STUB1/CHIP mutations cause Gordon Holmes syndrome as part of a widespread multisystemic neurodegeneration: evidence from four novel mutations

Podobne zapisy

• Multisystemic SYNE1 ataxia: confirming the high frequency and extending the mutational and phenotypic spectrum
  od: Mademan, Inès, i wsp.
  Wydane: (2016)
• PNPLA6 mutations cause Boucher-Neuhäuser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum
  od: Synofzik, Matthis, i wsp.
  Wydane: (2014)
• Phenotype and frequency of STUB1 mutations: next-generation screenings in Caucasian ataxia and spastic paraplegia cohorts
  od: Synofzik, Matthis, i wsp.
  Wydane: (2014)
• First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsy
  od: Smets, Katrien, i wsp.
  Wydane: (2015)
• Abnormal Paraplegin Expression in Swollen Neurites, τ- and α-Synuclein Pathology in a Case of Hereditary Spastic Paraplegia SPG7 with an Ala510Val Mutation
  od: Thal, Dietmar R., i wsp.
  Wydane: (2015)