| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Sophie Tezenas du Montcel, Perrine Charles, Pascale Ribai, Cyril Goizet, Alice Le Bayon, Pierre Labauge, Lucie Guyant-Maréchal, Sylvie Forlani, Celine Jauffret, Nadia Vandenberghe, Karine N'guyen, Isabelle Le Ber, David Devos, Carlo-Maria Vincitorio, Mario-Ubaldo Manto, François Tison, Didier Hannequin, Merle Ruberg, Alexis Brice, Alexandra Dur. Composite cerebellar functional severity score: validation of a quantitative score of cerebellar impairment. Brain : a journal of neurology. vol 131. issue Pt 5. 2008-06-16. PMID:18378516. |
reliable and easy to perform functional scales are a prerequisite for future therapeutic trials in cerebellar ataxias. |
2008-06-16 |
2023-08-12 |
Not clear |
| Aya Ito-Ishida, Eriko Miura, Kyoichi Emi, Keiko Matsuda, Takatoshi Iijima, Tetsuro Kondo, Kazuhisa Kohda, Masahiko Watanabe, Michisuke Yuzak. Cbln1 regulates rapid formation and maintenance of excitatory synapses in mature cerebellar Purkinje cells in vitro and in vivo. The Journal of neuroscience : the official journal of the Society for Neuroscience. vol 28. issue 23. 2008-06-16. PMID:18524896. |
in the cerebellum, cbln1 is predominantly produced and secreted from granule cells; cbln1-null mice show ataxia and a severe reduction in the number of synapses between purkinje cells and parallel fibers (pfs), the axon bundle of granule cells. |
2008-06-16 |
2023-08-12 |
mouse |
| Bhupinder Bawa, Louise C Abbot. Analysis of calcium ion homeostasis and mitochondrial function in cerebellar granule cells of adult CaV 2.1 calcium ion channel mutant mice. Neurotoxicity research. vol 13. issue 1. 2008-06-09. PMID:18367436. |
cav 2.1 voltage-gated calcium channels (vgcc) are highly expressed by cerebellar neurons, and their dysfunction is linked to human disorders including familial hemiplegic migraine, episodic ataxia type 2 and spinocerebellar ataxia type 6. |
2008-06-09 |
2023-08-12 |
mouse |
| Sarah L Cuddihy, Sameh S Ali, Erik S Musiek, Jacinta Lucero, Sarah J Kopp, Jason D Morrow, Laura L Duga. Prolonged alpha-tocopherol deficiency decreases oxidative stress and unmasks alpha-tocopherol-dependent regulation of mitochondrial function in the brain. The Journal of biological chemistry. vol 283. issue 11. 2008-05-20. PMID:18180306. |
deficiency (whether dietary or genetic) results in primarily nervous system pathology, including cerebellar neurodegeneration and progressive ataxia (abnormal gait). |
2008-05-20 |
2023-08-12 |
mouse |
| Juergen J Marx, Gian D Iannetti, Frank Thömke, Sabine Fitzek, Francesca Galeotti, Andrea Truini, Peter Stoeter, Marianne Dieterich, Hanns C Hopf, Giorgio Crucc. Topodiagnostic implications of hemiataxia: an MRI-based brainstem mapping analysis. NeuroImage. vol 39. issue 4. 2008-05-12. PMID:18083566. |
(3) finally, bilateral ataxia probably reflects a lesion of cerebellar outflow on a central, rostral pontomesencephalic level. |
2008-05-12 |
2023-08-12 |
human |
| Raquel C Gardner, Jeremy D Schmahman. Ataxia and cerebellar atrophy--a novel manifestation of neuro-Behçet disease? Movement disorders : official journal of the Movement Disorder Society. vol 23. issue 2. 2008-05-08. PMID:18044705. |
ataxia and cerebellar atrophy--a novel manifestation of neuro-behçet disease? |
2008-05-08 |
2023-08-12 |
Not clear |
| Mehmet Turgu. Cerebellar mutism. Journal of neurosurgery. Pediatrics. vol 1. issue 3. 2008-05-08. PMID:18352776. |
