Mariely DeJesus‐Hernandez

Unconventional Translation of C9ORF72 GGGGCC Expansion Generates Insoluble Polypeptides Specific to c9FTD/ALS

Peter E.A. Ash, Kevin F. Bieniek, Tania F. Gendron et al. · Neuron · 2013 · 1.1K citations · Full text

Biochemistry, Unconventional Translation, Protein Folding +4

Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids

Rosa Rademakers, Matt Baker, Alexandra M. Nicholson et al. · Nature Genetics · 2011 · 566 citations · Full text

Inflammation, Disease Mechanism, Pathogenesis +8

A yeast functional screen predicts new candidate ALS disease genes

Julien Couthouis, Michael P. Hart, James Shorter et al. · Proceedings of the National Academy of Sciences · 2011 · 394 citations

Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72

Bradley F. Boeve, Neill R. Graff‐Radford, Mariely DeJesus‐Hernandez et al. · Brain · 2012 · 346 citations · Full text

Motor Neuron Disease, Corticobasal Degeneration, Genetics +17

FET proteins TAF15 and EWS are selective markers that distinguish FTLD with FUS pathology from amyotrophic lateral sclerosis with FUS mutations

Manuela Neumann, Eva Bentmann, Dorothee Dormann et al. · Brain · 2011 · 304 citations · Full text

Fus Pathology, Amyotrophic Lateral Sclerosis, Mendelian Disorder +12