Pesquisa | BVS IEC

1.

SnapShot: Genetics of ALS and FTD.

Guerreiro, Rita; Brás, José; Hardy, John.

Cell ; 160(4): 798-798.e1, 2015 Feb 12.

Artigo em Inglês | MEDLINE | ID: mdl-25679767

2.

Microglia-synapse engulfment via PtdSer-TREM2 ameliorates neuronal hyperactivity in Alzheimer's disease models.

Rueda-Carrasco, Javier; Sokolova, Dimitra; Lee, Sang-Eun; Childs, Thomas; Jurcáková, Natália; Crowley, Gerard; De Schepper, Sebastiaan; Ge, Judy Z; Lachica, Joanne I; Toomey, Christina E; Freeman, Oliver J; Hardy, John; Barnes, Samuel J; Lashley, Tammaryn; Stevens, Beth; Chang, Sunghoe; Hong, Soyon.

EMBO J ; 42(19): e113246, 2023 Oct 04.

Artigo em Inglês | MEDLINE | ID: mdl-37575021

3.

MIR-NATs repress MAPT translation and aid proteostasis in neurodegeneration.

Simone, Roberto; Javad, Faiza; Emmett, Warren; Wilkins, Oscar G; Almeida, Filipa Lourenço; Barahona-Torres, Natalia; Zareba-Paslawska, Justyna; Ehteramyan, Mazdak; Zuccotti, Paola; Modelska, Angelika; Siva, Kavitha; Virdi, Gurvir S; Mitchell, Jamie S; Harley, Jasmine; Kay, Victoria A; Hondhamuni, Geshanthi; Trabzuni, Daniah; Ryten, Mina; Wray, Selina; Preza, Elisavet; Kia, Demis A; Pittman, Alan; Ferrari, Raffaele; Manzoni, Claudia; Lees, Andrew; Hardy, John A; Denti, Michela A; Quattrone, Alessandro; Patani, Rickie; Svenningsson, Per; Warner, Thomas T; Plagnol, Vincent; Ule, Jernej; de Silva, Rohan.

Nature ; 594(7861): 117-123, 2021 06.

Artigo em Inglês | MEDLINE | ID: mdl-34012113

4.

PINK1: From Parkinson's disease to mitophagy and back again.

O'Callaghan, Benjamin; Hardy, John; Plun-Favreau, Helene.

PLoS Biol ; 21(6): e3002196, 2023 06.

Artigo em Inglês | MEDLINE | ID: mdl-37384773

5.

eQTL Catalogue 2023: New datasets, X chromosome QTLs, and improved detection and visualisation of transcript-level QTLs.

Kerimov, Nurlan; Tambets, Ralf; Hayhurst, James D; Rahu, Ida; Kolberg, Peep; Raudvere, Uku; Kuzmin, Ivan; Chowdhary, Anshika; Vija, Andreas; Teras, Hans J; Kanai, Masahiro; Ulirsch, Jacob; Ryten, Mina; Hardy, John; Guelfi, Sebastian; Trabzuni, Daniah; Kim-Hellmuth, Sarah; Rayner, William; Finucane, Hilary; Peterson, Hedi; Mosaku, Abayomi; Parkinson, Helen; Alasoo, Kaur.

PLoS Genet ; 19(9): e1010932, 2023 Sep.

Artigo em Inglês | MEDLINE | ID: mdl-37721944

6.

SnapShot: Genetics of Parkinson's disease.

Brás, José; Guerreiro, Rita; Hardy, John.

Cell ; 160(3): 570-570.e1, 2015 Jan 29.

Artigo em Inglês | MEDLINE | ID: mdl-25635463

7.

Reelin and stk25 have opposing roles in neuronal polarization and dendritic Golgi deployment.

Matsuki, Tohru; Matthews, Russell T; Cooper, Jonathan A; van der Brug, Marcel P; Cookson, Mark R; Hardy, John A; Olson, Eric C; Howell, Brian W.

Cell ; 143(5): 826-36, 2010 Nov 24.

Artigo em Inglês | MEDLINE | ID: mdl-21111240

8.

Genome-Wide Analysis of Structural Variants in Parkinson Disease.

Billingsley, Kimberley J; Ding, Jinhui; Jerez, Pilar Alvarez; Illarionova, Anastasia; Levine, Kristin; Grenn, Francis P; Makarious, Mary B; Moore, Anni; Vitale, Daniel; Reed, Xylena; Hernandez, Dena; Torkamani, Ali; Ryten, Mina; Hardy, John; Chia, Ruth; Scholz, Sonja W; Traynor, Bryan J; Dalgard, Clifton L; Ehrlich, Debra J; Tanaka, Toshiko; Ferrucci, Luigi; Beach, Thomas G; Serrano, Geidy E; Quinn, John P; Bubb, Vivien J; Collins, Ryan L; Zhao, Xuefang; Walker, Mark; Pierce-Hoffman, Emma; Brand, Harrison; Talkowski, Michael E; Casey, Bradford; Cookson, Mark R; Markham, Androo; Nalls, Mike A; Mahmoud, Medhat; Sedlazeck, Fritz J; Blauwendraat, Cornelis; Gibbs, J Raphael; Singleton, Andrew B.

