| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Jiaqi Li, Wenyi Xie, Jian-Min Chen, Chun-Zuan Xu, Ya-Li Huang, Sheng Chen, Chang-Yun Liu, Ying-Qian Lu, Zhang-Yu Zo. Clinical and functional characterization of a novel STUB1 mutation in a Chinese spinocerebellar ataxia 48 pedigree. Orphanet journal of rare diseases. vol 19. issue 1. 2024-12-21. PMID:39707479. |
spinocerebellar ataxias (scas) encompass a wide spectrum of inherited neurodegenerative diseases, primarily characterized by pathological changes in the cerebellum, spinal cord, and brainstem degeneration. |
2024-12-21 |
2024-12-24 |
Not clear |
| Chae Young Lim, Yujin Seo, Beomseok Sohn, Minjung Seong, Sung Tae Kim, Sungjun Hong, Jinyoung Youn, Eung Yeop Ki. The Inferior Cerebellar Peduncle Sign: A Novel Imaging Marker for Differentiating Multiple System Atrophy Cerebellar Type from Spinocerebellar Ataxia. AJNR. American journal of neuroradiology. 2024-12-14. PMID:39674591. |
the inferior cerebellar peduncle sign: a novel imaging marker for differentiating multiple system atrophy cerebellar type from spinocerebellar ataxia. |
2024-12-14 |
2024-12-21 |
Not clear |
| Joshua G Macopson-Jones, Maile Adams, Julien Philippe, Albert R La Spad. Increased nuclear import characterizes aberrant nucleocytoplasmic transport in neurons from patients with spinocerebellar ataxia type 7. Frontiers in molecular neuroscience. vol 17. 2024-12-09. PMID:39649105. |
spinocerebellar ataxia type 7 (sca7) is an inherited neurodegenerative disorder characterized by cerebellar and retinal degeneration. |
2024-12-09 |
2024-12-11 |
Not clear |
| Nabin Adhikari, Popular Pokhrel, Priyanka Kc, Navin Kumar Sah, Bhupendra Sha. Clinical diagnosis and management of spinocerebellar ataxia in a resource-constrained setting: a case report from Eastern Nepal. Annals of medicine and surgery (2012). vol 86. issue 12. 2024-12-09. PMID:39649858. |
spinocerebellar ataxias (sca) are a diverse group of neurodegenerative disorders with autosomal dominant inheritance, primarily affecting the cerebellum and its connections. |
2024-12-09 |
2024-12-12 |
Not clear |
| Yoshiharu Miura, Kenji Ishibash. Cerebellar type 1 metabotropic glutamate receptor availability decreases with disease progression in spinocerebellar ataxia type 6. Journal of the neurological sciences. vol 467. 2024-11-28. PMID:39608297. |
cerebellar type 1 metabotropic glutamate receptor availability decreases with disease progression in spinocerebellar ataxia type 6. |
2024-11-28 |
2024-12-01 |
Not clear |
| Yoshiharu Miura, Kenji Ishibash. Cerebellar type 1 metabotropic glutamate receptor availability decreases with disease progression in spinocerebellar ataxia type 6. Journal of the neurological sciences. vol 467. 2024-11-28. PMID:39608297. |
this study presents the longitudinal changes in cerebellar mglur1 availability after an interval of years in patients with spinocerebellar ataxia type 6 (sca6). |
2024-11-28 |
2024-12-01 |
Not clear |
| Gi Beom Lee, Se Min Park, Un Ju Jung, Sang Ryong Ki. The Potential of Mesenchymal Stem Cells in Treating Spinocerebellar Ataxia: Advances and Future Directions. Biomedicines. vol 12. issue 11. 2024-11-27. PMID:39595073. |
spinocerebellar ataxia (sca) is a heterogeneous disorder characterized by impaired balance and coordination caused by cerebellar dysfunction. |
2024-11-27 |
2024-11-29 |
Not clear |
| Rohin Manohar, Faye X Yang, Christopher D Stephen, Jeremy D Schmahmann, Nicole M Eklund, Anoopum S Gupt. At-home wearables and machine learning capture motor impairment and progression in adult ataxias. medRxiv : the preprint server for health sciences. 2024-11-22. PMID:39574866. |
