Occurrence of Amyotrophic Lateral Sclerosis in Type 1 Gaucher Disease.
Neurology. Genetics
Oliveira, Lais M LM; Rastin, Tara T; Nimmo, Graeme A M GAM; Ross, Jay P JP; Dion, Patrick A PA; Zhang, Ming M; Nevay, Dayna-Lynn DL; Arkadir, David D; Gotkine, Marc M; Barnett, Carolina C; Shoesmith, Christen L CL; Zimran, Ari A; Rogaeva, Ekaterina A EA; Zinman, Lorne L; Rouleau, Guy A GA; Gan-Or, Ziv Z; Amato, Dominick D; Kalia, Lorraine V LV
Association of Dual LRRK2 G2019S and GBA Variations With Parkinson Disease Progression.
Jama Network Open
Ortega, Roberto A RA; Wang, Cuiling C; Raymond, Deborah D; Bryant, Nicole N; Scherzer, Clemens R CR; Thaler, Avner A; Alcalay, Roy N RN; West, Andrew B AB; Mirelman, Anat A; Kuras, Yuliya Y; Marder, Karen S KS; Giladi, Nir N; Ozelius, Laurie J LJ; Bressman, Susan B SB; Saunders-Pullman, Rachel R
A Large-Scale Full GBA1 Gene Screening in Parkinson's Disease in the Netherlands.
Movement Disorders : Official Journal Of The Movement Disorder Society
den Heijer, Jonas M JM; Cullen, Valerie C VC; Quadri, Marialuisa M; Schmitz, Arnoud A; Hilt, Dana C DC; Lansbury, Peter P; Berendse, Henk W HW; van de Berg, Wilma D J WDJ; de Bie, Rob M A RMA; Boertien, Jeffrey M JM; Boon, Agnita J W AJW; Contarino, M Fiorella MF; van Hilten, Jacobus J JJ; Hoff, Jorrit I JI; van Mierlo, Tom T; Munts, Alex G AG; van der Plas, Anne A AA; Ponsen, Mirthe M MM; Baas, Frank F; Majoor-Krakauer, Danielle D; Bonifati, Vincenzo V; van Laar, Teus T; Groeneveld, Geert J GJ
Publication Date: 2020-09
Variant appearance in text: GBA: Glu427Lys; rs149171124
Analysis of neurodegenerative disease-causing genes in dementia with Lewy bodies.
Acta Neuropathologica Communications
Orme, Tatiana T; Hernandez, Dena D; Ross, Owen A OA; Kun-Rodrigues, Celia C; Darwent, Lee L; Shepherd, Claire E CE; Parkkinen, Laura L; Ansorge, Olaf O; Clark, Lorraine L; Honig, Lawrence S LS; Marder, Karen K; Lemstra, Afina A; Rogaeva, Ekaterina E; St George-Hyslop, Peter P; Londos, Elisabet E; Zetterberg, Henrik H; Morgan, Kevin K; Troakes, Claire C; Al-Sarraj, Safa S; Lashley, Tammaryn T; Holton, Janice J; Compta, Yaroslau Y; Van Deerlin, Vivianna V; Trojanowski, John Q JQ; Serrano, Geidy E GE; Beach, Thomas G TG; Lesage, Suzanne S; Galasko, Douglas D; Masliah, Eliezer E; Santana, Isabel I; Pastor, Pau P; Tienari, Pentti J PJ; Myllykangas, Liisa L; Oinas, Minna M; Revesz, Tamas T; Lees, Andrew A; Boeve, Brad F BF; Petersen, Ronald C RC; Ferman, Tanis J TJ; Escott-Price, Valentina V; Graff-Radford, Neill N; Cairns, Nigel J NJ; Morris, John C JC; Pickering-Brown, Stuart S; Mann, David D; Halliday, Glenda G; Stone, David J DJ; Dickson, Dennis W DW; Hardy, John J; Singleton, Andrew A; Guerreiro, Rita R; Bras, Jose J
Publication Date: 2020-01-29
Variant appearance in text: GBA: Glu427Lys; rs149171124
The distribution and risk effect of GBA variants in a large cohort of PD patients from Colombia and Peru.
Parkinsonism & Related Disorders
Velez-Pardo, Carlos C; Lorenzo-Betancor, Oswaldo O; Jimenez-Del-Rio, Marlene M; Moreno, Sonia S; Lopera, Francisco F; Cornejo-Olivas, Mario M; Torres, Luis L; Inca-Martinez, Miguel M; Mazzetti, Pilar P; Cosentino, Carlos C; Yearout, Dora D; Waldherr, Sarah M SM; Zabetian, Cyrus P CP; Mata, Ignacio F IF
Mixed ductal-lobular carcinomas: evidence for progression from ductal to lobular morphology.
The Journal Of Pathology
McCart Reed, Amy E AE; Kutasovic, Jamie R JR; Nones, Katia K; Saunus, Jodi M JM; Da Silva, Leonard L; Newell, Felicity F; Kazakoff, Stephen S; Melville, Lewis L; Jayanthan, Janani J; Vargas, Ana Cristina AC; Reid, Lynne E LE; Beesley, Jonathan J; Chen, Xiao Qing XQ; Patch, Anne-Marie AM; Clouston, David D; Porter, Alan A; Evans, Elizabeth E; Pearson, John V JV; Chenevix-Trench, Georgia G; Cummings, Margaret C MC; Waddell, Nicola N; Lakhani, Sunil R SR; Simpson, Peter T PT
Publication Date: 2018-04
Variant appearance in text: GBA: 1279G>A; Glu427Lys; rs149171124
Resequencing analysis of five Mendelian genes and the top genes from genome-wide association studies in Parkinson's Disease.
Molecular Neurodegeneration
Benitez, Bruno A BA; Davis, Albert A AA; Jin, Sheng Chih SC; Ibanez, Laura L; Ortega-Cubero, Sara S; Pastor, Pau P; Choi, Jiyoon J; Cooper, Breanna B; Perlmutter, Joel S JS; Cruchaga, Carlos C
Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population.
Plos Genetics
Haiman, Christopher A CA; Han, Ying Y; Feng, Ye Y; Xia, Lucy L; Hsu, Chris C; Sheng, Xin X; Pooler, Loreall C LC; Patel, Yesha Y; Kolonel, Laurence N LN; Carter, Erin E; Park, Karen K; Le Marchand, Loic L; Van Den Berg, David D; Henderson, Brian E BE; Stram, Daniel O DO
Association of glucocerebrosidase mutations with dementia with lewy bodies.
Archives Of Neurology
Clark, Lorraine N LN; Kartsaklis, Lykourgos A LA; Wolf Gilbert, Rebecca R; Dorado, Beatriz B; Ross, Barbara M BM; Kisselev, Sergey S; Verbitsky, Miguel M; Mejia-Santana, Helen H; Cote, Lucien J LJ; Andrews, Howard H; Vonsattel, Jean-Paul JP; Fahn, Stanley S; Mayeux, Richard R; Honig, Lawrence S LS; Marder, Karen K
Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Portugal.
Neurobiology Of Aging
Bras, Jose J; Paisan-Ruiz, Coro C; Guerreiro, Rita R; Ribeiro, Maria Helena MH; Morgadinho, Ana A; Januario, Cristina C; Sidransky, Ellen E; Oliveira, Catarina C; Singleton, Andrew A