Article

OVERWHELMING GENETIC HETEROGENEITY AND EXHAUSTING MOLECULAR DIAGNOSTIC PROCESS IN CHRONIC AND PROGRESSIVE ATAXIAS: <i>FACING IT UP WITH AN ALGORITHM, A GENE, A PANEL AT A TIME</i>

2020-03-23

Abstract excerpt

<h4>ABSTRACT</h4> Ataxias is 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, to describe the phenotypes of this cohort and eval...

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Literature Corpus work: c5db9c8b-7631-5080-aa8a-6db0e7555c1f
DOI: 10.1101/2020.03.20.20036996

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OVERWHELMING GENETIC HETEROGENEITY AND EXHAUSTING MOLECULAR DIAGNOSTIC PROCESS IN CHRONIC AND PROGRESSIVE ATAXIAS: <i>FACING IT UP WITH AN ALGORITHM, A GENE, A PANEL AT A TIME</i>DOI 10.1101/2020.03.20.20036996Read

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