A frequent LRRK2 gene mutation associated with autosomal dominant Parkinson's disease von Di Fonzo, Alessio, Rohé, Christan F, Ferreira, Joaquim, Chien, Hsin F, Vacca, Laura, Stocchi, Fabrizio, Guedes, Leonor, Fabrizio, Edito, Manfredi, Mario, Vanacore, Nicola, Goldwurm, Stefano, Breedveld, Guido, Sampaio, Cristina, Meco, Giuseppe, Barbosa, Egberto, Oostra, Ben A, Bonifati, Vincenzo

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A common missense variant in the LRRK2 gene, Gly2385Arg, associated with Parkinson's disease risk in Taiwan von DI FONZO, Alessio, WU-CHOU, Yah-Huei, BREEDVELD, Guido J, OOSTRA, Ben A, BONIFATI, Vincenzo, LU, Chin-Song, VAN DOESELAAR, Marina, SIMONS, Erik J, ROHE, Christan F, CHANG, Hsiu-Chen, CHEN, Rou-Shayn, WENG, Yi-Hsin, VANACORE, Nicola

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Comprehensive analysis of the LRRK2 gene in sixty families with Parkinson's disease von DI FONZO, Alessio, TASSORELLI, Cristina, MARCONI, Roberto, ABBRUZZESE, Giovanni, LOPIANO, Leonardo, FINCATI, Emiliana, GUIDI, Marco, MARINI, Paolo, STOCCHI, Fabrizio, ONOFRJ, Marco, TONI, Vincenzo, T, Michele, DE MARI, Michele, FABBRINI, Giovanni, LAMBERTI, Paolo, VANACORE, Nicola, MECO, Giuseppe, LEITNER, Petra, UITTI, Ryan J, WSZOLEK, Zbigniew K, GASSER, Thomas, SIMONS, Erik J, BREEDVELD, Guido J, CHIEN, Hsin F, GOLDWURM, Stefano, PEZZOLI, Gianni, SAMPAIO, Cristina, BARBOSA, Egberto, MARTIGNONI, Emilia, OOSTRA, Ben A, BONIFATI, Vincenzo, FERREIRA, Joaquim, ROHE, Christan F, RIBOLDAZZI, Giulio, ANTONINI, Angelo, ALBANI, Gianni, MAURO, Alessandro

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Distinct effects of single amino-acid changes to tuberin on the function of the tuberin-hamartin complex von NELLIST, Mark, SANCAK, Ozgur, GOEDBLOED, Miriam A, ROHE, Christan, VAN NETTEN, Diana, MAYER, Karin, TUCKER-WILLIAMS, Aimee, VAN DEN OUWELAND, Ans M. W, HALLEY, Dicky J. J

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Biological effects of the PINK1 c.1366C>T mutation : implications in Parkinson disease pathogenesis von GRÜNEWALD, Anne, BREEDVELD, Guido J, LESAGE, Suzanne, DÜRR, Alexandra, BINKOFSKI, Ferdinand, SIEBNER, Hartwig, MÜNCHAU, Alexander, BRICE, Alexis, OOSTRA, Ben A, KLEIN, Christine, BONIFATI, Vincenzo, LOHMANN-HEDRICH, Katja, ROHE, Christan F, KÖNIG, Inke R, HAGENAH, Johann, VANACORE, Nicola, MECO, Giuseppe, ANTONINI, Angelo, GOLDWURM, Stefano

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Homozygous PINK1 C-terminus mutation causing early-onset parkinsonism von Rohé, Christan F., Montagna, Pasquale, Breedveld, Guido, Cortelli, Pietro, Oostra, Ben A., Bonifati, Vincenzo

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The LRRK2 I2012T, G2019S, and I2020T mutations are rare in Taiwanese patients with sporadic Parkinson's disease von Lu, Chin-Song, Simons, Erik J., Wu-Chou, Yah-Huei, Fonzo, Alessio Di, Chang, Hsiu-Chen, Chen, Rou-Shayn, Weng, Yi-Hsin, Rohé, Christan F., Breedveld, Guido J., Hattori, Nobutaka, Gasser, Thomas, Oostra, Ben A., Bonifati, Vincenzo

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NPHP4 Variants Are Associated With Pleiotropic Heart Malformations von French, Vanessa M, van de Laar, Ingrid M.B.H, Wessels, Marja W, Rohe, Christan, Roos-Hesselink, Jolien W, Wang, Guangliang, Frohn-Mulder, Ingrid M.E, Severijnen, Lies-Anne, de Graaf, Bianca M, Schot, Rachel, Breedveld, Guido, Mientjes, Edwin, van Tienhoven, Marianne, Jadot, Elodie, Jiang, Zhengxin, Verkerk, Annemieke, Swagemakers, Sigrid, Venselaar, Hanka, Rahimi, Zohreh, Najmabadi, Hossein, Meijers-Heijboer, Hanne, de Graaff, Esther, Helbing, Wim A, Willemsen, Rob, Devriendt, Koen, Belmont, John W, Oostra, Ben A, Amack, Jeffrey D, Bertoli-Avella, Aida M

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Early-onset Parkinson's disease caused by a novel parkin mutation in a genetic isolate from north-eastern Brazil von CHIEN, Hsin F, ROHE, Christan F, COSTA, Maria D. L, BREEDVELD, Guido J, OOSTRA, Ben A, BARBOSA, Egberto R, BONIFATI, Vincenzo

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NPHP4 Variants Are Associated With Pleiotropic Heart Malformations von French, Vanessa M, van de Laar, Ingrid M.B.H, Wessels, Marja W, Rohe, Christan, Roos-Hesselink, Jolien W, Wang, Guangliang, Frohn-Mulder, Ingrid M.E, Severijnen, Lies-Anne, de Graaf, Bianca M, Schot, Rachel, Breedveld, Guido, Mientjes, Edwin, van Tienhoven, Marianne, Jadot, Elodie, Jiang, Zhengxin, Verkerk, Annemieke, Swagemakers, Sigrid, Venselaar, Hanka, Rahimi, Zohreh, Najmabadi, Hossein, Meijers-Heijboer, Hanne, de Graaff, Esther, Helbing, Wim A, Willemsen, Rob, Devriendt, Koenraad, Belmont, John W, Oostra, Ben A, Amack, Jeffrey D, Bertoli-Avella, Aida M

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