A novel TRPA1 variant is associated with carbamazepine-responsive cramp-fasciculation syndrome

por Nirenberg, M.J., Chaouni, R., Biller, T.M., Gilbert, R.M., Paisán-Ruiz, C.
Publicado en Clin Genet (2017)

Parkin and PINK1 mutations in early-onset Parkinson’s disease: comprehensive screening in publicly available cases and control

por Brooks, J, Ding, J, Simon-Sanchez, J, Paisan-Ruiz, C, Singleton, A B, Scholz, S W
Publicado en J Med Genet (2009)

Loss of function mutation in a mitochondrial chaperone protein leading to dyregulated ROS production, and autoinflammatory disease in a single kindred

por Standing, A, Eleftheriou, D, Paisan-Ruiz, C, Rowcenzio, D, Hong, Y, Omoyinmi, E, Woo, P, Hawkins, P, Lachmann, H, Klein, N, Brogan, P
Publicado en Pediatr Rheumatol Online J (2015)

Compound heterozygous PNPLA6 mutations cause Boucher–Neuhäuser syndrome with late-onset ataxia

por Deik, A., Johannes, B., Rucker, J. C., Sánchez, E., Brodie, S. E., Deegan, E., Landy, K., Kajiwara, Y., Scelsa, S., Saunders-Pullman, R., Paisán-Ruiz, C.
Publicado en J Neurol (2014)

Testing association between LRRK2 and Parkinson's disease and investigating linkage disequilibrium

por Paisán‐Ruíz, C, Evans, E W, Jain, S, Xiromerisiou, G, Gibbs, J R, Eerola, J, Gourbali, V, Hellström, O, Duckworth, J, Papadimitriou, A, Tienari, P J, Hadjigeorgiou, G M, Singleton, A B
Publicado 2006