Search the collection

32 results for CSTB+gene

Sort by:

Sort by

Limit results to:

20 per page

32 results for CSTB+gene

Export to excel

Export record to excel

File type to download

Beta version

Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 1
ArticlesPeer ReviewedFull Text
CSTB gene replacement improves neuroinflammation, neurodegeneration and ataxia in murine type 1 progressive myoclonus epilepsy
Author / Creator:Gumusgoz, Emrah ; Kasiri, Sahba ; Verma, Mayank ; Wu, Jun ; Villarreal Acha, Daniel ; Marriam, Ummay ; Fyffe-Maricich, Sharyl ; Lin, Amy ; Chen, Xin ; Gray, Steven J. ; Minassian, Berge A.
Publisher:London: Nature Publishing Group UK
Journal title:Gene therapy, 2024-05, Vol.31 (5-6), p.234-241
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 2
ArticlesPeer ReviewedFull Text
A novel c.116 - 117 del variant in Unverricht-Lundborg disease: first ULD report in large Chinese population and review of the pathogenetic variants in CSTB gene
Author / Creator:Miao, Pu ; Ding, Yao ; Cen, Zhidong ; Chen, Yulan ; Luo, Wei ; Zhang, Baorong ; Wu, Zhiying ; Ding, Meiping ; Wang, Shuang
Publisher:England: BioMed Central
Journal title:Acta epileptologica, 2025-05, Vol.7 (1), p.32
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 3
ArticlesPeer ReviewedFull Text
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
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 4
ArticlesPeer ReviewedFull Text
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
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 5
ArticlesPeer ReviewedFull Text
DNA deamination enables direct PCR amplification of the cystatin B (CSTB) gene-associated dodecamer repeat expansion in myoclonus epilepsy type Unverricht-Lundborg
Author / Creator:Weinhaeusel, Andreas ; Morris, Michael A. ; Antonarakis, Stylianos E. ; Haas, Oskar A.
Publisher:Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Journal title:Human mutation, 2003-11, Vol.22 (5), p.404-408
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 6
ArticlesPeer ReviewedFull Text
Correction of a Splicing Mutation Affecting an Unverricht-Lundborg Disease Patient by Antisense Therapy
Author / Creator:Matos, Liliana ; Duarte, Ana Joana ; Ribeiro, Diogo ; Chaves, João ; Amaral, Olga ; Alves, Sandra
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2018-09, Vol.9 (9), p.455
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 7
ArticlesPeer ReviewedFull Text
Insights into the Genetic Profile of Two Siblings Affected by Unverricht-Lundborg Disease Using Patient-Derived hiPSCs
Author / Creator:Lucchino, Valeria ; Scaramuzzino, Luana ; Scalise, Stefania ; Lo Conte, Michela ; Zannino, Clara ; Benedetto, Giorgia Lucia ; Aguglia, Umberto ; Ferlazzo, Edoardo ; Cuda, Giovanni ; Parrotta, Elvira Immacolata
Publisher:Switzerland: MDPI AG
Journal title:Cells (Basel, Switzerland), 2022-11, Vol.11 (21), p.3491
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 8
ArticlesFull Text
Researchers from University of Texas Southwestern Medical Center Report Recent Findings in Myoclonus (Cstb Gene Replacement Improves Neuroinflammation, Neurodegeneration and Ataxia In Murine Type 1 Pr...
Publisher:NewsRX LLC
Journal title:Obesity, fitness, & wellness week, 2024-01, p.358
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 9
ArticlesFull Text
Researchers from Chongqing Medical University Report on Findings in Transcription Factors (Transcriptional Activation of Cstb Gene Expression By Transcription Factor Sp3)
Publisher:NewsRX LLC
Journal title:Obesity, fitness, & wellness week, 2023-04, p.4327
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 10
ArticlesPeer ReviewedFull Text
Characterization of PTZ-Induced Seizure Susceptibility in a Down Syndrome Mouse Model That Overexpresses CSTB
Author / Creator:Brault, Véronique ; Martin, Benoît ; Costet, Nathalie ; Bizot, Jean-Charles ; Hérault, Yann
Publisher:United States: Public Library of Science
Journal title:PloS one, 2011-11, Vol.6 (11), p.e27845
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 11
ArticlesPeer ReviewedFull Text
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
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 12
ArticlesFull Text
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
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 13
ArticlesPeer ReviewedFull Text
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
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 14
ArticlesPeer ReviewedFull Text
The epilepsy, the protease inhibitor and the dodecamer: progressive myoclonus epilepsy, cystatin b and a 12-mer repeat expansion
Author / Creator:Lalioti, M.D. ; Antonarakis, S.E. ; Scott, H.S.
Publisher:Basel, Switzerland: S. Karger AG
Journal title:Cytogenetic and Genome Research, 2003-01, Vol.100 (1-4), p.213-223
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 15
ArticlesPeer ReviewedFull Text
CSTB gene replacement improves neuroinflammation, neurodegeneration and ataxia in murine type 1 progressive myoclonus epilepsy
Author / Creator:Gumusgoz, Emrah ; Kasiri, Sahba ; Verma, Mayank ; Wu, Jun ; Villarreal Acha, Daniel ; Marriam, Ummay ; Fyffe-Maricich, Sharyl ; Lin, Amy ; Chen, Xin ; Gray, Steven J. ; Minassian, Berge A.
Journal title:Gene therapy, 2024-05, Vol.31 (5-6), p.234-241
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 16
ArticlesPeer ReviewedFull Text
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
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 17
ArticlesPeer ReviewedFull Text
Biomarker cystatin B expression correlates with pathogenesis in cervical cancer
Author / Creator:Ye, Danjuan ; Duan, Xiaoling ; Guan, Bin ; Yuan, Jia ; Zhu, Yan ; Shi, Jimin ; Lu, Qi ; Xu, Guoxiong
Publisher:London, England: SAGE Publications
Journal title:Journal of international medical research, 2024-03, Vol.52 (3), p.3000605241233959-3000605241233959
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 18
ArticlesPeer ReviewedFull Text
Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy
Author / Creator:Lalioti, Maria D. ; Scott, Hamish S. ; Buresi, Catherine ; Rossier, Colette ; Bottani, Armand ; Morris, Michael A. ; Malafosse, Alain ; Antonarakis, Stylianos E.
Publisher:London: Nature Publishing Group UK
Journal title:Nature (London), 1997-04, Vol.386 (6627), p.847-851
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 19
ArticlesPeer ReviewedFull Text
Gene Expression Alterations in the Cerebellum and Granule Neurons of Cstb−/− Mouse Are Associated with Early Synaptic Changes and Inflammation
Author / Creator: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
Publisher:United States: Public Library of Science
Journal title:PloS one, 2014-02, Vol.9 (2), p.e89321
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 20
ArticlesPeer ReviewedFull Text
Quantitative Changes in the Mitochondrial Proteome of Cerebellar Synaptosomes From Preclinical Cystatin B-Deficient Mice
Author / Creator:Gorski, Katarin ; Spoljaric, Albert ; Nyman, Tuula A. ; Kaila, Kai ; Battersby, Brendan J. ; Lehesjoki, Anna-Elina
Publisher:Lausanne: Frontiers Research Foundation
Journal title:Frontiers in molecular neuroscience, 2020-11, Vol.13, p.570640-570640
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.

