| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Shihan Chen, Catherine Ashton, Rawan Sakalla, Guillemette Clement, Sophie Planel, Celine Bonnet, Phillipa Lamont, Karthik Kulanthaivelu, Atchayaram Nalini, Henry Houlden, Antoine Duquette, Marie-Josee Dicaire, Pablo Iruzubieta Agudo, Javier Ruiz Martinez, Enrique Marco de Lucas, Rodrigo Sutil Berjon, Jon Infante Ceberio, Elisabetta Indelicato, Sylvia Boesch, Matthis Synofzik, Benjamin Bender, Matt C Danzi, Stephan Zuchner, David Pellerin, Bernard Brais, Mathilde Renaud, Roberta La Pian. Neuroradiological findings in GAA-FGF14 ataxia (SCA27B): more than cerebellar atrophy. medRxiv : the preprint server for health sciences. 2024-02-26. PMID:38405699. |
discussion our study confirms that cerebellar atrophy is a key feature of gaa-fgf14 ataxia. |
2024-02-26 |
2024-02-28 |
human |
| Marina Sanchez-Flores, Marc Corral-Juan, Esther Gasch-Navalón, Davide Cirillo, Ivelisse Sanchez, Antoni Matilla-Dueña. Novel genotype-phenotype correlations, differential cerebellar allele-specific methylation, and a common origin of the (ATTTC) Human genetics. 2024-02-24. PMID:38396267. |
novel genotype-phenotype correlations, differential cerebellar allele-specific methylation, and a common origin of the (atttc) spinocerebellar ataxia subtype 37 (sca37) is a rare disease originally identified in ataxia patients from the iberian peninsula with a pure cerebellar syndrome. |
2024-02-24 |
2024-02-26 |
Not clear |
| Zi-Hao Li, Bin Li, Xiao-Yang Zhang, Jing-Ning Zh. Neuropeptides and Their Roles in the Cerebellum. International journal of molecular sciences. vol 25. issue 4. 2024-02-24. PMID:38397008. |
on the other hand, cerebellar neuropeptides hold a critical position in the pathophysiology and pathogenesis of many cerebellar-related motor and psychiatric disorders, such as cerebellar ataxias and autism. |
2024-02-24 |
2024-02-26 |
Not clear |
| Diego Lopergolo, Francesca Rosini, Elena Pretegiani, Alessia Bargagli, Valeria Serchi, Alessandra Ruf. Autosomal recessive cerebellar ataxias: a diagnostic classification approach according to ocular features. Frontiers in integrative neuroscience. vol 17. 2024-02-23. PMID:38390227. |
autosomal recessive cerebellar ataxias: a diagnostic classification approach according to ocular features. |
2024-02-23 |
2024-02-25 |
Not clear |
| Diego Lopergolo, Francesca Rosini, Elena Pretegiani, Alessia Bargagli, Valeria Serchi, Alessandra Ruf. Autosomal recessive cerebellar ataxias: a diagnostic classification approach according to ocular features. Frontiers in integrative neuroscience. vol 17. 2024-02-23. PMID:38390227. |
autosomal recessive cerebellar ataxias (arcas) are a heterogeneous group of neurodegenerative disorders affecting primarily the cerebellum and/or its afferent tracts, often accompanied by damage of other neurological or extra-neurological systems. |
2024-02-23 |
2024-02-25 |
Not clear |
| Federica Pilotto, Andrea Del Bondio, Hélène Pucci. Hereditary Ataxias: From Bench to Clinic, Where Do We Stand? Cells. vol 13. issue 4. 2024-02-23. PMID:38391932. |
cerebellar ataxias are a wide heterogeneous group of movement disorders. |
2024-02-23 |
2024-02-25 |
Not clear |
| Federica Pilotto, Andrea Del Bondio, Hélène Pucci. Hereditary Ataxias: From Bench to Clinic, Where Do We Stand? Cells. vol 13. issue 4. 2024-02-23. PMID:38391932. |
the clinical presentation of these conditions can exhibit a diverse range of symptoms across different age groups, spanning from pure cerebellar manifestations to sensory ataxia and multisystemic diseases. |
2024-02-23 |
2024-02-25 |
Not clear |
