| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Vittorio Riso, Salvatore Rossi, Tommaso F Nicoletti, Alessandra Tessa, Lorena Travaglini, Ginevra Zanni, Chiara Aiello, Alessia Perna, Melissa Barghigiani, Maria Grazia Pomponi, Filippo M Santorelli, Gabriella Silvestr. Application of a Clinical Workflow May Lead to Increased Diagnostic Precision in Hereditary Spastic Paraplegias and Cerebellar Ataxias: A Single Center Experience. Brain sciences. vol 11. issue 2. 2021-03-16. PMID:33669240. |
the molecular characterization of hereditary spastic paraplegias (hsp) and inherited cerebellar ataxias (ca) is challenged by their clinical and molecular heterogeneity. |
2021-03-16 |
2023-08-13 |
Not clear |
| Lauren N Miterko, Tao Lin, Joy Zhou, Meike E van der Heijden, Jaclyn Beckinghausen, Joshua J White, Roy V Sillito. Neuromodulation of the cerebellum rescues movement in a mouse model of ataxia. Nature communications. vol 12. issue 1. 2021-03-15. PMID:33637754. |
neuromodulation of the cerebellum rescues movement in a mouse model of ataxia. |
2021-03-15 |
2023-08-13 |
mouse |
| Lauren N Miterko, Tao Lin, Joy Zhou, Meike E van der Heijden, Jaclyn Beckinghausen, Joshua J White, Roy V Sillito. Neuromodulation of the cerebellum rescues movement in a mouse model of ataxia. Nature communications. vol 12. issue 1. 2021-03-15. PMID:33637754. |
here, we demonstrate the potential benefits of dbs in a model of ataxia by targeting the cerebellum, a major motor center in the brain. |
2021-03-15 |
2023-08-13 |
mouse |
| Parsa Ravanfar, Samantha M Loi, Warda T Syeda, Tamsyn E Van Rheenen, Ashley I Bush, Patricia Desmond, Vanessa L Cropley, Darius J R Lane, Carlos M Opazo, Bradford A Moffat, Dennis Velakoulis, Christos Panteli. Systematic Review: Quantitative Susceptibility Mapping (QSM) of Brain Iron Profile in Neurodegenerative Diseases. Frontiers in neuroscience. vol 15. 2021-03-10. PMID:33679303. |
as a general pattern, qsm revealed increased magnetic susceptibility (suggestive of increased iron content) in the brain regions associated with the pathology of each disorder, such as the amygdala and caudate nucleus in alzheimer's disease, the substantia nigra in parkinson's disease, motor cortex in amyotrophic lateral sclerosis, basal ganglia in huntington's disease, and cerebellar dentate nucleus in friedreich's ataxia. |
2021-03-10 |
2023-08-13 |
Not clear |
| Rosella Abeti, Annalisa Baccaro, Noemi Esteras, Paola Giunt. Novel Nrf2-Inducer Prevents Mitochondrial Defects and Oxidative Stress in Friedreich's Ataxia Models. Frontiers in cellular neuroscience. vol 12. 2021-03-04. PMID:30065630. |
friedreich's ataxia (frda) is an autosomal recessive neurodegenerative disorder, affecting dorsal root ganglia (drg), cerebellar dentate nuclei and heart. |
2021-03-04 |
2023-08-13 |
Not clear |
| Hiroshi Mitoma, Jerome Honnorat, Kazuhiko Yamaguchi, Mario Mant. Fundamental Mechanisms of Autoantibody-Induced Impairments on Ion Channels and Synapses in Immune-Mediated Cerebellar Ataxias. International journal of molecular sciences. vol 21. issue 14. 2021-03-02. PMID:32668612. |
fundamental mechanisms of autoantibody-induced impairments on ion channels and synapses in immune-mediated cerebellar ataxias. |
2021-03-02 |
2023-08-13 |
Not clear |
| Hiroshi Mitoma, Jerome Honnorat, Kazuhiko Yamaguchi, Mario Mant. Fundamental Mechanisms of Autoantibody-Induced Impairments on Ion Channels and Synapses in Immune-Mediated Cerebellar Ataxias. International journal of molecular sciences. vol 21. issue 14. 2021-03-02. PMID:32668612. |
the same mechanism is discussed in immune-mediated cerebellar ataxias (imcas), but the pathogenesis has been less investigated. |
2021-03-02 |
2023-08-13 |
Not clear |
| Hiroshi Mitoma, Jerome Honnorat, Kazuhiko Yamaguchi, Mario Mant. Fundamental Mechanisms of Autoantibody-Induced Impairments on Ion Channels and Synapses in Immune-Mediated Cerebellar Ataxias. International journal of molecular sciences. vol 21. issue 14. 2021-03-02. PMID:32668612. |
the aim of the present review is to evaluate what kind of cerebellar ion channels, their related proteins, and the synaptic machinery proteins that are preferably impaired by autoantibodies so as to develop cerebellar ataxias (cas). |
