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Cystatin B is essential for proliferation and interneuron migration in individuals with EPM1 epilepsy
Author / Creator:Di Matteo, Francesco ; Pipicelli, Fabrizia ; Kyrousi, Christina ; Tovecci, Isabella ; Penna, Eduardo ; Crispino, Marianna ; Chambery, Angela ; Russo, Rosita ; Ayo‐Martin, Ane Cristina ; Giordano, Martina ; Hoffmann, Anke ; Ciusani, Emilio ; Canafoglia, Laura ; Götz, Magdalena ; Di Giaimo, Rossella ; Cappello, Silvia
Publisher:London: Nature Publishing Group UK
Journal title:EMBO molecular medicine, 2020-06, Vol.12 (6), p.e11419-n/a
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Early Microglial Activation Precedes Neuronal Loss in the Brain of the Cstb−/− Mouse Model of Progressive Myoclonus Epilepsy, EPM1
Author / Creator:Tegelberg, Saara ; Kopra, Outi ; Joensuu, Tarja ; Cooper, Jonathan D. ; Lehesjoki, Anna-Elina
Publisher:Hagerstown, MD: American Association of Neuropathologists, Inc
Journal title:Journal of neuropathology and experimental neurology, 2012-01, Vol.71 (1), p.40-53
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The network sustaining action myoclonus: a MEG-EMG study in patients with EPM1
Author / Creator:Franceschetti, Silvana ; Canafoglia, Laura ; Rotondi, Fabio ; Visani, Elisa ; Granvillano, Alice ; Panzica, Ferruccio
Publisher:England: BioMed Central Ltd
Journal title:BMC neurology, 2016-11, Vol.16 (1), p.214-214, Article 214
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3D Texture Analysis Reveals Imperceptible MRI Textural Alterations in the Thalamus and Putamen in Progressive Myoclonic Epilepsy Type 1, EPM1
Author / Creator:Suoranta, Sanna ; Holli-Helenius, Kirsi ; Koskenkorva, Päivi ; Niskanen, Eini ; Könönen, Mervi ; Äikiä, Marja ; Eskola, Hannu ; Kälviäinen, Reetta ; Vanninen, Ritva
Publisher:United States: Public Library of Science
Journal title:PloS one, 2013-07, Vol.8 (7), p.e69905-e69905
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Cystatin B: mutation detection, alternative splicing and expression in progressive myclonus epilepsy of Unverricht-Lundborg type (EPM1) patients
Author / Creator:Joensuu, Tarja ; Kuronen, Mervi ; Alakurtti, Kirsi ; Tegelberg, Saara ; Hakala, Paula ; Aalto, Antti ; Huopaniemi, Laura ; Aula, Nina ; Michellucci, Roberto ; Eriksson, Kai ; Lehesjoki, Anna-Elina
Publisher:Cham: Springer International Publishing
Journal title:European journal of human genetics : EJHG, 2007-02, Vol.15 (2), p.185-193
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Cerebellar Involvement in Patients with Mild to Moderate Myoclonus Due to EPM1: Structural and Functional MRI Findings in Comparison with Healthy Controls and Ataxic Patients
Author / Creator:Nigri, Anna ; Visani, Elisa ; Bertolino, Nicola ; Nanetti, Lorenzo ; Mariotti, Caterina ; Panzeri, Marta ; Bruzzone, Maria Grazia ; Franceschetti, Silvana ; Canafoglia, Laura
Publisher:New York: Springer US
Journal title:Brain topography, 2017-05, Vol.30 (3), p.380-389
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Severer Phenotype in Unverricht-Lundborg Disease (EPM1) Patients Compound Heterozygous for the Dodecamer Repeat Expansion and the c.202C>T Mutation in the CSTB Gene
Author / Creator:Koskenkorva, Päivi ; Hyppönen, Jelena ; Äikiä, Marja ; Mervaala, Esa ; Kiviranta, Tuula ; Eriksson, Kai ; Lehesjoki, Anna-Elina ; Vanninen, Ritva ; Kälviäinen, Reetta
Publisher:Basel, Switzerland: S. Karger AG
Journal title:Neuro-degenerative diseases, 2011-01, Vol.8 (6), p.515-522
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Mutations in the Gene Encoding Cystatin B in Progressive Myoclonus Epilepsy (EPM1)
Author / Creator:Pennacchio, Len A. ; Lehesjoki, Anna-Elina ; Stone, Nancy E. ; Willour, Virginia L. ; Virtaneva, Kimmo ; Miao, Jinmin ; D'Amato, Elena ; Ramirez, Lucia ; Faham, Malek ; Koskiniemi, Marjaleena ; Warrington, Janet A. ; Norio, Reijo ; de la Chapelle, Albert ; Cox, David R. ; Myers, Richard M.
Publisher:Washington, DC: American Society for the Advancement of Science
Journal title:Science (American Association for the Advancement of Science), 1996-03, Vol.271 (5256), p.1731-1734
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Loss of lysosomal association of cystatin B proteins representing progressive myoclonus epilepsy, EPM1, mutations
Author / Creator:Alakurtti, Kirsi ; Weber, Ekkehard ; Rinne, Riitta ; Theil, Gerit ; Haan, Gerrit-Jan de ; Lindhout, Dick ; Salmikangas, Paula ; Saukko, Pekka ; Lahtinen, Ulla ; Lehesjoki, Anna-Elina
Publisher:Cham: Springer International Publishing
Journal title:European journal of human genetics : EJHG, 2005-02, Vol.13 (2), p.208-215
