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Acta Neuropathologica, ISSN 0001-6322, 05/2013, Volume 125, Issue 5, pp. 753 - 769
We report a British family with young-onset Parkinson's disease (PD) and a G51D SNCA mutation that segregates with the disease. Family history was consistent... 
Multiple system atrophy | α-Synuclein | Parkinson's disease | SNCA | Atrophy | Ubiquitin | Family | Genetic aspects | Dopa
Journal Article
by Nalls, Mike A and Pankratz, Nathan and Lill, Christina M and Do, Chuong B and Hernandez, Dena G and Saad, Mohamad and DeStefano, Anita L and Kara, Eleanna and Bras, Jose and Sharma, Manu and Schulte, Claudia and Keller, Margaux F and Arepalli, Sampath and Letson, Christopher and Edsall, Connor and Stefansson, Hreinn and Liu, Xinmin and Pliner, Hannah and Lee, Joseph H and Cheng, Rong and Ikram, M. Arfan and Ioannidis, John P. A and Hadjigeorgiou, Georgios M and Bis, Joshua C and Martinez, Maria and Perlmutter, Joel S and Goate, Alison and Marder, Karen and Fiske, Brian and Sutherland, Margaret and Xiromerisiou, Georgia and Myers, Richard H and Clark, Lorraine N and Stefansson, Kari and Hardy, John A and Heutink, Peter and Chen, Honglei and Wood, Nicholas W and Houlden, Henry and Payami, Haydeh and Brice, Alexis and Scott, William K and Gasser, Thomas and Bertram, Lars and Eriksson, Nicholas and Foroud, Tatiana and Singleton, Anew B and Plagnol, Vincent and Sheerin, Una-Marie and Simón-Sánchez, Javier and Lesage, Suzanne and Sveinbjörnsdóttir, Sigurlaug and Barker, Roger and Ben-Shlomo, Yoav and Berendse, Henk W and Berg, Daniela and Bhatia, Kailash and de Bie, Rob M. A and Biffi, Alessano and Bloem, Bas and Bochdanovits, Zoltan and Bonin, Michael and Bras, Jose M and Brockmann, Kathrin and Brooks, Janet and Burn, David J and Charlesworth, Gavin and Chinnery, Patrick F and Chong, Sean and Clarke, Carl E and Cookson, Mark R and Cooper, J. Mark and Corvol, Jean Christophe and Counsell, Carl and Damier, Philippe and Dartigues, Jean-François and Deloukas, Panos and Deuschl, Günther and Dexter, David T and van Dijk, Karin D and Dillman, Allissa and Durif, Frank and Dürr, Alexana and Edkins, Sarah and Evans, Jonathan R and Foltynie, Thomas and Dong, Jing and Gardner, Michelle and Gibbs, J. Raphael and Gray, Emma and Guerreiro, Rita and Harris, Clare and van Hilten, Jacobus J and Hofman, Albert and Hollenbeck, Albert and Holton, Janice and Hu, Michele and Huang, Xuemei and Wurster, Isabel and Mätzler, Walter and ... and GenePD and IPDG and Ashkenazi Jewish Dataset Investiga and 23AndMe and NABEC and HIHG and Greek Parkinson's Dis Consortium and GParkinson's Study Grp PSG Parkins and NGRC and Alzheimer Genetic Analysis Gr and CHARGE and UKBEC and Parkinson's Study Group (PSG) Parkinson's Research: The Organized GENetics Initiative (PROGENI) and Hussman Institute of Human Genomics (HIHG) and 23andMe and Greek Parkinson's Disease Consortium and International Parkinson's Disease Genomics Consortium (IPDGC) and Cohorts for Health and Aging Research in Genetic Epidemiology (CHARGE) and United Kingdom Brain Expression Consortium (UKBEC) and NeuroGenetics Research Consortium (NGRC) and Ashkenazi Jewish Dataset Investigator and North American Brain Expression Consortium (NABEC) and Alzheimer Genetic Analysis Group and The Ashkenazi Jewish Dataset Investigator
Nature genetics, ISSN 1061-4036, 2014, Volume 46, Issue 9, pp. 989 - +
Journal Article
Trends in Molecular Medicine, ISSN 1471-4914, 12/2018, Volume 24, Issue 12, pp. 1007 - 1020
Journal Article
Molecular Neurodegeneration, ISSN 1750-1326, 08/2015, Volume 10, Issue 1, p. 41
Journal Article
Journal of Biological Chemistry, ISSN 0021-9258, 08/2018, Volume 293, Issue 34, pp. 13247 - 13256
Journal Article
Journal Article
Journal Article