| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Majid Zaki-Dizaji, Mohammad Tajdini, Fatemeh Kiaee, Hossein Shojaaldini, Reza Shervin Badv, Hassan Abolhassani, Asghar Aghamohammad. Dystonia in Ataxia Telangiectasia: A Case Report with Novel Mutations. Oman medical journal. vol 35. issue 1. 2020-09-28. PMID:32095276. |
ataxia telangiectasia (a-t) is a common, genetically inherited cause of early childhood-onset ataxia that is classically characterized by progressive cerebellar malfunction, oculocutaneous telangiectasia, genome instability, and immunodeficiency. |
2020-09-28 |
2023-08-13 |
Not clear |
| Michela Lupo, Giusy Olivito, Silvia Clausi, Libera Siciliano, Vittorio Riso, Marco Bozzali, Filippo M Santorelli, Gabriella Silvestri, Maria Leggi. Cerebello-Cortical Alterations Linked to Cognitive and Social Problems in Patients With Spastic Paraplegia Type 7: A Preliminary Study. Frontiers in neurology. vol 11. 2020-09-28. PMID:32161564. |
spastic paraplegia type 7 (spg7), which represents one of the most common forms of autosomal recessive spastic paraplegia (mim#607259), often manifests with a complicated phenotype, characterized by progressive spastic ataxia with evidence of cerebellar atrophy on brain mri. |
2020-09-28 |
2023-08-13 |
human |
| Valentina Cerrat. Cerebellar Astrocytes: Much More Than Passive Bystanders In Ataxia Pathophysiology. Journal of clinical medicine. vol 9. issue 3. 2020-09-28. PMID:32168822. |
cerebellar astrocytes: much more than passive bystanders in ataxia pathophysiology. |
2020-09-28 |
2023-08-13 |
Not clear |
| Valentina Cerrat. Cerebellar Astrocytes: Much More Than Passive Bystanders In Ataxia Pathophysiology. Journal of clinical medicine. vol 9. issue 3. 2020-09-28. PMID:32168822. |
nevertheless, in the last few decades, growing evidences are pointing to cerebellar astrocytes as crucial players not only in the progression but also in the onset of distinct forms of ataxia. |
2020-09-28 |
2023-08-13 |
Not clear |
| Takeru Honda, Hiroshi Mitoma, Hirotaka Yoshida, Kyota Bando, Hiroo Terashi, Takeshi Taguchi, Yohane Miyata, Satoko Kumada, Takashi Hanakawa, Hitoshi Aizawa, Shiro Yano, Toshiyuki Kondo, Hidehiro Mizusawa, Mario Manto, Shinji Kake. Assessment and Rating of Motor Cerebellar Ataxias With the Kinect v2 Depth Sensor: Extending Our Appraisal. Frontiers in neurology. vol 11. 2020-09-28. PMID:32218767. |
assessment and rating of motor cerebellar ataxias with the kinect v2 depth sensor: extending our appraisal. |
2020-09-28 |
2023-08-13 |
human |
| Takeru Honda, Hiroshi Mitoma, Hirotaka Yoshida, Kyota Bando, Hiroo Terashi, Takeshi Taguchi, Yohane Miyata, Satoko Kumada, Takashi Hanakawa, Hitoshi Aizawa, Shiro Yano, Toshiyuki Kondo, Hidehiro Mizusawa, Mario Manto, Shinji Kake. Assessment and Rating of Motor Cerebellar Ataxias With the Kinect v2 Depth Sensor: Extending Our Appraisal. Frontiers in neurology. vol 11. 2020-09-28. PMID:32218767. |
quantitative measurement of cerebellar ataxias (cas) is essential for assessment of evidence-based treatments and the monitoring of the progress or recovery of diseases. |
2020-09-28 |
2023-08-13 |
human |
| Bei-Bei Cao, Xiao-Xian Zhang, Chen-Yu Du, Zhan Liu, Yi-Hua Qiu, Yu-Ping Pen. TGF-β1 Provides Neuroprotection via Inhibition of Microglial Activation in 3-Acetylpyridine-Induced Cerebellar Ataxia Model Rats. Frontiers in neuroscience. vol 14. 2020-09-28. PMID:32265625. |
cerebellar ataxias (cas) consist of a heterogeneous group of neurodegenerative diseases hallmarked by motor deficits and deterioration of the cerebellum and its associated circuitries. |
2020-09-28 |
2023-08-13 |
rat |
| Ecem Kaya, David A Smith, Claire Smith, Barry Boland, Michael Strupp, Frances M Plat. Beneficial Effects of Acetyl-DL-Leucine (ADLL) in a Mouse Model of Sandhoff Disease. Journal of clinical medicine. vol 9. issue 4. 2020-09-28. PMID:32276303. |
here, we explored the efficacy of acetyl-dl-leucine (adll), which has been shown to improve ataxia in observational studies in patients with niemann-pick type c1 and other cerebellar ataxias. |
2020-09-28 |
2023-08-13 |
mouse |
| Polina A Egorova, Aleksandra V Gavrilova, Ilya B Bezprozvann. Ataxic Symptoms in Huntington's Disease Transgenic Mouse Model Are Alleviated by Chlorzoxazone. Frontiers in neuroscience. vol 14. 2020-09-28. PMID:32317916. |
recent studies of hd patients revealed that the degeneration of cerebellum is also observed independently from the striatal atrophy during early hd stage and may contribute to the motor impairment and ataxia observed in hd. |
2020-09-28 |
2023-08-13 |
mouse |
| Anna Niewiadomska-Cimicka, Antoine Hache, Yvon Trottie. Gene Deregulation and Underlying Mechanisms in Spinocerebellar Ataxias With Polyglutamine Expansion. Frontiers in neuroscience. vol 14. 2020-09-28. PMID:32581696. |
