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- GIROLAMO AURELIO VITELLO
  
  Articles written in Journal of Genetics
- Volume 93 Issue 1 April 2014 pp 179-181 Research Note
  
  Carrier screening for spinal muscular atrophy in Italian population
  
  Francesco Calì Giuseppa Ruggeri Valeria Chiavetta Carmela Scuderi Sebastiano Bianca Chiara Barone Alda Ragalmuto Pietro Schinocca Girolamo Aurelio Vitello Valentino Romano Sebastiano Musumeci
  
  More Details Abstract Fulltext PDF
- Volume 97 Issue 5 December 2018 pp 1469-1472 RESEARCH NOTE
  
  Novel c.C2254T (p.Q752*) mutation in ZFYVE26 (SPG15) gene in a patient with hereditary spastic paraparesis
  
  MIRELLA VINCI MARCO FICHERA SEBASTIANO ANTONINOMUSUMECI FRANCESCO CALI GIROLAMO AURELIO VITELLO
  
  More Details Abstract Fulltext PDF
  
  Hereditary spastic paraplegias are clinically and genetically heterogeneous degenerative disorders, and pathological variants in the autosomal recessive ZFYVE26 gene are considered as very rare causes. We describe a novel mutation in ZFYVE26 gene found in a patient with autosomal recessive spastic paraplegias. The use of a ‘target-gene’ approach allowed us to expand the clinical spectrum associated with hereditary spastic paraplegias.

Journal of Genetics

Volume 102, 2023
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Continuous Article Publishing mode

Journal of Genetics | News
- Editorial Note on Continuous Article Publication
  
  Posted on July 25, 2019
  
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