Publications:

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GBA1 in Parkinson's disease: variant detection and pathogenicity scoring matters.

Bmc Genomics

Gabbert, Carolin C; Schaake, Susen S; Lüth, Theresa T; Much, Christoph C; Klein, Christine C; Aasly, Jan O JO; Farrer, Matthew J MJ; Trinh, Joanne J

Publication Date: 2023-06-13

Variant appearance in text: GBA1: L483P

PubMed Link: 37312046

Variant Present in the following documents:

• Main text
• 12864_2023_9417_MOESM1_ESM.pdf
• 12864_2023_Article_9417.pdf

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Advantages of digital technology in the assessment of bone marrow involvement in Gaucher's disease.

Frontiers In Medicine

Valero-Tena, Esther E; Roca-Espiau, Mercedes M; Verdú-Díaz, Jose J; Diaz-Manera, Jordi J; Andrade-Campos, Marcio M; Giraldo, Pilar P

Publication Date: 2023

Variant appearance in text: GBA: 1448T>C

PubMed Link: 37250646

Variant Present in the following documents:

• Main text
• fmed-10-1098472.pdf

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Pediatric Gaucher Disease Presenting with Massive Splenomegaly and Hepatic Gaucheroma.

Children (Basel, Switzerland)

Bossù, Gianluca G; Pedretti, Laura L; Bertolini, Lorenzo L; Esposito, Susanna S

Publication Date: 2023-05-12

Variant appearance in text: GBA: 1448T>C

PubMed Link: 37238417

Variant Present in the following documents:

• Main text
• children-10-00869.pdf

View BVdb publication page

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The genetic spectrum of a cohort of patients clinically diagnosed as Parkinson's disease in mainland China.

Npj Parkinson'S Disease

Sun, Yi-Min YM; Zhou, Xin-Yue XY; Liang, Xiao-Niu XN; Lin, Jin-Ran JR; Xu, Yi-Dan YD; Chen, Chen C; Wei, Si-Di SD; Chen, Qi-Si QS; Liu, Feng-Tao FT; Zhao, Jue J; Tang, Yi-Lin YL; Shen, Bo B; Gan, Lin-Hua LH; Lu, Boxun B; Ding, Zheng-Tong ZT; An, Yu Y; Wu, Jian-Jun JJ; Wang, Jian J

Publication Date: 2023-05-17

Variant appearance in text: GBA: Leu483Pro

PubMed Link: 37198191

Variant Present in the following documents:

• 41531_2023_518_MOESM1_ESM.pdf

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Alpha-Synuclein mRNA Level Found Dependent on L444P Variant in Carriers and Gaucher Disease Patients on Enzyme Replacement Therapy.

Biomolecules

Dubiela, Paweł P; Szymańska-Rożek, Paulina P; Eljaszewicz, Andrzej A; Lipiński, Patryk P; Hasiński, Piotr P; Giersz, Dorota D; Walewska, Alicja A; Tynecka, Marlena M; Moniuszko, Marcin M; Tylki-Szymańska, Anna A

Publication Date: 2023-04-03

Variant appearance in text: GBA1: 1448T>C

PubMed Link: 37189391

Variant Present in the following documents:

• Main text
• biomolecules-13-00644.pdf

View BVdb publication page

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Targeting neuronal lysosomal dysfunction caused by β-glucocerebrosidase deficiency with an enzyme-based brain shuttle construct.

Nature Communications

Gehrlein, Alexandra A; Udayar, Vinod V; Anastasi, Nadia N; Morella, Martino L ML; Ruf, Iris I; Brugger, Doris D; von der Mark, Sophia S; Thoma, Ralf R; Rufer, Arne A; Heer, Dominik D; Pfahler, Nina N; Jochner, Anton A; Niewoehner, Jens J; Wolf, Luise L; Fueth, Matthias M; Ebeling, Martin M; Villaseñor, Roberto R; Zhu, Yanping Y; Deen, Matthew C MC; Shan, Xiaoyang X; Ehsaei, Zahra Z; Taylor, Verdon V; Sidransky, Ellen E; Vocadlo, David J DJ; Freskgård, Per-Ola PO; Jagasia, Ravi R

Publication Date: 2023-04-12

Variant appearance in text: GBA1: L483P

PubMed Link: 37045813

Variant Present in the following documents:

• Main text
• 41467_2023_Article_37632.pdf

View BVdb publication page

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A severe neurodegenerative disease with Lewy bodies and a mutation in the glucocerebrosidase gene.

