Spectrum and prevalence of autosomal dominant spinocerebellar ataxia in Hokkaido, the northern island of Japan: a study of 113 Japanese families
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://www.nature.com/articles/jhg2007114.pdf
Reference77 articles.
1. Alonso I, Costa C, Gomes A, Ferro A, Seixas AI, Silva S, Cruz VT, Coutinho P, Sequeiros J, Silveira I (2005) A novel H101Q mutation causes PKC gamma loss in spinocerebellar ataxia type 14. J Hum Genet 50:523–529
2. Bahl S, Virdi K, Mittal U, Sachdeva MP, Kalla AK, Holmes SE, O’Hearn E, Margolis RL, Jain S, Srivastava AK, Mukerji M (2005) Evidence of a common founder for SCA12 in the Indian population. Ann Hum Genet 69:528–534
3. Brkanac Z, Fernandez M, Matsushita M, Lipe H, Wolff J, Bird TD, Raskind WH (2002) Autosomal dominant sensory/motor neuropathy with ataxia (SMNA): linkage to chromosome 7q22- q32. Am J Med Genet 114:450–457
4. Brunetti-Pierri N, Wilfong AA, Hunter JV, Craigen WJ (2006) A severe case of dentatorubro-pallidoluysian atrophy (DRPLA) with microcephaly, very early onset of seizures, and cerebral white matter involvement. Neuropediatrics 37:308–311
5. Burk K, Zuhlke C, Konig IR, Ziegler A, Schwinger E, Globas C, Dichgans J, Hellenbroich Y (2004) Spinocerebellar ataxia type 5: clinical and molecular genetic features of a German kindred. Neurology 62:327–329
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