| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Hiroshi Mitoma, Mario Manto, Marios Hadjivassilio. Immune-Mediated Cerebellar Ataxias: Clinical Diagnosis and Treatment Based on Immunological and Physiological Mechanisms. Journal of movement disorders. vol 14. issue 1. 2021-02-06. PMID:33423437. |
since the first description of immune-mediated cerebellar ataxias (imcas) by charcot in 1868, several milestones have been reached in our understanding of this group of neurological disorders. |
2021-02-06 |
2023-08-13 |
Not clear |
| Christopher M Richmond, Richard Leventer, Monique M Ryan, Martin B Delatyck. Cerebellar ataxia with normal intellect associated with a homozygous truncating variant in CA8. Clinical genetics. vol 97. issue 3. 2021-02-04. PMID:31693170. |
biallelic pathogenic variants in ca8 cause cerebellar ataxia, mental retardation and dysequilibrium syndrome 3 (camrq3), a rare form of hereditary ataxia characterised by cerebellar hypoplasia/atrophy, variable intellectual disability and often quadrupedal gait. |
2021-02-04 |
2023-08-13 |
mouse |
| Christopher M Richmond, Richard Leventer, Monique M Ryan, Martin B Delatyck. Cerebellar ataxia with normal intellect associated with a homozygous truncating variant in CA8. Clinical genetics. vol 97. issue 3. 2021-02-04. PMID:31693170. |
we report a 9 year-old boy with marked gross motor delay, ataxia and progressive cerebellar atrophy with limited bipedal gait, but without intellectual disability. |
2021-02-04 |
2023-08-13 |
mouse |
| Carola Reinhard, Anne-Catherine Bachoud-Lévi, Tobias Bäumer, Enrico Bertini, Alicia Brunelle, Annemieke I Buizer, Antonio Federico, Thomas Gasser, Samuel Groeschel, Sanja Hermanns, Thomas Klockgether, Ingeborg Krägeloh-Mann, G Bernhard Landwehrmeyer, Isabelle Leber, Alfons Macaya, Caterina Mariotti, Wassilios G Meissner, Maria Judit Molnar, Jorik Nonnekes, Juan Dario Ortigoza Escobar, Belen Pérez Dueñas, Lori Renna Linton, Ludger Schöls, Rebecca Schuele, Marina A J Tijssen, Rik Vandenberghe, Anna Volkmer, Nicole I Wolf, Holm Graessne. The European Reference Network for Rare Neurological Diseases. Frontiers in neurology. vol 11. 2021-02-02. PMID:33519696. |
it covers the following disease groups: (i) cerebellar ataxias and hereditary spastic paraplegias; (ii) huntington's disease and other choreas; (iii) frontotemporal dementia; (iv) dystonia, (non-epileptic) paroxysmal disorders, and neurodegeneration with brain iron accumulation; (v) leukoencephalopathies; and (vi) atypical parkinsonian syndromes. |
2021-02-02 |
2023-08-13 |
Not clear |
| Michael Weng Lok Phang, Sze Yuen Lew, Ivy Chung, William Kiong-Seng Lim, Lee Wei Lim, Kah Hui Won. Therapeutic roles of natural remedies in combating hereditary ataxia: A systematic review. Chinese medicine. vol 16. issue 1. 2021-01-31. PMID:33509239. |
hereditary ataxia (ha) represents a group of genetically heterogeneous neurodegenerative diseases caused by dysfunction of the cerebellum or disruption of the connection between the cerebellum and other areas of the central nervous system. |
2021-01-31 |
2023-08-13 |
Not clear |
| Marcos Vinicius Tadao Fujino, Vinicius Boaratti Ciarlariello, Antonio José da Rocha, Marcio Dias Almeida, Orlando G P Barsottini, José Luiz Pedros. The cerebellar form of acquired hepatocerebral degeneration: The hepatic ataxia. Parkinsonism & related disorders. vol 72. 2021-01-29. PMID:32113071. |
the cerebellar form of acquired hepatocerebral degeneration: the hepatic ataxia. |
2021-01-29 |
2023-08-13 |
Not clear |
| b' Venturina Stagni, Alessandra Ferri, Claudia Cirotti, Daniela Baril\\xc3\\xa. ATM Kinase-Dependent Regulation of Autophagy: A Key Player in Senescence? Frontiers in cell and developmental biology. vol 8. 2021-01-26. PMID:33490066.' |
ataxia-telangiectasia mutated kinase (atm) is the product of a gene that is lost in ataxia-telangiectasia (a-t), a rare genetic disorder characterized by ataxia and cerebellar neurodegeneration, defects in the immune response, higher incidence of lymphoma development, and premature aging. |
2021-01-26 |
2023-08-13 |
Not clear |
| Mario Manto, Jordi Gandini, Katharina Feil, Michael Strup. Cerebellar ataxias: an update. Current opinion in neurology. vol 33. issue 1. 2021-01-19. PMID:31789706. |
cerebellar ataxias: an update. |
2021-01-19 |
2023-08-13 |
Not clear |
| Mario Manto, Jordi Gandini, Katharina Feil, Michael Strup. Cerebellar ataxias: an update. Current opinion in neurology. vol 33. issue 1. 2021-01-19. PMID:31789706. |
providing an update on the pathophysiology, cause, diagnosis and treatment of cerebellar ataxias. |
2021-01-19 |
2023-08-13 |
Not clear |
| Roderick P P W M Maas, Rick C G Helmich, Bart P C van de Warrenbur. The role of the cerebellum in degenerative ataxias and essential tremor: Insights from noninvasive modulation of cerebellar activity. Movement disorders : official journal of the Movement Disorder Society. vol 35. issue 2. 2021-01-15. PMID:31820832. |
