| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| B W LICHTENSTEIN, S A LEVINSO. Cortical cerebellar atrophy without ataxia; primary circumscribed variety. Journal of neuropathology and experimental neurology. vol 5. 2010-10-28. PMID:21010602. |
cortical cerebellar atrophy without ataxia; primary circumscribed variety. |
2010-10-28 |
2023-08-12 |
Not clear |
| A L Hopkins, J Clark. Episodic cerebellar dysfunction in a bichon frise: a canine case of episodic ataxia? The Journal of small animal practice. vol 51. issue 8. 2010-10-22. PMID:20536690. |
episodic cerebellar dysfunction in a bichon frise: a canine case of episodic ataxia? |
2010-10-22 |
2023-08-12 |
Not clear |
| Luis E Kolb, Zulfikar Arlier, Cengiz Yalcinkaya, Ali K Ozturk, Jennifer A Moliterno, Ozdem Erturk, Fatih Bayrakli, Baris Korkmaz, Michael L DiLuna, Katsuhito Yasuno, Kaya Bilguvar, Tayfun Ozcelik, Beyhan Tuysuz, Matthew W State, Murat Gune. Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophy. Neurogenetics. vol 11. issue 3. 2010-09-24. PMID:20082205. |
congenital ataxia with cerebellar hypoplasia is a heterogeneous group of disorders that presents with motor disability, hypotonia, incoordination, and impaired motor development. |
2010-09-24 |
2023-08-12 |
Not clear |
| Luis E Kolb, Zulfikar Arlier, Cengiz Yalcinkaya, Ali K Ozturk, Jennifer A Moliterno, Ozdem Erturk, Fatih Bayrakli, Baris Korkmaz, Michael L DiLuna, Katsuhito Yasuno, Kaya Bilguvar, Tayfun Ozcelik, Beyhan Tuysuz, Matthew W State, Murat Gune. Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophy. Neurogenetics. vol 11. issue 3. 2010-09-24. PMID:20082205. |
discovery of disease causing homozygous deletions in the present turkish family capable of maintaining bipedal movement exemplifies the phenotypic heterogeneity of vldlr-associated cerebellar hypoplasia and ataxia. |
2010-09-24 |
2023-08-12 |
Not clear |
| Xinjie Xu, Rajendra Kedlaya, Hitoshi Higuchi, Sakae Ikeda, Monica J Justice, Vijayasaradhi Setaluri, Akihiro Iked. Mutation in archain 1, a subunit of COPI coatomer complex, causes diluted coat color and Purkinje cell degeneration. PLoS genetics. vol 6. issue 5. 2010-09-13. PMID:20502676. |
nur17 mutant mice exhibit both coat-color dilution and ataxia due to purkinje cell degeneration in the cerebellum. |
2010-09-13 |
2023-08-12 |
mouse |
| Alexandra Dur. Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond. The Lancet. Neurology. vol 9. issue 9. 2010-09-13. PMID:20723845. |
autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond. |
2010-09-13 |
2023-08-12 |
Not clear |
| Alexandra Dur. Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond. The Lancet. Neurology. vol 9. issue 9. 2010-09-13. PMID:20723845. |
cerebellar ataxias with autosomal dominant transmission are rare, but identification of the associated genes has provided insight into the mechanisms that could underlie other forms of genetic or non-genetic ataxias. |
2010-09-13 |
2023-08-12 |
Not clear |
| Alexandra Dur. Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond. The Lancet. Neurology. vol 9. issue 9. 2010-09-13. PMID:20723845. |
the diversity of underlying mechanisms that give rise to the dominant cerebellar ataxias need to be taken into account to identify therapeutic targets. |
2010-09-13 |
2023-08-12 |
Not clear |
| Edward Zagha, Satoshi Manita, William N Ross, Bernardo Rud. Dendritic Kv3.3 potassium channels in cerebellar purkinje cells regulate generation and spatial dynamics of dendritic Ca2+ spikes. Journal of neurophysiology. vol 103. issue 6. 2010-09-09. PMID:20357073. |
moreover, mutations in kv3.3 cause movement disorders in mice and cerebellar atrophy and ataxia in humans, emphasizing the importance of understanding the role of these channels. |
2010-09-09 |
2023-08-12 |
mouse |
| William A Catterall, Franck Kalume, John C Oakle. NaV1.1 channels and epilepsy. The Journal of physiology. vol 588. issue Pt 11. 2010-08-27. PMID:20194124. |
similarly, the sodium currents and action potential firing are also impaired in the gabaergic purkinje neurons of the cerebellum, which is likely to contribute to ataxia. |
2010-08-27 |
2023-08-12 |
mouse |
| Stephanie Schorge, Joyce van de Leemput, Andrew Singleton, Henry Houlden, John Hard. Human ataxias: a genetic dissection of inositol triphosphate receptor (ITPR1)-dependent signaling. Trends in neurosciences. vol 33. issue 5. 2010-08-16. PMID:20226542. |
