Pattern of ubiquilin pathology in ALS and FTLD indicates presence of C9ORF72 hexanucleotide expansion

@article{Brettschneider2012PatternOU,
  title={Pattern of ubiquilin pathology in ALS and FTLD indicates presence of C9ORF72 hexanucleotide expansion},
  author={Johannes Brettschneider and Vivianna M. D. Van Deerlin and John L. Robinson and Linda W Kwong and Edward K. B. Lee and Yousuf Omar Ali and Nathaniel Safren and Mervyn J. Monteiro and Jon B. Toledo and L. B. Elman and Leo McCluskey and David John Irwin and Murray Grossman and Laura Molina-Porcel and Virginia M. Y. Lee and John Q. Trojanowski},
  journal={Acta Neuropathologica},
  year={2012},
  volume={123},
  pages={825-839}
}
C9ORF72-hexanucleotide repeat expansions and ubiquilin-2 (UBQLN2) mutations are recently identified genetic markers in amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD). We investigate the relationship between C9ORF72 expansions and the clinical phenotype and neuropathology of ALS and FTLD. Genetic analysis and immunohistochemistry (IHC) were performed on autopsy-confirmed ALS (N = 75), FTLD-TDP (N = 30), AD (N = 14), and controls (N = 11). IHC for… CONTINUE READING
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