Evaluation of the interaction between LRRK2 and PARK16 loci in determining risk of Parkinson's disease: analysis of a large multicenter study

by Wang L., Heckman M.G., Aasly J.O., Annesi G., Bozi M., Chung S.J., Clarke C., Crosiers D., Eckstein G., Garraux G., Hadjigeorgiou G.M., Hattori N., Jeon B., Kim Y.J., Kubo M., Lesage S., Lin J.J., Lynch T., Lichtner P., Mellick G.D., Mok V., Morrison K.E., Quattrone A., Satake W., Silburn P.A., Stefanis L., Stockton J.D., Tan E.K., Toda T., Brice A., Van Broeckhoven C., Uitti R.J., Wirdefeldt K., Wszolek Z., Xiromerisiou G., Maraganore D.M., Gasser T., Krüger R., Farrer M.J., Ross O.A., Sharma M.
Published 2018

A large-scale genetic association study to evaluate the contribution of Omi/HtrA2 (PARK13) to Parkinson's disease

by Krüger R., Sharma M., Riess O., Gasser T., Van Broeckhoven C., Theuns J., Aasly J., Annesi G., Bentivoglio A.R., Brice A., Djarmati A., Elbaz A., Farrer M., Ferrarese C., Gibson J.M., Hadjigeorgiou G.M., Hattori N., Ioannidis J.P.A., Jasinska-Myga B., Klein C., Lambert J.-C., Lesage S., Lin J.-J., Lynch T., Mellick G.D., de Nigris F., Opala G., Prigione A., Quattrone A., Ross O.A., Satake W., Silburn P.A., Tan E.K., Toda T., Tomiyama H., Wirdefeldt K., Wszolek Z., Xiromerisiou G., Maraganore D.M.
Published 2018

Genome-wide association study of Parkinson's disease in East Asians

by Foo J.N., Tan L.C., Irwan I.D., Au W.-L., Low H.Q., Prakash K.-M., Ahmad-Annuar A., Bei J., Chan A.Y., Chen C.M., Chen Y.-C., Chung S.J., Deng H., Lim S.-Y., Mok V., Pang H., Pei Z., Peng R., Shang H.-F., Song K., Tan A.H., Wu Y.-R., Aung T., Cheng C.-Y., Chew F.T., Chew S.-H., Chong S.-A., Ebstein R.P., Lee J., Saw S.-M., Seow A., Subramaniam M., Tai E.-S., Vithana E.N., Wong T.-Y., Heng K.K., Meah W.-Y., Khor C.C., Liu H., Zhang F., Liu J., Tan E.-K.
Published 2018

Global investigation and meta-analysis of the C9orf72 (G4C2)n repeat in Parkinson disease

by Theuns J., Verstraeten A., Sleegers K., Wauters E., Gijselinck I., Smolders S., Crosiers D., Corsmit E., Elinck E., Sharma M., Krüger R., Lesage S., Brice A., Chung S.J., Kim M.-J., Kim Y.J., Ross O.A., Wszolek Z.K., Rogaeva E., Xi Z., Lang A.E., Klein C., Weissbach A., Mellick G.D., Silburn P.A., Hadjigeorgiou G.M., Dardiotis E., Hattori N., Ogaki K., Tan E.-K., Zhao Y., Aasly J., Valente E.M., Petrucci S., Annesi G., Quattrone A., Ferrarese C., Brighina L., Deutschländer A., Puschmann A., Nilsson C., Garraux G., LeDoux M.S., Pfeiffer R.F., Boczarska-Jedynak M., Opala G., Maraganore D.M., Engelborghs S., De Deyn P.P., Cras P., Cruts M., Van Broeckhoven C.
Published 2018