we propose that advances in the genetics of cerebellar ataxias suggest a rational hypothesis for how so many different genes lead to predominantly cerebellar defects. |
2010-08-16 |
2023-08-12 |
human |
| Stephanie Schorge, Joyce van de Leemput, Andrew Singleton, Henry Houlden, John Hard. Human ataxias: a genetic dissection of inositol triphosphate receptor (ITPR1)-dependent signaling. Trends in neurosciences. vol 33. issue 5. 2010-08-16. PMID:20226542. |
we argue that the unifying feature of many genes involved in cerebellar ataxias is their impact on the signaling protein itpr1 (inositiol 1,4,5-triphosphate receptor type 1), that underlies coincidence detection in purkinje cells and could play an important role in cerebellar coordination. |
2010-08-16 |
2023-08-12 |
human |
| Carl M Anderson, Keren Rabi, Scott E Lukas, Martin H Teiche. Cerebellar lingula size and experiential risk factors associated with high levels of alcohol and drug use in young adults. Cerebellum (London, England). vol 9. issue 2. 2010-08-12. PMID:19859774. |
previous studies have reported cerebellar abnormalities or static ataxia associated with risk for chronic use of alcohol and drugs. |
2010-08-12 |
2023-08-12 |
human |
| Joyce van de Leemput, Fabienne Wavrant-De Vrièze, Ian Rafferty, Jose M Bras, Paola Giunti, Elizabeth M C Fisher, John A Hardy, Andrew B Singleton, Henry Houlde. Sequencing analysis of the ITPR1 gene in a pure autosomal dominant spinocerebellar ataxia series. Movement disorders : official journal of the Movement Disorder Society. vol 25. issue 6. 2010-07-28. PMID:20437544. |
spinocerebellar ataxia type 15 and 16 (sca15/16) are autosomal dominant cerebellar ataxias that are slowly progressive with a predominantly pure ataxia phenotype (adca iii). |
2010-07-28 |
2023-08-12 |
Not clear |
| John J Sidtis, Stephen C Strother, Ansam Groshong, Ansam Naoum, David A Rottenberg, Christopher Gome. Longitudinal cerebral blood flow changes during speech in hereditary ataxia. Brain and language. vol 114. issue 1. 2010-07-19. PMID:20417959. |
with principal pathology involving the cerebellum, dysarthria is an early feature of many of the ataxias. |
2010-07-19 |
2023-08-12 |
human |
| An-Hsun Chou, Chia-Yang Chen, Si-Ying Chen, Wei-June Chen, Ying-Ling Chen, Yi-Shin Weng, Hung-Li Wan. Polyglutamine-expanded ataxin-7 causes cerebellar dysfunction by inducing transcriptional dysregulation. Neurochemistry international. vol 56. issue 2. 2010-07-08. PMID:19909779. |
ten to eleven-month-old ataxin-7-q52 mice displayed ataxic symptoms without prominent cerebellar neuronal death, suggesting that ataxin-7-q52 causes cerebellar malfunction and ataxia. |
2010-07-08 |
2023-08-12 |
mouse |
| An-Hsun Chou, Chia-Yang Chen, Si-Ying Chen, Wei-June Chen, Ying-Ling Chen, Yi-Shin Weng, Hung-Li Wan. Polyglutamine-expanded ataxin-7 causes cerebellar dysfunction by inducing transcriptional dysregulation. Neurochemistry international. vol 56. issue 2. 2010-07-08. PMID:19909779. |
our study suggests that polyglutamine-expanded ataxin-7-induced transcriptional dysregulation causes cerebellar dysfunction and ataxia. |
2010-07-08 |
2023-08-12 |
mouse |
| C K Csiza, A De Lahunta, F W Scott, J H Gillespi. Pathogenesis of Feline Panleukopenia Virus in Susceptible Newborn Kittens II. Pathology and Immunofluorescence. Infection and immunity. vol 3. issue 6. 2010-06-29. PMID:16558064. |
clinical signs of ataxia were not observed in the four kittens with cerebellar lesions sacrificed at 22 to 43 days of age. |
2010-06-29 |
2023-08-12 |
Not clear |
| C Worster-Drought, T R Hil. Ataxia of Cerebellar Type following Diphtheria. Proceedings of the Royal Society of Medicine. vol 24. issue 5. 2010-06-24. PMID:19988006. |
ataxia of cerebellar type following diphtheria. |
2010-06-24 |
2023-08-12 |
Not clear |
| Pia Irene Anna Rossi, Carlotta Maria Vaccari, Alessandra Terracciano, Laura Doria-Lamba, Sabrina Facchinetti, Manuela Priolo, Carmen Ayuso, Laura De Jorge, Stefania Gimelli, Filippo Maria Santorelli, Roberto Ravazzolo, Aldamaria Pulit. The metabotropic glutamate receptor 1, GRM1: evaluation as a candidate gene for inherited forms of cerebellar ataxia. Journal of neurology. vol 257. issue 4. 2010-06-23. PMID:19924463. |
as for other known forms of inherited ataxias, absence of mutations in grm1 seems to suggest a relatively low frequency in cerebellar ataxias. |
2010-06-23 |
2023-08-12 |
mouse |