Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy
Rouleau, Guy A, Nohira, Osamu, Mathieu, Jean, Heutink, Peter, Duranceau, André, Codère, Francois, Fardeau, Michel, Brais, Bernard, Korcyn, Amos D, Chrétien, Nathalie, Rochefort, Daniel L, Tomé, Fernando M.S, Xie, Ya-Gang, Rommens, Johanna M, Blumen, Segiu, Lafrentére, Ronald G, Uyama, Eichiro, Bouchard, Jean-Pierre
Published in Nature genetics (01.02.1998)
Published in Nature genetics (01.02.1998)
Get full text
Journal Article
Isolation and characterization of GT335, a novel human gene conserved in Escherichia coli and mapping to 21q22.3
LAFRENIERE, R. G, ROCHEFORT, D. L, ROMMENS, J. M, ROULEAU, G. A, KIBAR, Z, FON, E. A, HAN, F.-Y, COCHIUS, J, KANG, X, BAIRD, S, KORNELUK, R. G, ANDERMANN, E
Published in Genomics (San Diego, Calif.) (15.12.1996)
Published in Genomics (San Diego, Calif.) (15.12.1996)
Get full text
Journal Article
Unstable insertion in the 5′ flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1
Cochius, Jeffrey I, Rouleau, Guy A, Lafreniére, Ronald G, Chrétien, Nathalie, Cossio, Otto Hernandez, Pouliot, Marc A, Andermann, Eva, Farrell, Kevin, Pranzatelli, Michael R, Patry, George, Söderfeldt, Birgitta, Hale, Bradford R, Rochefort, Daniel L, Rommens, Johanna M, Federico, Antonio, Andermann, Frederick, Nousiainen, Unto, Janszky, József, Kmiec, Tomasz, Kälviäinen, Reetta, Sørensen, Troels, Uldall, Peter
Published in Nature genetics (01.03.1997)
Published in Nature genetics (01.03.1997)
Get full text
Journal Article
Isolation and genomic structure of a human homolog of the yeast periodic tryptophan protein 2 (PWP2) gene mapping to 21q22.3
Lafrenière, R G, Rochefort, D L, Chrétien, N, Neville, C E, Korneluk, R G, Zuo, L, Wei, Y, Lichter, J, Rouleau, G A
Published in Genome research (01.12.1996)
Published in Genome research (01.12.1996)
Get full text
Journal Article
Genomic structure of the human GT334 ( EHOC-1) gene mapping to 21q22.3
Lafrenière, Ronald G., Kibar, Zoha, Rochefort, Daniel L., Fei-Yu Han, Fon, Edward A., Dubé, Marie-Pierre, Kang, Xiaolin, Baird, Stephen, Korneluk, Robert G., Rommens, Johanna M., Rouleau, Guy A.
Published in Gene (01.10.1997)
Published in Gene (01.10.1997)
Get full text
Journal Article
CCM2 mutations account for 13% of cases in a large collection of kindreds with hereditary cavernous malformations
Verlaan, Dominique J., Laurent, Sandra B., Rochefort, Daniel L., Liquori, Christina L., Marchuk, Douglas A., Siegel, Adrian M., Rouleau, Guy A.
Published in Annals of neurology (01.05.2004)
Published in Annals of neurology (01.05.2004)
Get full text
Journal Article