| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Melanie D Mark, Jan Claudius Schwitalla, Michelle Groemmke, Stefan Herlitz. Keeping Our Calcium in Balance to Maintain Our Balance. Biochemical and biophysical research communications. vol 483. issue 4. 2017-06-06. PMID:27392710. |
although the genetic diversity and affected cellular pathways of hereditary ataxias are broad, one common theme amongst these genes is their effects on maintaining calcium balance in primarily the cerebellum. |
2017-06-06 |
2023-08-13 |
mouse |
| Alessandro Didonna, Puneet Opa. Advances in Sequencing Technologies for Understanding Hereditary Ataxias: A Review. JAMA neurology. vol 73. issue 12. 2017-05-29. PMID:27749953. |
the hereditary progressive ataxias comprise genetic disorders that affect the cerebellum and its connections. |
2017-05-29 |
2023-08-13 |
Not clear |
| M Hadjivassiliou, J Martindale, P Shanmugarajah, R A Grünewald, P G Sarrigiannis, N Beauchamp, K Garrard, R Warburton, D S Sanders, D Friend, S Duty, J Taylor, N Hoggar. Causes of progressive cerebellar ataxia: prospective evaluation of 1500 patients. Journal of neurology, neurosurgery, and psychiatry. vol 88. issue 4. 2017-05-17. PMID:27965395. |
cerebellar ataxias are the result of diverse disease processes that can be genetic or acquired. |
2017-05-17 |
2023-08-13 |
Not clear |
| Hiroshi Mitoma, Mario Manto, Christiane S Hamp. Pathogenic Roles of Glutamic Acid Decarboxylase 65 Autoantibodies in Cerebellar Ataxias. Journal of immunology research. vol 2017. 2017-05-10. PMID:28386570. |
pathogenic roles of glutamic acid decarboxylase 65 autoantibodies in cerebellar ataxias. |
2017-05-10 |
2023-08-13 |
mouse |
| Hiroshi Mitoma, Mario Manto, Christiane S Hamp. Pathogenic Roles of Glutamic Acid Decarboxylase 65 Autoantibodies in Cerebellar Ataxias. Journal of immunology research. vol 2017. 2017-05-10. PMID:28386570. |
reports suggesting a pathogenic role of autoantibodies directed against glutamic acid decarboxylase 65 (gad65abs) in cerebellar ataxias (cas) are reviewed, and debatable issues such as internalization of antibodies by neurons and roles of epitopes are discussed. |
2017-05-10 |
2023-08-13 |
mouse |
| Matthis Synofzik, Katrien Smets, Martial Mallaret, Daniela Di Bella, Constanze Gallenmüller, Jonathan Baets, Martin Schulze, Stefania Magri, Elisa Sarto, Mona Mustafa, Tine Deconinck, Tobias Haack, Stephan Züchner, Michael Gonzalez, Dagmar Timmann, Claudia Stendel, Thomas Klopstock, Alexandra Durr, Christine Tranchant, Marc Sturm, Wahiba Hamza, Lorenzo Nanetti, Caterina Mariotti, Michel Koenig, Ludger Schöls, Rebecca Schüle, Peter de Jonghe, Mathieu Anheim, Franco Taroni, Peter Baue. SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study. Brain : a journal of neurology. vol 139. issue Pt 5. 2017-05-08. PMID:27086870. |
mutations in the synaptic nuclear envelope protein 1 (syne1) gene have been reported to cause a relatively pure, slowly progressive cerebellar recessive ataxia mostly identified in quebec, canada. |
2017-05-08 |
2023-08-13 |
human |
| Matthis Synofzik, Katrien Smets, Martial Mallaret, Daniela Di Bella, Constanze Gallenmüller, Jonathan Baets, Martin Schulze, Stefania Magri, Elisa Sarto, Mona Mustafa, Tine Deconinck, Tobias Haack, Stephan Züchner, Michael Gonzalez, Dagmar Timmann, Claudia Stendel, Thomas Klopstock, Alexandra Durr, Christine Tranchant, Marc Sturm, Wahiba Hamza, Lorenzo Nanetti, Caterina Mariotti, Michel Koenig, Ludger Schöls, Rebecca Schüle, Peter de Jonghe, Mathieu Anheim, Franco Taroni, Peter Baue. SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study. Brain : a journal of neurology. vol 139. issue Pt 5. 2017-05-08. PMID:27086870. |
our findings, which present the largest systematic series of syne1 patients and mutations outside canada, revise the view that syne1 ataxia causes mainly a relatively pure cerebellar recessive ataxia and that it is largely limited to quebec. |
2017-05-08 |
2023-08-13 |
human |
