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Year Number of Results
1995 2
1996 1
1997 3
1998 3
1999 5
2000 2
2001 2
2002 1
2003 2
2004 5
2005 2
2006 6
2007 11
2008 3
2009 5
2010 4
2011 14
2012 7
2013 10
2014 9
2015 5
2016 9
2017 7
2018 7
2019 7
2020 5
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2024 2

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133 results

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Page 1
Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS.
Elden AC, Kim HJ, Hart MP, Chen-Plotkin AS, Johnson BS, Fang X, Armakola M, Geser F, Greene R, Lu MM, Padmanabhan A, Clay-Falcone D, McCluskey L, Elman L, Juhr D, Gruber PJ, Rüb U, Auburger G, Trojanowski JQ, Lee VM, Van Deerlin VM, Bonini NM, Gitler AD. Elden AC, et al. Nature. 2010 Aug 26;466(7310):1069-75. doi: 10.1038/nature09320. Nature. 2010. PMID: 20740007 Free PMC article.
Here we show that ataxin 2 (ATXN2), a polyglutamine (polyQ) protein mutated in spinocerebellar ataxia type 2, is a potent modifier of TDP-43 toxicity in animal and cellular models. ...In spinal cord neurons of ALS patients, ATXN2 is abnormally localize …
Here we show that ataxin 2 (ATXN2), a polyglutamine (polyQ) protein mutated in spinocerebellar ataxia type 2, is …
Phenotypic and molecular diversities of spinocerebellar ataxia type 2 in Japan.
Inada R, Hirano M, Oka N, Samukawa M, Saigoh K, Suzuki H, Udaka F, Hashiguchi A, Takashima H, Hamada Y, Nakamura Y, Kusunoki S. Inada R, et al. J Neurol. 2021 Aug;268(8):2933-2942. doi: 10.1007/s00415-021-10467-z. Epub 2021 Feb 24. J Neurol. 2021. PMID: 33625581
BACKGROUND: We intended to clarify the phenotypic and molecular diversities of spinocerebellar ataxia type 2 (SCA2) in Japan. METHODS: DNA was extracted from the peripheral blood of 436 patients, including 126 patients with chronic neuropathy, 108 with …
BACKGROUND: We intended to clarify the phenotypic and molecular diversities of spinocerebellar ataxia type 2 (SC …
Erythropoietin in Spinocerebellar Ataxia Type 2: Feasibility and Proof-of-Principle Issues from a Randomized Controlled Study.
Rodriguez-Labrada R, Ortega-Sanchez R, Hernández Casaña P, Santos Morales O, Padrón-Estupiñan MDC, Batista-Nuñez M, Jiménez Rodríguez D, Canales-Ochoa N, Peña Acosta A, Medrano Montero J, Labrada Aguilera PE, Estupiñán Rodriguez A, Vazquez-Mojena Y, Almaguer Gotay D, Aymed-García J, García-García I, Torres Vega R, Viada González C, Valenzuela Silva CM, Silva Ricardo Y, Columbié Ximelis J, Tribin Rivero K, Valle Cabrera R, García-Rodriguez JC, Crombet Ramos T, Amaro-González D, Rodriguez-Obaya T, Velázquez-Pérez L. Rodriguez-Labrada R, et al. Mov Disord. 2022 Jul;37(7):1516-1525. doi: 10.1002/mds.29045. Epub 2022 May 23. Mov Disord. 2022. PMID: 35607776 Clinical Trial.
BACKGROUND: Several pieces of evidence have shown the neurotrophic effect of erythropoietin (EPO) and its introduction in the therapeutic practice of neurological diseases. However, its usefulness in the treatment of spinocerebellar ataxia type 2 (SCA2 …
BACKGROUND: Several pieces of evidence have shown the neurotrophic effect of erythropoietin (EPO) and its introduction in the therapeutic pr …
Founder Effects of Spinocerebellar Ataxias in the American Continents and the Caribbean.
Rodríguez-Labrada R, Martins AC, Magaña JJ, Vazquez-Mojena Y, Medrano-Montero J, Fernandez-Ruíz J, Cisneros B, Teive H, McFarland KN, Saraiva-Pereira ML, Cerecedo-Zapata CM, Gomez CM, Ashizawa T, Velázquez-Pérez L, Jardim LB; PanAmerican Hereditary Ataxia Network. Rodríguez-Labrada R, et al. Cerebellum. 2020 Jun;19(3):446-458. doi: 10.1007/s12311-020-01109-7. Cerebellum. 2020. PMID: 32086717 Review.
Spinocerebellar ataxia type 2 has multiple ancestral origins.
Sena LS, Furtado GV, Pedroso JL, Barsottini O, Cornejo-Olivas M, Nóbrega PR, Braga Neto P, Soares DMB, Vargas FR, Godeiro C, Medeiros PFV, Camejo C, Toralles MBP, Fagundes NJR, Jardim LB, Saraiva-Pereira ML; Rede Neurogenetica. Sena LS, et al. Parkinsonism Relat Disord. 2024 Mar;120:105985. doi: 10.1016/j.parkreldis.2023.105985. Epub 2023 Dec 31. Parkinsonism Relat Disord. 2024. PMID: 38181536
INTRODUCTION: Spinocerebellar ataxia type 2 (SCA2) is a dominant neurodegenerative disorder due to expansions of a CAG repeat tract (CAGexp) at the ATXN2 gene. ...
