| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Roy V Sillitoe, Richard Hawke. Whole-mount immunohistochemistry: a high-throughput screen for patterning defects in the mouse cerebellum. The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society. vol 50. issue 2. 2002-03-19. PMID:11799142. |
cerebellar defects are likely to be identified often because they typically result in ataxia. |
2002-03-19 |
2023-08-12 |
mouse |
| A Autret, B Lucas, K Mondon, C Hommet, P Corcia, D Saudeau, B de Toffo. Sleep and brain lesions: a critical review of the literature and additional new cases. Neurophysiologie clinique = Clinical neurophysiology. vol 31. issue 6. 2002-02-22. PMID:11810986. |
several unpublished cases are presented: one case of pseudohypersomnia due to a bilateral thalamic infarct and corrected by modafinil, four probable late-onset autosomal recessive cerebellar ataxias without sleep pattern anomalies, six cases of fronto-temporal dementia with strong reduction in total sleep time and rems percentage on the first polysomnographic night, one case of periodic hypersomnia associated with a rathke's cleft cyst and four cases of suspected symptomatic narcolepsy with a dr16-dq5 haplotype, three of which were post-traumatic without mri anomalies, and one associated with multiple sclerosis exhibiting pontine hyper signals on mri. |
2002-02-22 |
2023-08-12 |
Not clear |
| S E Holmes, E O Hearn, C A Ross, R L Margoli. SCA12: an unusual mutation leads to an unusual spinocerebellar ataxia. Brain research bulletin. vol 56. issue 3-4. 2002-02-07. PMID:11719278. |
the phenotype typically begins with tremor in the fourth decade, progressing to include ataxia and other cerebellar and cortical signs. |
2002-02-07 |
2023-08-12 |
Not clear |
| M D Kopelman, L J Reed, P Marsden, A R Mayes, E Jaldow, H Laing, C Isaa. Amnesic syndrome and severe ataxia following the recreational use of 3,4-methylene-dioxymethamphetamine (MDMA, 'ecstasy') and other substances. Neurocase. vol 7. issue 5. 2002-02-04. PMID:11744784. |
magnetic resonance imaging and quantified positron emission tomography investigations have revealed: (i) severe cerebellar atrophy and hypometabolism accounting for the ataxia and dysarthria; (ii) thalamic, retrosplenial and left medial temporal hypometabolism to which the anterograde amnesia can be attributed; and (iii) some degree of fronto-temporal-parietal hypometabolism, possibly accounting for the cognitive slowness. |
2002-02-04 |
2023-08-12 |
Not clear |
| I Kohira, H Ujike, T Katsu, Y Ninomiya, K Ohash. [A case of spinocerebellar ataxia type 6 with hypochondriasis and severe parkinsonism]. No to shinkei = Brain and nerve. vol 53. issue 12. 2002-01-29. PMID:11806119. |
she also showed cerebellar signs such as saccadic smooth pursuit, ataxia of upper and lower limbs, and increased tendon reflexes. |
2002-01-29 |
2023-08-12 |
Not clear |
| J M Pedespan, M Husson, C Defos du Rau, S Rou. [Neurologic emergencies in the child]. La Revue du praticien. vol 51. issue 17. 2002-01-24. PMID:11787222. |
the two most classical etiologies of ataxias are cerebellar involvement or deep sensibility disorder. |
2002-01-24 |
2023-08-12 |
Not clear |
| R C Moore, P Mastrangelo, E Bouzamondo, C Heinrich, G Legname, S B Prusiner, L Hood, D Westaway, S J DeArmond, P Trembla. Doppel-induced cerebellar degeneration in transgenic mice. Proceedings of the National Academy of Sciences of the United States of America. vol 98. issue 26. 2002-01-22. PMID:11734625. |
in two prnp-deficient (prnp(0/0)) mouse lines (ngsk and rcm0), dpl overexpression correlated with ataxia and death of cerebellar neurons. |
2002-01-22 |
2023-08-12 |
mouse |
| H Ogura, J Aruga, K Mikoshib. Behavioral abnormalities of Zic1 and Zic2 mutant mice: implications as models for human neurological disorders. Behavior genetics. vol 31. issue 3. 2001-12-31. PMID:11699604. |
in previous studies, we showed that the homozygous zic1 null mutation (zic1-/-) results in cerebellar malformation with severe ataxia and that holoprosencephaly and spina bifida occur in homozygotes for zic2 knockdown mutation (zic2kd/kd). |
2001-12-31 |
2023-08-12 |
mouse |
| V Delague, C Bareil, P Bouvagnet, N Salem, E Chouery, J Loiselet, A Mégarbané, M Claustre. Nonprogressive autosomal recessive ataxia maps to chromosome 9q34-9qter in a large consanguineous Lebanese family. Annals of neurology. vol 50. issue 2. 2001-12-20. PMID:11506409. |
congenital ataxias are a heterogeneous group of predominantly nonprogressive disorders characterized by hypotonia, developmental delay followed by the appearance of ataxia, and often associated with dysarthria, mental retardation, and atrophy of the cerebellum. |
2001-12-20 |
2023-08-12 |
Not clear |
