Authors: Rampoldi, L Dobson-Stone, C Rubio, JP Danek, A Chalmers, RM Wood, NW Verellen, C Ferrer, X Malandrini, A Fabrizi, GM Brown, R Vance, J Pericak-Vance, M Rudolf, G Carre, S Alonso, E Manfredi, M Nemeth, AH Monaco, AP

Citation: L. Rampoldi et al., A conserved sorting-associated protein is mutant in chorea-acanthocytosis, NAT GENET, 28(2), 2001, pp. 119-120

Authors: Danek, A Rubio, JP Rampoldi, L Ho, MF Dobson-Stone, C Tison, F Symmans, WA Oechsner, M Kalckreuth, W Watt, JM Corbett, AJ Hamdalla, HHM Marshall, AG Sutton, I Dotti, MT Malandrini, A Walker, RH Daniels, G Monaco, AP

Citation: A. Danek et al., McLeod neuroacanthocytosis: Genotype and phenotype, ANN NEUROL, 50(6), 2001, pp. 755-764

Authors: Dobson-Stone, C Cox, RD Lonie, L Southam, L Fraser, M Wise, C Bernier, F Hodgson, S Porter, DE Simpson, AHRW Monaco, AP

Citation: C. Dobson-stone et al., Comparison of fluorescent single-strand conformation polymorphism analysisand denaturing high-performance liquid chromatography for detection of EXT1 and EXT2 mutations in hereditary multiple exostoses, EUR J HUM G, 8(1), 2000, pp. 24-32

Authors: Sudbrak, R Brown, J Dobson-Stone, C Carter, S Ramser, J White, J Healy, E Dissanayake, M Larregue, M Perrussel, M Lehrach, H Munro, CS Strachan, T Burge, S Hovnanian, A Monaco, AP

Citation: R. Sudbrak et al., Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca2+ pump, HUM MOL GEN, 9(7), 2000, pp. 1131-1140

Authors: Rubio, JP Levy, ER Dobson-Stone, C Monaco, AP

Citation: Jp. Rubio et al., Genomic organization of the human G alpha 14 and G alpha q genes and mutation analysis in chorea-acanthocytosis (CHAC), GENOMICS, 57(1), 1999, pp. 84-93