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Apoptosis caused by cathepsins does not require Bid signaling in an in vivo model of progressive myoclonus epilepsy (EPM1)
Author / Creator:Houseweart, M K ; Vilaythong, A ; Yin, X-M ; Turk, B ; Noebels, J L ; Myers, R M
Publisher:London: Nature Publishing Group UK
Journal title:Cell death and differentiation, 2003-12, Vol.10 (12), p.1329-1335
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Early Microglial Activation Precedes Neuronal Loss in the Brain of the Cstb^sup -/-^ Mouse Model of Progressive Myoclonus Epilepsy, EPM1
Author / Creator:Tegelberg, Saara ; Kopra, Outi ; Joensuu, Tarja ; Cooper, Jonathan D ; Lehesjoki, Anna-Elina
Publisher:Cary: Oxford University Press
Journal title:Journal of neuropathology and experimental neurology, 2012-01, Vol.71 (1), p.40
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Human stefin B normal and patho-physiological role: molecular and cellular aspects of amyloid-type aggregation of certain EPM1 mutants
Author / Creator:Polajnar, Mira ; Čeru, Slavko ; Kopitar-Jerala, Nataša ; Žerovnik, Eva
Publisher:Switzerland: Frontiers Research Foundation
Journal title:Frontiers in molecular neuroscience, 2012-01, Vol.5, p.88
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In depth behavioral phenotyping unravels complex motor disturbances in Cstb−/− mouse, a model for progressive myoclonus epilepsy type 1
Author / Creator:Pollari, Eveliina ; Tegelberg, Saara ; Björklund, Harry ; Kälviäinen, Reetta ; Lehesjoki, Anna-Elina ; Haapalinna, Antti
Publisher:Switzerland: Frontiers Research Foundation
Journal title:Frontiers in behavioral neuroscience, 2023-12, Vol.17, p.1325051-1325051
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Intrinsic and extrinsic mechanisms alter neural cell fate specification in EPM1 Epilepsy
Publisher:NewsRX LLC
Journal title:Obesity, fitness, & wellness week, 2024-12, p.2071
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Human stefin B: from its structure, folding, and aggregation to its function in health and disease
Author / Creator:Žerovnik, Eva
Publisher:Lausanne: Frontiers Research Foundation
Journal title:Frontiers in molecular neuroscience, 2022-10, Vol.15, p.1009976-1009976
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The Roles of Cystatin B in the Brain and Pathophysiological Mechanisms of Progressive Myoclonic Epilepsy Type 1
Author / Creator:Singh, Shekhar ; Hämäläinen, Riikka H.
Publisher:Switzerland: MDPI AG
Journal title:Cells (Basel, Switzerland), 2024-01, Vol.13 (2), p.170
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Loss of lysosomal association of cystatin B proteins representing progressive myoclonus epilepsy, EPM1, mutations
Author / Creator:Alakurtti, Kirsi ; Weber, Ekkehard ; Rinne, Riitta ; Theil, Gerit ; de Haan, Gerrit-Jan ; Lindhout, Dick ; Salmikangas, Paula ; Saukko, Pekka ; Lahtinen, Ulla ; Anna-Elina Lehesjoki
Publisher:Leiden: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2005-02, Vol.13 (2), p.264
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Cystatin B: mutation detection, alternative splicing and expression in progressive myclonus epilepsy of Unverricht-Lundborg type (EPM1) patients
Author / Creator:Joensuu, Tarja ; Kuronen, Mervi ; Alakurtti, Kirsi ; Tegelberg, Saara ; Hakala, Paula ; Aalto, Antti ; Huopaniemi, Laura ; Aula, Nina ; Michellucci, Roberto ; Eriksson, Kai ; Lehesjoki, Anna-Elina
Journal title:European journal of human genetics : EJHG, 2007-02, Vol.15 (2), p.185-193
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Intrinsic and extrinsic mechanisms alter neural cell fate specification in EPM1 Epilepsy
Author / Creator:ero, Andrea ; Pravata, Maria Veronica ; Pipicelli, Fabrizia ; Soloperto, Alessandro ; Francesco Di Matteo ; Bekjarova, Zagorka ; Frenna, Elisa ; Canafoglia, Laura ; Ragona, Francesca ; Maccarrone, Giuseppina ; Mariano Gonzalez Pisfil ; Whal-Schott, Christian ; Cernilogar, Filippo M ; Rossella Di Giaimo ; Cappello, Silvia
Publisher:Cold Spring Harbor: Cold Spring Harbor Laboratory Press
Journal title:bioRxiv, 2024-11
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Cystatin B deficiency results in sustained histone H3 tail cleavage in postnatal mouse brain mediated by increased chromatin-associated cathepsin L activity
Author / Creator:Daura, Eduard ; Tegelberg, Saara ; Hakala, Paula ; Lehesjoki, Anna-Elina ; Joensuu, Tarja
Publisher:Switzerland: Frontiers Research Foundation
Journal title:Frontiers in molecular neuroscience, 2022-11, Vol.15, p.1069122-1069122
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Showing 1 to 20 of 78 results