the role of the cerebellum in degenerative ataxias and essential tremor: insights from noninvasive modulation of cerebellar activity. |
2021-01-15 |
2023-08-13 |
Not clear |
| Roderick P P W M Maas, Rick C G Helmich, Bart P C van de Warrenbur. The role of the cerebellum in degenerative ataxias and essential tremor: Insights from noninvasive modulation of cerebellar activity. Movement disorders : official journal of the Movement Disorder Society. vol 35. issue 2. 2021-01-15. PMID:31820832. |
we here comprehensively explore the therapeutic potential of these techniques in two movement disorders characterized by prominent cerebellar involvement, namely the degenerative ataxias and essential tremor. |
2021-01-15 |
2023-08-13 |
Not clear |
| Niamh X Cawley, Anna T Lyons, Daniel Abebe, Christopher A Wassif, Forbes D Porte. Evaluation of the Potential Role of Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) in Niemann-Pick Disease, Type C1. International journal of molecular sciences. vol 21. issue 7. 2021-01-07. PMID:32244519. |
defects in reelin signaling results in cerebellar dysfunction leading to ataxia as seen in the |
2021-01-07 |
2023-08-13 |
Not clear |
| Elisabetta Indelicato, Alessandra Fanciulli, Wolfgang Nachbauer, Andreas Eigentler, Matthias Amprosi, Jean-Pierre Ndayisaba, Roberta Granata, Gregor Wenning, Sylvia Boesc. Cardiovascular autonomic testing in the work-up of cerebellar ataxia: insight from an observational single center study. Journal of neurology. vol 267. issue 4. 2021-01-01. PMID:31893293. |
cerebellar ataxias are a heterogeneous group of disorders of both genetic and non-genetic origin. |
2021-01-01 |
2023-08-13 |
Not clear |
| Elisabetta Indelicato, Alessandra Fanciulli, Wolfgang Nachbauer, Andreas Eigentler, Matthias Amprosi, Jean-Pierre Ndayisaba, Roberta Granata, Gregor Wenning, Sylvia Boesc. Cardiovascular autonomic testing in the work-up of cerebellar ataxia: insight from an observational single center study. Journal of neurology. vol 267. issue 4. 2021-01-01. PMID:31893293. |
in sporadic cases, two entities are recognized: multiple system atrophy of cerebellar type (msa-c) and saoa (sporadic adult-onset ataxia). |
2021-01-01 |
2023-08-13 |
Not clear |
| J Gandini, Mario Manto, T Bremova-Ertl, K Feil, M Strup. The neurological update: therapies for cerebellar ataxias in 2020. Journal of neurology. vol 267. issue 4. 2021-01-01. PMID:32002650. |
the neurological update: therapies for cerebellar ataxias in 2020. |
2021-01-01 |
2023-08-13 |
Not clear |
| J Gandini, Mario Manto, T Bremova-Ertl, K Feil, M Strup. The neurological update: therapies for cerebellar ataxias in 2020. Journal of neurology. vol 267. issue 4. 2021-01-01. PMID:32002650. |
cerebellar ataxias (cas) represent a heterogeneous group of sporadic or inherited disorders. |
2021-01-01 |
2023-08-13 |
Not clear |
| J Gandini, Mario Manto, T Bremova-Ertl, K Feil, M Strup. The neurological update: therapies for cerebellar ataxias in 2020. Journal of neurology. vol 267. issue 4. 2021-01-01. PMID:32002650. |
in this update, we will discuss the symptomatic, physical and occupational therapies now being trialled along with individualized exercises, and present key emerging issues on immune-mediated cerebellar ataxias, hereditary cerebellar ataxias. |
2021-01-01 |
2023-08-13 |
Not clear |
| Luiz Eduardo Novis, Mariana Spitz, Marcia Jardim, Salmo Raskin, Hélio A G Teiv. Evidence and practices of the use of next generation sequencing in patients with undiagnosed autosomal dominant cerebellar ataxias: a review. Arquivos de neuro-psiquiatria. vol 78. issue 9. 2020-12-29. PMID:32725052. |
evidence and practices of the use of next generation sequencing in patients with undiagnosed autosomal dominant cerebellar ataxias: a review. |
2020-12-29 |
2023-08-13 |
Not clear |
| Luiz Eduardo Novis, Mariana Spitz, Marcia Jardim, Salmo Raskin, Hélio A G Teiv. Evidence and practices of the use of next generation sequencing in patients with undiagnosed autosomal dominant cerebellar ataxias: a review. Arquivos de neuro-psiquiatria. vol 78. issue 9. 2020-12-29. PMID:32725052. |
autosomal dominant cerebellar ataxias (adca) are heterogeneous diseases with a highly variable phenotype and genotype. |
2020-12-29 |
2023-08-13 |
Not clear |
| Rubens Gisbert Cury, Carina França, Egberto Reis Barbosa, Manoel Jacobsen Teixeira, Daniel Ciampi de Andrad. Little Brain, Big Expectations. Brain sciences. vol 10. issue 12. 2020-12-26. PMID:33297358. |
studies conducted thus far have shed light on the potential of cerebellar neuromodulation for attenuating symptoms in patients with some forms of isolated and combined dystonia, dyskinesia in parkinson's disease, and neurodegenerative ataxia. |
2020-12-26 |
2023-08-13 |
Not clear |