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4,858 results
  • Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy. [Journal Article]
  • EJEur J Neurol 2018 Aug 11
  • Mancini C, Giorgio E, … Brusco A
  • CONCLUSIONS: SPG7 c.1529C>T (p.Ala510Val) mutants account for 2.3% of cerebellar ataxia cases in Italy, suggesting that this variant should be considered as priority test in the presence of late onset pure ataxia. Moreover, the heterozygous/homozygous genotype appears to predict the onset of clinical manifestation and disease progression. This article is protected by copyright. All rights reserved.
  • StatPearls [BOOK]
  • BOOKStatPearls Publishing: Treasure Island (FL)
  • Leslie Stephen W. SW Creighton University Medical Center Singh Shashank S Louisiana State Un Health Science Center
  • Nocturia is often described as the most bothersome of all urinary symptoms and is also one of the most common symptoms. It affects 40 million people in the United States alone. One in 3 adults older ...
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