Npj Parkinson'S Disease

Sipilä, Jussi O T JOT; Kytövuori, Laura L; Rauramaa, Tuomas T; Rauhamaa, Hugo H; Kaasinen, Valtteri V; Majamaa, Kari K

Publication Date: 2023-04-05

Variant appearance in text: GBA1: Leu483Pro

PubMed Link: 37019925

Variant Present in the following documents:

• Main text
• 41531_2023_Article_501.pdf

View BVdb publication page

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Genetics of Multiple System Atrophy and Progressive Supranuclear Palsy: A Systemized Review of the Literature.

International Journal Of Molecular Sciences

Bougea, Anastasia A

Publication Date: 2023-03-09

Variant appearance in text: GBA: L483P

PubMed Link: 36982356

Variant Present in the following documents:

• ijms-24-05281.pdf

View BVdb publication page

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Clinical and genetic analysis of Vietnamese patients diagnosed with early-onset Parkinson's disease.

Brain And Behavior

Do, Minh Duc MD; Tran, Tai Ngoc TN; Luong, An Bac AB; Le, Linh Hoang Gia LHG; Van Le, Tuan T; Le, Khuong Thai KT; Van Vo, Niem Thanh NT; Le, Thuc-Nhi Nguyen TN; Vu, Hoang Anh HA; Mai, Thao Phuong TP

Publication Date: 2023-03-06

Variant appearance in text: GBA: 1448T>C; rs421016

PubMed Link: 36879366

Variant Present in the following documents:

• Main text
• BRB3-13-e2950.pdf

View BVdb publication page

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The Frequency of Korean Patients With Parkinson's Disease Carrying GBA Mutations in a Subgroup With Age at Onset ≤ 55 Years Old.

Journal Of Movement Disorders

Hwangbo, Jin J; Lee, Myung Jun MJ; Kim, Sang Jin SJ; Lee, Jae-Hyeok JH

Publication Date: 2023-03-07

Variant appearance in text: GBA: L483P

PubMed Link: 36872856

Variant Present in the following documents:

• Main text
• jmd-22191.pdf

View BVdb publication page

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: GBA: 1448T>C; Leu483Pro

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Peripheral inflammatory immune response differs among sporadic and familial Parkinson's disease.

Npj Parkinson'S Disease

Muñoz-Delgado, Laura L; Macías-García, Daniel D; Periñán, María Teresa MT; Jesús, Silvia S; Adarmes-Gómez, Astrid D AD; Bonilla Toribio, Marta M; Buiza Rueda, Dolores D; Jiménez-Jaraba, María Del Valle MDV; Benítez Zamora, Belén B; Díaz Belloso, Rafael R; García-Díaz, Sergio S; Martín-Bórnez, Miguel M; Pineda Sánchez, Rocío R; Carrillo, Fátima F; Gómez-Garre, Pilar P; Mir, Pablo P

Publication Date: 2023-01-31

Variant appearance in text: GBA: Leu483Pro

PubMed Link: 36720879

Variant Present in the following documents:

• Main text
• 41531_2023_Article_457.pdf

View BVdb publication page

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Hematopoietic Stem Cell Transplantation is a cost-effective alternative to enzyme replacement therapy in Gaucher Disease.

Blood Cell Therapy

Aboobacker, Fouzia N FN; Kulkarni, Uday P UP; Korula, Anu A; Devasia, Anup J AJ; Selvarajan, Sushil S; Lionel, Sharon S; Sindhuvi, Eunice E; Srivastava, Alok A; George, Biju B; Abraham, Aby A

Publication Date: 2022-08-25

Variant appearance in text: GBA: 1448T>C; L483P

PubMed Link: 36712555

Variant Present in the following documents:

• 2432-7026-5-3-0069.pdf

View BVdb publication page

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Genomic complexity predicts resistance to endocrine therapy and CDK4/6 inhibition in hormone receptor-positive (HR+)/HER2-negative metastatic breast cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Davis, Andrew A AA; Luo, Jingqin J; Zheng, Tiantian T; Dai, Chao C; Dong, Xiaoxi X; Tan, Lu L; Suresh, Rama R; Ademuyiwa, Foluso O FO; Rigden, Caron C; Rearden, Timothy P TP; Clifton, Katherine K; Weilbaecher, Katherine K; Frith, Ashley A; Tandra, Pavankumar K PK; Summa, Tracy T; Haas, Brittney B; Thomas, Shana S; Hernandez-Aya, Leonel F LF; Peterson, Lindsay L LL; Wang, Xiaohong X; Luo, Shujun J SJ; Zhou, Kemin K; Du, Pan P; Jia, Shidong S; King, Bonnie L BL; Krishnamurthy, Jairam J; Ma, Cynthia X CX

Publication Date: 2023-01-24

Variant appearance in text: GBA: 1448T>C; Leu483Pro

PubMed Link: 36693175

Variant Present in the following documents:

• ccr-22-2177_supplementary_data_s1_suppds1.xlsx, sheet 3

View BVdb publication page

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Compound heterozygous p.L483P and p.S310G mutations in GBA1 cause type 1 adult Gaucher disease: A case report.

World Journal Of Clinical Cases

Wen, Xiao-Ling XL; Wang, Yao-Zi YZ; Zhang, Xia-Lin XL; Tu, Jia-Qiang JQ; Zhang, Zhi-Juan ZJ; Liu, Xia-Xia XX; Lu, Hai-Yan HY; Hao, Guo-Ping GP; Wang, Xiao-Huan XH; Yang, Lin-Hua LH; Zhang, Rui-Juan RJ

Publication Date: 2022-12-26

Variant appearance in text: GBA1: 1448T>C

PubMed Link: 36683633

Variant Present in the following documents:

• WJCC-10-13426.pdf

View BVdb publication page

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Depression and Parkinson's disease: a Chicken-Egg story.

Aims Neuroscience

Chakraborty, Ashok A; Diwan, Anil A

Publication Date: 2022

Variant appearance in text: rs421016

PubMed Link: 36660077

Variant Present in the following documents:

• Main text
• neurosci-09-04-027.pdf

View BVdb publication page

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Editorial: Genetic and molecular diversity in Parkinson's disease.

Frontiers In Aging Neuroscience

Abdul Murad, Nor Azian NA; Sulaiman, Siti Aishah SA; Ahmad-Annuar, Azlina A; Mohamed Ibrahim, Norlinah N; Mohamed, Wael W; Md Rani, Shahrul Azmin SA; Mok, Kin Ying KY

Publication Date: 2022

Variant appearance in text: GBA: L483P

PubMed Link: 36589546

Variant Present in the following documents:

• Main text
• fnagi-14-1094914.pdf

View BVdb publication page

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Genome-wide data from medieval German Jews show that the Ashkenazi founder event pre-dated the 14th century.

Cell

Waldman, Shamam S; Backenroth, Daniel D; Harney, Éadaoin É; Flohr, Stefan S; Neff, Nadia C NC; Buckley, Gina M GM; Fridman, Hila H; Akbari, Ali A; Rohland, Nadin N; Mallick, Swapan S; Olalde, Iñigo I; Cooper, Leo L; Lomes, Ariel A; Lipson, Joshua J; Cano Nistal, Jorge J; Yu, Jin J; Barzilai, Nir N; Peter, Inga I; Atzmon, Gil G; Ostrer, Harry H; Lencz, Todd T; Maruvka, Yosef E YE; Lämmerhirt, Maike M; Beider, Alexander A; Rutgers, Leonard V LV; Renson, Virginie V; Prufer, Keith M KM; Schiffels, Stephan S; Ringbauer, Harald H; Sczech, Karin K; Carmi, Shai S; Reich, David D

Publication Date: 2022-11-22

Variant appearance in text: GBA: L483P; rs421016

PubMed Link: 36455558

Variant Present in the following documents:

• NIHMS1852590-supplement-MMC2.xlsx, sheet 6

View BVdb publication page

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Targeted Screening for Gaucher Disease in High Suspicion Patients and Clinical Profile of Screen Positives in a Large Pediatric Multispecialty Hospital.

