Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
Thomas P Zwaka, Marta Skowronska, Ronald Richman, Marion Dejose. Ronin overexpression induces cerebellar degeneration in a mouse model of ataxia. Disease models & mechanisms. vol 14. issue 6. 2021-07-08. PMID:34165550. |
spinocerebellar ataxias (scas) are a group of genetically heterogeneous inherited neurodegenerative disorders characterized by progressive ataxia and cerebellar degeneration. |
2021-07-08 |
2023-08-13 |
mouse |
Roderick P P W M Maas, Ivan Toni, Jonne Doorduin, Thomas Klockgether, Dennis J L G Schutter, Bart P C van de Warrenbur. Correction to: Cerebellar transcranial direct current stimulation in spinocerebellar ataxia type 3 (SCA3-tDCS): rationale and protocol of a randomized, double-blind, sham-controlled study. BMC neurology. vol 21. issue 1. 2021-07-03. PMID:34187386. |
correction to: cerebellar transcranial direct current stimulation in spinocerebellar ataxia type 3 (sca3-tdcs): rationale and protocol of a randomized, double-blind, sham-controlled study. |
2021-07-03 |
2023-08-13 |
Not clear |
Sally Rowland, Xiaofei Du, Christopher M Gome. Commentary to: "The Pathophysiology and Clinical Manifestations of Spinocerebellar Ataxia Type 6" by Rentiya et al., Cerebellum 2020;19(3):459-464). Cerebellum (London, England). vol 20. issue 3. 2021-06-22. PMID:33219436. |
commentary to: "the pathophysiology and clinical manifestations of spinocerebellar ataxia type 6" by rentiya et al., cerebellum 2020;19(3):459-464). |
2021-06-22 |
2023-08-13 |
Not clear |
Sara AlHilali, Nada H AlMadhi, Eman D AlBalaw. Ophthalmic Features of Spinocerebellar Ataxia Type 7: A Case Report. The American journal of case reports. vol 22. 2021-06-22. PMID:34148052. |
background spinocerebellar ataxia (sca) is an inherited progressive neurodegenerative disorder characterized by late-onset cerebellar and brainstem dysfunction. |
2021-06-22 |
2023-08-13 |
Not clear |
Taro Ishiguro, Yoshitaka Nagai, Kinya Ishikaw. Insight Into Spinocerebellar Ataxia Type 31 (SCA31) From Frontiers in neuroscience. vol 15. 2021-06-12. PMID:34113230. |
insight into spinocerebellar ataxia type 31 (sca31) from spinocerebellar ataxia type 31 (sca31) is a progressive neurodegenerative disease characterized by degeneration of purkinje cells in the cerebellum. |
2021-06-12 |
2023-08-13 |
Not clear |
Etsuko Shimobayashi, Josef P Kapfhamme. A New Mouse Model Related to SCA14 Carrying a Pseudosubstrate Domain Mutation in PKCγ Shows Perturbed Purkinje Cell Maturation and Ataxic Motor Behavior. The Journal of neuroscience : the official journal of the Society for Neuroscience. vol 41. issue 9. 2021-06-11. PMID:33478986. |
spinocerebellar ataxias (scas) are diseases characterized by cerebellar atrophy and loss of purkinje neurons caused by mutations in diverse genes. |
2021-06-11 |
2023-08-13 |
mouse |
R Palvadeau, Z E Kaya-Güleç, G Şimşir, A Vural, Ö Öztop-Çakmak, G Genç, M S Aygün, O Falay, A Nazlı Başak, S Erta. Cerebellar cognitive-affective syndrome preceding ataxia associated with complex extrapyramidal features in a Turkish SCA48 family. Neurogenetics. vol 21. issue 1. 2021-05-28. PMID:31741143. |
sca48 is a novel spinocerebellar ataxia (sca) originally and recently characterized by prominent cerebellar cognitive-affective syndrome (ccas) and late-onset ataxia caused by mutations on the stub1 gene. |
2021-05-28 |
2023-08-13 |
Not clear |
