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

Similar Items

• Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis
  od: Nosková, Lenka, i dr.
  Izdano: (2011)
• Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing
  od: Jedličková, Ivana, i dr.
  Izdano: (2020)
• Neuronal ceroid lipofuscinosis with DNAJC5/CSP mutations have PPT1 pathology and exhibit aberrant protein palmitoylation
  od: Henderson, Michael X., i dr.
  Izdano: (2015)
• Northern Epilepsy: A Novel Form of Neuronal Ceroid‐Lipofuscinosis
  od: Herva, Riitta, i dr.
  Izdano: (2006)
• Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease)
  od: Berkovic, Samuel F., i dr.
  Izdano: (2016)