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  1. No Access

    Article

    Corticobasal degeneration with TDP-43 pathology presenting with progressive supranuclear palsy syndrome: a distinct clinicopathologic subtype

    Corticobasal degeneration (CBD) is a clinically heterogeneous tauopathy, which has overlap** clinicopathologic and genetic characteristics with progressive supranuclear palsy (PSP). This study aimed to eluci...

    Shunsuke Koga, Naomi Kouri, Ronald L. Walton, Mark T. W. Ebbert… in Acta Neuropathologica (2018)

  2. Article

    Open Access

    Long-read sequencing across the C9orf72 ‘GGGGCC’ repeat expansion: implications for clinical use and genetic discovery efforts in human disease

    Many neurodegenerative diseases are caused by nucleotide repeat expansions, but most expansions, like the C9orf72 ‘GGGGCC’ (G4C2) repeat that causes approximately 5–7% of all amyotrophic lateral sclerosis (ALS) a...

    Mark T. W. Ebbert, Stefan L. Farrugia, Jonathon P. Sens… in Molecular Neurodegeneration (2018)

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  3. No Access

    Article

    Poly(GR) impairs protein translation and stress granule dynamics in C9orf72-associated frontotemporal dementia and amyotrophic lateral sclerosis

    The major genetic cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) is a C9orf72 G4C2 repeat expansion1,2. Proposed mechanisms by which the expansion causes c9FTD/ALS include toxicity...

    Yong-Jie Zhang, Tania F. Gendron, Mark T. W. Ebbert, Aliesha D. O’Raw… in Nature Medicine (2018)

  4. No Access

    Chapter

    An Epigenetic Spin to ALS and FTD

    Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are two devastating and lethal neurodegenerative diseases seen comorbidly in up to 15% of patients. Despite several decades of research, no...

    Mark T. W. Ebbert, Rebecca J. Lank… in RNA Metabolism in Neurodegenerative Diseas… (2018)

  5. No Access

    Article

    Conserved DNA methylation combined with differential frontal cortex and cerebellar expression distinguishes C9orf72-associated and sporadic ALS, and implicates SERPINA1 in disease

    We previously found C9orf72-associated (c9ALS) and sporadic amyotrophic lateral sclerosis (sALS) brain transcriptomes comprise thousands of defects, among which, some are likely key contributors to ALS pathogenes...

    Mark T. W. Ebbert, Christian A. Ross, Luc J. Pregent… in Acta Neuropathologica (2017)

  6. No Access

    Article

    Tumor grafts derived from women with breast cancer authentically reflect tumor pathology, growth, metastasis and disease outcomes

    By implementing the conditions for orthotopic implantation of different types of human breast tumors, the authors have created a publicly available bank of new mouse models that more faithfully recreate indivi...

    Yoko S DeRose, Guoying Wang, Yi-Chun Lin, Philip S Bernard… in Nature Medicine (2011)