cerebellar mutism syndrome (cms) is a unique postoperative syndrome typically arising 1 to 2 days after resection of a midline posterior fossa tumor; it consists of diminished speech progressing to mutism, emotional lability, hypotonia, and ataxia. |
2008-05-08 |
2023-08-12 |
Not clear |
| Paschalis Nicolaou, Anthi Georghiou, Christina Votsi, Lefkos T Middleton, Eleni Zamba-Papanicolaou, Kyproula Christodoulo. A novel c.5308_5311delGAGA mutation in Senataxin in a Cypriot family with an autosomal recessive cerebellar ataxia. BMC medical genetics. vol 9. 2008-04-25. PMID:18405395. |
senataxin (chromosome 9q34) was recently identified as the causative gene for an autosomal recessive form of ataxia (arca), termed as ataxia with oculomotor apraxia, type 2 (aoa2) and characterized by generalized incoordination, cerebellar atrophy, peripheral neuropathy, "oculomotor apraxia" and increased alpha-fetoprotein (afp). |
2008-04-25 |
2023-08-12 |
Not clear |
| Tsugunobu Andoh, Hiroyuki Kishi, Kazumi Motoki, Kenji Nakanishi, Yasushi Kuraishi, Atsushi Muraguch. Protective effect of IL-18 on kainate- and IL-1 beta-induced cerebellar ataxia in mice. Journal of immunology (Baltimore, Md. : 1950). vol 180. issue 4. 2008-04-17. PMID:18250441. |
we show that systemic administration of kainate activated il-1beta and il-18 predominantly in the cerebellum of mice, which was accompanied with ataxia. |
2008-04-17 |
2023-08-12 |
mouse |
| D Ince Gunal, K Agan, N Afsar, D Borucu, O U. The effect of piracetam on ataxia: clinical observations in a group of autosomal dominant cerebellar ataxia patients. Journal of clinical pharmacy and therapeutics. vol 33. issue 2. 2008-04-08. PMID:18315783. |
autosomal dominant cerebellar ataxias are clinically and genetically heterogeneous neurodegenerative disorders. |
2008-04-08 |
2023-08-12 |
Not clear |
| Natalia V Gounko, Albert Gramsbergen, Johannes J L van der Wan. The glutamate receptor delta 2 in relation to cerebellar development and plasticity. Neuroscience and biobehavioral reviews. vol 31. issue 8. 2008-03-14. PMID:17604104. |
furthermore, glurdelta2 knockout mice show ataxia and impaired motor coordination, suggesting that the presence of glurdelta2 plays an important role in controlling cerebellar functioning. |
2008-03-14 |
2023-08-12 |
mouse |
| C Zühlke, V Bernard, G Gillessen-Kaesbac. Investigation of recessive ataxia loci in patients with young age of onset. Neuropediatrics. vol 38. issue 4. 2008-03-14. PMID:18058631. |
autosomal recessive cerebellar ataxias are a phenotypically and genetically heterogeneous group of diseases. |
2008-03-14 |
2023-08-12 |
Not clear |
| M S Zaki, A Abdel-Aleem, G Abdel-Salam, S E Marsh, J L Silhavy, A J Barkovich, M E Ross, S N Saleem, W B Dobyns, J G Gleeso. The molar tooth sign: a new Joubert syndrome and related cerebellar disorders classification system tested in Egyptian families. Neurology. vol 70. issue 7. 2008-03-06. PMID:18268248. |
joubert syndrome and related cerebellar disorders (jsrd) are a group of recessive congenital ataxia conditions usually showing neonatal hypotonia, dysregulated breathing rhythms, oculomotor apraxia, and mental retardation. |
2008-03-06 |
2023-08-12 |
Not clear |
| Yaniv Assaf, Ronit Galron, Itai Shapira, Anat Nitzan, Tamar Blumenfeld-Katzir, Arieh S Solomon, Vered Holdengreber, Zhao-Qi Wang, Yosef Shiloh, Ari Barzila. MRI evidence of white matter damage in a mouse model of Nijmegen breakage syndrome. Experimental neurology. vol 209. issue 1. 2008-03-05. PMID:17976584. |
