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A Novel SCA3 Knock-in Mouse Model Mimics the Human SCA3 Disease Phenotype Including Neuropathological, Behavioral, and Transcriptional Abnormalities Especially in Oligodendrocytes
Author / Creator:Haas, Eva ; Incebacak, Rana D. ; Hentrich, Thomas ; Huridou, Chrisovalantou ; Schmidt, Thorsten ; Casadei, Nicolas ; Maringer, Yacine ; Bahl, Carola ; Zimmermann, Frank ; Mills, James D. ; Aronica, Eleonora ; Riess, Olaf ; Schulze-Hentrich, Julia M. ; Hübener-Schmid, Jeannette
Publisher:New York: Springer US
Journal title:Molecular neurobiology, 2022-01, Vol.59 (1), p.495-522
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Evaluation of Antisense Oligonucleotides Targeting ATXN3 in SCA3 Mouse Models
Author / Creator:Moore, Lauren R. ; Rajpal, Gautam ; Dillingham, Ian T. ; Qutob, Maya ; Blumenstein, Kate G. ; Gattis, Danielle ; Hung, Gene ; Kordasiewicz, Holly B. ; Paulson, Henry L. ; McLoughlin, Hayley S.
Publisher:United States: Elsevier Inc
Journal title:Molecular therapy. Nucleic acids, 2017-06, Vol.7 (C), p.200-210
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Deficiency in classical nonhomologous end-joining–mediated repair of transcribed genes is linked to SCA3 pathogenesis
Author / Creator:Chakraborty, Anirban ; Tapryal, Nisha ; Venkova, Tatiana ; Mitra, Joy ; Vasquez, Velmarini ; Sarke, Altaf H. ; Duarte-Silva, Sara ; Huai, Weihan ; Ashizawa, Tetsuo ; Ghosh, Gourisankar ; Macield, Patricia ; Sarkar, Partha S. ; Hegde, Muralidhar L. ; Cheni, Xu ; Hazra, Tapas K.
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2020-04, Vol.117 (14), p.8154-8165
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The cerebellar cognitive affective syndrome scale reveals early neuropsychological deficits in SCA3 patients
Author / Creator:Maas, Roderick P. P. W. M. ; Killaars, Sven ; van de Warrenburg, Bart P. C. ; Schutter, Dennis J. L. G.
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Journal of neurology, 2021-09, Vol.268 (9), p.3456-3466
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Neurodegenerative phosphoprotein signaling landscape in models of SCA3
Author / Creator:Sowa, Anna S. ; Popova, Taissia G. ; Harmuth, Tina ; Weber, Jonasz J. ; Pereira Sena, Priscila ; Schmidt, Jana ; Hübener-Schmid, Jeannette ; Schmidt, Thorsten
Publisher:England: BioMed Central Ltd
Journal title:Molecular brain, 2021-03, Vol.14 (1), p.57-57, Article 57
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IL‐4/STAT6 axis observed to reverse proliferative defect in SCA3 patient‐derived neural progenitor cells
Author / Creator:Chen, Francis M. ; Li, Huixian ; Chung, Dittman Lai‐Shun ; Mak, Angel T. L. ; Leung, Fung Ping ; Chan, Ho Yin Edwin ; Wong, Wing Tak
Publisher:Australia: Wiley Subscription Services, Inc
Journal title:Clinical and experimental pharmacology & physiology, 2024-01, Vol.51 (1), p.30-39
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Volumetric MRI Changes in Spinocerebellar Ataxia (SCA3 and SCA10) Patients
Author / Creator:Arruda, Walter Oleschko ; Meira, Alex Tiburtino ; Ono, Sergio Eiji ; de Carvalho Neto, Arnolfo ; Betting, Luiz Eduardo Gomes Garcia ; Raskin, Salmo ; Camargo, Carlos Henrique F. ; Teive, Hélio Afonso Ghizoni
Publisher:New York: Springer US
Journal title:Cerebellum (London, England), 2020-08, Vol.19 (4), p.536-543
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The CCAS-scale in hereditary ataxias: helpful on the group level, particularly in SCA3, but limited in individual patients
Author / Creator:Thieme, Andreas ; Faber, Jennifer ; Sulzer, Patricia ; Reetz, Kathrin ; Dogan, Imis ; Barkhoff, Miriam ; Krahe, Janna ; Jacobi, Heike ; Aktories, Julia-Elisabeth ; Minnerop, Martina ; Elben, Saskia ; van der Veen, Raquel ; Müller, Johanna ; Batsikadze, Giorgi ; Konczak, Jürgen ; Synofzik, Matthis ; Roeske, Sandra ; Timmann, Dagmar
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Journal of neurology, 2022-08, Vol.269 (8), p.4363-4374
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The frequency of non-motor symptoms in SCA3 and their association with disease severity and lifestyle factors
Author / Creator:Hengel, Holger ; Martus, Peter ; Faber, Jennifer ; Giunit, Paola ; Garcia-Moreno, Hector ; Solanky, Nita ; Klockgether, Thomas ; Reetz, Kathrin ; van de Warrenburg, Bart P. ; Santana, Magda M. ; Silva, Patrick ; Cunha, Inês ; de Almeida, Luís Pereira ; Timmann, Dagmar ; Infante, Jon ; de Vries, Jeroen ; Lima, Manuela ; Pires, Paula ; Bushara, Khalaf ; Jacobi, Heike ; Onyike, Chiadi ; Schmahmann, Jeremy D. ; Hübener-Schmid, Jeannette ; Synofzik, Matthis ; Schöls, Ludger
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Journal of neurology, 2023-02, Vol.270 (2), p.944-952
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Silencing Mutant ATXN3 Expression Resolves Molecular Phenotypes in SCA3 Transgenic Mice