| Chiara Minotti, Ludovico Graziani, Ester Sallicandro, Maria Cristina Digilio, Roberto Falasca, Viola Alesi, Giuseppe Novelli, Maria Lisa Dentici, Sara Loddo, Antonio Novell. Case report: A new Frontiers in genetics. vol 14. 2024-02-21. PMID:38380230. |
here we describe the phenotypic and molecular characterization of a new 6q interstitial deletion in a girl with developmental delay, intellectual disability, cerebellar vermis hypoplasia, facial peculiar characteristics, ataxia and ocular abnormalities. |
2024-02-21 |
2024-02-23 |
Not clear |
| Daisuke Kuzume, Yuko Morimoto, Satoshi Tsutsumi, Masahiro Yamasaki, Naohisa Hosom. [A case of bilateral middle cerebellar peduncle infarction with hot cross bun sign]. Rinsho shinkeigaku = Clinical neurology. 2024-02-18. PMID:38369329. |
neurological examination revealed dysarthria and cerebellar truncal ataxia. |
2024-02-18 |
2024-02-21 |
Not clear |
| Mónica Ferreira, Tamara Schaprian, David Kügler, Martin Reuter, Katharina Deike-Hoffmann, Dagmar Timmann, Thomas M Ernst, Paola Giunti, Hector Garcia-Moreno, Bart van de Warrenburg, Judith van Gaalen, Jeroen de Vries, Heike Jacobi, Katharina Marie Steiner, Gülin Öz, James M Joers, Chiadi Onyike, Michal Povazan, Kathrin Reetz, Sandro Romanzetti, Thomas Klockgether, Jennifer Fabe. Cerebellar Volumetry in Ataxias: Relation to Ataxia Severity and Duration. Cerebellum (London, England). 2024-02-16. PMID:38363498. |
cerebellar volumetry in ataxias: relation to ataxia severity and duration. |
2024-02-16 |
2024-02-18 |
Not clear |
| Mónica Ferreira, Tamara Schaprian, David Kügler, Martin Reuter, Katharina Deike-Hoffmann, Dagmar Timmann, Thomas M Ernst, Paola Giunti, Hector Garcia-Moreno, Bart van de Warrenburg, Judith van Gaalen, Jeroen de Vries, Heike Jacobi, Katharina Marie Steiner, Gülin Öz, James M Joers, Chiadi Onyike, Michal Povazan, Kathrin Reetz, Sandro Romanzetti, Thomas Klockgether, Jennifer Fabe. Cerebellar Volumetry in Ataxias: Relation to Ataxia Severity and Duration. Cerebellum (London, England). 2024-02-16. PMID:38363498. |
cerebellar atrophy is the neuropathological hallmark of most ataxias. |
2024-02-16 |
2024-02-18 |
Not clear |
| Mónica Ferreira, Tamara Schaprian, David Kügler, Martin Reuter, Katharina Deike-Hoffmann, Dagmar Timmann, Thomas M Ernst, Paola Giunti, Hector Garcia-Moreno, Bart van de Warrenburg, Judith van Gaalen, Jeroen de Vries, Heike Jacobi, Katharina Marie Steiner, Gülin Öz, James M Joers, Chiadi Onyike, Michal Povazan, Kathrin Reetz, Sandro Romanzetti, Thomas Klockgether, Jennifer Fabe. Cerebellar Volumetry in Ataxias: Relation to Ataxia Severity and Duration. Cerebellum (London, England). 2024-02-16. PMID:38363498. |
patients with sca6 showed a pronounced volume loss in cerebellar grey matter with increasing ataxia severity compared to all other patient groups. |
2024-02-16 |
2024-02-18 |
Not clear |
| Liedewei Van de Vondel, Jonathan De Winter, Vincent Timmerman, Jonathan Baet. Overarching pathomechanisms in inherited peripheral neuropathies, spastic paraplegias, and cerebellar ataxias. Trends in neurosciences. 2024-02-15. PMID:38360512. |
overarching pathomechanisms in inherited peripheral neuropathies, spastic paraplegias, and cerebellar ataxias. |
2024-02-15 |
2024-02-18 |
Not clear |
| Liedewei Van de Vondel, Jonathan De Winter, Vincent Timmerman, Jonathan Baet. Overarching pathomechanisms in inherited peripheral neuropathies, spastic paraplegias, and cerebellar ataxias. Trends in neurosciences. 2024-02-15. PMID:38360512. |
historical clinical classification boundaries were drawn between disorders with seemingly different etiologies, such as inherited peripheral neuropathies (ipns), spastic paraplegias, and cerebellar ataxias. |
