Clusters of non-truncating mutations of P/Q type Ca(2+) channel subunit Ca(v)2.1 causing episodic ataxia 2

Samankaltaisia teoksia

• Episodic Ataxias: Faux or Real?
  Tekijä: Giunti, Paola, et al.
  Julkaistu: (2020)
• Complete Loss of P/Q Calcium Channel Activity Caused by a CACNA1A Missense Mutation Carried by Patients with Episodic Ataxia Type 2
  Tekijä: Guida, Serena, et al.
  Julkaistu: (2001)
• Molecular mechanism of Spinocerebellar Ataxia type 6: glutamine repeat disorder, channelopathy and transcriptional dysregulation. The multifaceted aspects of a single mutation
  Tekijä: Giunti, Paola, et al.
  Julkaistu: (2015)
• A Novel De Novo Mutation of the TITF1/NKX2-1 Gene Causing Ataxia, Benign Hereditary Chorea, Hypothyroidism and a Pituitary Mass in a UK Family and Review of the Literature
  Tekijä: Veneziano, Liana, et al.
  Julkaistu: (2014)
• Effect of trinucleotide repeat length and parental sex on phenotypic variation in spinocerebellar ataxia I.
  Tekijä: Jodice, C., et al.
  Julkaistu: (1994)