Cureus

Magar, Suvarna S; Engade, Madhuri M; Idhate, Tushar T; Khambayate, Sachin S; Nilofer, Shaikh S; Kalia, Ana A

Publication Date: 2022-10

Variant appearance in text: GBA: 1448T>C; Leu483Pro

PubMed Link: 36348851

Variant Present in the following documents:

• Main text
• cureus-0014-00000029868.pdf

View BVdb publication page

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Natural history and management of liver dysfunction in lysosomal storage disorders.

World Journal Of Hepatology

Sen Sarma, Moinak M; Tripathi, Parijat Ram PR

Publication Date: 2022-10-27

Variant appearance in text: GBA: Leu483Pro

PubMed Link: 36340750

Variant Present in the following documents:

• WJH-14-1844.pdf

View BVdb publication page

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A multicenter study of genetic testing for Parkinson's disease in the clinical setting.

Npj Parkinson'S Disease

Kovanda, Anja A; Rački, Valentino V; Bergant, Gaber G; Georgiev, Dejan D; Flisar, Dušan D; Papić, Eliša E; Brankovic, Marija M; Jankovic, Milena M; Svetel, Marina M; Teran, Nataša N; Maver, Aleš A; Kostic, Vladimir S VS; Novakovic, Ivana I; Pirtošek, Zvezdan Z; Rakuša, Martin M; Vuletić, Vladimira V; Peterlin, Borut B

Publication Date: 2022-11-04

Variant appearance in text: GBA: 1448T>C

PubMed Link: 36333361

Variant Present in the following documents:

• 41531_2022_Article_408.pdf

View BVdb publication page

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Longitudinal evaluation of olfactory function in individuals with Gaucher disease and GBA1 mutation carriers with and without Parkinson's disease.

Frontiers In Neurology

Lopez, Grisel J GJ; Lichtenberg, Jens J; Tayebi, Nahid N; Ryan, Emory E; Lecker, Abigail L AL; Sidransky, Ellen E

Publication Date: 2022

Variant appearance in text: GBA1: L483P

PubMed Link: 36330429

Variant Present in the following documents:

• Main text
• fneur-13-1039214.pdf

View BVdb publication page

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Cognitive-Driven Activities of Daily Living Impairment as a Predictor for Dementia in Parkinson Disease: A Longitudinal Cohort Study.

Neurology

Becker, Sara S; Bode, Merle M; Brockmann, Kathrin K; Gasser, Thomas T; Michaelis, Katja K; Solbrig, Susanne S; Nuerk, Hans-Christoph HC; Schulte, Claudia C; Maetzler, Walter W; Zimmermann, Milan M; Berg, Daniela D; Liepelt-Scarfone, Inga I

Publication Date: 2022-09-02

Variant appearance in text: GBA: L483P

PubMed Link: 36240089

Variant Present in the following documents:

• Main text
• WNL-2022-201122.pdf

View BVdb publication page

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The metabolic genomic atlas reveals potential drivers and clinically relevant insights into the etiology of esophageal squamous cell carcinoma.

Theranostics

Liu, Xuesong X; Hong, Ruoxi R; Du, Peina P; Yang, Di D; He, Meibo M; Wu, Qingnan Q; Li, Lin L; Wang, Yan Y; Chen, Jie J; Min, Qingjie Q; Li, Jinting J; Zhang, Weimin W; Zhan, Qimin Q

Publication Date: 2022

Variant appearance in text: GBA: 1448T>C; L483P

PubMed Link: 36168622

Variant Present in the following documents:

• thnov12p6160s2.xlsx, sheet 2

View BVdb publication page

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Screening for potential undiagnosed Gaucher disease patients: Utilisation of the Gaucher earlier diagnosis consensus point-scoring system (GED-C PSS) in conjunction with electronic health record data, tissue specimens, and small nucleotide polymorphism (SNP) genotype data available in Finnish biobanks.

Molecular Genetics And Metabolism Reports

Pehrsson, Minja M; Heikkinen, Hanna H; Wartiovaara-Kautto, Ulla U; Mäntylahti, Sampo S; Bäckström, Pia P; Lassenius, Mariann I MI; Uusi-Rauva, Kristiina K; Carpén, Olli O; Elomaa, Kaisa K

Publication Date: 2022-12

Variant appearance in text: GBA: 1448T>C; rs421016

PubMed Link: 36092251

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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αβT- and B-cell-depleted HLA-haploidentical hematopoietic stem cell transplantation in children with myelodysplastic syndromes.

