A novel TRPA1 variant is associated with carbamazepine‐responsive cramp‐fasciculation syndrome von Nirenberg, M.J., Chaouni, R., Biller, T.M., Gilbert, R.M., Paisán‐Ruiz, C.

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R632W mutation in PLA2G6 segregates with dystonia-parkinsonism in a consanguineous Iranian family von Sina, F., Shojaee, S., Elahi, E., Paisán-Ruiz, C.

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Rapid disease progression in adult-onset mitochondrial membrane protein-associated neurodegeneration von Dogu, O, Krebs, CE, Kaleagasi, H, Demirtas, Z, Oksuz, N, Walker, RH, Paisán-Ruiz, C

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

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Phenotypic heterogeneity and full penetrance in a family with dopa-responsive dystonia von Karkheiran, S, Hubert, B, Moghaddam, HN, Darvish, H, Paisán-Ruiz, C

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Whole genome analysis in a consanguineous family with early onset Alzheimer's disease von Clarimón, J, Djaldetti, R, Lleó, A, Guerreiro, R.J, Molinuevo, J.L, Paisán-Ruiz, C, Gómez-Isla, T, Blesa, R, Singleton, A, Hardy, J

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LRRK2 gene in parkinson disease : Mutation analysis and case control association study von PAISAN-RUIZ, C, LANG, A. E, KAWARAI, T, SATO, C, SALEHI-RAD, S, FISMAN, G. K, AL-KHAIRALLAH, T, ST GEORGE-HYSLOP, P, SINGLETON, A, ROGAEVA, E

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Apolipoprotein E ε4 allele in familial and sporadic Parkinson's disease von BLAZQUEZ, L, OTAEGUI, D, SAENZ, A, PAISAN-RUIZ, C, EMPARANZA, J. I, RUIZ-MARTINEZ, J, MORENO, F, MARRI-MASSO, J. F, LOPEZ DE MUNAIN, A

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Clinical heterogeneity and genotype-phenotype correlations in hereditary spastic paraplegia because of Spatacsin mutations (SPG11) von Paisan-Ruiz, C., Nath, P., Wood, N. W., Singleton, A., Houlden, H.

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Testing association between LRRK2 and Parkinson’s disease and investigating linkage disequilibrium von 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

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SPG11 mutations are common in familial cases of complicated hereditary spastic paraplegia von PAISAN-RUIZ, C, DOGU, O, YILMAZ, A, HOULDEN, H, SINGLETON, A

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Parkin and PINK1 mutations in early-onset Parkinson’s disease: comprehensive screening in publicly available cases and control von Brooks, J, Ding, J, Simon-Sanchez, J, Paisan-Ruiz, C, Singleton, A B, Scholz, S W

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Cloning of the Gene Containing Mutations that Cause PARK8-Linked Parkinson's Disease von Paisán-Ruı́z, Coro, Jain, Shushant, Evans, E.Whitney, Gilks, William P., Simón, Javier, van der Brug, Marcel, de Munain, Adolfo López, Aparicio, Silvia, Gil, Angel Martı́nez, Khan, Naheed, Johnson, Janel, Martinez, Javier Ruiz, Nicholl, David, Carrera, Itxaso Marti, Peňa, Amets Saénz, de Silva, Rohan, Lees, Andrew, Martı́-Massó, José Félix, Pérez-Tur, Jordi, Wood, Nick W., Singleton, Andrew B.

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Genetic screening for a single common LRRK2 mutation in familial Parkinson's disease von Nichols, William C, Pankratz, Nathan, Hernandez, Dena, Paisán-Ruíz, Coro, Jain, Shushant, Halter, Cheryl A, Michaels, Veronika E, Reed, Terry, Rudolph, Alice, Shults, Clifford W, Singleton, Andrew, Foroud, Tatiana

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Loss of function mutation in a mitochondrial chaperone protein leading to dyregulated ROS production, and autoinflammatory disease in a single kindred von Standing, A, Eleftheriou, D, Paisan-Ruiz, C, Rowcenzio, D, Hong, Y, Omoyinmi, E, Woo, P, Hawkins, P, Lachmann, H, Klein, N, Brogan, P

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Clinical and positron emission tomography of Parkinson's disease caused by LRRK2 von Hernandez, Dena G., Paisán-Ruíz, Coro, McInerney-Leo, Aideen, Jain, Shushant, Meyer-Lindenberg, Andreas, Evans, E. Whitney, Berman, Karen F., Johnson, Janel, Auburger, Georg, Schäffer, Alejandro A., Lopez, Grisel J., Nussbaum, Robert L., Singleton, Andrew B.

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P1.060 Pathological observations in seven cases with neurodegeneration with brain iron accumulation (NBIA) with mutations in PANK2 and PLA2G6 von Li, A, Paisan-Ruiz, C, Bhatia, K, Schneider, S, Hardy, J, Kidd, D, Chataway, J, Holton, J, Houlden, H, Revesz, T

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Parkin and LRRK2/Dardarin Mutations in Early Onset Parkinson’s Disease in the Basque Country (Spain) von Massó, J. F. Martí, Ruiz-Martínez, J., Paisán-Ruiz, C., Gorostidi, A., Bergareche, A., de Munain, A. Lopez, Alzualde, A., Pérez-Tur, J.

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Dissection of the genetics of Parkinson's disease identifies an additional association 5' of SNCA and multiple associated haplotypes at 17q21 von Spencer, Chris C A, Plagnol, Vincent, Strange, Amy, Gardner, Michelle, Paisan-Ruiz, Coro, Band, Gavin, Barker, Roger A, Bellenguez, Celine, Bhatia, Kailash, Blackburn, Hannah, Blackwell, Jennie M, Bramon, Elvira, Brown, Martin A, Brown, Matthew A, Burn, David, Casas, Juan-Pablo, Chinnery, Patrick F, Clarke, Carl E, Corvin, Aiden, Craddock, Nicholas, Deloukas, Panos, Edkins, Sarah, Evans, Jonathan, Freeman, Colin, Gray, Emma, Hardy, John, Hudson, Gavin, Hunt, Sarah, Jankowski, Janusz, Langford, Cordelia, Lees, Andrew J, Markus, Hugh S, Mathew, Christopher G, McCarthy, Mark I, Morrison, Karen E, Palmer, Colin N A, Pearson, Justin P, Peltonen, Leena, Pirinen, Matti, Plomin, Robert, Potter, Simon, Rautanen, Anna, Sawcer, Stephen J, Su, Zhan, Trembath, Richard C, Viswanathan, Ananth C, Williams, Nigel W, Morris, Huw R, Donnelly, Peter, Wood, Nicholas W

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Apolipoprotein E epsilon4 allele in familial and sporadic Parkinson's disease von Blázquez, L, Otaegui, D, Sáenz, A, Paisán-Ruiz, C, Emparanza, J I, Ruiz-Martinez, J, Moreno, F, Martí-Massó, J F, López de Munain, A

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