| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Jonas Graf, Margit Weise, Tanja Guthoff, Carolin Balloff, Marcia Gasis, Heike Link, Sebastian Küchlin, Wolf Lagrèze, Sven G Meuth, Orhan Aktas, Philipp Albrech. Heterophoria in multiple sclerosis patients: a proof of principle cross-sectional study. Frontiers in immunology. vol 15. 2024-09-03. PMID:39224585. |
the pathophysiology of multiple sclerosis (ms) involves inflammatory neurodegeneration in the brainstem, cerebellum, and retina. |
2024-09-03 |
2024-09-05 |
Not clear |
| Hélène Cwerman-Thibault, Vassilissa Malko-Baverel, Gwendoline Le Guilloux, Isabel Torres-Cuevas, Edward Ratcliffe, Djmila Mouri, Virginie Mignon, Bruno Saubaméa, Odile Boespflug-Tanguy, Pierre Gressens, Marisol Corral-Debrinsk. Harlequin mice exhibit cognitive impairment, severe loss of Purkinje cells and a compromised bioenergetic status due to the absence of Apoptosis Inducing Factor. Biochimica et biophysica acta. Molecular basis of disease. 2024-06-19. PMID:38897257. |
these mice exhibit progressive degeneration of the retina, optic nerve, cerebellum, and cortical regions leading to irremediable blindness and ataxia, reminiscent of what is observed in patients suffering from mitochondrial diseases. |
2024-06-19 |
2024-06-22 |
mouse |
| Joseph Matthew Holden, Lauren Katie Wareham, David John Calkin. Morphological and electrophysiological characterization of a novel displaced astrocyte in the mouse retina. Glia. 2024-04-09. PMID:38591270. |
this diversity leads to tissue-specific specialization where morphology is adapted to the surrounding neuronal circuitry, as seen in bergman glia of the cerebellum and müller glia of the retina. |
2024-04-09 |
2024-04-11 |
mouse |
| Anna Niewiadomska-Cimicka, Antoine Hache, Stéphanie Le Gras, Céline Keime, Tao Ye, Aurelie Eisenmann, Imen Harichane, Michel J Roux, Nadia Messaddeq, Emmanuelle Clérin, Thierry Léveillard, Yvon Trottie. Polyglutamine-expanded ATXN7 alters a specific epigenetic signature underlying photoreceptor identity gene expression in SCA7 mouse retinopathy. Journal of biomedical science. vol 29. issue 1. 2022-12-20. PMID:36539812. |
spinocerebellar ataxia type 7 (sca7) is a neurodegenerative disorder that primarily affects the cerebellum and retina. |
2022-12-20 |
2023-08-14 |
mouse |
| William Miller, Charles Lewis Humphrey Pruett, William Stone, Cindy Eide, Megan Riddle, Courtney Popp, Matthew Yousefzadeh, Christopher Lees, Davis Seelig, Elizabeth Thompson, Harry Orr, Laura Niedernhofer, Jakub Tola. Accumulation of senescence observed in spinocerebellar ataxia type 7 mouse model. PloS one. vol 17. issue 10. 2022-10-17. PMID:36251631. |
sca7 predominantly causes a loss of photoreceptors in the retina and purkinje cells of the cerebellum. |
2022-10-17 |
2023-08-14 |
mouse |
| Orlando De Jesus, Julio Rosado-Philipp. Spinal leptomeningeal hemangioblastomatosis occurring without craniospinal surgery in von Hippel-Lindau disease. BMJ case reports. vol 15. issue 8. 2022-08-29. PMID:36038156. |
we present a patient with vhl with several hbs at the brainstem, cerebellum, pituitary stalk and retina who developed spinal hemangioblastomatosis without previous craniospinal surgery. |
2022-08-29 |
2023-08-14 |
Not clear |
| Hongtao Zh. Structure and Mechanism of Glycine Receptor Elucidated by Cryo-Electron Microscopy. Frontiers in pharmacology. vol 13. 2022-08-26. PMID:36016557. |