2021-03-02 |
2023-08-13 |
Not clear |
| Pierre Cabaraux, Jordi Gandini, Shinji Kakei, Mario Manto, Hiroshi Mitoma, Hirokazu Tanak. Dysmetria and Errors in Predictions: The Role of Internal Forward Model. International journal of molecular sciences. vol 21. issue 18. 2021-02-26. PMID:32962256. |
the terminology of cerebellar dysmetria embraces a ubiquitous symptom in motor deficits, oculomotor symptoms, and cognitive/emotional symptoms occurring in cerebellar ataxias. |
2021-02-26 |
2023-08-13 |
human |
| Pierre Cabaraux, Jordi Gandini, Shinji Kakei, Mario Manto, Hiroshi Mitoma, Hirokazu Tanak. Dysmetria and Errors in Predictions: The Role of Internal Forward Model. International journal of molecular sciences. vol 21. issue 18. 2021-02-26. PMID:32962256. |
we propose that motor dysmetria observed in attacks of ataxia occurs as a result of impaired predictive computation of the internal forward model in the cerebellum. |
2021-02-26 |
2023-08-13 |
human |
| Paola Giunti, Elide Mantuano, Marina Frontal. Episodic Ataxias: Faux or Real? International journal of molecular sciences. vol 21. issue 18. 2021-02-24. PMID:32899446. |
the term episodic ataxias (ea) was originally used for a few autosomal dominant diseases, characterized by attacks of cerebellar dysfunction of variable duration and frequency, often accompanied by other ictal and interictal signs. |
2021-02-24 |
2023-08-13 |
Not clear |
| Marios Hadjivassiliou, Graeme Wild, Priya Shanmugarajah, Richard A Grünewald, Mohammed Aki. Indirect immunofluorescent assay as an aid in the diagnosis of suspected immune mediated ataxias. Cerebellum & ataxias. vol 8. issue 1. 2021-02-23. PMID:33593427. |
immune mediated cerebellar ataxias account for a substantial proportion of all progressive ataxias. |
2021-02-23 |
2023-08-13 |
Not clear |
| Guoliang Chai, Alice Webb, Chen Li, Danny Antaki, Sangmoon Lee, Martin W Breuss, Nhi Lang, Valentina Stanley, Paula Anzenberg, Xiaoxu Yang, Trevor Marshall, Patrick Gaffney, Klaas J Wierenga, Brian Hon-Yin Chung, Mandy Ho-Yin Tsang, Lynn S Pais, Alysia Kern Lovgren, Grace E VanNoy, Heidi L Rehm, Ghayda Mirzaa, Eyby Leon, Jullianne Diaz, Alexander Neumann, Arnout P Kalverda, Iain W Manfield, David A Parry, Clare V Logan, Colin A Johnson, David T Bonthron, Elizabeth M A Valleley, Mahmoud Y Issa, Sherif F Abdel-Ghafar, Mohamed S Abdel-Hamid, Patricia Jennings, Maha S Zaki, Eamonn Sheridan, Joseph G Gleeso. Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly. Neuron. vol 109. issue 2. 2021-02-17. PMID:33220177. |
autosomal-recessive cerebellar hypoplasia and ataxia constitute a group of heterogeneous brain disorders caused by disruption of several fundamental cellular processes. |
2021-02-17 |
2023-08-13 |
mouse |
| Giacomo Garone, Alessandro Capuano, Lorena Travaglini, Federica Graziola, Fabrizia Stregapede, Ginevra Zanni, Federico Vigevano, Enrico Bertini, Francesco Nicit. Clinical and Genetic Overview of Paroxysmal Movement Disorders and Episodic Ataxias. International journal of molecular sciences. vol 21. issue 10. 2021-02-16. PMID:32443735. |
two main categories of pmds are recognized based on the phenomenology: paroxysmal dyskinesias (pxds) are characterized by transient episodes hyperkinetic movement disorders, while attacks of cerebellar dysfunction are the hallmark of episodic ataxias (eas). |
2021-02-16 |
2023-08-13 |
Not clear |
| Sabina Barresi, Maria Lisa Dentici, Francesca Manzoni, Emanuele Bellacchio, Emanuele Agolini, Simone Pizzi, Andrea Ciolfi, Mark Tarnopolsky, Lauren Brady, Giacomo Garone, Antonio Novelli, Davide Mei, Renzo Guerrini, Alessandro Capuano, Chiara Pantaleoni, Marco Tartagli. Infantile-Onset Syndromic Cerebellar Ataxia and CACNA1G Mutations. Pediatric neurology. vol 104. 2021-02-08. PMID:31836334. |
congenital ataxias associated with cerebellar atrophy are clinically heterogeneous conditions with a variable age of onset and a diverse molecular basis. |
2021-02-08 |
2023-08-13 |
Not clear |
| 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. |
immune-mediated cerebellar ataxias: clinical diagnosis and treatment based on immunological and physiological mechanisms. |
2021-02-06 |
2023-08-13 |
Not clear |
| 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 |