Fatima Zahra Bouzid, Maria Mansouri, Chaikhy Abdelaziz, Nisrine Louhab, Sablonniere Bernard, Isabelle Strubi-Vuillaume, Kenza Dafir, Nisrine Aboussai. Spinocerebellar ataxia Type 7: clinical and genetic study of a new Moroccan family (case report). The Pan African medical journal. vol 38. 2021-05-25. PMID:33995769. |
the cag repeat expansion in the ataxin-7 gene (atxn7) causes spinocerebellar ataxia type 7 - a mutation that results in the degeneration of the brain stem cells, retina and cerebellum. |
2021-05-25 |
2023-08-13 |
Not clear |
Marina P Hommersom, Ronald A M Buijsen, Willeke M C van Roon-Mom, Bart P C van de Warrenburg, Hans van Bokhove. Human Induced Pluripotent Stem Cell-Based Modelling of Spinocerebellar Ataxias. Stem cell reviews and reports. 2021-05-25. PMID:34031815. |
dominant spinocerebellar ataxias (scas) constitute a large group of phenotypically and genetically heterogeneous disorders that mainly present with dysfunction of the cerebellum as their main hallmark. |
2021-05-25 |
2023-08-13 |
human |
Claudia Gonzales-Sáenz, Carolina Cruz-Rodriguez, Keren Espinoza-Huertas, Diego Véliz-Otani, Victoria Marca, Olimpio Ortega, Karina Milla-Neyra, Jorge Alvarez-Tejada, Pilar Mazzetti, Mario Cornejo-Oliva. Distribution of the CAG Triplet Repeat in ATXN1, ATXN3, and CACNA1A Loci in Peruvian Population. Cerebellum (London, England). vol 19. issue 4. 2021-05-17. PMID:32285347. |
spinocerebellar ataxia subtypes 1, 3, and 6 (sca1, mjd/sca3, and sca6) are among the most prevalent autosomal dominant cerebellar ataxias worldwide, but their relative frequencies in peru are low. |
2021-05-17 |
2023-08-13 |
cat |
Hiroyuki Yasui, Yasunori Matsuzaki, Ayumu Konno, Hirokazu Hira. Global Knockdown of Retinoid-related Orphan Receptor α in Mature Purkinje Cells Reveals Aberrant Cerebellar Phenotypes of Spinocerebellar Ataxia. Neuroscience. vol 462. 2021-05-14. PMID:32278059. |
global knockdown of retinoid-related orphan receptor α in mature purkinje cells reveals aberrant cerebellar phenotypes of spinocerebellar ataxia. |
2021-05-14 |
2023-08-13 |
mouse |
Stephanie Suzanne de Oliveira Scott, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Marcondes Cavalcante França-Junior, Pedro Braga-Net. Natural history and epidemiology of the spinocerebellar ataxias: Insights from the first description to nowadays. Journal of the neurological sciences. vol 417. 2021-05-14. PMID:32791425. |
spinocerebellar ataxias (scas) are a heterogeneous group of autosomal dominant inherited diseases that share the degeneration of the cerebellum and its connections as their main feature. |
2021-05-14 |
2023-08-13 |
Not clear |
Meng-Ling Chen, Chih-Chun Lin, Liana S Rosenthal, Puneet Opal, Sheng-Han Ku. Rating scales and biomarkers for CAG-repeat spinocerebellar ataxias: Implications for therapy development. Journal of the neurological sciences. vol 424. 2021-05-14. PMID:33836316. |
spinocerebellar ataxias (scas) are a group of dominantly-inherited cerebellar ataxias, among which cag expansion-related scas are most common. |
2021-05-14 |
2023-08-13 |
Not clear |
Tomoyuki Ijiro, Atsushi Yaguchi, Ayaka Yokoyama, Yoshikazu Abe, Sumiyoshi Kiguch. Ameliorating effect of rovatirelin on the ataxia in rolling mouse Nagoya. European journal of pharmacology. vol 882. 2021-05-13. PMID:32534077. |
these results suggest that rovatirelin activates the cerebellum and other parts of the central nervous system to improve motor function in spinocerebellar ataxia (sca) model animals, and its action is more potent than that of taltirelin. |
2021-05-13 |
2023-08-13 |
mouse |