| Roberto E Sica, Roberto Caccuri, Cecilia Quarracino, Francisco Capan. Are astrocytes executive cells within the central nervous system? Arquivos de neuro-psiquiatria. vol 74. issue 8. 2017-05-02. PMID:27556379. |
on the other hand, experimental findings and human observations signal that some of the primary degenerative diseases of the cns, like frontotemporal dementia, parkinson's disease, alzheimer's dementia, huntington's dementia, primary cerebellar ataxias and amyotrophic lateral sclerosis, all of which affect the human species exclusively, may be due to astroglial dysfunction. |
2017-05-02 |
2023-08-13 |
human |
| Martial Mallaret, Mathilde Renaud, Claire Redin, Nathalie Drouot, Jean Muller, Francois Severac, Jean Louis Mandel, Wahiba Hamza, Traki Benhassine, Lamia Ali-Pacha, Meriem Tazir, Alexandra Durr, Marie-Lorraine Monin, Cyril Mignot, Perrine Charles, Lionel Van Maldergem, Ludivine Chamard, Christel Thauvin-Robinet, Vincent Laugel, Lydie Burglen, Patrick Calvas, Marie-Céline Fleury, Christine Tranchant, Mathieu Anheim, Michel Koeni. Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases. Journal of neurology. vol 263. issue 7. 2017-04-07. PMID:27142713. |
validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on ngs identified cases. |
2017-04-07 |
2023-08-13 |
Not clear |
| Martial Mallaret, Mathilde Renaud, Claire Redin, Nathalie Drouot, Jean Muller, Francois Severac, Jean Louis Mandel, Wahiba Hamza, Traki Benhassine, Lamia Ali-Pacha, Meriem Tazir, Alexandra Durr, Marie-Lorraine Monin, Cyril Mignot, Perrine Charles, Lionel Van Maldergem, Ludivine Chamard, Christel Thauvin-Robinet, Vincent Laugel, Lydie Burglen, Patrick Calvas, Marie-Céline Fleury, Christine Tranchant, Mathieu Anheim, Michel Koeni. Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases. Journal of neurology. vol 263. issue 7. 2017-04-07. PMID:27142713. |
establishing a molecular diagnosis of autosomal recessive cerebellar ataxias (arca) is challenging due to phenotype and genotype heterogeneity. |
2017-04-07 |
2023-08-13 |
Not clear |
| Nicolas C Hoch, Hana Hanzlikova, Stuart L Rulten, Martine Tétreault, Emilia Komulainen, Limei Ju, Peter Hornyak, Zhihong Zeng, William Gittens, Stephanie A Rey, Kevin Staras, Grazia M S Mancini, Peter J McKinnon, Zhao-Qi Wang, Justin D Wagner, Grace Yoon, Keith W Caldecot. XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia. Nature. vol 541. issue 7635. 2017-04-07. PMID:28002403. |
indeed, remarkably, genetic deletion of parp1 rescued normal cerebellar adp-ribose levels and reduced the loss of cerebellar neurons and ataxia in xrcc1-defective mice, identifying a molecular mechanism by which endogenous single-strand breaks trigger neuropathology. |
2017-04-07 |
2023-08-13 |
mouse |
| Sun-Uk Lee, Hyo-Jung Kim, Jeong-Jin Park, Ji-Soo Ki. Internuclear ophthalmoplegia plus ataxia indicates a dorsomedial tegmental lesion at the pontomesencephalic junction. Journal of neurology. vol 263. issue 5. 2017-04-04. PMID:26995360. |
ataxia is often observed in lesions involving the cerebellum or the fibers to and from it anywhere in the brainstem. |
2017-04-04 |
2023-08-13 |
Not clear |
| Yuya Aotsuka, Akiyuki Uzawa, Kazutaka Nishimura, Kazuho Kojima, Mika Yamaguchi, Takahiro Makino, Kazuo Nakamichi, Masayuki Saijo, Satoshi Kuwabar. Progressive Multifocal Leukoencephalopathy Localized in the Cerebellum and Brainstem Associated with Idiopathic CD4(+) T Lymphocytopenia. Internal medicine (Tokyo, Japan). vol 55. issue 12. 2017-03-27. PMID:27301521. |
clinicians should consider pml and icl in the differential diagnosis if the patient develops progressive ataxia and a crescent-shaped cerebellar lesion on mri. |
2017-03-27 |
2023-08-13 |
Not clear |
| Andrea Rossi, Carola Martinetti, Giovanni Morana, Mariasavina Severino, Domenico Tortor. Neuroimaging of Infectious and Inflammatory Diseases of the Pediatric Cerebellum and Brainstem. Neuroimaging clinics of North America. vol 26. issue 3. 2017-03-17. PMID:27423804. |
