Between SCA5 and SCAR14: delineation of the SPTBN2 p.R480W-associated phenotype

Antzeko izenburuak

• Reply to “Between SCA5 and SCAR14: delineation of the SPTBN2 p.R480W-associated phenotype” by Nuovo et al.
  nork: Bolz, Hanno J.
  Argitaratua: (2018)
• Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations
  nork: Elsayed, Solaf M, et al.
  Argitaratua: (2014)
• Joubert syndrome: congenital cerebellar ataxia with the “molar tooth”
  nork: Romani, Marta, et al.
  Argitaratua: (2013)
• Age and sex prevalence estimate of Joubert syndrome in Italy
  nork: Nuovo, Sara, et al.
  Argitaratua: (2020)
• Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects
  nork: De Mori, Roberta, et al.
  Argitaratua: (2017)