Haematologica

Merli, Pietro P; Pagliara, Daria D; Mina, Tommaso T; Bertaina, Valentina V; Li Pira, Giuseppina G; Lazzaro, Stefania S; Biagini, Simone S; Galaverna, Federica F; Strocchio, Luisa L; Carta, Roberto R; Catanoso, Maria Luigia ML; Quagliarella, Francesco F; Becilli, Marco M; Boccieri, Emilia E; Del Bufalo, Francesca F; Panigari, Arianna A; Agostini, Annalisa A; Pedace, Lucia L; Pizzi, Simone S; Perotti, Cesare C; Algeri, Mattia M; Zecca, Marco M; Locatelli, Franco F

Publication Date: 2022-12-01

Variant appearance in text: GBA: 1448T>C; Leu483Pro; rs421016

PubMed Link: 36005558

Variant Present in the following documents:

• 2022_280698_MERLI_SUPPL.pdf

View BVdb publication page

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Glucocerebrosidase mutations and Parkinson disease.

Journal Of Neural Transmission (Vienna, Austria : 1996)

Vieira, Sophia R L SRL; Schapira, Anthony H V AHV

Publication Date: 2022-09

Variant appearance in text: GBA1: L483P

PubMed Link: 35932311

Variant Present in the following documents:

• Main text
• 702_2022_Article_2531.pdf

View BVdb publication page

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An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases.

Nature Communications

Owen, Mallory J MJ; Lefebvre, Sebastien S; Hansen, Christian C; Kunard, Chris M CM; Dimmock, David P DP; Smith, Laurie D LD; Scharer, Gunter G; Mardach, Rebecca R; Willis, Mary J MJ; Feigenbaum, Annette A; Niemi, Anna-Kaisa AK; Ding, Yan Y; Van Der Kraan, Luca L; Ellsworth, Katarzyna K; Guidugli, Lucia L; Lajoie, Bryan R BR; McPhail, Timothy K TK; Mehtalia, Shyamal S SS; Chau, Kevin K KK; Kwon, Yong H YH; Zhu, Zhanyang Z; Batalov, Sergey S; Chowdhury, Shimul S; Rego, Seema S; Perry, James J; Speziale, Mark M; Nespeca, Mark M; Wright, Meredith S MS; Reese, Martin G MG; De La Vega, Francisco M FM; Azure, Joe J; Frise, Erwin E; Rigby, Charlene Son CS; White, Sandy S; Hobbs, Charlotte A CA; Gilmer, Sheldon S; Knight, Gail G; Oriol, Albert A; Lenberg, Jerica J; Nahas, Shareef A SA; Perofsky, Kate K; Kim, Kyu K; Carroll, Jeanne J; Coufal, Nicole G NG; Sanford, Erica E; Wigby, Kristen K; Weir, Jacqueline J; Thomson, Vicki S VS; Fraser, Louise L; Lazare, Seka S SS; Shin, Yoon H YH; Grunenwald, Haiying H; Lee, Richard R; Jones, David D; Tran, Duke D; Gross, Andrew A; Daigle, Patrick P; Case, Anne A; Lue, Marisa M; Richardson, James A JA; Reynders, John J; Defay, Thomas T; Hall, Kevin P KP; Veeraraghavan, Narayanan N; Kingsmore, Stephen F SF

Publication Date: 2022-07-26

Variant appearance in text: GBA: 1448T>C; Leu483Pro

PubMed Link: 35882841

Variant Present in the following documents:

• 41467_2022_31446_MOESM7_ESM.xlsx, sheet 4

View BVdb publication page

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Early diagnosis of Gaucher disease in Korean patients with unexplained splenomegaly: a multicenter observational study.

