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

Ítems similars

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