Top-down and bottom-up propagation of disease in the neuronal ceroid lipofuscinoses

Slični predmeti

• High diagnostic yield of direct Sanger sequencing in the diagnosis of neuronal ceroid lipofuscinoses
  od: Abdulhakim Jilani, i dr.
  Izdano: (2019-11-01)
• Case Report: Novel MFSD8 Variants in a Chinese Family With Neuronal Ceroid Lipofuscinoses 7
  od: Yimeng Qiao, i dr.
  Izdano: (2022-01-01)
• Altered biometal homeostasis is associated with CLN6 mRNA loss in mouse neuronal ceroid lipofuscinosis
  od: Katja M. Kanninen, i dr.
  Izdano: (2013-05-01)
• Identification of two novel null variants in CLN8 by targeted next-generation sequencing: first report of a Chinese patient with neuronal ceroid lipofuscinosis due to CLN8 variants
  od: Zhijie Gao, i dr.
  Izdano: (2018-02-01)
• A novel pathogenic frameshift variant unmasked by a large de novo deletion at 13q21.33-q31.1 in a Chinese patient with neuronal ceroid lipofuscinosis type 5
  od: Wei Li, i dr.
  Izdano: (2020-05-01)