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Items: 1 to 20 of 1160

1.
Phenotypic and genetic aspects of hereditary ataxia in dogs
Kimberley Stee, Mario Van Poucke, Mark Lowrie, Luc Van Ham, Luc Peelman, Natasha Olby, Sofie F.M. Bhatti
J Vet Intern Med. 2023 Jul-Aug; 37(4): 1306–1322. Published online 2023 Jun 21. doi: 10.1111/jvim.16742
PMCID:
PMC10365067
ArticlePDF–3.7M
2.
Gene Suppression Therapies in Hereditary Cerebellar Ataxias: A Systematic Review of Animal Studies
Carolina Santos, Sofia Malheiro, Manuel Correia, Joana Damásio
Cells. 2023 Apr; 12(7): 1037. Published online 2023 Mar 29. doi: 10.3390/cells12071037
PMCID:
PMC10093402
ArticlePDF–696K
3.
The Classification of Autosomal Recessive Cerebellar Ataxias: a Consensus Statement from the Society for Research on the Cerebellum and Ataxias Task Force
Marie Beaudin, Antoni Matilla-Dueñas, Bing-Weng Soong, Jose Luiz Pedroso, Orlando G. Barsottini, Hiroshi Mitoma, Shoji Tsuji, Jeremy D. Schmahmann, Mario Manto, Guy A Rouleau, Christopher Klein, Nicolas Dupre
Cerebellum. 2019; 18(6): 1098–1125. Published online 2019 Jul 2. doi: 10.1007/s12311-019-01052-2
PMCID:
PMC6867988
ArticlePDF–1.5M
4.
A New Mouse Allele of Glutamate Receptor Delta 2 with Cerebellar Atrophy and Progressive Ataxia
Yuka Miyoshi, Yoshichika Yoshioka, Kinuko Suzuki, Taisuke Miyazaki, Minako Koura, Kazumasa Saigoh, Naoko Kajimura, Yoko Monobe, Susumu Kusunoki, Junichiro Matsuda, Masahiko Watanabe, Naoto Hayasaka
PLoS One. 2014; 9(9): e107867. Published online 2014 Sep 24. doi: 10.1371/journal.pone.0107867
PMCID:
PMC4176021
ArticlePDF–2.1M
5.
EMQN Best Practice Guidelines for molecular genetic testing of SCAs
Jorge Sequeiros, Joanne Martindale, Sara Seneca, following a EMQN Best Practice Meeting, 17–19 October 2007, Porto, Portugal, as a part of the EU Network of Excellence EuroGentest, and subsequent electronic group discussion in 2008. Endorsed by the EMQN board in 2009
Eur J Hum Genet. 2010 Nov; 18(11): 1173–1176. Published online 2010 Feb 24. doi: 10.1038/ejhg.2010.8
Correction in:
Eur J Hum Genet. 2010 Nov; 18(11): 1176–1177.
PMCID:
PMC2987475
ArticlePDF–179K
6.
Low leukocyte glutamate dehydrogenase activity does not correlate with a particular type of multiple system atrophy.
R C Duvoisin, W J Nicklas, V Ritchie, J Sage, S Chokroverty
J Neurol Neurosurg Psychiatry. 1988 Dec; 51(12): 1508–1511. doi: 10.1136/jnnp.51.12.1508
PMCID:
PMC1032765
SummaryPage BrowsePDF–665K
7.
Electrophysiological studies in familial spastic paraplegia.
J G McLeod, J A Morgan, C Reye
J Neurol Neurosurg Psychiatry. 1977 Jun; 40(6): 611–615. doi: 10.1136/jnnp.40.6.611
PMCID:
PMC492770
SummaryPage BrowsePDF–525K
8.
Mice Lacking Phosphatidylinositol Transfer Protein-α Exhibit Spinocerebellar Degeneration, Intestinal and Hepatic Steatosis, and Hypoglycemia
James G. Alb, Jr., Jorge D. Cortese, Scott E. Phillips, Roger L. Albin, Tim R. Nagy, Bruce A. Hamilton, Vytas A. Bankaitis
J Biol Chem. Author manuscript; available in PMC 2021 Jan 11.
Published in final edited form as: J Biol Chem. 2003 Aug 29; 278(35): 33501–33518. Published online 2003 Jun 4. doi: 10.1074/jbc.M303591200
PMCID:
PMC7798478
ArticlePDF–3.0M
9.
