P
P.A. Bolhuis
Researcher at University of Antwerp
Publications - 2
Citations - 589
P.A. Bolhuis is an academic researcher from University of Antwerp. The author has contributed to research in topics: Hereditary motor and sensory neuropathy & Charcot-Marie-Tooth Disease Type 1A. The author has an hindex of 2, co-authored 2 publications receiving 581 citations.
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Journal ArticleDOI
Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). The HMSN Collaborative Research Group.
P Raeymaekers,Vincent Timmerman,Eva Nelis,P. De Jonghe,Jessica E. Hoogendijk,Frank Baas,David F. Barker,J.J. Martin,M. de Visser,P.A. Bolhuis +9 more
TL;DR: It is proposed that the duplication in 17p11.2 itself is the disease causing mutation in all the HMSN I families analyzed, and different allelic combinations were found segregating with the duplicates in different families linkage disequilibrium was not a significant factor.
Journal ArticleDOI
Advances in Charcot–Marie–Tooth Disease Research: Cellular Function of CMT-Related Proteins, Transgenic Animal Models, and Pathomechanisms
Hans Werner Müller,Ueli Suter,C. Van Broeckhoven,O. Haneman,Eva Nelis,Vincent Timmerman,S. Sancho,L. Barrio,P.A. Bolhuis,R. Dermietzel,M. Frank,A.A.W.M. Gabreëls-Festen,C. Gillen,N. Haites,G. Levi,Edwin C. M. Mariman,R. Martini,Klaus-Armin Nave,B. Rautenstrauss,M. Schachner,A. Schenone,C. Schneider,M. Schröder,K. Willecke +23 more
TL;DR: A minireview of the First Workshop of the European Consortium on Charcot-Marie-Tooth disease summarizes the key findings presented and discusses their impact on CMT research.