polyq scas are characterized by degeneration of the cerebellum and its associated structures and lead to progressive ataxia and other diverse symptoms. |
2020-09-28 |
2023-08-13 |
Not clear |
| Leema P Cornelius, Vivekasaravanan Raju, Asir Juli. Hyperargininemia Presenting as Intermittent Ataxia and Cerebellar Atrophy. Annals of Indian Academy of Neurology. vol 23. issue 3. 2020-09-28. PMID:32606543. |
hyperargininemia presenting as intermittent ataxia and cerebellar atrophy. |
2020-09-28 |
2023-08-13 |
Not clear |
| Omar Jiménez-Zarazúa, Lourdes Noemí Vélez-Ramírez, María Alcocer-León, Diego Armando Hernández-Domínguez, Juana Elizabeth Tadeo-González, María Andrea Martínez-Rivera, Martín Daniel Alejandro López-González, Sandra Xaviera Lizeth Tafoya-Rojas, Jaime Daniel Mondragó. Paraneoplastic Cerebellar Degeneration Secondary to BRAF Mutant Melanoma Metastasis from an Occult Primary Cancer. Case reports in oncology. vol 13. issue 2. 2020-09-28. PMID:32774248. |
paraneoplastic cerebellar degeneration (pcd) is one of the classic pns and is characterized by acute or subacute onset of ataxia and/or presence of onconeural antibodies. |
2020-09-28 |
2023-08-13 |
Not clear |
| José Luiz Pedroso, Wladimir Bocca Vieira de Rezende Pinto, Orlando Graziani Povoas Barsottini, Acary Souza Bulle Oliveir. Should we investigate mitochondrial disorders in progressive adult-onset undetermined ataxias? Cerebellum & ataxias. vol 7. 2020-09-28. PMID:32922825. |
despite the broad development of next-generation sequencing approaches recently, such as whole-exome sequencing, diagnostic workup of adult-onset progressive cerebellar ataxias without remarkable family history and with negative genetic panel testing for scas remains a complex and expensive clinical challenge. |
2020-09-28 |
2023-08-13 |
Not clear |
| Elan D Louis, Phyllis L Faus. Essential tremor: the most common form of cerebellar degeneration? Cerebellum & ataxias. vol 7. 2020-09-28. PMID:32922824. |
the degenerative cerebellar ataxias comprise a large and heterogeneous group of neurological diseases whose hallmark clinical feature is ataxia, and which are accompanied, to variable degrees, by other features that are attributable to cerebellar dysfunction. |
2020-09-28 |
2023-08-13 |
Not clear |
| Peter Kovermann, Verena Untiet, Yulia Kolobkova, Miriam Engels, Stephan Baader, Karl Schilling, Christoph Fahlk. Increased glutamate transporter-associated anion currents cause glial apoptosis in episodic ataxia 6. Brain communications. vol 2. issue 1. 2020-09-28. PMID:32954283. |
transgenic mice display epilepsy, ataxia and cerebellar atrophy and, thus, closely resemble the human disease. |
2020-09-28 |
2023-08-13 |
mouse |
| Peter Kovermann, Verena Untiet, Yulia Kolobkova, Miriam Engels, Stephan Baader, Karl Schilling, Christoph Fahlk. Increased glutamate transporter-associated anion currents cause glial apoptosis in episodic ataxia 6. Brain communications. vol 2. issue 1. 2020-09-28. PMID:32954283. |
this study shows how gain-of-function of glutamate transporter-associated anion channels causes ataxia through modifying cerebellar development. |
2020-09-28 |
2023-08-13 |
mouse |
| Marios Hadjivassilio. Advances in Therapies of Cerebellar Disorders: Immune-mediated Ataxias. CNS & neurological disorders drug targets. vol 18. issue 6. 2020-09-24. PMID:29268693. |
advances in therapies of cerebellar disorders: immune-mediated ataxias. |
2020-09-24 |
2023-08-13 |
Not clear |
| Marios Hadjivassilio. Advances in Therapies of Cerebellar Disorders: Immune-mediated Ataxias. CNS & neurological disorders drug targets. vol 18. issue 6. 2020-09-24. PMID:29268693. |
the identification of an increasing number of immune mediated ataxias suggests that the cerebellum is often a target organ for autoimmune insults. |
2020-09-24 |
2023-08-13 |
Not clear |
| Sinem Tunc, Nastasja Baginski, Juliane Lubs, Julien F Bally, Anne Weissbach, Magdalena Khira Baaske, Vera Tadic, Norbert Brüggemann, Tobias Bäumer, Christian Beste, Alexander Müncha. Predictive coding and adaptive behavior in patients with genetically determined cerebellar ataxia--A neurophysiology study. NeuroImage. Clinical. vol 24. 2020-09-22. PMID:31678909. |
genetically determined cerebellar ataxias (ca) are a heterogeneous group of disorders with progressive decline of cerebellar functions. |
2020-09-22 |
2023-08-13 |
Not clear |
| G E Rudenskaya, V A Kadnikova, O P Ryzhkov. [Spastic ataxia of Charlevoix-Saguenay: the first Russian case report and literature review]. Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova. vol 120. issue 2. 2020-09-17. PMID:32307416. |
spastic ataxia of charlevoix-saguenay (arsacs) is a rare autosomal recessive neurodegenerative disease related to sacs gene and characterized by cerebellar, pyramidal and some other signs. |
2020-09-17 |
2023-08-13 |
Not clear |