INTRODUCTION: Spinocerebellar ataxia type 2 (SCA2) is a dominant neurodegenerative disorder due to expansions of …
Neurorehabilitation therapy in spinocerebellar ataxia type 2: A 24-week, rater-blinded, randomized, controlled trial.
Rodríguez-Díaz JC, Velázquez-Pérez L, Rodríguez Labrada R, Aguilera Rodríguez R, Laffita Pérez D, Canales Ochoa N, Medrano Montero J, Estupiñán Rodríguez A, Osorio Borjas M, Góngora Marrero M, Reynaldo Cejas L, González Zaldivar Y, Almaguer Gotay D. Rodríguez-Díaz JC, et al. Mov Disord. 2018 Sep;33(9):1481-1487. doi: 10.1002/mds.27437. Epub 2018 Aug 22. Mov Disord. 2018. PMID: 30132999 Clinical Trial.
OBJECTIVE: The objective of this study was to assess the efficacy of a 24-week neurorehabilitative treatment in spinocerebellar ataxia type 2 patients. METHODS: A total of 38 spinocerebellar ataxia type 2 patients were enrol …
OBJECTIVE: The objective of this study was to assess the efficacy of a 24-week neurorehabilitative treatment in spinocerebellar at
The progression rate of spinocerebellar ataxia type 2 changes with stage of disease.
Monte TL, Reckziegel EDR, Augustin MC, Locks-Coelho LD, Santos ASP, Furtado GV, de Mattos EP, Pedroso JL, Barsottini OP, Vargas FR, Saraiva-Pereira ML, Camey SA, Leotti VB, Jardim LB; Rede Neurogenética. Monte TL, et al. Orphanet J Rare Dis. 2018 Jan 25;13(1):20. doi: 10.1186/s13023-017-0725-y. Orphanet J Rare Dis. 2018. PMID: 29370806 Free PMC article.
BACKGROUND: Spinocerebellar ataxia type 2 (SCA2) affects several neurological structures, giving rise to multiple symptoms. ...
BACKGROUND: Spinocerebellar ataxia type 2 (SCA2) affects several neurological structures, giving rise to multipl …
Redox Imbalance Associates with Clinical Worsening in Spinocerebellar Ataxia Type 2.
Dennis AG, Almaguer-Mederos LE, Raúl RA, Roberto RL, Luis VP, Dany CA, Yanetza GZ, Yaimeé VM, Annelié ED, Arnoy PA, Reydenis TV. Dennis AG, et al. Oxid Med Cell Longev. 2021 Feb 19;2021:9875639. doi: 10.1155/2021/9875639. eCollection 2021. Oxid Med Cell Longev. 2021. PMID: 33688396 Free PMC article.
BACKGROUND: Spinocerebellar ataxia type 2 (SCA2) is a neurodegenerative disease presenting with redox imbalance. ...
BACKGROUND: Spinocerebellar ataxia type 2 (SCA2) is a neurodegenerative disease presenting with redox imbalance. …
Safety and efficacy of riluzole in spinocerebellar ataxia type 2 in France (ATRIL): a multicentre, randomised, double-blind, placebo-controlled trial.
Coarelli G, Heinzmann A, Ewenczyk C, Fischer C, Chupin M, Monin ML, Hurmic H, Calvas F, Calvas P, Goizet C, Thobois S, Anheim M, Nguyen K, Devos D, Verny C, Ricigliano VAG, Mangin JF, Brice A, Tezenas du Montcel S, Durr A. Coarelli G, et al. Lancet Neurol. 2022 Mar;21(3):225-233. doi: 10.1016/S1474-4422(21)00457-9. Epub 2022 Jan 18. Lancet Neurol. 2022. PMID: 35063116 Clinical Trial.
Participants were patients with spinocerebellar ataxia type 2 with an age at disease onset of up to 50 years and a scale for the assessment and rating of ataxia (SARA) score of at least 5 and up to 26. ...However, our findings provide data on progressi …
Participants were patients with spinocerebellar ataxia type 2 with an age at disease onset of up to 50 years and …
Spinocerebellar ataxia type 2: Measures of saccade changes improve power for clinical trials.
Rodríguez-Labrada R, Velázquez-Pérez L, Auburger G, Ziemann U, Canales-Ochoa N, Medrano-Montero J, Vázquez-Mojena Y, González-Zaldivar Y. Rodríguez-Labrada R, et al. Mov Disord. 2016 Apr;31(4):570-8. doi: 10.1002/mds.26532. Epub 2016 Feb 5. Mov Disord. 2016. PMID: 26846400
BACKGROUND: Saccadic eye movement abnormalities are common in patients with spinocerebellar ataxia type 2, but it is unclear how these alterations progress over time. The aim of this study was to assess the progression of saccade involvement in spin
BACKGROUND: Saccadic eye movement abnormalities are common in patients with spinocerebellar ataxia type 2, but i …
133 results