Multisystemic SYNE1 ataxia: confirming the high frequency and extending the mutational and phenotypic spectrum

Lignende værker

• STUB1/CHIP mutations cause Gordon Holmes syndrome as part of a widespread multisystemic neurodegeneration: evidence from four novel mutations
  af: Hayer, Stefanie Nicole, et al.
  Udgivet: (2017)
• SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study
  af: Synofzik, Matthis, et al.
  Udgivet: (2016)
• Uniparental disomy determined by whole‐exome sequencing in a spectrum of rare motoneuron diseases and ataxias
  af: Bis, Dana M., et al.
  Udgivet: (2017)
• Abnormal Paraplegin Expression in Swollen Neurites, τ- and α-Synuclein Pathology in a Case of Hereditary Spastic Paraplegia SPG7 with an Ala510Val Mutation
  af: Thal, Dietmar R., et al.
  Udgivet: (2015)
• De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function
  af: Synofzik, Matthis, et al.
  Udgivet: (2018)