| C H Kwon, X Zhu, J Zhang, L L Knoop, R Tharp, R J Smeyne, C G Eberhart, P C Burger, S J Bake. Pten regulates neuronal soma size: a mouse model of Lhermitte-Duclos disease. Nature genetics. vol 29. issue 4. 2001-12-20. PMID:11726927. |
germline mutations in pten result in a range of phenotypic abnormalities that occur with variable penetrance, including neurological features such as macrocephaly, seizures, ataxia and lhermitte-duclos disease (also described as dysplastic gangliocytoma of the cerebellum). |
2001-12-20 |
2023-08-12 |
mouse |
| P Mastrangelo, D Westawa. The prion gene complex encoding PrP(C) and Doppel: insights from mutational analysis. Gene. vol 275. issue 1. 2001-12-13. PMID:11574147. |
these lines of prnp(0/0) mice exhibit ataxia and apoptosis of cerebellar cells, indicating that ectopic synthesis of dpl protein is toxic to central nervous system neurons: this inference has now been confirmed by the construction of transgenic mice expressing dpl under the direct control of the prp promoter. |
2001-12-13 |
2023-08-12 |
mouse |
| D Timmann, F B Hora. Perturbed step initiation in cerebellar subjects: 2. Modification of anticipatory postural adjustments. Experimental brain research. vol 141. issue 1. 2001-12-11. PMID:11685415. |
although ataxias of stance and gait are frequent manifestations of cerebellar disease, the number of human studies examining stance or gait in cerebellar subjects is limited. |
2001-12-11 |
2023-08-12 |
human |
| M Murai, Y Enokido, N Inamura, M Yoshino, Y Nakatsu, G T van der Horst, J H Hoeijmakers, K Tanaka, H Hatanak. Early postnatal ataxia and abnormal cerebellar development in mice lacking Xeroderma pigmentosum Group A and Cockayne syndrome Group B DNA repair genes. Proceedings of the National Academy of Sciences of the United States of America. vol 98. issue 23. 2001-12-07. PMID:11687625. |
early postnatal ataxia and abnormal cerebellar development in mice lacking xeroderma pigmentosum group a and cockayne syndrome group b dna repair genes. |
2001-12-07 |
2023-08-12 |
mouse |
| R J Sinke, E F Ippel, C M Diepstraten, F A Beemer, J H Wokke, B J van Hilten, N V Knoers, H K van Amstel, H P Kreme. Clinical and molecular correlations in spinocerebellar ataxia type 6: a study of 24 Dutch families. Archives of neurology. vol 58. issue 11. 2001-12-07. PMID:11708993. |
autosomal dominant cerebellar ataxias (adcas), or spinocerebellar ataxias (scas), are a heterogeneous group of neurodegenerative disorders. |
2001-12-07 |
2023-08-12 |
Not clear |
| K Nakamura, S Y Jeong, T Uchihara, M Anno, K Nagashima, T Nagashima, S Ikeda, S Tsuji, I Kanazaw. SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein. Human molecular genetics. vol 10. issue 14. 2001-12-04. PMID:11448935. |
genetic etiologies of at least 20% of autosomal dominant cerebellar ataxias (adcas) have yet to be clarified. |
2001-12-04 |
2023-08-12 |
Not clear |
| P Briones, M A Vilaseca, M T García-Silva, M Pineda, J Colomer, I Ferrer, J Artigas, J Jaeken, A Chabá. Congenital disorders of glycosylation (CDG) may be underdiagnosed when mimicking mitochondrial disease. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. vol 5. issue 3. 2001-12-04. PMID:11589167. |
patient 4 presented with neurological regression mimicking leigh disease, with ptosis, myoclonus, ataxia and brainstem and cerebellar atrophy. |
2001-12-04 |
2023-08-12 |
Not clear |
| V Villanueva-Haba, M Garcés-Sánchez, L Bataller, F Palau, J Vílche. [Neuroimaging study with morphometric analysis of hereditary and idiopathic ataxia]. Neurologia (Barcelona, Spain). vol 16. issue 3. 2001-09-13. PMID:11333779. |
hereditary and idiopathic ataxias are neurodegenerative disorders affecting diverse neuronal systems, particularly the cerebellum and its tracts. |
2001-09-13 |
2023-08-12 |
Not clear |
| N Ikuta, M Koga, J Ogasawara, M Morimatsu, N Yuk. [Anti-GD1b IgG antibody-related Guillain-Barré syndrome initially mimicking brainstem infarction]. Rinsho shinkeigaku = Clinical neurology. vol 41. issue 2-3. 2001-09-06. PMID:11481856. |
our patient, however, was characterized with early involvement of brainstem with ataxia of cerebellar type. |
2001-09-06 |
2023-08-12 |
Not clear |
| B P van de Warrenbur. [Autosomal dominant cerebellar ataxias in the Netherlands: a national inventory]. Nederlands tijdschrift voor geneeskunde. vol 145. issue 20. 2001-08-30. PMID:11396263. |
[autosomal dominant cerebellar ataxias in the netherlands: a national inventory]. |
2001-08-30 |
2023-08-12 |
Not clear |
| B P van de Warrenbur. [Autosomal dominant cerebellar ataxias in the Netherlands: a national inventory]. Nederlands tijdschrift voor geneeskunde. vol 145. issue 20. 2001-08-30. PMID:11396263. |
to provide a comprehensive estimate of the number of dutch autosomal dominant cerebellar ataxias (adca) families and patients and thus estimate the minimal prevalence of adca in the netherlands. |
2001-08-30 |
2023-08-12 |
Not clear |