Search Results - "Rohé, Christan F."

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

“…Two homozygous mutations in the PINK1 gene, encoding a mitochondrial putative protein kinase, recently have been identified in families with PARK6‐linked,…”
Get full text

A frequent LRRK2 gene mutation associated with autosomal dominant Parkinson's disease by 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

“…Mutations in the LRRK2 gene have been identified in families with autosomal dominant parkinsonism. We amplified and sequenced the coding region of LRRK2 from…”
Get full text

A common missense variant in the LRRK2 gene, Gly2385Arg, associated with Parkinson's disease risk in Taiwan by 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

“…Mutations in the LRRK2 gene are a cause of autosomal dominant Parkinson's disease (PD). Whether LRRK2 variants influence susceptibility to the commoner,…”
Get full text

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

“…We describe clinical and molecular findings in a genetic isolate from north-eastern Brazil with early-onset Parkinson's disease (PD) and a novel mutation in…”
Get full text

Comprehensive analysis of the LRRK2 gene in sixty families with Parkinson's disease by 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

“…Mutations in the gene leucine-rich repeat kinase 2 (LRRK2) have been recently identified in families with Parkinson's disease (PD). However, the prevalence and…”
Get full text

The LRRK2 I2012T, G2019S, and I2020T mutations are rare in Taiwanese patients with sporadic Parkinson's disease by 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

Get full text

Biological effects of the PINK1 c.1366C>T mutation : implications in Parkinson disease pathogenesis by 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

“…PINK1 gene mutations are a cause of recessively inherited, early-onset Parkinson's disease. In some patients, a single heterozygous mutation has been…”
Get full text