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Items: 1 to 20 of 788

1.
Perceptual and Acoustic Analysis of Speech in Spinocerebellar ataxia Type 1
Teije van Prooije, Simone Knuijt, Judith Oostveen, Kirsten Kapteijns, Adam P. Vogel, Bart van de Warrenburg
Cerebellum. 2024; 23(1): 112–120. Published online 2023 Jan 12. doi: 10.1007/s12311-023-01513-9
PMCID:
PMC10864471
ArticlePDF–1.6M
2.
Increased intrinsic membrane excitability is associated with hypertrophic olivary degeneration in spinocerebellar ataxia type 1
Logan M. Morrison, Haoran Huang, Hillary P. Handler, Min Fu, David D. Bushart, Samuel S. Pappas, Harry T. Orr, Vikram G. Shakkottai
Version 1. bioRxiv. Preprint. 2023 Oct 23. doi: 10.1101/2023.10.23.563657
PMCID:
PMC10634770
ArticlePDF–1.9M
3.
Altered calcium signaling in Bergmann glia contributes to spinocerebellar ataxia type-1 in a mouse model of SCA1
Carmen Nanclares, Jose Antonio Noriega-Prieto, Francisco E. Labrada-Moncada, Marija Cvetanovic, Alfonso Araque, Paulo Kofuji
Neurobiol Dis. Author manuscript; available in PMC 2023 Nov 4.
Published in final edited form as: Neurobiol Dis. 2023 Oct 15; 187: 106318. Published online 2023 Oct 5. doi: 10.1016/j.nbd.2023.106318
PMCID:
PMC10624966
ArticlePDF–2.1M
4.
On the identification of potential novel therapeutic targets for spinocerebellar ataxia type 1 (SCA1) neurodegenerative disease using EvoPPI3
André Sousa, Sara Rocha, Jorge Vieira, Miguel Reboiro-Jato, Hugo López-Fernández, Cristina P. Vieira
J Integr Bioinform. 2023 Jun; 20(2): 20220056. Published online 2023 Feb 28. doi: 10.1515/jib-2022-0056
PMCID:
PMC10561075
ArticlePDF–1.2M
5.
The potential value of disease-modifying therapy in patients with spinocerebellar ataxia type 1: an early health economic modeling study
Teije van Prooije, Sanne Ruigrok, Niels van den Berkmortel, Roderick P. P. W. M. Maas, Stan Wijn, Willeke M. C. van Roon-Mom, Bart van de Warrenburg, Janneke P. C. Grutters
J Neurol. 2023; 270(8): 3788–3798. Published online 2023 Apr 19. doi: 10.1007/s00415-023-11704-3
Correction in:
J Neurol. 2023; 270(8): 3799.
PMCID:
PMC10344992
ArticlePDF–1.0M
6.
Therapeutic Strategies for Spinocerebellar Ataxia Type 1
Laurie M. C. Kerkhof, Bart P. C. van de Warrenburg, Willeke M. C. van Roon-Mom, Ronald A. M. Buijsen
Biomolecules. 2023 May; 13(5): 788. Published online 2023 May 2. doi: 10.3390/biom13050788
PMCID:
PMC10216181
ArticlePDF–2.5M
7.
Electrophysiological and neuropsychological assessment of cognition in spinocerebellar ataxia type 1 patients: a pilot study
Elena Contaldi, Mariachiara Sensi, Fabiana Colucci, Jay Guido Capone, Arianna Braccia, Mattia Roberto Nocilla, Enrica Diozzi, Eleonora Contini, Anna Chiara Pelizzari, Valeria Tugnoli
Neurol Sci. 2023; 44(5): 1597–1606. Published online 2023 Jan 14. doi: 10.1007/s10072-022-06597-5
PMCID:
PMC10102071
ArticlePDF–898K
8.
