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  1. No Access

    Article

    Semi-automated quantification of C9orf72 expansion size reveals inverse correlation between hexanucleotide repeat number and disease duration in frontotemporal degeneration

    We investigated whether chromosome 9 open reading frame 72 hexanucleotide repeat expansion (C9orf72 expansion) size in peripheral DNA was associated with clinical differences in frontotemporal degeneration (FTD) ...

    EunRan Suh, Edward B. Lee, Donald Neal, Elisabeth M. Wood… in Acta Neuropathologica (2015)

  2. Article

    Open Access

    Common neuropathological features underlie distinct clinical presentations in three siblings with hereditary diffuse leukoencephalopathy with spheroids caused by CSF1R p.Arg782His

    Hereditary diffuse leukoencephalopathy with spheroids (HDLS) presents with a variety of clinical phenotypes including motor impairments such as gait dysfunction, rigidity, tremor and bradykinesia as well as co...

    John L. Robinson, EunRan Suh, Elisabeth M. Wood… in Acta Neuropathologica Communications (2015)

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  3. No Access

    Article

    Hypermethylation of repeat expanded C9orf72 is a clinical and molecular disease modifier

    C9orf72 promoter hypermethylation inhibits the accumulation of pathologies which have been postulated to be neurotoxic. We tested here whether C9orf72 hypermethylation is associated with prolonge...

    Jenny Russ, Elaine Y. Liu, Kathryn Wu, Donald Neal, EunRan Suh… in Acta Neuropathologica (2015)

  4. No Access

    Article

    Brain progranulin expression in GRN-associated frontotemporal lobar degeneration

    Frontotemporal lobar degeneration with TDP-43 inclusions (FTLD-TDP) is characterized by progressive decline in behavior, executive function, and language. Progranulin (GRN) gene mutations are pathogenic for FTLD-...

    Alice S. Chen-Plotkin, Felix Geser… in Acta Neuropathologica (2010)