Broadening the phenotype of TARDBP mutations: the TARDBP Ala382Thr mutation and Parkinson’s disease in Sardinia
Quadri, Marialuisa, Cossu, Giovanni, Saddi, Valeria, Simons, Erik J., Murgia, Daniela, Melis, Maurizio, Ticca, Anna, Oostra, Ben A., Bonifati, Vincenzo
Published in Neurogenetics (01.08.2011)
Published in Neurogenetics (01.08.2011)
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XLF deficiency results in reduced N-nucleotide addition during V(D)J recombination
IJspeert, Hanna, Rozmus, Jacob, Schwarz, Klaus, Warren, René L., van Zessen, David, Holt, Robert A., Pico-Knijnenburg, Ingrid, Simons, Erik, Jerchel, Isabel, Wawer, Angela, Lorenz, Myriam, Patıroğlu, Turkan, Akar, Himmet Haluk, Leite, Ricardo, Verkaik, Nicole S., Stubbs, Andrew P., van Gent, Dik C., van Dongen, Jacques J.M., van der Burg, Mirjam
Published in Blood (04.08.2016)
Published in Blood (04.08.2016)
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The LRRK2 R1441C mutation is more frequent than G2019S in Parkinson's disease patients from Southern Italy
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
Published in Movement disorders (01.08.2011)
Published in Movement disorders (01.08.2011)
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A common missense variant in the LRRK2 gene, Gly2385Arg, associated with Parkinson's disease risk in Taiwan
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
Published in Neurogenetics (01.07.2006)
Published in Neurogenetics (01.07.2006)
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Strategies for B-cell receptor repertoire analysis in primary immunodeficiencies: from severe combined immunodeficiency to common variable immunodeficiency
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
Published in Frontiers in immunology (08.04.2015)
Published in Frontiers in immunology (08.04.2015)
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Analysis of LRRK2 , SNCA , Parkin , PINK1 , and DJ-1 in Zambian patients with Parkinson's disease
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
Published in Parkinsonism & related disorders (01.06.2012)
Published in Parkinsonism & related disorders (01.06.2012)
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Comprehensive analysis of the LRRK2 gene in sixty families with Parkinson's disease
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
Published in European journal of human genetics : EJHG (01.03.2006)
Published in European journal of human genetics : EJHG (01.03.2006)
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LRRK2 G2019S mutation and Parkinson's disease: A clinical, neuropsychological and neuropsychiatric study in a large Italian sample
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
Published in Parkinsonism & related disorders (01.10.2006)
Published in Parkinsonism & related disorders (01.10.2006)
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Autosomal dominant restless legs syndrome maps to chromosome 20p13 (RLS-5) in a Dutch kindred
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
Published in Movement disorders (15.08.2010)
Published in Movement disorders (15.08.2010)
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The LRRK2 Arg1628Pro variant is a risk factor for Parkinson’s disease in the Chinese population
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
Published in Neurogenetics (01.10.2008)
Published in Neurogenetics (01.10.2008)
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Familial frontotemporal dementia with parkinsonism associated with the progranulin c.C1021T (p.Q341X) mutation
Di Fabio, Roberto, Tessa, Alessandra, Simons, Erik J, Santorelli, Filippo M, Casali, Carlo, Serrao, Mariano, Pierelli, Francesco, Bonifati, Vincenzo
Published in Parkinsonism & related disorders (01.08.2010)
Published in Parkinsonism & related disorders (01.08.2010)
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The LRRK2 I2012T, G2019S, and I2020T mutations are rare in Taiwanese patients with sporadic Parkinson's disease
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
Published in Parkinsonism & related disorders (01.12.2005)
Published in Parkinsonism & related disorders (01.12.2005)
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GIGYF2 mutations are not a frequent cause of familial Parkinson's disease
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
Published in Parkinsonism & related disorders (01.11.2009)
Published in Parkinsonism & related disorders (01.11.2009)
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Evidence for novel loci for late-onset Parkinson's disease in a genetic isolate from the netherlands
BERTOLI-AVELLA, Aida M, DEKKER, Marieke C. J, BONIFATI, Vincenzo, HEUTINK, Peter, VAN DUIJN, Cornelia M, OOSTRA, Ben A, AULCHENKO, Yurii S, HOUWING-DUISTERMAAT, Jeanine J, SIMONS, Erik, TESTERS, Leon, PARDO, Luba M, RADEMAKER, Tessa A. M, SNIJDERS, Pieter J. L. M, VAN SWIETEN, John C
Published in Human genetics (01.03.2006)
Published in Human genetics (01.03.2006)
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CD21 and CD19 deficiency: Two defects in the same complex leading to different disease modalities
Wentink, Marjolein W.J, Lambeck, Annechien J.A, van Zelm, Menno C, Simons, Erik, van Dongen, Jacques J.M, IJspeert, Hanna, Schölvinck, Elisabeth H, van der Burg, Mirjam
Published in Clinical immunology (Orlando, Fla.) (01.12.2015)
Published in Clinical immunology (Orlando, Fla.) (01.12.2015)
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A reliable cell-based assay for testing unclassified TSC2 gene variants
COEVOETS, Ricardo, ARICAN, Sermin, HOOGEVEEN-WESTERVELD, Marianne, SIMONS, Erik, VAN DEN OUWELAND, Ans, HALLEY, Dicky, NELLIST, Mark
Published in European journal of human genetics : EJHG (01.03.2009)
Published in European journal of human genetics : EJHG (01.03.2009)
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Comprehensive LRRK2 and GBA screening in Portuguese patients with Parkinson's disease: Identification of a new family with the LRRK2 p.Arg1441His mutation and novel missense variants
Zhang, Lei, Quadri, Marialuisa, Guedes, Leonor Correia, Coelho, Miguel, Valadas, Anabela, Mestre, Tiago, Lobo, Patrícia Pita, Rosa, Mário Miguel, Simons, Erik, Oostra, Ben A, Ferreira, Joaquim J, Bonifati, Vincenzo
Published in Parkinsonism & related disorders (01.10.2013)
Published in Parkinsonism & related disorders (01.10.2013)
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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
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
Published in Movement disorders (01.08.2011)
Published in Movement disorders (01.08.2011)
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Journal Article
The LRRK2 R1441 C Mutation is More Frequent Than G2019S in Parkinson's Disease Patients from Southern Italy
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
Published in Movement disorders (2011)
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Published in Movement disorders (2011)
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