Quantitative Changes in the Mitochondrial Proteome of Cerebellar Synaptosomes From Preclinical Cystatin B-Deficient Mice

by Katarin Gorski, Katarin Gorski, Albert Spoljaric, Tuula A. Nyman, Kai Kaila, Brendan J. Battersby, Anna-Elina Lehesjoki, Anna-Elina Lehesjoki
Published 2020-11-01

Genetic modifiers of degeneration in the cathepsin D deficient Drosophila model for neuronal ceroid lipofuscinosis

by Mervi Kuronen, Minnamari Talvitie, Anna-Elina Lehesjoki, Liisa Myllykangas
Published 2009-12-01

Selective spatiotemporal patterns of glial activation and neuron loss in the sensory thalamocortical pathways of neuronal ceroid lipofuscinosis 8 mice

by Mervi Kuronen, Anna-Elina Lehesjoki, Anu Jalanko, Jonathan D. Cooper, Outi Kopra
Published 2012-09-01

Progressive volume loss and white matter degeneration in cstb-deficient mice: a diffusion tensor and longitudinal volumetry MRI study.

by Otto Manninen, Teemu Laitinen, Kimmo K Lehtimäki, Saara Tegelberg, Anna-Elina Lehesjoki, Olli Gröhn, Outi Kopra
Published 2014-01-01

Gene-Expression Profiling Suggests Impaired Signaling via the Interferon Pathway in Cstb-/- Microglia.

by Inken Körber, Shintaro Katayama, Elisabet Einarsdottir, Kaarel Krjutškov, Paula Hakala, Juha Kere, Anna-Elina Lehesjoki, Tarja Joensuu
Published 2016-01-01

Progressive Myoclonic Epilepsy and NEU1 Mutation: A Different Phenotypic Case

by Ebru Nur Vanlı Yavuz, Güneş Altıokka, Zeliha Matur, Mikko Muona, Nerses Bebek, Candan Gürses, Anna Elina Lehesjoki, Ayşen Gökyiğit, Betül Baykan
Published 2016-06-01

Impaired osteoclast homeostasis in the cystatin B-deficient mouse model of progressive myoclonus epilepsy

by Otto Manninen, Tero Puolakkainen, Jemina Lehto, Elina Harittu, Aki Kallonen, Marko Peura, Tiina Laitala-Leinonen, Outi Kopra, Riku Kiviranta, Anna-Elina Lehesjoki
Published 2015-12-01

Cystatin B-deficiency triggers ectopic histone H3 tail cleavage during neurogenesis

by Eduard Daura, Saara Tegelberg, Masahito Yoshihara, Christopher Jackson, Francesca Simonetti, Katri Aksentjeff, Sini Ezer, Paula Hakala, Shintaro Katayama, Juha Kere, Anna-Elina Lehesjoki, Tarja Joensuu
Published 2021-08-01

Gene expression alterations in the cerebellum and granule neurons of Cstb(-/-) mouse are associated with early synaptic changes and inflammation.

by 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
Published 2014-01-01

Trim37-deficient mice recapitulate several features of the multi-organ disorder Mulibrey nanism

by Kaisa M. Kettunen, Riitta Karikoski, Riikka H. Hämäläinen, Teija T. Toivonen, Vasily D. Antonenkov, Natalia Kulesskaya, Vootele Voikar, Maarit Hölttä-Vuori, Elina Ikonen, Kirsi Sainio, Anu Jalanko, Susann Karlberg, Niklas Karlberg, Marita Lipsanen-Nyman, Jorma Toppari, Matti Jauhiainen, J. Kalervo Hiltunen, Hannu Jalanko, Anna-Elina Lehesjoki
Published 2016-05-01

Rare gene deletions in genetic generalized and Rolandic epilepsies.

by Kamel Jabbari, Dheeraj R Bobbili, Dennis Lal, Eva M Reinthaler, Julian Schubert, Stefan Wolking, Vishal Sinha, Susanne Motameny, Holger Thiele, Amit Kawalia, Janine Altmüller, Mohammad Reza Toliat, Robert Kraaij, Jeroen van Rooij, André G Uitterlinden, M Arfan Ikram, EuroEPINOMICS CoGIE Consortium, Federico Zara, Anna-Elina Lehesjoki, Roland Krause, Fritz Zimprich, Thomas Sander, Bernd A Neubauer, Patrick May, Holger Lerche, Peter Nürnberg
Published 2018-01-01

Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes.

by Dennis Lal, Eva M Reinthaler, Borislav Dejanovic, Patrick May, Holger Thiele, Anna-Elina Lehesjoki, Günter Schwarz, Erik Riesch, M Arfan Ikram, Cornelia M van Duijn, Andre G Uitterlinden, Albert Hofman, Hannelore Steinböck, Ursula Gruber-Sedlmayr, Birgit Neophytou, Federico Zara, Andreas Hahn, Genetic Commission of the Italian League against Epilepsy, EuroEPINOMICS CoGIE Consortium, Padhraig Gormley, Felicitas Becker, Yvonne G Weber, Maria Roberta Cilio, Wolfram S Kunz, Roland Krause, Fritz Zimprich, Johannes R Lemke, Peter Nürnberg, Thomas Sander, Holger Lerche, Bernd A Neubauer
Published 2016-01-01