a significant barrier to developing disease-modifying therapies for spinocerebellar ataxias (scas) and multiple system atrophy of the cerebellar type (msa-c) is the scarcity of tools to sensitively measure disease progression in clinical trials. |
2024-11-22 |
2024-11-24 |
Not clear |
| Sara Satolli, Salvatore Rossi, Elisa Vegezzi, David Pellerin, Maria Laura Manca, Melissa Barghigiani, Carla Battisti, Giusi Bilancieri, Giorgia Bruno, Elena Capacci, Carlo Casali, Roberto Ceravolo, Sirio Cocozza, Stefano Cotti Piccinelli, Chiara Criscuolo, Matt C Danzi, Rosa De Micco, Giuseppe De Michele, Marie-Josée Dicaire, Grazia Maria Igea Falcone, Roberto Fancellu, Yasmine Ferchichi, Camilla Ferrari, Alessandro Filla, Nicola Fini, Alessandra Govoni, Filomena Lo Vecchio, Alessandro Malandrini, Andrea Mignarri, Olimpia Musumeci, Claudia Nesti, Sabina Pappatà, Maria Teresa Pellecchia, Alessia Perna, Antonio Petrucci, Maria Grazia Pomponi, Roberta Ravenni, Ivana Ricca, Alessandra Rufa, Elisabetta Tabolacci, Alessandra Tessa, Alessandro Tessitore, Stephan Zuchner, Gabriella Silvestri, Andrea Cortese, Bernard Brais, Filippo M Santorell. Correction to: Spinocerebellar ataxia 27B: a frequent and slowly progressive autosomal-dominant cerebellar ataxia-experience from an Italian cohort. Journal of neurology. 2024-11-05. PMID:39499281. |
correction to: spinocerebellar ataxia 27b: a frequent and slowly progressive autosomal-dominant cerebellar ataxia-experience from an italian cohort. |
2024-11-05 |
2024-11-08 |
Not clear |
| Chi-Wen Jao, Hsiu-Mei Wu, Tzu-Yun Wang, Chien-An Duan, Po-Shan Wang, Yu-Te W. Morphological changes of cerebral gray matter in spinocerebellar ataxia type 3 using fractal dimension analysis. Progress in brain research. vol 290. 2024-10-24. PMID:39448107. |
spinocerebellar ataxia type 3 (sca3), or machado-joseph disease, presents as a cerebellar cognitive affective syndrome (ccas) and represents the predominant sca genotype in taiwan. |
2024-10-24 |
2024-10-28 |
Not clear |
| César M Cerecedo-Zapata, Yessica S Tapia-Guerrero, José A Ramírez-González, Aranza Meza-Dorantes, Karla N Tercero-Pérez, Hernán Cortés, Araceli Guerra-Grajeda, Ilse H Ortega-Ibarra, Gabriela Gatica-Ramos, Alfredo Poblete-Velazquez, Norberto Leyva-García, Luis Velázquez-Pérez, Bulmaro Cisneros, Jonathan J Magañ. Current Overview of Spinocerebellar Ataxia Type 7 in Mexican Population: Challenges in Specialized Care for a Rare Disease. International journal of molecular sciences. vol 25. issue 19. 2024-10-16. PMID:39409079. |
spinocerebellar ataxia type 7 (sca7) is a rare genetic disease characterized by progressive cerebellar syndrome and macular degeneration. |
2024-10-16 |
2024-10-18 |
Not clear |
| Maria Carolina Da Cunha Ganimi, Christian Marques Couto, Alessandra de La Rocque Ferreira, Carmen Lucia Antão Paiv. Spinocerebellar Ataxia in Brazil: A Comprehensive Genotype - Phenotype Analysis. Cerebellum (London, England). 2024-09-24. PMID:39317855. |
spinocerebellar ataxias (scas) are a diverse group of hereditary neurodegenerative disorders characterized by progressive degeneration of the cerebellum and other parts of the nervous system. |
2024-09-24 |
2024-09-27 |
Not clear |
| Maurizio Cundari, Susanna Vestberg, Peik Gustafsson, Sorina Gorcenco, Anders Rasmusse. Corrigendum: Neurocognitive and cerebellar function in ADHD, autism and spinocerebellar ataxia. Frontiers in systems neuroscience. vol 18. 2024-09-04. PMID:39229304. |
