A patient carrying a homozygous p.A382T TARDBP missense mutation shows a syndrome including ALS, extrapyramidal symptoms and FTD

Lignende værker

• Amyotrophic Lateral Sclerosis–Frontotemporal Lobar Dementia in 3 Families With p.Ala382Thr TARDBP Mutations
  af: Chiò, Adriano, et al.
  Udgivet: (2010)
• ALS/FTD phenotype in two Sardinian families carrying both C9ORF72 and TARDBP mutations
  af: Chiò, Adriano, et al.
  Udgivet: (2012)
• Large proportion of amyotrophic lateral sclerosis cases in Sardinia are due to a single founder mutation of the TARDBP gene
  af: Chiò, Adriano, et al.
  Udgivet: (2011)
• The p.A382T TARDBP gene mutation in Sardinian patients affected by Parkinson’s disease and other degenerative parkinsonisms
  af: Cannas, Antonino, et al.
  Udgivet: (2013)
• Frontotemporal dementia with psychosis, parkinsonism, visuo-spatial dysfunction, upper motor neuron involvement associated to expansion of C9ORF72: a peculiar phenotype?
  af: Floris, Gianluca, et al.
  Udgivet: (2012)