Ann Neurol ; 93(5): 1012-1022, 2023 05.

Artigo em Inglês | MEDLINE | ID: mdl-36695634

9.

Adaptive Long-Read Sequencing Reveals GGC Repeat Expansion in ZFHX3 Associated with Spinocerebellar Ataxia Type 4.

Chen, Zhongbo; Gustavsson, Emil K; Macpherson, Hannah; Anderson, Claire; Clarkson, Chris; Rocca, Clarissa; Self, Eleanor; Alvarez Jerez, Pilar; Scardamaglia, Annarita; Pellerin, David; Montgomery, Kylie; Lee, Jasmaine; Gagliardi, Delia; Luo, Huihui; Hardy, John; Polke, James; Singleton, Andrew B; Blauwendraat, Cornelis; Mathews, Katherine D; Tucci, Arianna; Fu, Ying-Hui; Houlden, Henry; Ryten, Mina; Ptácek, Louis J.

Mov Disord ; 39(3): 486-497, 2024 Mar.

Artigo em Inglês | MEDLINE | ID: mdl-38197134

10.

Plasma biomarkers and genetics in the diagnosis and prediction of Alzheimer's disease.

Stevenson-Hoare, Joshua; Heslegrave, Amanda; Leonenko, Ganna; Fathalla, Dina; Bellou, Eftychia; Luckcuck, Lauren; Marshall, Rachel; Sims, Rebecca; Morgan, Bryan Paul; Hardy, John; de Strooper, Bart; Williams, Julie; Zetterberg, Henrik; Escott-Price, Valentina.

Brain ; 146(2): 690-699, 2023 02 13.

Artigo em Inglês | MEDLINE | ID: mdl-35383826

11.

Association between the LRP1B and APOE loci and the development of Parkinson's disease dementia.

Real, Raquel; Martinez-Carrasco, Alejandro; Reynolds, Regina H; Lawton, Michael A; Tan, Manuela M X; Shoai, Maryam; Corvol, Jean-Christophe; Ryten, Mina; Bresner, Catherine; Hubbard, Leon; Brice, Alexis; Lesage, Suzanne; Faouzi, Johann; Elbaz, Alexis; Artaud, Fanny; Williams, Nigel; Hu, Michele T M; Ben-Shlomo, Yoav; Grosset, Donald G; Hardy, John; Morris, Huw R.

Brain ; 146(5): 1873-1887, 2023 05 02.

Artigo em Inglês | MEDLINE | ID: mdl-36348503

12.

Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia.

Chen, Zhongbo; Tucci, Arianna; Cipriani, Valentina; Gustavsson, Emil K; Ibañez, Kristina; Reynolds, Regina H; Zhang, David; Vestito, Letizia; García, Alejandro Cisterna; Sethi, Siddharth; Brenton, Jonathan W; García-Ruiz, Sonia; Fairbrother-Browne, Aine; Gil-Martinez, Ana-Luisa; Wood, Nick; Hardy, John A; Smedley, Damian; Houlden, Henry; Botía, Juan; Ryten, Mina.

Brain ; 146(7): 2869-2884, 2023 07 03.

Artigo em Inglês | MEDLINE | ID: mdl-36624280

13.

Large-scale rare variant burden testing in Parkinson's disease.

Makarious, Mary B; Lake, Julie; Pitz, Vanessa; Ye Fu, Allen; Guidubaldi, Joseph L; Solsberg, Caroline Warly; Bandres-Ciga, Sara; Leonard, Hampton L; Kim, Jonggeol Jeffrey; Billingsley, Kimberley J; Grenn, Francis P; Jerez, Pilar Alvarez; Alvarado, Chelsea X; Iwaki, Hirotaka; Ta, Michael; Vitale, Dan; Hernandez, Dena; Torkamani, Ali; Ryten, Mina; Hardy, John; Scholz, Sonja W; Traynor, Bryan J; Dalgard, Clifton L; Ehrlich, Debra J; Tanaka, Toshiko; Ferrucci, Luigi; Beach, Thomas G; Serrano, Geidy E; Real, Raquel; Morris, Huw R; Ding, Jinhui; Gibbs, J Raphael; Singleton, Andrew B; Nalls, Mike A; Bhangale, Tushar; Blauwendraat, Cornelis.

