PNPLA6 mutations cause Boucher-Neuhäuser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum

Antzeko izenburuak

• STUB1/CHIP mutations cause Gordon Holmes syndrome as part of a widespread multisystemic neurodegeneration: evidence from four novel mutations
  nork: Hayer, Stefanie Nicole, et al.
  Argitaratua: (2017)
• Compound heterozygous PNPLA6 mutations cause Boucher–Neuhäuser syndrome with late-onset ataxia
  nork: Deik, A., et al.
  Argitaratua: (2014)
• Ophthalmologic Findings of Boucher-Neuhäuser Syndrome
  nork: Yu, Sun Im, et al.
  Argitaratua: (2008)
• A novel PNPLA6 compound heterozygous mutation identified in a Chinese patient with Boucher-Neuhäuser syndrome
  nork: Zheng, Ruizhi, et al.
  Argitaratua: (2018)
• Abnormal Paraplegin Expression in Swollen Neurites, τ- and α-Synuclein Pathology in a Case of Hereditary Spastic Paraplegia SPG7 with an Ala510Val Mutation
  nork: Thal, Dietmar R., et al.
  Argitaratua: (2015)