Large-scale assessment of polyglutamine repeat expansions in Parkinson disease

by Wang L., Aasly J.O., Annesi G., Bardien S., Bozi M., Brice A., Carr J., Chung S.J., Clarke C., Crosiers D., Deutschländer A., Eckstein G., Farrer M.J., Goldwurm S., Garraux G., Hadjigeorgiou G.M., Hicks A.A., Hattori N., Klein C., Jeon B., Kim Y.J., Lesage S., Lin J.-J., Lynch T., Lichtner P., Lang A.E., Mok V., Jasinska-Myga B., Mellick G.D., Morrison K.E., Opala G., PihlstrØm L., Pramstaller P.P., Park S.S., Quattrone A., Rogaeva E., Ross O.A., Stefanis L., Stockton J.D., Silburn P.A., Theuns J., Tan E.K., Tomiyama H., Toft M., Van Broeckhoven C., Uitti R.J., Wirdefeldt K., Wszolek Z., Xiromerisiou G., Yueh K.-C., Zhao Y., Gasser T., Maraganore D.M., Krüger R., Sharma M.
Published 2018

Large-scale replication and heterogeneity in Parkinson disease genetic loci

by Sharma M., Ioannidis J.P.A., Aasly J.O., Annesi G., Brice A., Van Broeckhoven C., Bertram L., Bozi M., Crosiers D., Clarke C., Facheris M., Farrer M., Garraux G., Gispert S., Auburger G., Vilariño-Güell C., Hadjigeorgiou G.M., Hicks A.A., Hattori N., Jeon B., Lesage S., Lill C.M., Lin J.-J., Lynch T., Lichtner P., Lang A.E., Mok V., Jasinska-Myga B., Mellick G.D., Morrison K.E., Opala G., Pramstaller P.P., Pichler I., Park S.S., Quattrone A., Rogaeva E., Ross O.A., Stefanis L., Stockton J.D., Satake W., Silburn P.A., Theuns J., Tan E.-K., Toda T., Tomiyama H., Uitti R.J., Wirdefeldt K., Wszolek Z., Xiromerisiou G., Yueh K.-C., Zhao Y., Gasser T., Maraganore D., Krüger R.
Published 2018

A common BIM deletion polymorphism mediates intrinsic resistance and inferior responses to tyrosine kinase inhibitors in cancer

by Ng, K.P., Hillmer, A.M., Chuah, C.T.H., Juan, W.C., Ko, T.K., Teo, A.S.M., Ariyaratne, P.N., Takahashi, N., Sawada, K., Fei, Y., Soh, S., Lee, W.H., Huang, J.W.J., Allen Jr., J.C., Woo, X.Y., Nagarajan, N., Kumar, V., Thalamuthu, A., Poh, W.T., Ang, A.L., Mya, H.T., How, G.F., Yang, L.Y., Koh, L.P., Chowbay, B., Chang, C.-T., Nadarajan, V.S., Chng, W.J., Than, H., Lim, L.C., Goh, Y.T., Zhang, S., Poh, D., Tan, P., Seet, J.-E., Ang, M.-K., Chau, N.-M., Ng, Q.-S., Tan, D.S.W., Soda, M., Isobe, K., Nöthen, M.M., Wong, T.Y., Shahab, A., Ruan, X., Cacheux-Rataboul, V., Sung, W.-K., Tan, E.H., Yatabe, Y., Mano, H., Soo, R.A., Chin, T.M., Lim, W.-T., Ruan, Y., Ong, S.T.
Published 2014

Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease

by Sidransky, E., Nalls, M.A., Aasly, J.O., Aharon-Peretz, J., Annesi, G., Barbosa, E.R., Bar-Shira, A., Berg, D., Bras, J., Brice, A., Chen, C.-M., Clark, L.N., Condroyer, C., De Marco, E.V., Dürr, A., Eblan, M.J., Fahn, S., Farrer, M.J., Fung, H.-C., Gan-Or, Z., Gasser, T., Gershoni-Baruch, R., Giladi, N., Griffith, A., Gurevich, T., Januario, C., Kropp, P., Lang, A.E., Lee-Chen, G.-J., Lesage, S., Marder, K., Mata, I.F., Mirelman, A., Mitsui, J., Mizuta, I., Nicoletti, G., Oliveira, C., Ottman, R., Orr-Urtreger, A., Pereira, L.V., Quattrone, A., Rogaeva, E., Rolfs, A., Rosenbaum, H., Rozenberg, R., Samii, A., Samaddar, T., Schulte, C., Sharma, M., Singleton, A., Spitz, M., Tan, E.-K., Tayebi, N., Toda, T., Troiano, A.R., Tsuji, S., Wittstock, M., Wolfsberg, T.G., Wu, Y.-R., Zabetian, C.P., Zhao, Y., Ziegler, S.G.
Published 2014

A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants

by Sharma M., Ioannidis J.P.A., Aasly J.O., Annesi G., Brice A., Bertram L., Bozi M., Barcikowska M., Crosiers D., Clarke C.E., Facheris M.F., Farrer M., Garraux G., Gispert S., Auburger G., Vilariño-Güell C., Hadjigeorgiou G.M., Hicks A.A., Hattori N., Jeon B.S., Jamrozik Z., Krygowska-Wajs A., Lesage S., Lill C.M., Lin J.-J., Lynch T., Lichtner P., Lang A.E., Libioulle C., Murata M., Mok V., Jasinska-Myga B., Mellick G.D., Morrison K.E., Meitnger T., Zimprich A., Opala G., Pramstaller P.P., Pichler I., Park S.S., Quattrone A., Rogaeva E., Ross O.A., Stefanis L., Stockton J.D., Satake W., Silburn P.A., Strom T.M., Theuns J., Tan E.K., Toda T., Tomiyama H., Uitti R.J., Van Broeckhoven C., Wirdefeldt K., Wszolek Z., Xiromerisiou G., Yomono H.S., Yueh K.-C., Zhao Y., Gasser T., Maraganore D., Krüger R.
Published 2018

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy

by Hengel, H., Bosso-Lefèvre, C., Grady, G., Szenker-Ravi, E., Li, H., Pierce, S., Lebigot, É., Tan, T.-T., Eio, M.Y., Narayanan, G., Utami, K.H., Yau, M., Handal, N., Deigendesch, W., Keimer, R., Marzouqa, H.M., Gunay-Aygun, M., Muriello, M.J., Verhelst, H., Weckhuysen, S., Mahida, S., Naidu, S., Thomas, T.G., Lim, J.Y., Tan, E.S., Haye, D., Willemsen, M.A.A.P., Oegema, R., Mitchell, W.G., Pierson, T.M., Andrews, M.V., Willing, M.C., Rodan, L.H., Barakat, T.S., van Slegtenhorst, M., Gavrilova, R.H., Martinelli, D., Gilboa, T., Tamim, A.M., Hashem, M.O., AlSayed, M.D., Abdulrahim, M.M., Al-Owain, M., Awaji, A., Mahmoud, A.A.H., Faqeih, E.A., Asmari, A.A., Algain, S.M., Jad, L.A., Aldhalaan, H.M., Helbig, I., Koolen, D.A., Riess, A., Kraegeloh-Mann, I., Bauer, P., Gulsuner, S., Stamberger, H., Ng, A.Y.J., Tang, S., Tohari, S., Keren, B., Schultz-Rogers, L.E., Klee, E.W., Barresi, S., Tartaglia, M., Mor-Shaked, H., Maddirevula, S., Begtrup, A., Telegrafi, A., Pfundt, R., Schüle, R., Ciruna, B., Bonnard, C., Pouladi, M.A., Stewart, J.C., Claridge-Chang, A., Lefeber, D.J., Alkuraya, F.S., Mathuru, A.S., Venkatesh, B., Barycki, J.J., Simpson, M.A., Jamuar, S.S., Schöls, L., Reversade, B.
Published 2021