glyrs are found in the central nervous system including the spinal cord, brain stem, and cerebellum, as well as in the retina, sperm, macrophages, hippocampus, cochlea, and liver. |
2022-08-26 |
2023-08-14 |
Not clear |
| A Lee, S Klinkradt, P A McCombe, D V Po. Cloning of a new form of EAAT2/GLT-1 from human and rodent brains. Neuroscience letters. 2022-04-19. PMID:35439550. |
rt-pcr amplification using glt-1d specific primers confirmed expression of message in all brain regions examined (forebrain, midbrain, hindbrain and cerebellum) as well as spinal cord, astrocyte cultures, retina and peripheral tissues (liver, testis, small intestine and lung). |
2022-04-19 |
2023-08-13 |
human |
| Glen E Kisby, Peter S Spence. Genotoxic Damage During Brain Development Presages Prototypical Neurodegenerative Disease. Frontiers in neuroscience. vol 15. 2021-12-20. PMID:34924930. |
the principal cycad genotoxin, methylazoxymethanol (mam), forms reactive carbon-centered ions that alkylate nucleic acids in fetal rodent brain and, depending on the timing of systemic administration, induces persistent developmental abnormalities of the cortex, hippocampus, cerebellum, and retina. |
2021-12-20 |
2023-08-13 |
human |
| Glen E Kisby, Peter S Spence. Genotoxic Damage During Brain Development Presages Prototypical Neurodegenerative Disease. Frontiers in neuroscience. vol 15. 2021-12-20. PMID:34924930. |
while studies of migrants to and from communities impacted by als/pdc indicate the degenerative brain disorder may be acquired in juvenile and adult life, a proportion of indigenous cases shows neurodevelopmental aberrations in the cerebellum and retina consistent with mam exposure |
2021-12-20 |
2023-08-13 |
human |
| Tsubasa Itoh, Shinsuke Inoue, Xiaoding Sun, Ryo Kusuda, Masahiko Hibi, Takashi Shimiz. Cfdp1 controls the cell cycle and neural differentiation in the zebrafish cerebellum and retina. Developmental dynamics : an official publication of the American Association of Anatomists. vol 250. issue 11. 2021-11-02. PMID:33987914. |
cfdp1 controls the cell cycle and neural differentiation in the zebrafish cerebellum and retina. |
2021-11-02 |
2023-08-13 |
zebrafish |
| Fatima Zahra Bouzid, Maria Mansouri, Chaikhy Abdelaziz, Nisrine Louhab, Sablonniere Bernard, Isabelle Strubi-Vuillaume, Kenza Dafir, Nisrine Aboussai. Spinocerebellar ataxia Type 7: clinical and genetic study of a new Moroccan family (case report). The Pan African medical journal. vol 38. 2021-05-25. PMID:33995769. |
the cag repeat expansion in the ataxin-7 gene (atxn7) causes spinocerebellar ataxia type 7 - a mutation that results in the degeneration of the brain stem cells, retina and cerebellum. |
2021-05-25 |
2023-08-13 |
Not clear |
| Patrick R Blackburn, Matthew J Schultz, Carrie A Lahner, Dong Li, Elizabeth Bhoj, Laura J Fisher, Deborah L Renaud, Amy Kenney, Niema Ibrahim, Mais Hashem, Mohammed Zain Seidahmed, Linda Hasadsri, Samantha A Schrier Vergano, Fowzan S Alkuraya, Brendan C Lanphe. Expanding the clinical and phenotypic heterogeneity associated with biallelic variants in ACO2. Annals of clinical and translational neurology. vol 7. issue 6. 2021-04-19. PMID:32519519. |
homozygous pathogenic missense variants in the aco2 gene were initially associated with infantile degeneration of the cerebrum, cerebellum, and retina, resulting in profound intellectual and developmental disability and early death. |
2021-04-19 |
2023-08-13 |
Not clear |