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Cystatin B is essential for proliferation and interneuron migration in individuals with EPM1 epilepsy

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Early Microglial Activation Precedes Neuronal Loss in the Brain of the Cstb−/− Mouse Model of Progressive Myoclonus Epilepsy, EPM1

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The network sustaining action myoclonus: a MEG-EMG study in patients with EPM1

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3D Texture Analysis Reveals Imperceptible MRI Textural Alterations in the Thalamus and Putamen in Progressive Myoclonic Epilepsy Type 1, EPM1

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

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Cerebellar Involvement in Patients with Mild to Moderate Myoclonus Due to EPM1: Structural and Functional MRI Findings in Comparison with Healthy Controls and Ataxic Patients

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Severer Phenotype in Unverricht-Lundborg Disease (EPM1) Patients Compound Heterozygous for the Dodecamer Repeat Expansion and the c.202C>T Mutation in the CSTB Gene

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Mutations in the Gene Encoding Cystatin B in Progressive Myoclonus Epilepsy (EPM1)

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Loss of lysosomal association of cystatin B proteins representing progressive myoclonus epilepsy, EPM1, mutations

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Apoptosis caused by cathepsins does not require Bid signaling in an in vivo model of progressive myoclonus epilepsy (EPM1)

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Early Microglial Activation Precedes Neuronal Loss in the Brain of the Cstb^sup -/-^ Mouse Model of Progressive Myoclonus Epilepsy, EPM1

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Human stefin B normal and patho-physiological role: molecular and cellular aspects of amyloid-type aggregation of certain EPM1 mutants

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In depth behavioral phenotyping unravels complex motor disturbances in Cstb−/− mouse, a model for progressive myoclonus epilepsy type 1

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Intrinsic and extrinsic mechanisms alter neural cell fate specification in EPM1 Epilepsy

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Human stefin B: from its structure, folding, and aggregation to its function in health and disease

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The Roles of Cystatin B in the Brain and Pathophysiological Mechanisms of Progressive Myoclonic Epilepsy Type 1

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Loss of lysosomal association of cystatin B proteins representing progressive myoclonus epilepsy, EPM1, mutations

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

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Intrinsic and extrinsic mechanisms alter neural cell fate specification in EPM1 Epilepsy

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Cystatin B deficiency results in sustained histone H3 tail cleavage in postnatal mouse brain mediated by increased chromatin-associated cathepsin L activity

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