‘Cortical cerebellar atrophy' dwindles away in the era of next-generation sequencing

Podobne knjige/članki

• Performance Comparison of Bench-Top Next Generation Sequencers Using Microdroplet PCR-Based Enrichment for Targeted Sequencing in Patients with Autism Spectrum Disorder
  od: Koshimizu, Eriko, et al.
  Izdano: (2013)
• Predominant cerebellar phenotype in spastic paraplegia 7 (SPG7)
  od: Yahikozawa, Hiroyuki, et al.
  Izdano: (2015)
• ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin–Siris-like syndrome
  od: Miyatake, Satoko, et al.
  Izdano: (2017)
• Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation
  od: Doi, Hiroshi, et al.
  Izdano: (2014)
• Identification of novel compound heterozygous mutations in ACO2 in a patient with progressive cerebral and cerebellar atrophy
  od: Fukada, Masahide, et al.
  Izdano: (2019)