The deubiquitinase function of ataxin-3 and its role in the pathogenesis of Machado-Joseph disease and other diseases
Anastasiya Potapenko, Jennilee M. Davidson, Albert Lee, Angela S. Laird
Biochem J. 2024 Mar 20; 481(6): 461–480. Published online 2024 Mar 18. doi: 10.1042/BCJ20240017
PMCID:
PMC11088879
ArticlePDF–4.0M
10.
CAG repeat mosaicism is gene specific in spinocerebellar ataxias
Radhia Kacher, François-Xavier Lejeune, Isabelle David, Susana Boluda, Giulia Coarelli, Sabrina Leclere-Turbant, Anna Heinzmann, Cecilia Marelli, Perrine Charles, Cyril Goizet, Nisha Kabir, Rania Hilab, Ludmila Jornea, Julie Six, Marc Dommergues, Anne-Laure Fauret, Alexis Brice, Sandrine Humbert, Alexandra Durr
Am J Hum Genet. 2024 May 2; 111(5): 913–926. Published online 2024 Apr 15. doi: 10.1016/j.ajhg.2024.03.015
PMCID:
PMC11080609
ArticlePDF–4.6M
11.
AAV-Mediated CAG-Targeting Selectively Reduces Polyglutamine-Expanded Protein and Attenuates Disease Phenotypes in a Spinocerebellar Ataxia Mouse Model
Anna Niewiadomska-Cimicka, Lorraine Fievet, Magdalena Surdyka, Ewelina Jesion, Céline Keime, Elisabeth Singer, Aurélie Eisenmann, Zaneta Kalinowska-Poska, Hoa Huu Phuc Nguyen, Agnieszka Fiszer, Maciej Figiel, Yvon Trottier
Int J Mol Sci. 2024 Apr; 25(8): 4354. Published online 2024 Apr 15. doi: 10.3390/ijms25084354
PMCID:
PMC11050704
ArticlePDF–2.5M
12.
METTL17 is an Fe-S cluster checkpoint for mitochondrial translation
Tslil Ast, Yuzuru Itoh, Shayan Sadre, Jason G. McCoy, Gil Namkoong, Jordan C. Wengrod, Ivan Chicherin, Pallavi R. Joshi, Piotr Kamenski, Daniel L. M. Suess, Alexey Amunts, Vamsi K. Mootha
Mol Cell. Author manuscript; available in PMC 2024 Apr 26.
Published in final edited form as: Mol Cell. 2024 Jan 18; 84(2): 359–374.e8. Published online 2024 Jan 9. doi: 10.1016/j.molcel.2023.12.016
PMCID:
PMC11046306
ArticlePDF–2.9M
13.
Novel genotype–phenotype correlations, differential cerebellar allele-specific methylation, and a common origin of the (ATTTC)n insertion in spinocerebellar ataxia type 37
Marina Sanchez-Flores, Marc Corral-Juan, Esther Gasch-Navalón, Davide Cirillo, Ivelisse Sanchez, Antoni Matilla-Dueñas
Hum Genet. 2024; 143(3): 211–232. Published online 2024 Feb 23. doi: 10.1007/s00439-024-02644-7
PMCID:
PMC11043136
ArticlePDF–5.6M
14.
Frataxin deficiency shifts metabolism to promote reactive microglia via glucose catabolism
Francesca Sciarretta, Fabio Zaccaria, Andrea Ninni, Veronica Ceci, Riccardo Turchi, Savina Apolloni, Martina Milani, Ilaria Della Valle, Marta Tiberi, Valerio Chiurchiù, Nadia D’Ambrosi, Silvia Pedretti, Nico Mitro, Cinzia Volontè, Susanna Amadio, Katia Aquilano, Daniele Lettieri-Barbato
Life Sci Alliance. 2024 Jul; 7(7): e202402609. Published online 2024 Apr 17. doi: 10.26508/lsa.202402609
PMCID:
PMC11024345
ArticlePDF–3.5M
15.
Myoclonus and Dystonia as Recurrent Presenting Features in Patients with the SCA21-Associated TMEM240 p.Pro170Leu Variant
Ugo Sorrentino, Luigi M. Romito, Barbara Garavaglia, Mario Fichera, Isabel Colangelo, Holger Prokisch, Juliane Winkelmann, Jan Necpal, Robert Jech, Michael Zech
Tremor Other Hyperkinet Mov (N Y) 2024; 14: 16. Published online 2024 Apr 10. doi: 10.5334/tohm.858
PMCID:
PMC11012930
ArticlePDF–1.9M
16.