2024-02-15 |
2024-02-18 |
Not clear |
| Ping He, Shuting Zhong, Shuaijun Lin, Zhiyan Xia, Liqing Wang, Yuhe Han, Di Xu, Shuping Hu, Xiaokun Li, Peijun Li, Cong Wan. FGF9 is required for Purkinje cell development and function in the cerebellum. iScience. vol 27. issue 2. 2024-02-14. PMID:38352230. |
insufficient fgf9 during cerebellum development will cause ataxia defects. |
2024-02-14 |
2024-02-16 |
Not clear |
| Razan Orfali, Adnan Z Alwatban, Rawan S Orfali, Liz Lau, Noble Chea, Abdullah M Alotaibi, Young-Woo Nam, Miao Zhan. Oxidative stress and ion channels in neurodegenerative diseases. Frontiers in physiology. vol 15. 2024-02-13. PMID:38348223. |
this review primarily explores the relationship and potential links between oxidative stress and ion channels in neurodegenerative conditions, such as cerebellar ataxias and parkinson's disease. |
2024-02-13 |
2024-02-15 |
Not clear |
| b' Olivera Tama\\xc5\\xa1, Gorica Mari\\xc4\\x87, Milutin Kosti\\xc4\\x87, Andona Milovanovi\\xc4\\x87, Katarina \\xc4\\x90ur\\xc4\\x91evi\\xc4\\x87, Biljana Salak \\xc4\\x90oki\\xc4\\x87, Elka Stefanova, Tatjana Pekmezovi\\xc4\\x87, Nata\\xc5\\xa1a Draga\\xc5\\xa1evi\\xc4\\x87-Mi\\xc5\\xa1kovi\\xc4\\x8. The Impact of Demographic and Clinical Factors on the Quality of Life in Patients with Neurodegenerative Cerebellar Ataxias. Brain sciences. vol 14. issue 1. 2024-01-26. PMID:38275506.' |
the impact of demographic and clinical factors on the quality of life in patients with neurodegenerative cerebellar ataxias. |
2024-01-26 |
2024-01-28 |
Not clear |
| b' Olivera Tama\\xc5\\xa1, Gorica Mari\\xc4\\x87, Milutin Kosti\\xc4\\x87, Andona Milovanovi\\xc4\\x87, Katarina \\xc4\\x90ur\\xc4\\x91evi\\xc4\\x87, Biljana Salak \\xc4\\x90oki\\xc4\\x87, Elka Stefanova, Tatjana Pekmezovi\\xc4\\x87, Nata\\xc5\\xa1a Draga\\xc5\\xa1evi\\xc4\\x87-Mi\\xc5\\xa1kovi\\xc4\\x8. The Impact of Demographic and Clinical Factors on the Quality of Life in Patients with Neurodegenerative Cerebellar Ataxias. Brain sciences. vol 14. issue 1. 2024-01-26. PMID:38275506.' |
in neurodegenerative cerebellar ataxias, not only ataxia but also extra-cerebellar signs have a significant impact on patients' health related to quality of life (hrqol). |
2024-01-26 |
2024-01-28 |
Not clear |
| b' Olivera Tama\\xc5\\xa1, Gorica Mari\\xc4\\x87, Milutin Kosti\\xc4\\x87, Andona Milovanovi\\xc4\\x87, Katarina \\xc4\\x90ur\\xc4\\x91evi\\xc4\\x87, Biljana Salak \\xc4\\x90oki\\xc4\\x87, Elka Stefanova, Tatjana Pekmezovi\\xc4\\x87, Nata\\xc5\\xa1a Draga\\xc5\\xa1evi\\xc4\\x87-Mi\\xc5\\xa1kovi\\xc4\\x8. The Impact of Demographic and Clinical Factors on the Quality of Life in Patients with Neurodegenerative Cerebellar Ataxias. Brain sciences. vol 14. issue 1. 2024-01-26. PMID:38275506.' |
the aim of this study was to evaluate the various aspects of hrqol and predictors of qol in patients with neurodegenerative cerebellar ataxias. |
2024-01-26 |
2024-01-28 |
Not clear |
| b' Olivera Tama\\xc5\\xa1, Gorica Mari\\xc4\\x87, Milutin Kosti\\xc4\\x87, Andona Milovanovi\\xc4\\x87, Katarina \\xc4\\x90ur\\xc4\\x91evi\\xc4\\x87, Biljana Salak \\xc4\\x90oki\\xc4\\x87, Elka Stefanova, Tatjana Pekmezovi\\xc4\\x87, Nata\\xc5\\xa1a Draga\\xc5\\xa1evi\\xc4\\x87-Mi\\xc5\\xa1kovi\\xc4\\x8. The Impact of Demographic and Clinical Factors on the Quality of Life in Patients with Neurodegenerative Cerebellar Ataxias. Brain sciences. vol 14. issue 1. 2024-01-26. PMID:38275506.' |
we included a total of 107 patients with cerebellar degenerative ataxia. |
2024-01-26 |
2024-01-28 |
Not clear |