Relevant bibliographies by topics / Spinocerebellar Ataxia Type 1

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Academic literature on the topic 'Spinocerebellar Ataxia Type 1'

Author: Grafiati
Published: 4 June 2021
Last updated: 13 February 2022

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Journal articles on the topic "Spinocerebellar Ataxia Type 1"

1

Zoghbi, Huda Y., and Harry T. Orr. "Spinocerebellar ataxia type 1." Seminars in Cell Biology 6, no. 1 (1995): 29–35. http://dx.doi.org/10.1016/1043-4682(95)90012-8.

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2

Cummings, Christopher J., Harry T. Orr, and Huda Y. Zoghbi. "Progress in pathogenesis studies of spinocerebellar ataxia type 1." Philosophical Transactions of the Royal Society of London. Series B: Biological Sciences 354, no. 1386 (1999): 1079–81. http://dx.doi.org/10.1098/rstb.1999.0462.

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Spinocerebellar ataxia type 1 (SCA1) is a dominantly inherited disorder characterized by progressive loss of coordination, motor impairment and the degeneration of cerebellar Purkinje cells, spinocerebellar tracts and brainstem nuclei. Many dominantly inherited neurodegenerative diseases share the mutational basis of SCA1: the expansion of a translated CAG repeat coding for glutamine. Mice lacking ataxin-1 display learning deficits and altered hippocampal synaptic plasticity but none of the abnormalities seen in human SCA1; mice expressing ataxin-1 with an expanded CAG tract (82 glutamine resi
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3

Lebranchu, Pierre, Guylène Le Meur, Armelle Magot, et al. "Maculopathy and Spinocerebellar Ataxia Type 1." Journal of Neuro-Ophthalmology 33, no. 3 (2013): 225–31. http://dx.doi.org/10.1097/wno.0b013e31828d4add.

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4

Zhou, Yong-Xing, Wen-Hui Qiao, Wei-Hong Gu, et al. "Spinocerebellar Ataxia Type 1 in China." Archives of Neurology 58, no. 5 (2001): 789. http://dx.doi.org/10.1001/archneur.58.5.789.

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5

Illarioshkin, Sergei N., Pyotr A. Slominsky, Igor V. Ovchinnikov, et al. "Spinocerebellar ataxia type 1 in Russia." Journal of Neurology 243, no. 7 (1996): 506–10. http://dx.doi.org/10.1007/bf00886871.

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6

Khwaja, Geeta Anjum, Abhilekh Srivastava, Vijay Vishwanath Ghuge, and Neera Chaudhry. "Writer’s cramp in spinocerebellar ataxia Type 1." Journal of Neurosciences in Rural Practice 7, no. 04 (2016): 584–86. http://dx.doi.org/10.4103/0976-3147.186980.

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ABSTRACTDystonia can be encountered in a small subset of patients with spinocerebellar ataxia (SCA), but task specific dystonia is extremely rare. We report a case of a 48-year-old male with confirmed SCA Type 1 (SCA1) with mild progressive cerebellar ataxia and a prominent and disabling Writer’s cramp. This case highlights the ever-expanding phenotypic heterogeneity of the SCA’s in general and SCA1 in particular.
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7

Suart, Celeste E., Alma M. Perez, Ismael Al-Ramahi, Tamara Maiuri, Juan Botas, and Ray Truant. "Spinocerebellar Ataxia Type 1 protein Ataxin-1 is signaled to DNA damage by ataxia-telangiectasia mutated kinase." Human Molecular Genetics 30, no. 8 (2021): 706–15. http://dx.doi.org/10.1093/hmg/ddab074.

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Abstract Spinocerebellar Ataxia Type 1 (SCA1) is an autosomal dominant neurodegenerative disorder caused by a polyglutamine expansion in the ataxin-1 protein. Recent genetic correlational studies have implicated DNA damage repair pathways in modifying the age at onset of disease symptoms in SCA1 and Huntington’s Disease, another polyglutamine expansion disease. We demonstrate that both endogenous and transfected ataxin-1 localizes to sites of DNA damage, which is impaired by polyglutamine expansion. This response is dependent on ataxia-telangiectasia mutated (ATM) kinase activity. Further, we
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8

Kostic, Svetlana, Dusko Vranjes, Velimir Dedic, and Jagoda Potic. "P124 Spinocerebellar ataxia type 1 – case report." Clinical Neurophysiology 119 (May 2008): S102—S103. http://dx.doi.org/10.1016/s1388-2457(08)60395-8.

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9

Namekawa, Michito, Yoshihisa Takiyama, Yoshihito Ando, et al. "Choreiform movements in spinocerebellar ataxia type 1." Journal of the Neurological Sciences 187, no. 1-2 (2001): 103–6. http://dx.doi.org/10.1016/s0022-510x(01)00527-5.

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10

Bürk, K., S. Bösch, C. Globas, et al. "Executive Dysfunction in Spinocerebellar Ataxia Type 1." European Neurology 46, no. 1 (2001): 43–48. http://dx.doi.org/10.1159/000050755.

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