Author / Creator:Rodríguez-Lebrón, Edgardo ; Costa, Maria doCarmo ; Luna-Cancalon, Katiuska ; Peron, Therese M ; Fischer, Svetlana ; Boudreau, Ryan L ; Davidson, Beverly L ; Paulson, Henry L
Publisher:United States: Elsevier Inc
Journal title:Molecular therapy, 2013-10, Vol.21 (10), p.1909-1918
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SCA3: Neurological features, pathogenesis and animal models
Author / Creator:Riess, Olaf ; Rüb, Udo ; Pastore, Annalisa ; Bauer, Peter ; Schöls, Ludger
Publisher:New York: Springer-Verlag
Journal title:Cerebellum (London, England), 2008-06, Vol.7 (2), p.125-137
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Two Novel SNPs in ATXN3 3’ UTR May Decrease Age at Onset of SCA3/MJD in Chinese Patients
Author / Creator:Long, Zhe ; Chen, Zhao ; Wang, Chunrong ; Huang, Fengzhen ; Peng, Huirong ; Hou, Xuan ; Ding, Dongxue ; Ye, Wei ; Wang, Junling ; Pan, Qian ; Li, Jiada ; Xia, Kun ; Tang, Beisha ; Ashizawa, Tetsuo ; Jiang, Hong
Publisher:United States: Public Library of Science
Journal title:PloS one, 2015-02, Vol.10 (2), p.e0117488-e0117488
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White matter damage is related to ataxia severity in SCA3
Author / Creator:Kang, J.-S. ; Klein, J. C. ; Baudrexel, S. ; Deichmann, R. ; Nolte, D. ; Hilker, R.
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Journal of neurology, 2014-02, Vol.261 (2), p.291-299
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PolyQ-expanded ataxin-3 protein levels in peripheral blood mononuclear cells correlate with clinical parameters in SCA3: a pilot study
Author / Creator:Gonsior, Kathrin ; Kaucher, Gabriele Anna ; Pelz, Patrik ; Schumann, Dorothea ; Gansel, Melanie ; Kuhs, Sandra ; Klockgether, Thomas ; Forlani, Sylvie ; Durr, Alexandra ; Hauser, Stefan ; Rattay, Tim W. ; Synofzik, Matthis ; Hengel, Holger ; Schöls, Ludger ; Rieß, Olaf H. ; Hübener-Schmid, Jeannette
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Journal of neurology, 2021-04, Vol.268 (4), p.1304-1315
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A pilot study: handgrip as a predictor in the disease progression of SCA3
Author / Creator:Chiu, Chungmin ; Cheng, Wenling ; Lin, Yongshiou ; Lin, Tatsung ; Chang, Huiju ; Chang, Yujun ; Lee, Chiaju ; Chang, Henhong ; Liu, Chinsan
Publisher:London: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2023-10, Vol.18 (1), p.1-317, Article 317
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Inactivation of PNKP by Mutant ATXN3 Triggers Apoptosis by Activating the DNA Damage-Response Pathway in SCA3
Author / Creator:Gao, Rui ; Liu, Yongping ; Silva-Fernandes, Anabela ; Fang, Xiang ; Paulucci-Holthauzen, Adriana ; Chatterjee, Arpita ; Zhang, Hang L. ; Matsuura, Tohru ; Choudhary, Sanjeev ; Ashizawa, Tetsuo ; Koeppen, Arnulf H. ; Maciel, Patricia ; Hazra, Tapas K. ; Sarkar, Partha S.
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2015-01, Vol.11 (1), p.e1004834
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MR Imaging of SCA3/MJD
Author / Creator:Wan, Na ; Chen, Zhao ; Wan, Linlin ; Tang, Beisha ; Jiang, Hong
Publisher:Lausanne: Frontiers Research Foundation
Journal title:Frontiers in neuroscience, 2020-08, Vol.14, p.749-749
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Brain structural abnormalities in the preclinical stage of Machado–Joseph disease/spinocerebellar ataxia type 3 (MJD/SCA3): evaluation by MRI morphometry, diffusion tensor imaging and neurite orientat...
Author / Creator:Li, Mengcheng ; Chen, Xinyuan ; Xu, Hao-Ling ; Huang, Ziqiang ; Chen, Naping ; Tu, Yuqing ; Gan, Shirui ; Hu, Jianping
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Journal of neurology, 2022-06, Vol.269 (6), p.2989-2998
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The longitudinal progression of MRI changes in pre-ataxic carriers of SCA3/MJD
Author / Creator:de Oliveira, Camila Maria ; Leotti, Vanessa Bielefeldt ; Polita, Sandra ; Anes, Mauricio ; Cappelli, Amanda Henz ; Rocha, Anastacia Guimarães ; Ecco, Gabriela ; Bolzan, Gabriela ; Kersting, Nathalia ; Duarte, Juliana Avila ; Saraiva-Pereira, Maria-Luiza ; Junior, Marcondes Cavalcante França ; Rezende, Thiago Junqueira Ribeiro ; Jardim, Laura Bannach
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Journal of neurology, 2023-09, Vol.270 (9), p.4276-4287
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Yemenite-Jewish families with Machado–Joseph disease (MJD/SCA3) share a recent common ancestor
Author / Creator:Sharony, Reuven ; Martins, Sandra ; Costa, Inês P. D. ; Zaltzman, Roy ; Amorim, António ; Sequeiros, Jorge ; Gordon, Carlos R.
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2019-11, Vol.27 (11), p.1731-1737
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A Novel SCA3 Knock-in Mouse Model Mimics the Human SCA3 Disease Phenotype Including Neuropathological, Behavioral, and Transcriptional Abnormalities Especially in Oligodendrocytes