Spinocerebellar Ataxia Type 3 Pathophysiology—Implications for Translational Research and Clinical Studies
Fabian Stahl, Bernd O. Evert, Xinyu Han, Peter Breuer, Ullrich Wüllner
Int J Mol Sci. 2024 Apr; 25(7): 3984. Published online 2024 Apr 3. doi: 10.3390/ijms25073984
PMCID:
PMC11012515
ArticlePDF–1.9M
17.
Dynamic molecular network analysis of iPSC-Purkinje cells differentiation delineates roles of ISG15 in SCA1 at the earliest stage
Hidenori Homma, Yuki Yoshioka, Kyota Fujita, Shinichi Shirai, Yuka Hama, Hajime Komano, Yuko Saito, Ichiro Yabe, Hideyuki Okano, Hidenao Sasaki, Hikari Tanaka, Hitoshi Okazawa
Commun Biol. 2024; 7: 413. Published online 2024 Apr 9. doi: 10.1038/s42003-024-06066-z
PMCID:
PMC11003991
ArticlePDF–5.9M
18.
The genetic basis of early-onset hereditary ataxia in Iran: results of a national registry of a heterogeneous population
Nejat Mahdieh, Morteza Heidari, Zahra Rezaei, Ali Reza Tavasoli, Sareh Hosseinpour, Maryam Rasulinejad, Ali Zare Dehnavi, Masoud Ghahvechi Akbari, Reza Shervin Badv, Elahe Vafaei, Ali Mohebbi, Pouria Mohammadi, Seyyed Mohammad Mahdi Hosseiny, Reza Azizimalamiri, Ali Nikkhah, Elham Pourbakhtyaran, Mohammad Rohani, Narges Khanbanha, Sedigheh Nikbakht, Mojtaba Movahedinia, Parviz Karimi, Homa Ghabeli, Seyed Ahmad Hosseini, Fatemeh Sadat Rashidi, Masoud Garshasbi, Morteza Rezvani Kashani, Noor M. Ghiasvand, Stephan Zuchner, Matthis Synofzik, Mahmoud Reza Ashrafi
Hum Genomics. 2024; 18: 35. Published online 2024 Apr 3. doi: 10.1186/s40246-024-00598-5
PMCID:
PMC10988936
ArticlePDF–2.4M
19.
The genetic landscape and phenotypic spectrum of GAA-FGF14 ataxia in China: a large cohort study
Riwei Ouyang, Linlin Wan, David Pellerin, Zhe Long, Jian Hu, Qian Jiang, Chunrong Wang, Linliu Peng, Huirong Peng, Lang He, Rong Qiu, Junling Wang, Jifeng Guo, Lu Shen, Bernard Brais, Matt C. Danzi, Stephan Zuchner, Beisha Tang, Zhao Chen, Hong Jiang
eBioMedicine. 2024 Apr; 102: 105077. Published online 2024 Mar 20. doi: 10.1016/j.ebiom.2024.105077
PMCID:
PMC10960143
ArticlePDF–2.5M
20.
Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design
Jussi Pekka Tolonen, Ricardo Parolin Schnekenberg, Simon McGowan, David Sims, Meriel McEntagart, Frances Elmslie, Debbie Shears, Helen Stewart, George K. Tofaris, Tabib Dabir, Patrick J. Morrison, Diana Johnson, Marios Hadjivassiliou, Sian Ellard, Charles Shaw‐Smith, Anna Znaczko, Abhijit Dixit, Mohnish Suri, Ajoy Sarkar, Rachel E. Harrison, Gabriela Jones, Henry Houlden, Giorgia Ceravolo, Joanna Jarvis, Jonathan Williams, Morag E. Shanks, Penny Clouston, Julia Rankin, Lubov Blumkin, Tally Lerman‐Sagie, Penina Ponger, Salmo Raskin, Katariina Granath, Johanna Uusimaa, Hector Conti, Emma McCann, Shelagh Joss, Alexander J.M. Blakes, Kay Metcalfe, Helen Kingston, Marta Bertoli, Rachel Kneen, Sally Ann Lynch, Inmaculada Martínez Albaladejo, Austen Peter Moore, Wendy D. Jones, Genomics England Research Consortium, Esther B.E. Becker, Andrea H. Németh
Mov Disord. 2024 Jan; 39(1): 141–151. Published online 2023 Nov 14. doi: 10.1002/mds.29651
PMCID:
PMC10952845
ArticlePDF–3.0M

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