viral involvement is the most common cause and ranges from acute postinfectious ataxia to acute cerebellitis mr imaging plays a crucial role in the evaluation of patients suspected of harboring inflammatory-infectious involvement of the cerebellum and brainstem. |
2017-03-17 |
2023-08-13 |
Not clear |
| Luca Leonardi, Maria Gabriella Aceto, Christian Marcotulli, Giuseppe Arcuria, Mariano Serrao, Francesco Pierelli, Paolo Paone, Alessandro Filla, Alessandro Roca, Carlo Casal. A wearable proprioceptive stabilizer for rehabilitation of limb and gait ataxia in hereditary cerebellar ataxias: a pilot open-labeled study. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. vol 38. issue 3. 2017-03-15. PMID:28039539. |
a wearable proprioceptive stabilizer for rehabilitation of limb and gait ataxia in hereditary cerebellar ataxias: a pilot open-labeled study. |
2017-03-15 |
2023-08-13 |
Not clear |
| Luca Leonardi, Maria Gabriella Aceto, Christian Marcotulli, Giuseppe Arcuria, Mariano Serrao, Francesco Pierelli, Paolo Paone, Alessandro Filla, Alessandro Roca, Carlo Casal. A wearable proprioceptive stabilizer for rehabilitation of limb and gait ataxia in hereditary cerebellar ataxias: a pilot open-labeled study. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. vol 38. issue 3. 2017-03-15. PMID:28039539. |
the aim of this pilot study is to test the feasibility and effectiveness of a wearable proprioceptive stabilizer that emits focal mechanical vibrations in patients affected by hereditary cerebellar ataxias. |
2017-03-15 |
2023-08-13 |
Not clear |
| Luca Leonardi, Maria Gabriella Aceto, Christian Marcotulli, Giuseppe Arcuria, Mariano Serrao, Francesco Pierelli, Paolo Paone, Alessandro Filla, Alessandro Roca, Carlo Casal. A wearable proprioceptive stabilizer for rehabilitation of limb and gait ataxia in hereditary cerebellar ataxias: a pilot open-labeled study. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. vol 38. issue 3. 2017-03-15. PMID:28039539. |
this small open-labeled study shows preliminary evidence that focal mechanical vibration exerted by a wearable proprioceptive stabilizer might improve limb and gait ataxia in patients affected by hereditary cerebellar ataxias. |
2017-03-15 |
2023-08-13 |
Not clear |
| Giulia Perucca, Nicolas Leboucq, Agathe Roubertie, François Rivier, Nicolas Menjot, Consuelo Valentini, Alain Bonaf. Role of neuroimaging in the diagnosis of hereditary cerebellar ataxias in childhood. Journal of neuroradiology = Journal de neuroradiologie. vol 43. issue 3. 2017-03-08. PMID:27126632. |
role of neuroimaging in the diagnosis of hereditary cerebellar ataxias in childhood. |
2017-03-08 |
2023-08-13 |
Not clear |
| Gerson da Silva Carvalho, Jonas Alex Morales Saute, Clarissa Branco Haas, Vitor Rocco Torrez, Andressa Wigner Brochier, Gabriele Nunes Souza, Gabriel Vasata Furtado, Tailise Gheno, Aline Russo, Thais Lampert Monte, Artur Schumacher-Schuh, Rui D'Avila, Karina Carvalho Donis, Raphael Machado Castilhos, Diogo Onofre Souza, Maria Luiza Saraiva-Pereira, Vanessa Leotti Torman, Suzi Camey, Luis Valmor Portela, Laura Bannach Jardi. Cytokines in Machado Joseph Disease/Spinocerebellar Ataxia 3. Cerebellum (London, England). vol 15. issue 4. 2017-03-06. PMID:26395908. |
age at onset, disease duration, and clinical scales scale for the assessment and rating of ataxia (sara), neurological examination score for spinocerebellar ataxias (nessca), sca functional index (scafi), and composite cerebellar functional score (ccfs) were obtained from the symptomatic carriers. |
2017-03-06 |
2023-08-13 |
Not clear |
| Joaquín Martí, María C Santa-Cruz, José P Hervás, Shirley A Bayer, Sandra Villega. Cerebellar cortex development in the weaver condition presents regional and age-dependent abnormalities without differences in Purkinje cells neurogenesis. Acta neurobiologiae experimentalis. vol 76. issue 1. 2017-03-03. PMID:27102918. |
the extrapolation of our results to patients affected with cerebellar ataxias suggests that all cerebellar cortex lobes are affected with several age-dependent alterations in cytoarchitectonics. |
2017-03-03 |
2023-08-13 |
mouse |