Overwhelming genetic heterogeneity and exhausting molecular diagnostic process in chronic and progre...
Overwhelming genetic heterogeneity and exhausting molecular diagnostic process in chronic and progressive ataxias: facing it up with an algorithm, a gene, a panel at a time
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Publisher
England: Nature Publishing Group
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English
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England: Nature Publishing Group
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Ataxias are one of the most frequent complaints in Neurogenetics units worldwide. Currently, more than 50 subtypes of spinocerebellar ataxias and more than 60 recessive ataxias are recognized. We conducted an 11-year prospective, observational, analytical study in order to estimate the frequency of pediatric and adult genetic ataxias in Argentina,...
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Full title
Overwhelming genetic heterogeneity and exhausting molecular diagnostic process in chronic and progressive ataxias: facing it up with an algorithm, a gene, a panel at a time
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TN_cdi_proquest_miscellaneous_2409194938
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2409194938
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ISSN
1434-5161
E-ISSN
1435-232X
DOI
10.1038/s10038-020-0785-z