| Anna Niewiadomska-Cimicka, Yvon Trottie. Molecular Targets and Therapeutic Strategies in Spinocerebellar Ataxia Type 7. Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics. vol 16. issue 4. 2020-08-24. PMID:31432449. |
spinocerebellar ataxia type 7 (sca7) is a rare autosomal dominant neurodegenerative disorder characterized by progressive neuronal loss in the cerebellum, brainstem, and retina, leading to cerebellar ataxia and blindness as major symptoms. |
2020-08-24 |
2023-08-13 |
Not clear |
| Malek Chouchane, Marcos R Cost. Instructing neuronal identity during CNS development and astroglial-lineage reprogramming: Roles of NEUROG2 and ASCL1. Brain research. vol 1705. 2020-03-02. PMID:29510143. |
in this review, we discuss the contribution of the proneural genes neurogenin2 (neurog2) and achaete-scute homolog 1 (ascl1) for the specification of neuronal phenotypes in the developing neocortex, cerebellum and retina. |
2020-03-02 |
2023-08-13 |
Not clear |
| Veerle M Darra. The Role of Maternal Thyroid Hormones in Avian Embryonic Development. Frontiers in endocrinology. vol 10. 2020-02-25. PMID:30800099. |
knockdown of the specific th transporter monocarboxylate transporter 8 at early stages in chicken cerebellum, optic tectum, or retina allowed to reduce local th availability, interfering with gene expression and confirming that development of the central nervous system (cns) is highly dependent on maternal ths. |
2020-02-25 |
2023-08-13 |
chicken |
| Aseel El Hajj, Frances T Yen, Thierry Oster, Catherine Malaplate, Lynn Pauron, Catherine Corbier, Marie-Claire Lanhers, Thomas Claudepierr. Age-related changes in regiospecific expression of Lipolysis Stimulated Receptor (LSR) in mice brain. PloS one. vol 14. issue 6. 2020-02-18. PMID:31233547. |
at the rna level, the hippocampus, hypothalamus, cerebellum, and olfactory bulb, all showed high levels of total lsr compared to whole brain tissues, whereas at the protein level, only the hypothalamus, olfactory bulb, and retina showed the highest levels of total lsr. |
2020-02-18 |
2023-08-13 |
mouse |
| Pietro B Azevedo, Anastácia G Rocha, Leda M N Keim, Daniel Lavinsky, Gabriel V Furtado, Eduardo P de Mattos, Fernando R Vargas, Vanessa B Leotti, Maria-Luiza Saraiva-Pereira, Laura B Jardi. Ophthalmological and Neurologic Manifestations in Pre-clinical and Clinical Phases of Spinocerebellar Ataxia Type 7. Cerebellum (London, England). vol 18. issue 3. 2019-12-06. PMID:30637674. |
spinocerebellar ataxia type 7 (sca7) is a polyglutamine disease that progressively affects the cerebellum, brainstem, and retina. |
2019-12-06 |
2023-08-13 |
human |
| Mariacarmela Allocca, Joshua J Corrigan, Kimberly R Fake, Jennifer A Calvo, Leona D Samso. PARP inhibitors protect against sex- and AAG-dependent alkylation-induced neural degeneration. Oncotarget. vol 8. issue 40. 2019-11-20. PMID:28978150. |
mpg) can mediate alkylation-induced cytotoxicity in specific cells in the retina and cerebellum of male mice. |
2019-11-20 |
2023-08-13 |
mouse |
| Cecile Lebon, Francine Behar-Cohen, Alicia Torrigli. Cell Death Mechanisms in a Mouse Model of Retinal Degeneration in Spinocerebellar Ataxia 7. Neuroscience. vol 400. 2019-06-21. PMID:30625334. |
spino-cerebellar ataxia type 7 (sca7) is a polyglutamine (polyq) disorder characterized by neurodegeneration of the brain, cerebellum, and retina caused by a polyglutamine expansion in ataxin7. |
2019-06-21 |
2023-08-13 |
mouse |