J
J. Roos A. de Graaf
Researcher at Erasmus University Rotterdam
Publications - 1
Citations - 255
J. Roos A. de Graaf is an academic researcher from Erasmus University Rotterdam. The author has contributed to research in topics: Trinucleotide repeat expansion & Frontotemporal lobar degeneration. The author has an hindex of 1, co-authored 1 publications receiving 238 citations.
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The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions
Javier Simón-Sánchez,Elise G.P. Dopper,Elise G.P. Dopper,Petra E. Cohn-Hokke,Renate K. Hukema,Nayia Nicolaou,Harro Seelaar,J. Roos A. de Graaf,Inge de Koning,Natasja M. van Schoor,Dorly J. H. Deeg,Marion Smits,Joost Raaphorst,Leonard H. van den Berg,Helenius J. Schelhaas,Christine E. M. de Die-Smulders,Danielle Majoor-Krakauer,Annemieke J.M. Rozemuller,Rob Willemsen,Yolande A.L. Pijnenburg,Peter Heutink,John C. van Swieten,John C. van Swieten +22 more
TL;DR: Investigation of clinical and neuropathological characteristics of hexanucleotide repeat expansions in C9orf72 in a large cohort of Dutch patients with frontotemporal dementia found neuronal and glial inclusions, and dystrophic neurites containing transactive response DNA binding protein.