By Stefan-M. Pulst (Eds.)
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''...this is for sure the best accomplished and updated stories of any advanced team of situation, each one written by way of knowledgeable in a selected disease. Any neurologist or neuroscientist considering the sphere must have a replica for reference.'' -NEUROMUSCULAR issues (March 2003) ''...a really great function of this publication is if supplies one a suppose for the place the study goes and the way it really is being organised on a world foundation, so there's lots the following for the neuroscientist. besides the fact that, Stephan Pulst's e-book additionally has an enormous position as a medical guide, with special descriptions of the connection of genotype to phenotype and dialogue of using molecular genetics for diagnostic checking out. This makes it an incredible reference booklet for an individual fascinated by the scientific prognosis of flow disorders.'' --HUMAN GENETICS (2004) 114:605
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Mutation detection frequencies and allele size distributions for spinocerebellar and Friedreich's ataxia: A cumulative history of ataxia testing in a clinical reference laboratory. Neurology 54, Suppl. 3, A357. , and Savontaus, M. L. (2000). Clinical and genetic findings in Finnish ataxia patients with the spinocerebellar ataxia 8 repeat expansion. Ann. Neurol. 48, 354-361. , and Benzer, S. (2000). Genetic suppression of polyglutamine toxicity in Drosophila. Science 287, 1837-1840. , and Pulst, S.
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