014
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  5. 5
    Mutations in a Novel Gene with Transmembrane Domains Underlie Usher Syndrome Type 3

    Mutations in a Novel Gene with Transmembrane Domains Underlie Usher Syndrome Type 3 由 Tarja Joensuu, Riikka H. Hämäläinen, Bo Yuan, Cheryl K.H. Johnson, Saara Tegelberg, Paolo Gasparini, Leopoldo Zelante, Ulla Pirvola, Leenamaija Pakarinen, Anna‐Elina Lehesjoki, Albert de la Chapelle, Eeva‐Marja Sankila

    出版 2001
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    Artigo
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  6. 6
    USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses

    USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses 由 Avital Adato, Sarah Vreugde, Tarja Joensuu, Nili Avidan, Riikka H. Hämäläinen, Olga Belenkiy, Tsviya Olender, Batsheva Bonné‐Tamir, Edna Ben‐Asher, Carmen Espinós, José M. Millán, Anna‐Elina Lehesjoki, John G. Flannery, Karen B. Avraham, Shmuel Pietrokovski, Eeva-Marja Sankila, J. Beckmann, Doron Lancet

    出版 2002
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  7. 7
    Development of a genotyping microarray for Usher syndrome

    Development of a genotyping microarray for Usher syndrome 由 F.P.M. Cremers, William J. Kimberling, Maigi Külm, Arjan Pm de Brouwer, Erwin van Wijk, Heleen te Brinke, Cor W. R. J. Cremers, Lies H. Hoefsloot, Sandro Banfi, Francesca Simonelli, Johannes Fleischhauer, Wolfgang Berger, Phillip M. Kelley, Elene Haralambous, Maria Bitner‐Glindzicz, Andrew R. Webster, Zubin Saihan, Elfride De Baere, Bart Leroy, Giuliana Silvestri, Gareth J. McKay, Robert K. Koenekoop, José M. Millán, Thomas Rosenberg, Tarja Joensuu, Eeva‐Marja Sankila, Dominique Weil, Michael D. Weston, Bernd Wissinger, Hannie Kremer

    出版 2006
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  8. 8
    Progressive myoclonus epilepsies—Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes

    Progressive myoclonus epilepsies—Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes 由 Carolina Courage, Karen Oliver, Eon Joo Park, Jillian M. Cameron, Kariona A. Grabińska, Mikko Muona, Laura Canafoglia, Antonio Gambardella, Edith Said, Zaid Afawi, Betül Baykan, Christian Brandt, Carlo Di Bonaventura, Hui Bein Chew, Chiara Criscuolo, Leanne M. Dibbens, Barbara Castellotti, P. Riguzzi, Angelo Labate, Alessandro Filla, Anna Teresa Giallonardo, Géza Berecki, Christopher B. Jackson, Tarja Joensuu, John A. Damiano, Sara Kivity, Amos D. Korczyn, Aarno Palotie, Pasquale Striano, Davide Uccellini, Loretta Giuliano, Eva Andermann, Ingrid E. Scheffer, Roberto Michelucci, Melanie Bahlo, Silvana Franceschetti, William C. Sessa, Samuel F. Berkovic, Anna‐Elina Lehesjoki

    出版 2021
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  9. 9
    A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

    A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy 由 Mikko Muona, Samuel F. Berkovic, Leanne M. Dibbens, Karen Oliver, Snezana Maljevic, Marta A. Bayly, Tarja Joensuu, Laura Canafoglia, Silvana Franceschetti, Roberto Michelucci, Salla Markkinen, Sarah E. Heron, Michael S. Hildebrand, Eva Andermann, Frédérick Andermann, Antonio Gambardella, Paolo Tinuper, Laura Licchetta, Ingrid E. Scheffer, Chiara Criscuolo, Alessandro Filla, Edoardo Ferlazzo, Jamil Ahmad, Adeel Ahmad, Betül Baykan, Edith Said, Meral Topçu, P. Riguzzi, Mary D. King, Çiğdem Özkara, Danielle M. Andrade, Bernt A. Engelsen, Arielle Crespel, Matthias Lindenau, Ebba Lohmann, Veronica Saletti, João Massano, Michael Privitera, Alberto J. Espay, Brice Kauffmann, Michael Duchowny, Rikke S. Møller, Rachel Straussberg, Zaid Afawi, Bruria Ben‐Zeev, Kaitlin E. Samocha, Mark J. Daly, Steven Petrou, Holger Lerche, Aarno Palotie, Anna-Elina Lehesjoki

    出版 2014
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