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Mixed TDP-43 proteinopathy and tauopathy in frontotemporal lobar degeneration: nine case series.

Eun-Joo KimJesse A BrownJersey DengJi-Hye L HwangSalvatore SpinaZachary A MillerMary G DeMayVictor ValcourAnna KarydasEliana Marisa RamosGiovanni CoppolaBruce L MillerHoward J RosenWilliam W SeeleyLea Tenenholz Grinberg
Published in: Journal of neurology (2018)
Although patients with mixed FTLD-TDP and FTLD-tau are rare, in-depth clinical, pathological and genetic investigations may shed light on the genetic and biochemical pathways that cause the accumulation of multiple proteinaceous inclusions and inform therapeutic targets that may be beneficial to each one of these abnormal protein misfoldings.
Keyphrases
  • amyotrophic lateral sclerosis
  • genome wide
  • copy number
  • optical coherence tomography
  • dna methylation
  • cerebrospinal fluid
  • protein protein
  • gene expression
  • amino acid