Marka van Blitterswijk

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

Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS

Tania F. Gendron, Kevin F. Bieniek, Yong‐Jie Zhang et al. · Acta Neuropathologica · 2013 · 575 citations · Full text

Chromatin, Neurodegenerative Diseases, Rna Processing +14

Detection of long repeat expansions from PCR-free whole-genome sequence data

Egor Dolzhenko, Joke J.F.A. van Vugt, Richard J. Shaw et al. · Genome Research · 2017 · 413 citations · Full text

Evidence for an oligogenic basis of amyotrophic lateral sclerosis

Marka van Blitterswijk, Michael A. van Es, Eric A. M. Hennekam et al. · Human Molecular Genetics · 2012 · 344 citations · Full text

Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease

Cyril Pottier, Kevin F. Bieniek, Ni Cole A. Finch et al. · Acta Neuropathologica · 2015 · 308 citations · Full text

Frontotemporal Lobar Degeneration, Molecular Neuroscience, Optn Mutations +11