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Evaluation of Antisense Oligonucleotides Targeting ATXN3 in SCA3 Mouse Models

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Deficiency in classical nonhomologous end-joining–mediated repair of transcribed genes is linked to SCA3 pathogenesis

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The cerebellar cognitive affective syndrome scale reveals early neuropsychological deficits in SCA3 patients

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Neurodegenerative phosphoprotein signaling landscape in models of SCA3

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IL‐4/STAT6 axis observed to reverse proliferative defect in SCA3 patient‐derived neural progenitor cells

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Volumetric MRI Changes in Spinocerebellar Ataxia (SCA3 and SCA10) Patients

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The CCAS-scale in hereditary ataxias: helpful on the group level, particularly in SCA3, but limited in individual patients

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The frequency of non-motor symptoms in SCA3 and their association with disease severity and lifestyle factors

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Silencing Mutant ATXN3 Expression Resolves Molecular Phenotypes in SCA3 Transgenic Mice

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SCA3: Neurological features, pathogenesis and animal models

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Two Novel SNPs in ATXN3 3’ UTR May Decrease Age at Onset of SCA3/MJD in Chinese Patients

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White matter damage is related to ataxia severity in SCA3

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PolyQ-expanded ataxin-3 protein levels in peripheral blood mononuclear cells correlate with clinical parameters in SCA3: a pilot study

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A pilot study: handgrip as a predictor in the disease progression of SCA3

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Inactivation of PNKP by Mutant ATXN3 Triggers Apoptosis by Activating the DNA Damage-Response Pathway in SCA3

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MR Imaging of SCA3/MJD

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Brain structural abnormalities in the preclinical stage of Machado–Joseph disease/spinocerebellar ataxia type 3 (MJD/SCA3): evaluation by MRI morphometry, diffusion tensor imaging and neurite orientat...

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The longitudinal progression of MRI changes in pre-ataxic carriers of SCA3/MJD

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Yemenite-Jewish families with Machado–Joseph disease (MJD/SCA3) share a recent common ancestor

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