Disruption of the ATXN1-CIC complex reveals the role of additional nuclear ATXN1 interactors in spinocerebellar ataxia type 1
Stephanie L. Coffin, Mark A. Durham, Larissa Nitschke, Eder Xhako, Amanda M. Brown, Jean-Pierre Revelli, Esmeralda Villavicencio Gonzalez, Tao Lin, Hillary P. Handler, Yanwan Dai, Alexander J. Trostle, Ying-Wooi Wan, Zhandong Liu, Roy V. Sillitoe, Harry T. Orr, Huda Y. Zoghbi
Neuron. Author manuscript; available in PMC 2023 Feb 25.
Published in final edited form as: Neuron. 2023 Feb 15; 111(4): 481–492.e8. Published online 2022 Dec 27. doi: 10.1016/j.neuron.2022.11.016
Correction in:
Neuron. 2023 Mar 15; 111(6): 915.
PMCID:
PMC9957872
ArticlePDF–1.7M
9.
Single nuclei RNA sequencing investigation of the Purkinje cell and glial changes in the cerebellum of transgenic Spinocerebellar ataxia type 1 mice
Ella Borgenheimer, Katherine Hamel, Carrie Sheeler, Francisco Labrada Moncada, Kaelin Sbrocco, Ying Zhang, Marija Cvetanovic
Front Cell Neurosci. 2022; 16: 998408. Published online 2022 Nov 15. doi: 10.3389/fncel.2022.998408
PMCID:
PMC9706545
ArticlePDF–3.1M
10.
Spatial and Temporal Diversity of Astrocyte Phenotypes in Spinocerebellar Ataxia Type 1 Mice
Juao-Guilherme Rosa, Katherine Hamel, Carrie Sheeler, Ella Borgenheimer, Stephen Gilliat, Alyssa Soles, Ferris J. Ghannoum, Kaelin Sbrocco, Hillary P. Handler, Orion Rainwater, Ryan Kang, Marija Cvetanovic
Cells. 2022 Oct; 11(20): 3323. Published online 2022 Oct 21. doi: 10.3390/cells11203323
PMCID:
PMC9599982
ArticlePDF–4.1M
11.
Identification of the ataxin-1 interaction network and its impact on spinocerebellar ataxia type 1
Jiu-Ming Chen, Shi-Kai Chen, Pei-Pei Jin, Shun-Chang Sun
Hum Genomics. 2022; 16: 29. Published online 2022 Jul 29. doi: 10.1186/s40246-022-00404-0
PMCID:
PMC9335979
ArticlePDF–2.1M
12.
Levels of Neurofilament Light at the Preataxic and Ataxic Stages of Spinocerebellar Ataxia Type 1
Carlo Wilke, David Mengel, Ludger Schöls, Holger Hengel, Maria Rakowicz, Thomas Klockgether, Alexandra Durr, Alessandro Filla, Bela Melegh, Rebecca Schüle, Kathrin Reetz, Heike Jacobi, Matthis Synofzik
Neurology. 2022 May 17; 98(20): e1985–e1996. doi: 10.1212/WNL.0000000000200257
PMCID:
PMC9162044
ArticlePDF–861K
13.
Detection Methods and Status of CAT Interruption of ATXN1 in Korean Patients With Spinocerebellar Ataxia Type 1
Ja-Hyun Jang, Sun Joo Yoon, Sun-Kyung Kim, Jin Whan Cho, Jong-Won Kim
Ann Lab Med. 2022 Mar 1; 42(2): 274–277. Published online 2022 Mar 1. doi: 10.3343/alm.2022.42.2.274
PMCID:
PMC8548249
ArticlePDF–613K
14.
Post-symptomatic Delivery of Brain Derived Neurotrophic Factor (BDNF) Ameliorates Spinocerebellar Ataxia Type 1 (SCA1) Pathogenesis
Carrie Sheeler, Juao-Guilherme Rosa, Ella Borgenheimer, Aaron Mellesmoen, Orion Rainwater, Marija Cvetanovic
Cerebellum. Author manuscript; available in PMC 2021 Jun 22.
Published in final edited form as: Cerebellum. 2021 Jun; 20(3): 420–429. Published online 2021 Jan 4. doi: 10.1007/s12311-020-01226-3
PMCID:
PMC8217121
ArticlePDF–1.4M
15.
