GDAP2 mutations implicate susceptibility to cellular stress in a new form of cerebellar ataxia

Ítems similars

• Reply: A homozygous GDAP2 loss-of-function variant in a patient with adult-onset cerebellar ataxia; and Novel GDAP2 pathogenic variants cause autosomal recessive spinocerebellar ataxia-27 (SCAR27) in a Chinese family
  per: Eidhof, Ilse, et al.
  Publicat: (2020)
• Integrative network and brain expression analysis reveals mechanistic modules in ataxia
  per: Eidhof, Ilse, et al.
  Publicat: (2019)
• First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsy
  per: Smets, Katrien, et al.
  Publicat: (2015)
• SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study
  per: Synofzik, Matthis, et al.
  Publicat: (2016)
• Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene–disease associations and unanticipated rare disorders
  per: van de Warrenburg, Bart P, et al.
  Publicat: (2016)