Search Results - "SIMONS, Erik J"

Broadening the phenotype of TARDBP mutations: the TARDBP Ala382Thr mutation and Parkinson’s disease in Sardinia by Quadri, Marialuisa, Cossu, Giovanni, Saddi, Valeria, Simons, Erik J., Murgia, Daniela, Melis, Maurizio, Ticca, Anna, Oostra, Ben A., Bonifati, Vincenzo

“…Mutations in the TARDBP gene are a cause of autosomal dominant amyotrophic lateral sclerosis (ALS) and of frontotemporal lobar degeneration (FTLD), but they…”
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Strategies for B-cell receptor repertoire analysis in primary immunodeficiencies: from severe combined immunodeficiency to common variable immunodeficiency by IJspeert, Hanna, Wentink, Marjolein, van Zessen, David, Driessen, Gertjan J, Dalm, Virgil A S H, van Hagen, Martin P, Pico-Knijnenburg, Ingrid, Simons, Erik J, van Dongen, Jacques J M, Stubbs, Andrew P, van der Burg, Mirjam

“…The antigen receptor repertoires of B- and T-cells form the basis of the adaptive immune response. The repertoires should be sufficiently diverse to recognize…”
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Multiple Regulatory Elements Contribute to the Vascular-specific Expression of the Rice HD-Zip Gene Oshox1 in Arabidopsis by Scarpella, Enrico, Simons, Erik J., Meijer, Annemarie H.

“…The primary vascular tissues of plants differentiate from a single precursor tissue, the procambium. The role of upstream regulatory sequences in the…”
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The LRRK2 R1441C mutation is more frequent than G2019S in Parkinson's disease patients from Southern Italy by Criscuolo, Chiara, De Rosa, Anna, Guacci, Anna, Simons, Erik J., Breedveld, Guido J., Peluso, Silvio, Volpe, Giampiero, Filla, Alessandro, Oostra, Ben A., Bonifati, Vincenzo, De Michele, Giuseppe

“…Background: Mutations in the leucine‐rich repeat kinase 2 gene are the most frequent cause of familial and sporadic Parkinson's disease, and G2019S is the most…”
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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,…”
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Analysis of LRRK2 , SNCA , Parkin , PINK1 , and DJ-1 in Zambian patients with Parkinson's disease by Yonova-Doing, Ekaterina, Atadzhanov, Masharip, Quadri, Marialuisa, Kelly, Paul, Shawa, Nyambura, Musonda, Sheila T.S, Simons, Erik J, Breedveld, Guido J, Oostra, Ben A, Bonifati, Vincenzo

“…Abstract Recent studies delineate substantial genetic components in Parkinson's disease (PD). However, very few studies were performed in Sub-Saharan African…”
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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…”
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LRRK2 G2019S mutation and Parkinson's disease: A clinical, neuropsychological and neuropsychiatric study in a large Italian sample by Goldwurm, Stefano, Zini, Michela, Di Fonzo, Alessio, De Gaspari, Danilo, Siri, Chiara, Simons, Erik J., van Doeselaar, Marina, Tesei, Silvana, Antonini, Angelo, Canesi, Margherita, Zecchinelli, Anna, Mariani, Claudio, Meucci, Nicoletta, Sacilotto, Giorgio, Cilia, Roberto, Isaias, Ioannis U., Bonetti, A., Sironi, Francesca, Ricca, Sara, Oostra, Ben A., Bonifati, Vincenzo, Pezzoli, Gianni

“…We analysed the Leucine-Rich Repeat Kinase 2 ( LRRK2) gene for the G2019S mutation in 1245 consecutive, unrelated patients with primary degenerative…”
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Autosomal dominant restless legs syndrome maps to chromosome 20p13 (RLS-5) in a Dutch kindred by Sas, Antonetta M.G., Di Fonzo, Alessio, Bakker, Stef L.M., Simons, Erik J., Oostra, Ben A., Maat-Kievit, Anneke J., Boon, Agnita J.W., Bonifati, Vincenzo

“…Six chromosomal loci have been mapped for restless legs syndrome (RLS) through family‐based linkage analysis (RLS‐1 to RLS‐6), but confirmation has met with…”
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The LRRK2 Arg1628Pro variant is a risk factor for Parkinson’s disease in the Chinese population by Lu, Chin-Song, Wu-Chou, Yah-Huei, van Doeselaar, Marina, Simons, Erik J., Chang, Hsiu-Chen, Breedveld, Guido J., Di Fonzo, Alessio, Chen, Rou-Shayn, Weng, Yi-Hsin, Lai, Szu-Chia, Oostra, Ben A., Bonifati, Vincenzo

“…The c.G4883C variant in the leucine-rich repeat kinase 2 ( LRRK2 ) gene (protein effect: Arg1628Pro) has been recently proposed as a second risk factor for…”
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Familial frontotemporal dementia with parkinsonism associated with the progranulin c.C1021T (p.Q341X) mutation by Di Fabio, Roberto, Tessa, Alessandra, Simons, Erik J, Santorelli, Filippo M, Casali, Carlo, Serrao, Mariano, Pierelli, Francesco, Bonifati, Vincenzo

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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

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GIGYF2 mutations are not a frequent cause of familial Parkinson's disease by Di Fonzo, Alessio, Fabrizio, Edito, Thomas, Astrid, Fincati, Emiliana, Marconi, Roberto, Tinazzi, Michele, Breedveld, Guido J, Simons, Erik J, Chien, Hsin F, Ferreira, Joaquim J, Horstink, Martin W, Abbruzzese, Giovanni, Borroni, Barbara, Cossu, Giovanni, Libera, Alessio Dalla, Fabbrini, Giovanni, Guidi, Marco, De Mari, Michele, Lopiano, Leonardo, Martignoni, Emilia, Marini, Paolo, Onofrj, Marco, Padovani, Alessandro, Stocchi, Fabrizio, Toni, Vincenzo, Sampaio, Cristina, Barbosa, Egberto R, Meco, Giuseppe, Oostra, Ben A, Bonifati, Vincenzo

“…Abstract Mutations in the Grb10-interacting GYF protein 2 ( GIGYF2 ) gene, within the PARK11 locus, have been nominated as a cause of Parkinson's disease in…”
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The LRRK2 R1441C mutation is more frequent than G2019S in Parkinson's disease patients from Southern Italy: LRRK2 R1441C Mutation More Frequent in Southern Italy by Criscuolo, Chiara, De Rosa, Anna, Guacci, Anna, Simons, Erik J., Breedveld, Guido J., Peluso, Silvio, Volpe, Giampiero, Filla, Alessandro, Oostra, Ben A., Bonifati, Vincenzo, De Michele, Giuseppe

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The LRRK2 R1441 C Mutation is More Frequent Than G2019S in Parkinson's Disease Patients from Southern Italy by CRISCUOLO, Chiara, DE ROSA, Anna, DE MICHELE, Giuseppe, GUACCI, Anna, SIMONS, Erik J, BREEDVELD, Guido J, PELUSO, Silvio, VOLPE, Giampiero, FILLA, Alessandro, OOSTRA, Ben A, BONIFATI, Vincenzo

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The LRRK2 Argl628Pro variant is a risk factor for Parkinson's disease in the Chinese population by LU, Chin-Song, WU-CHOU, Yah-Huei, OOSTRA, Ben A, BONIFATI, Vincenzo, VAN DOESELAAR, Marina, SIMONS, Erik J, CHANG, Hsiu-Chen, BREEDVELD, Guido J, DI FONZO, Alessio, CHEN, Rou-Shayn, WENG, Yi-Hsin, LAI, Szu-Chia

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