Dual targeting of brain region‐specific kinases potentiates neurological rescue in Spinocerebellar ataxia type 1
Won‐Seok Lee, Laura Lavery, Maxime W C Rousseaux, Eric B Rutledge, Youjin Jang, Ying‐Wooi Wan, Sih‐Rong Wu, Wonho Kim, Ismael Al‐Ramahi, Smruti Rath, Carolyn J Adamski, Vitaliy V Bondar, Ambika Tewari, Shirin Soleimani, Samantha Mota, Hari K Yalamanchili, Harry T Orr, Zhandong Liu, Juan Botas, Huda Y Zoghbi
EMBO J. 2021 Apr 1; 40(7): e106106. Published online 2021 Mar 11. doi: 10.15252/embj.2020106106
PMCID:
PMC8013850
ArticlePDF–11M
16.
Brainstem and striatal volume changes are detectable in under 1 year and predict motor decline in spinocerebellar ataxia type 1
Timothy R Koscik, Lauren Sloat, Ellen van der Plas, James M Joers, Dinesh K Deelchand, Christophe Lenglet, Gülin Öz, Peggy C Nopoulos
Brain Commun. 2020; 2(2): fcaa184. Published online 2020 Dec 15. doi: 10.1093/braincomms/fcaa184
PMCID:
PMC7772094
ArticlePDF–943K
17.
Genomic Portrait of a Sporadic Amyotrophic Lateral Sclerosis Case in a Large Spinocerebellar Ataxia Type 1 Family
Giovanna Morello, Giulia Gentile, Rossella Spataro, Antonio Gianmaria Spampinato, Maria Guarnaccia, Salvatore Salomone, Vincenzo La Bella, Francesca Luisa Conforti, Sebastiano Cavallaro
J Pers Med. 2020 Dec; 10(4): 262. Published online 2020 Dec 2. doi: 10.3390/jpm10040262
PMCID:
PMC7712010
ArticlePDF–1.2M
18.
Altered Capicua expression drives regional Purkinje neuron vulnerability through ion channel gene dysregulation in spinocerebellar ataxia type 1
Ravi Chopra, David D Bushart, John P Cooper, Dhananjay Yellajoshyula, Logan M Morrison, Haoran Huang, Hillary P Handler, Luke J Man, Warunee Dansithong, Daniel R Scoles, Stefan M Pulst, Harry T Orr, Vikram G Shakkottai
Hum Mol Genet. 2020 Oct 1; 29(19): 3249–3265. Published online 2020 Sep 23. doi: 10.1093/hmg/ddaa212
PMCID:
PMC7689299
ArticlePDF–1.9M
19.
Pathogenic mechanisms underlying spinocerebellar ataxia type 1
Leon Tejwani, Janghoo Lim
Cell Mol Life Sci. Author manuscript; available in PMC 2021 Oct 1.
Published in final edited form as: Cell Mol Life Sci. 2020 Oct; 77(20): 4015–4029. Published online 2020 Apr 18. doi: 10.1007/s00018-020-03520-z
PMCID:
PMC7541529
ArticlePDF–918K
20.
Patterns of CAG repeat instability in the central nervous system and periphery in Huntington’s disease and in spinocerebellar ataxia type 1
Ricardo Mouro Pinto, Larissa Arning, James V Giordano, Pedram Razghandi, Marissa A Andrew, Tammy Gillis, Kevin Correia, Jayalakshmi S Mysore, Debora-M Grote Urtubey, Constanze R Parwez, Sarah M von Hein, H Brent Clark, Huu Phuc Nguyen, Eckart Förster, Allison Beller, Suman Jayadaev, C Dirk Keene, Thomas D Bird, Diane Lucente, Jean-Paul Vonsattel, Harry Orr, Carsten Saft, Elisabeth Petrasch-Parwez, Vanessa C Wheeler
Hum Mol Genet. 2020 Aug 29; 29(15): 2551–2567. Published online 2020 Jul 7. doi: 10.1093/hmg/ddaa139
PMCID:
PMC7471505
ArticlePDF–1.7M

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