Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis

Samankaltaisia teoksia

• Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis
  Tekijä: Nosková, Lenka, et al.
  Julkaistu: (2011)
• Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing
  Tekijä: Jedličková, Ivana, et al.
  Julkaistu: (2020)
• Neuronal ceroid lipofuscinosis with DNAJC5/CSP mutations have PPT1 pathology and exhibit aberrant protein palmitoylation
  Tekijä: Henderson, Michael X., et al.
  Julkaistu: (2015)
• Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease)
  Tekijä: Berkovic, Samuel F., et al.
  Julkaistu: (2016)
• Exome-Sequencing Confirms DNAJC5 Mutations as Cause of Adult Neuronal Ceroid-Lipofuscinosis
  Tekijä: Benitez, Bruno A., et al.
  Julkaistu: (2011)