Blood Research

Do, Young Rok YR; Choi, Yunsuk Y; Heo, Mi Hwa MH; Kim, Jin Seok JS; Yoon, Jae-Ho JH; Lee, Je-Hwan JH; Park, Joon Seong JS; Sohn, Sang Kyun SK; Kim, Sung Hyun SH; Lim, Sungnam S; Chung, Joo Seop JS; Jo, Deog-Yeon DY; Eom, Hyeon Seok HS; Kim, Hawk H; Jeon, So Yeon SY; Won, Jong-Ho JH; Lee, Hee Jeong HJ; Shin, Jung Won JW; Jang, Jun-Ho JH; Yoon, Sung-Soo SS

Publication Date: 2022-09-30

Variant appearance in text: GBA: 1448T>C; Leu483Pro

PubMed Link: 35880496

Variant Present in the following documents:

• Main text
• br-57-3-207.pdf

View BVdb publication page

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Comprehensive short and long read sequencing analysis for the Gaucher and Parkinson's disease-associated GBA gene.

Communications Biology

Toffoli, Marco M; Chen, Xiao X; Sedlazeck, Fritz J FJ; Lee, Chiao-Yin CY; Mullin, Stephen S; Higgins, Abigail A; Koletsi, Sofia S; Garcia-Segura, Monica Emili ME; Sammler, Esther E; Scholz, Sonja W SW; Schapira, Anthony H V AHV; Eberle, Michael A MA; Proukakis, Christos C

Publication Date: 2022-07-06

Variant appearance in text: GBA: L483P

PubMed Link: 35794204

Variant Present in the following documents:

• Main text
• 42003_2022_Article_3610.pdf

View BVdb publication page

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Hemochromatosis Mimicked Gaucher Disease: Role of Hyperferritinemia in Evaluation of a Clinical Case.

Biology

Zizzo, Carmela C; Ruggeri, Irene I; Colomba, Paolo P; Argano, Christiano C; Francofonte, Daniele D; Zora, Marcomaria M; Marsana, Emanuela Maria EM; Duro, Giovanni G; Corrao, Salvatore S

Publication Date: 2022-06-15

Variant appearance in text: GBA: L483P

PubMed Link: 35741435

Variant Present in the following documents:

• Main text
• biology-11-00914.pdf

View BVdb publication page

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Author Correction: Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis.

Nature Communications

Farshidfar, Farshad F; Rhrissorrakrai, Kahn K; Levovitz, Chaya C; Peng, Cong C; Knight, James J; Bacchiocchi, Antonella A; Su, Juan J; Yin, Mingzhu M; Sznol, Mario M; Ariyan, Stephan S; Clune, James J; Olino, Kelly K; Parida, Laxmi L; Nikolaus, Joerg J; Zhang, Meiling M; Zhao, Shuang S; Wang, Yan Y; Huang, Gang G; Wan, Miaojian M; Li, Xianan X; Cao, Jian J; Yan, Qin Q; Chen, Xiang X; Newman, Aaron M AM; Halaban, Ruth R

Publication Date: 2022-05-10

Variant appearance in text: GBA: L483P

PubMed Link: 35538087

Variant Present in the following documents:

• 41467_2022_30446_MOESM1_ESM.xlsx, sheet 2

View BVdb publication page

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An Exploratory Study Using Electronic Medical Records to Assess the Feasibility of Establishing Cohorts of Patients with Genetic Causes of Parkinson's Disease.

Journal Of Parkinson'S Disease

Lee, Susan J SJ; Shaw, Peter M PM; Thornton, Bob B; Kumar, Amit A; Eizik, Michal M; Goldstaub, Dan D; Braun, Tali T; Teper, Gally G; Pai, Jennifer K JK; Chodick, Gabriel G; Bienfait, Karina K; Levitan, Diane D; Beller, Daniella D; Chris Min, K K; Jonathan, Daniel D; Voss, Tiffini T; Fox, Caroline S CS; Aubrey Stoch, S S; Struyk, Arie F AF; Vainstein, Gabriel G

Publication Date: 2022

Variant appearance in text: rs421016

PubMed Link: 35466950

Variant Present in the following documents:

• Main text
• jpd-12-jpd212703.pdf
• jpd-12-jpd212703-s001.pdf

View BVdb publication page

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GBA Variants and Parkinson Disease: Mechanisms and Treatments.

Cells

Smith, Laura L; Schapira, Anthony H V AHV

Publication Date: 2022-04-08

Variant appearance in text: GBA: 1448T>C

PubMed Link: 35455941

Variant Present in the following documents:

• Main text
• cells-11-01261.pdf

View BVdb publication page

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