Frederike Cosima Oertel, Oliver Zeitz, Maria Rönnefarth, Charlotte Bereuter, Seyedamirhosein Motamedi, Hanna G Zimmermann, Joseph Kuchling, Anne Sophie Grosch, Sarah Doss, Andrew Browne, Friedemann Paul, Tanja Schmitz-Hübsch, Alexander U Brand. Functionally Relevant Maculopathy and Optic Atrophy in Spinocerebellar Ataxia Type 1. Movement disorders clinical practice. vol 7. issue 5. 2021-04-29. PMID:32626794. |
spinocerebellar ataxia type 1 (sca-atxn1) is an inherited progressive ataxia disorder characterized by an adult-onset cerebellar syndrome combined with nonataxia signs. |
2021-04-29 |
2023-08-13 |
Not clear |
Thomas Roux, Mathieu Barbier, Mélanie Papin, Claire-Sophie Davoine, Sabrina Sayah, Giulia Coarelli, Perrine Charles, Cecilia Marelli, Livia Parodi, Christine Tranchant, Cyril Goizet, Stephan Klebe, Ebba Lohmann, Lionel Van Maldergem, Christine van Broeckhoven, Marie Coutelier, Christelle Tesson, Giovanni Stevanin, Charles Duyckaerts, Alexis Brice, Alexandra Dur. Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment. Genetics in medicine : official journal of the American College of Medical Genetics. vol 22. issue 11. 2021-04-28. PMID:32713943. |
pathogenic variants in stub1 were initially described in autosomal recessive spinocerebellar ataxia type 16 and dominant cerebellar ataxia with cerebellar cognitive dysfunction (sca48). |
2021-04-28 |
2023-08-13 |
Not clear |
Maria do Carmo Costa, Maria Radzwion, Hayley S McLoughlin, Naila S Ashraf, Svetlana Fischer, Vikram G Shakkottai, Patrícia Maciel, Henry L Paulson, Gülin Ö. In Vivo Molecular Signatures of Cerebellar Pathology in Spinocerebellar Ataxia Type 3. Movement disorders : official journal of the Movement Disorder Society. vol 35. issue 10. 2021-04-27. PMID:32621646. |
in vivo molecular signatures of cerebellar pathology in spinocerebellar ataxia type 3. |
2021-04-27 |
2023-08-13 |
Not clear |
Luis Velázquez-Pérez, Roberto Rodriguez-Labrada, Yasmani González-Garcés, Eduardo Arrufat-Pie, Reidenis Torres-Vega, Jacqueline Medrano-Montero, Beatriz Ramirez-Bautista, Yaimeé Vazquez-Mojena, Georg Auburger, Fay Horak, Ulf Ziemann, Christopher M Gome. Prodromal Spinocerebellar Ataxia Type 2 Subjects Have Quantifiable Gait and Postural Sway Deficits. Movement disorders : official journal of the Movement Disorder Society. vol 36. issue 2. 2021-04-27. PMID:33107647. |
the search for valid preclinical biomarkers of cerebellar dysfunction is a key research goal for the upcoming era of early interventional approaches in spinocerebellar ataxias. |
2021-04-27 |
2023-08-13 |
human |
David D Bushart, Haoran Huang, Luke J Man, Logan M Morrison, Vikram G Shakkotta. A Chlorzoxazone-Baclofen Combination Improves Cerebellar Impairment in Spinocerebellar Ataxia Type 1. Movement disorders : official journal of the Movement Disorder Society. vol 36. issue 3. 2021-04-27. PMID:33151010. |
a chlorzoxazone-baclofen combination improves cerebellar impairment in spinocerebellar ataxia type 1. |
2021-04-27 |
2023-08-13 |
human |
David D Bushart, Haoran Huang, Luke J Man, Logan M Morrison, Vikram G Shakkotta. A Chlorzoxazone-Baclofen Combination Improves Cerebellar Impairment in Spinocerebellar Ataxia Type 1. Movement disorders : official journal of the Movement Disorder Society. vol 36. issue 3. 2021-04-27. PMID:33151010. |
a combination of central muscle relaxants, chlorzoxazone and baclofen (chlorzoxazone-baclofen), has been proposed for treatment of cerebellar symptoms in human spinocerebellar ataxia. |
2021-04-27 |
2023-08-13 |
human |