Spinocerebellar ataxia: relationship between phenotype and genotype - a review.
作者： Y.-M. Sun , C. Lu , Z.-Y. Wu
DOI: 10.1111/CGE.12808
关键词: Dysarthria 、 Nosology 、 Disease 、 Peripheral neuropathy 、 Genotype 、 Genetic testing 、 Bioinformatics 、 Spinocerebellar ataxia 、 Medicine 、 Phenotype
摘要: … We reviewed the phenotype–genotype relationship of SCAs from the clinical perspective of … The pathogenic gene was identified in 2015 by genome-wide linkage analysis and next-…
sci-hub.se 参考文章(118)
Harry T. Orr, Ming-yi Chung, Sandro Banfi, Thomas J. Kwiatkowski, Antonio Servadio, Arthur L. Beaudet, Alanna E. McCall, Lisa A. Duvick, Laura P. W. Ranum, Huda Y. Zoghbi, Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1 Nature Genetics. ,vol. 4, pp. 221- 226 ,(1993) , 10.1038/NG0793-221
S. Zeng, J. Zeng, M. He, X. Zeng, Y. Zhou, Z. Liu, K. Xia, Q. Pan, H. Jiang, L. Shen, X. Yan, B. Tang, J. Wang, Genetic and clinical analysis of spinocerebellar ataxia type 36 in Mainland China Clinical Genetics. ,vol. 90, pp. 141- 148 ,(2016) , 10.1111/CGE.12706
L. Velázquez-Pérez, C. M. Cerecedo-Zapata, O. Hernández-Hernández, E. Martínez-Cruz, Y. S. Tapia-Guerrero, R. González-Piña, J. Salas-Vargas, R. Rodríguez-Labrada, R. Gurrola-Betancourth, N. Leyva-García, B. Cisneros, J. J. Magaña, A comprehensive clinical and genetic study of a large Mexican population with spinocerebellar ataxia type 7 neurogenetics. ,vol. 16, pp. 11- 21 ,(2015) , 10.1007/S10048-014-0424-Y
Beisha Tang, Lifang Lei, Yafang Zhou, Xinxiang Yan, Kun Xia, Lu Shen, Jiping Yi, Hong Jiang, Qian Xu, Junling Wang, Qian Pan, Xiaohui Li, Jie Zhou, Studies on the CAG repeat expansion in patients with hereditary spinocerebellar ataxia from Chinese Han Chinese journal of medical genetics. ,vol. 26, pp. 620- 625 ,(2009) , 10.3760/CMA.J.ISSN.1003-9406.2009.06.004
Harding Ae, Clinical features and classification of inherited ataxias. Advances in Neurology. ,vol. 61, pp. 1- 14 ,(1993)
Israela Lerer, Doron Merims, Dvorah Abeliovich, Joël Zlotogora, Natan Gadoth, Machado-Joseph disease: correlation between the clinical features, the CAG repeat length and homozygosity for the mutation. European Journal of Human Genetics. ,vol. 4, pp. 3- 7 ,(1996) , 10.1159/000472162
Antoni Matilla-Dueñas, Machado-Joseph disease and other rare spinocerebellar ataxias. Advances in Experimental Medicine and Biology. ,vol. 724, pp. 172- 188 ,(2012) , 10.1007/978-1-4614-0653-2_14
Satoko Sakakibara, Ikuko Aiba, Yufuko Saito, Akira Inukai, Kinya Ishikawa, Hidehiro Mizusawa, Clinical features and MRI findings in spinocerebellar ataxia type 31 (SCA31) comparing with spinocerebellar ataxia type 6 (SCA6) Rinsho Shinkeigaku. ,vol. 54, pp. 473- 479 ,(2014) , 10.5692/CLINICALNEUROL.54.473
A. Castrioto, P. Prontera, E. Di Gregorio, V. Rossi, L. Parnetti, A. Rossi, E. Donti, A. Brusco, P. Calabresi, N. Tambasco, A novel spinocerebellar ataxia type 15 family with involuntary movements and cognitive decline European Journal of Neurology. ,vol. 18, pp. 1263- 1265 ,(2011) , 10.1111/J.1468-1331.2011.03366.X
K. Abe, Y. Ikeda, T. Kurata, Y. Ohta, Y. Manabe, M. Okamoto, K. Takamatsu, T. Ohta, Y. Takao, Y. Shiro, M. Shoji, T. Kamiya, H. Kobayashi, A. Koizumi, Cognitive and affective impairments of a novel SCA/MND crossroad mutation Asidan. European Journal of Neurology. ,vol. 19, pp. 1070- 1078 ,(2012) , 10.1111/J.1468-1331.2012.03669.X