corrigendum: neurocognitive and cerebellar function in adhd, autism and spinocerebellar ataxia. |
2024-09-04 |
2024-09-06 |
Not clear |
| Ryan Johnson, John Lausch, Dakota Degenstein, Boris Rezniko. "One a penny, two a penny", I saw the hot cross bun sign". Clinical imaging. vol 114. 2024-08-17. PMID:39153381. |
over time the radiological sign has expanded with a differential diagnosis of spinocerebellar ataxia, progressive multifocal leukoencephalopathy, paraneoplastic cerebellar degeneration, and variant creutzfeldt-jakob disease. |
2024-08-17 |
2024-08-20 |
Not clear |
| Kaelin Sbrocco, Ella Borgenheimer, Ying Zhang, Mike Koob, Marija Cvetanovi. Cerebellar contribution to cognitive deficits and prefrontal cortex dysfunction in Spinocerebellar Ataxia Type 1 (SCA1). bioRxiv : the preprint server for biology. 2024-07-19. PMID:39026827. |
cerebellar contribution to cognitive deficits and prefrontal cortex dysfunction in spinocerebellar ataxia type 1 (sca1). |
2024-07-19 |
2024-07-21 |
mouse |
| Kaelin Sbrocco, Ella Borgenheimer, Ying Zhang, Mike Koob, Marija Cvetanovi. Cerebellar contribution to cognitive deficits and prefrontal cortex dysfunction in Spinocerebellar Ataxia Type 1 (SCA1). bioRxiv : the preprint server for biology. 2024-07-19. PMID:39026827. |
spinocerebellar ataxia type 1 (sca1), is an inherited, fatal neurodegenerative disease caused by an abnormal expansion of glutamine (q) encoding cag repeats in the gene ataxin-1 (atxn1) and characterized by severe loss of purkinje cells (pcs) in the cerebellum. |
2024-07-19 |
2024-07-21 |
mouse |
| Yingxin Wang, Wenzhu Liu, Yichang Jiao, Yitong Yang, Didi Shan, Xinbo Ji, Rui Zhang, Zexin Zhan, Yao Tang, Dandan Guo, Chuanzhu Yan, Fuchen Li. Advances in the Differentiation of hiPSCs into Cerebellar Neuronal Cells. Stem cell reviews and reports. 2024-07-18. PMID:39023738. |
pathological changes in the cerebellum, whether congenital hereditary or acquired degenerative, can result in a diverse spectrum of disorders, ranging from genetic spinocerebellar ataxias to psychiatric conditions such as autism, and schizophrenia. |
2024-07-18 |
2024-07-20 |
human |
| Tiyasha De, Pooja Sharma, Bharathram Upilli, A Vivekanand, Shreya Bari, Akhilesh Kumar Sonakar, Achal Kumar Srivastava, Mohammed Faru. Spinocerebellar ataxia type 27B (SCA27B) in India: insights from a large cohort study suggest ancient origin. Neurogenetics. 2024-07-08. PMID:38976084. |
spinocerebellar ataxia type 27b (sca27b), a recently identified dominantly inherited cerebellar disorder is caused by gaa-repeat expansions in intron 1 of fibroblast growth factor 14 (fgf14). |
2024-07-08 |
2024-07-11 |
Not clear |
| Adreesh Mukherjee, Sanjay Pande. Tremor in Spinocerebellar Ataxia: A Scoping Review. Tremor and other hyperkinetic movements (New York, N.Y.). vol 14. 2024-06-24. PMID:38911333. |
spinocerebellar ataxia (sca) denotes an expanding list of autosomal dominant cerebellar ataxias. |
2024-06-24 |
2024-06-26 |
Not clear |
| Marcus Grobe-Einsler, Friederike Bork, Aline Faikus, René Hurlemann, Oliver Kau. Effects of cerebellar repetitive transcranial magnetic stimulation plus physiotherapy in spinocerebellar ataxias - A randomized clinical trial. CNS neuroscience & therapeutics. vol 30. issue 6. 2024-06-18. PMID:38887169. |
effects of cerebellar repetitive transcranial magnetic stimulation plus physiotherapy in spinocerebellar ataxias - a randomized clinical trial. |
2024-06-18 |
2024-06-21 |
Not clear |