conditional disruption of the murine ortholog of nbs1, nbn, in the cns of mice was previously reported to cause microcephaly, severe cerebellar atrophy and ataxia. |
2008-03-05 |
2023-08-12 |
mouse |
| S Vermeer, H P H Kremer, Q H Leijten, H Scheffer, G Matthijs, R A Wevers, N A V M Knoers, E Morava, D J Lefebe. Cerebellar ataxia and congenital disorder of glycosylation Ia (CDG-Ia) with normal routine CDG screening. Journal of neurology. vol 254. issue 10. 2008-02-29. PMID:17694350. |
here, we describe two cdg-ia patients,who presented with mainly ataxia and cerebellar hypoplasia and with a normal or only slightly abnormal transferrin isofocusing result. |
2008-02-29 |
2023-08-12 |
Not clear |
| S Vermeer, H P H Kremer, Q H Leijten, H Scheffer, G Matthijs, R A Wevers, N A V M Knoers, E Morava, D J Lefebe. Cerebellar ataxia and congenital disorder of glycosylation Ia (CDG-Ia) with normal routine CDG screening. Journal of neurology. vol 254. issue 10. 2008-02-29. PMID:17694350. |
therefore, in patients presenting with apparently recessive inherited ataxia caused by cerebellar hypoplasia and an unknown genetic aetiology after proper diagnostic work-up, we recommend the measurement of phosphomannomutase activity when transferrin isofocusing is normal or inconclusive. |
2008-02-29 |
2023-08-12 |
Not clear |
| Wataru Kakegawa, Taisuke Miyazaki, Kyoichi Emi, Keiko Matsuda, Kazuhisa Kohda, Junko Motohashi, Masayoshi Mishina, Shigenori Kawahara, Masahiko Watanabe, Michisuke Yuzak. Differential regulation of synaptic plasticity and cerebellar motor learning by the C-terminal PDZ-binding motif of GluRdelta2. The Journal of neuroscience : the official journal of the Society for Neuroscience. vol 28. issue 6. 2008-02-25. PMID:18256267. |
the delta2 glutamate receptor (glurdelta2) is predominantly expressed in purkinje cells and plays crucial roles in cerebellar functions: glurdelta2-/- mice display ataxia and impaired motor learning. |
2008-02-25 |
2023-08-12 |
mouse |
| Masashiro Sugawara, Chizu Wada, Satoshi Okawa, Michio Kobayashi, Masato Sageshima, Tsuyoshi Imota, Itaru Toyoshim. Purkinje cell loss in the cerebellar flocculus in patients with ataxia with ocular motor apraxia type 1/early-onset ataxia with ocular motor apraxia and hypoalbuminemia. European neurology. vol 59. issue 1-2. 2008-02-05. PMID:17917453. |
purkinje cell loss in the cerebellar flocculus in patients with ataxia with ocular motor apraxia type 1/early-onset ataxia with ocular motor apraxia and hypoalbuminemia. |
2008-02-05 |
2023-08-12 |
Not clear |
| Beate Schoch, Jens Peter Regel, Markus Frings, Marcus Gerwig, Matthias Maschke, Markus Neuhäuser, Dagmar Timman. Reliability and validity of ICARS in focal cerebellar lesions. Movement disorders : official journal of the Movement Disorder Society. vol 22. issue 15. 2008-01-31. PMID:17712842. |
total icars score seems to be a useful and valid measurement to describe the time course of ataxia in patients with focal and degenerative disorders affecting primarily the cerebellum. |
2008-01-31 |
2023-08-12 |
Not clear |
| Christel Depienne, Giovanni Stevanin, Alexis Brice, Alexandra Dur. Hereditary spastic paraplegias: an update. Current opinion in neurology. vol 20. issue 6. 2008-01-11. PMID:17992088. |
the recent identification of new genes and loci, however, has blurred the distinction between hereditary spastic paraplegias and other entities, such as cerebellar ataxias or leucodystrophies. |
2008-01-11 |
2023-08-12 |
Not clear |