Showing 1 to 20 of 32 results

Export record to excel

Export this record

Export record to excel

CSTB gene replacement improves neuroinflammation, neurodegeneration and ataxia in murine type 1 progressive myoclonus epilepsy

Export this record

Export record to excel

A novel c.116 - 117 del variant in Unverricht-Lundborg disease: first ULD report in large Chinese population and review of the pathogenetic variants in CSTB gene

Export this record

Export record to excel

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

Export this record

Export record to excel

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

Export this record

Export record to excel

DNA deamination enables direct PCR amplification of the cystatin B (CSTB) gene-associated dodecamer repeat expansion in myoclonus epilepsy type Unverricht-Lundborg

Export this record

Export record to excel

Correction of a Splicing Mutation Affecting an Unverricht-Lundborg Disease Patient by Antisense Therapy

Export this record

Export record to excel

Insights into the Genetic Profile of Two Siblings Affected by Unverricht-Lundborg Disease Using Patient-Derived hiPSCs

Export this record

Export record to excel

Researchers from University of Texas Southwestern Medical Center Report Recent Findings in Myoclonus (Cstb Gene Replacement Improves Neuroinflammation, Neurodegeneration and Ataxia In Murine Type 1 Pr...

Export this record

Export record to excel

Researchers from Chongqing Medical University Report on Findings in Transcription Factors (Transcriptional Activation of Cstb Gene Expression By Transcription Factor Sp3)

Export this record

Export record to excel

Characterization of PTZ-Induced Seizure Susceptibility in a Down Syndrome Mouse Model That Overexpresses CSTB

Export this record

Export record to excel

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

Export this record

Export record to excel

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

Export this record

Export record to excel

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

Export this record

Export record to excel

The epilepsy, the protease inhibitor and the dodecamer: progressive myoclonus epilepsy, cystatin b and a 12-mer repeat expansion

Export this record

Export record to excel

CSTB gene replacement improves neuroinflammation, neurodegeneration and ataxia in murine type 1 progressive myoclonus epilepsy

Export this record

Export record to excel

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

Export this record

Export record to excel

Biomarker cystatin B expression correlates with pathogenesis in cervical cancer

Export this record

Export record to excel

Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy

Export this record

Export record to excel

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

Export this record

Export record to excel

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

Refine your search