Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C→T (Arg493X) mutation: an international initiative

This publication has 36 references indexed in Scilit:

• Clinicopathologic correlation in PGRN mutations
  Neurology, 2007
• A novel progranulin mutation associated with variable clinical presentation and tau, TDP43 and alpha-synuclein pathology
  Brain, 2007
• Ubiquitinated TDP-43 in Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis
  Science, 2006
• The neuropathology of frontotemporal lobar degeneration caused by mutations in the progranulin gene
  Brain, 2006
• Novel splicing mutation in the progranulin gene causing familial corticobasal syndrome
  Brain, 2006
• Characteristics of frontotemporal dementia patients with a Progranulin mutation
  Annals of Neurology, 2006
• HDDD2 is a familial frontotemporal lobar degeneration with ubiquitin‐positive, tau‐negative inclusions caused by a missense mutation in the signal peptide of progranulin
  Annals of Neurology, 2006
• Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17
  Nature, 2006
• Tau negative frontal lobe dementia at 17q21: significant finemapping of the candidate region to a 4.8 cM interval
  Molecular Psychiatry, 2002
• Tau is a candidate gene for chromosome 17 frontotemporal dementia
  Annals of Neurology, 1998