GIGYF2 has no major role in Parkinson genetic etiology in a Belgian population

Autor: Meeus, Bram, Nuytemans, Karen, Crosiers, David, Engelborghs, Sebastiaan, Pals, Philippe, Pickut, Barbara, Peeters, Karin, Mattheijssens, Maria, Corsmit, Ellen, Cras, Patrick, De Deyn, Peter Paul, Theuns, Jessie, Van Broeckhoven, Christine

Publikováno v: In Neurobiology of Aging February 2011 32(2):308-312

DLB and PDD: a role for mutations in dementia and Parkinson disease genes?

Autor: Meeus, Bram, Verstraeten, Aline, Crosiers, David, Engelborghs, Sebastiaan, Van den Broeck, Marleen, Mattheijssens, Maria, Peeters, Karin, Corsmit, Ellen, Elinck, Ellen, Pickut, Barbara, Vandenberghe, Rik, Cras, Patrick, De Deyn, Peter Paul, Van Broeckhoven, Christine, Theuns, Jessie

Publikováno v: In Neurobiology of Aging March 2012 33(3):629-629

**Guanosine triphosphate cyclohydrolase 1** promoter deletion causes dopa-responsive dystonia

Autor: Theuns, Jessie, Crosiers, David, Debaene, Luc, Nuytemans, Karen, Meeus, Bram, Sleegers, Kristel, Goossens, Dirk, Corsmit, Ellen, Elinck, Ellen, Peeters, Karin, Mattheijssens, Maria, Pickut, Barbara, Del-Favero, Jurgen, Engelborghs, Sebastiaan, De Deyn, Peter Paul, Cras, Patrick, Van Broeckhoven, Christine

Publikováno v: Movement disorders: video, videotape supplements

Background: Autosomal dominant dopa-responsive dystonia (AD-DRD) is caused by a biochemical defect primarily resulting from guanosine triphosphate cyclohydrolase 1 gene (GCH1) mutations. Few families have been reported without mutations in GCH1. Meth

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2097::2b971c901284ddb28db5bea3f0e809d3
https://hdl.handle.net/10067/1010600151162165141

Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study

Autor: Ross, Owen A, Soto-Ortolaza, Alexandra I, Brighina, Laura, Riess, Olaf, Klein, Christine, Djarmati, Ana, Hagenah, Johann, Lohmann, Katja, van de Loo, Simone, Abahuni, Nadine, Gispert-Sánchez, Suzana, Hilker, Rüdiger, Auburger, Georg, Van Broeckhoven, Christine, Xiromerisiou, Georgia, Tsimourtou, Vaia, Ralli, Styliani, Kountra, Persa, Markou, Katerina, Patramani, Gianna, Vogiatzi, Christina, Lynch, Tim, Gibson, J Mark, Craig, Dr David, Carr, Jonathan, Valente, Enza Maria, Ferraris, Alessandro, Bentivoglio, Anna Rita, Ialongo, Tamara, Guidubaldi, Arianna, Piano, Carla, Ferrarese, Carlo, Tarantino, Patrizia, Annesi, Ferdinanda, Chartier-Harlin, Marie-Christine, Annesi, Grazia, Quattrone, Aldo, Hattori, Nobutaka, Tomiyama, Hiroyuki, Funayama, Manabu, Yoshino, Hiroyo, Li, Yuanzhe, Imamichi, Yoko, Toda, Tatsushi, Satake, Wataru, Dardiotis, Efthimios, Aasly, J., Opala, Grzegorz, Jasinska-Myga, Barbara, Boczarska-Jedynak, Magdalena, Tan, Eng King, Bardien, Soraya, Jeon, Beom Seok, Park, Sung Sup, Kim, Yun Joong, Dickson, Dennis W, Sohn, Young Ho, Belin, Andrea Carmine, Olson, Lars, Galter, Dagmar, Westerlund, Marie, Sydow, Olof, Pedersen, Nancy L, Wirdefeldt, Karin, Nilsson, Christer, Puschmann, Andreas, Diehl, Nancy N, Wu, Ruey-Meei, Maraganore, Demetrius M, Ahlskog, Eric, de Andrade, Mariza, Lesnick, Timothy G, Rocca, Walter A, Checkoway, Harvey, Farrer, M., Elbaz, Alexis, Heckman, Michael G, Fiske, Brian, Gibson, Rachel, Hadjigeorgiou, Georgios M, Ioannidis, John P A, Jeon, Beom S, Aasly, Jan O, Kruger, Rejko, Kyratzi, Elli, Lesage, Suzanne, Lin, Chin-Hsien, Lynch, Timothy, Mellick, George D, Mutez, Eugénie, Sharma, Manu, Silburn, Peter A, Stefanis, Leonidas, Tadic, Vera, Theuns, Jessie, Uitti, Ryan J, Vassilatis, Demetrios K, Vilariño-Güell, Carles, White, Linda R, Wszolek, Zbigniew K, Farrer, Matthew J, Bacon, Justin A, Disease, Genetic Epidemiology Of Parkinson's, Sutherland, G. T., Siebert, G. A., Nuytemans, Karen, Meeus, Bram, Crosiers, David, Pickut, Barbara, Engelborghs, Sebastiaan, De Deyn, Peter P, Cras, Patrick, Rogaeve, Ekaterina, Destée, A., Agid, Y., Anheim, M., Bonnet, A-M, Borg, M., Bozi, Maria, Brice, A., Broussolle, E., Corvol, J. C., Damier, P., Dürr, A., Durif, F., Lesage, S., Lohmann, E., Pollak, P., Brice, Alexis, Rascol, O., Tison, F., Tranchant, C., Viallet, F., Vidailhet, M., Gasser, Thomas, Krüger, Rejko, Berg, Daniela, Schulte, Claudia

Publikováno v: The lancet neurology
The lancet / Neurology 10(10), 898-908 (2011). doi:10.1016/S1474-4422(11)70175-2
The Lancet Neurology, Vol. 10, No 10 (2011) pp. 898-908

BACKGROUND: Background The leucine-rich repeat kinase 2 gene (LRRK2) harbours highly penetrant mutations that are linked to familial parkinsonism. However, the extent of its polymorphic variability in relation to risk of Parkinson's disease (PD) has

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c760baf6e72eae84c3dd69f2ee368f5
http://hdl.handle.net/10281/33182

Korte screening voor niet-motorische symptomen bij de ziekte van Parkinson

Autor: Crosiers, David, Nuytemans, Karen, Meeus, Bram, Theuns, Jessie, Van Broeckhoven, Christine, Cras, Patrick

Publikováno v: Tijdschrift voor neurologie en neurochirurgie

Naast motorische symptomen wordt de ziekte van Parkinson gekenmerkt door talrijke nietmotorische symptomen die een negatieve impact hebben op de kwaliteit van leven van de patiënt. Er bestaat reeds een korte Engelstalige vragenlijst die de patiënt

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2097::b085d563899e9581f4066fd87d8c1f7a
https://hdl.handle.net/10067/828400151162165141