Molecular genetics of chorea-acanthocytosis by Dobson-Stone, C, Dobson-Stone, Carol

Molecular studies of chorein, the protein altered in chorea-acanthocytosis. by Dobson-Stone, C, Velayos, A, Monaco, A

Genomic organization of the human galpha14 and Galphaq genes and mutation analysis in chorea-acanthocytosis (CHAC). by Rubio, J, Levy, E, Dobson-Stone, C, Monaco, A

Identification and analysis of the new, Vps13-like gene (V13LG) family that includes CHAC, the gene altered in chorea-acanthocytosis. by Velayos, A, Vettori, A, Dobson-Stone, C, Monaco, A

The function of chorein by Velayos-Baeza, A, Levecque, C, Dobson-Stone, C, Monaco, A

The genotype and phenotype of chorea-acanthocytosis by Bader, B, Dobson-Stone, C, Velayos-Baeza, A, Monaco, A, Danek, A

Analysis of the human VPS13 gene family. by Velayos-Baeza, A, Vettori, A, Copley, R, Dobson-Stone, C, Monaco, A

Identification and characterisation of the gene for chorea-acanthocytosis. by Rampoldi, L, Dobson-Stone, C, Rubio, J, Danek, A, Nemeth, A, Monaco, A

Severity of disease and risk of malignant change in hereditary multiple exostoses by Porter, D, Lonie, L, Fraser, M, Dobson-Stone, C, Porter, JR, Monaco, A, Simpson, A

Chorein expression in post-mortem brain tissue of Chorea-Acanthocytosis patients and non-affected controls by Bader, B, Arzberger, T, Dobson-Stone, C, Velayos Baeza, A, Monaco, A, Kretzschmar, H, Danek, A

Severity of disease and risk of malignant change in hereditary multiple exostoses. A genotype-phenotype study. by Porter, D, Lonie, L, Fraser, M, Dobson-Stone, C, Porter, JR, Monaco, A, Simpson, A

Chorea-acanthocytosis: clinical and genetic findings in three families from the Arabian peninsula. by Bohlega, S, Al-Jishi, A, Dobson-Stone, C, Rampoldi, L, Saha, P, Murad, H, Kareem, A, Roberts, G, Monaco, A

DBH -1021C>T and COMT Val108/158Met genotype are not associated with the P300 ERP in an auditory oddball task. by Spronk, D, Veth, C, Arns, M, Schofield, P, Dobson-Stone, C, Ramaekers, J, Franke, B, de Bruijn, E, Verkes, R

Hailey-Hailey disease: molecular and clinical characterization of novel mutations in the ATP2C1 gene. by Dobson-Stone, C, Fairclough, R, Dunne, E, Brown, J, Dissanayake, M, Munro, C, Strachan, T, Burge, S, Sudbrak, R, Monaco, A, Hovnanian, A

Comparison of fluorescent single-strand conformation polymorphism analysis and denaturing high-performance liquid chromatography for detection of EXT1 and EXT2 mutations in heredit... by Dobson-Stone, C, Cox, R, Lonie, L, Southam, L, Fraser, M, Wise, C, Bernier, F, Hodgson, S, Porter, D, Simpson, A, Monaco, A

Identification of a VPS13A founder mutation in French Canadian families with chorea-acanthocytosis. by Dobson-Stone, C, Velayos-Baeza, A, Jansen, A, Andermann, F, Dubeau, F, Robert, F, Summers, A, Lang, A, Chouinard, S, Danek, A, Andermann, E, Monaco, A

Familial mesial temporal lobe epilepsy associated with a deletion mutation in the chorea-acanthocytosis gene by Andermann, E, Jansen, A, Al-Asmi, A, Dobson-Stone, C, Monaco, A, Lang, A, Robert, F, Badhwar, A, Mercho, S, Dubeau, F, Danek, A, Andermann, F

Familial temporal lobe epilepsy as a presenting feature of choreoacanthocytosis. by Al-Asmi, A, Jansen, A, Badhwar, A, Dubeau, F, Tampieri, D, Shustik, C, Mercho, S, Savard, G, Dobson-Stone, C, Monaco, A, Andermann, F, Andermann, E

Choreoacanthocytosis in a Mexican family. by Ruiz-Sandoval, J, García-Navarro, V, Chiquete, E, Dobson-Stone, C, Monaco, A, Alvarez-Palazuelos, L, Padilla-Martínez, J, Barrera-Chairez, E, Rodríguez-Figueroa, E, Pérez-García, G

Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca(2+) pump. by Sudbrak, R, Brown, J, Dobson-Stone, C, Carter, S, Ramser, J, White, J, Healy, E, Dissanayake, M, Larrègue, M, Perrussel, M, Lehrach, H, Munro, C, Strachan, T, Burge, S, Hovnanian, A, Monaco, A