Brain ; 146(11): 4622-4632, 2023 11 02.

Artigo em Inglês | MEDLINE | ID: mdl-37348876

14.

Using blood transcriptome analysis for Alzheimer's disease diagnosis and patient stratification.

Zhong, Huan; Zhou, Xiaopu; Uhm, Hyebin; Jiang, Yuanbing; Cao, Han; Chen, Yu; Mak, Tiffany T W; Lo, Ronnie Ming Nok; Wong, Bonnie Wing Yan; Cheng, Elaine Yee Ling; Mok, Kin Y; Chan, Andrew Lung Tat; Kwok, Timothy C Y; Mok, Vincent C T; Ip, Fanny C F; Hardy, John; Fu, Amy K Y; Ip, Nancy Y.

Alzheimers Dement ; 20(4): 2469-2484, 2024 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-38323937

15.

A blood-based multi-pathway biomarker assay for early detection and staging of Alzheimer's disease across ethnic groups.

Jiang, Yuanbing; Uhm, Hyebin; Ip, Fanny C; Ouyang, Li; Lo, Ronnie M N; Cheng, Elaine Y L; Cao, Xiaoyun; Tan, Clara M C; Law, Brian C H; Ortiz-Romero, Paula; Puig-Pijoan, Albert; Fernández-Lebrero, Aida; Contador, José; Mok, Kin Y; Hardy, John; Kwok, Timothy C Y; Mok, Vincent C T; Suárez-Calvet, Marc; Zetterberg, Henrik; Fu, Amy K Y; Ip, Nancy Y.

Alzheimers Dement ; 20(3): 2000-2015, 2024 Mar.

Artigo em Inglês | MEDLINE | ID: mdl-38183344

16.

Human myeloid progenitor glucocorticoid receptor activation causes genomic instability, type 1 IFN- response pathway activation and senescence in differentiated microglia; an early life stress model.

Wei, Jingzhang; Arber, Charles; Wray, Selina; Hardy, John; Piers, Thomas M; Pocock, Jennifer M.

Glia ; 71(4): 1036-1056, 2023 04.

Artigo em Inglês | MEDLINE | ID: mdl-36571248

17.

The contribution of Neanderthal introgression and natural selection to neurodegenerative diseases.

Chen, Zhongbo; Reynolds, Regina H; Pardiñas, Antonio F; Gagliano Taliun, Sarah A; van Rheenen, Wouter; Lin, Kuang; Shatunov, Aleksey; Gustavsson, Emil K; Fogh, Isabella; Jones, Ashley R; Robberecht, Wim; Corcia, Philippe; Chiò, Adriano; Shaw, Pamela J; Morrison, Karen E; Veldink, Jan H; van den Berg, Leonard H; Shaw, Christopher E; Powell, John F; Silani, Vincenzo; Hardy, John A; Houlden, Henry; Owen, Michael J; Turner, Martin R; Ryten, Mina; Al-Chalabi, Ammar.

Neurobiol Dis ; 180: 106082, 2023 05.

Artigo em Inglês | MEDLINE | ID: mdl-36925053

18.

Defining the Riddle in Order to Solve It: There Is More Than One "Parkinson's Disease".

Outeiro, Tiago F; Alcalay, Roy N; Antonini, Angelo; Attems, Johannes; Bonifati, Vincenzo; Cardoso, Francisco; Chesselet, Marie-Françoise; Hardy, John; Madeo, Graziella; McKeith, Ian; Mollenhauer, Brit; Moore, Darren J; Rascol, Olivier; Schlossmacher, Michael G; Soreq, Hermona; Stefanis, Leonidas; Ferreira, Joaquim J.

Mov Disord ; 38(7): 1127-1142, 2023 07.

Artigo em Inglês | MEDLINE | ID: mdl-37156737

19.

Regulation of mitophagy by the NSL complex underlies genetic risk for Parkinson's disease at 16q11.2 and MAPT H1 loci.

Soutar, Marc P M; Melandri, Daniela; O'Callaghan, Benjamin; Annuario, Emily; Monaghan, Amy E; Welsh, Natalie J; D'Sa, Karishma; Guelfi, Sebastian; Zhang, David; Pittman, Alan; Trabzuni, Daniah; Verboven, Anouk H A; Pan, Kylie S; Kia, Demis A; Bictash, Magda; Gandhi, Sonia; Houlden, Henry; Cookson, Mark R; Kasri, Nael Nadif; Wood, Nicholas W; Singleton, Andrew B; Hardy, John; Whiting, Paul J; Blauwendraat, Cornelis; Whitworth, Alexander J; Manzoni, Claudia; Ryten, Mina; Lewis, Patrick A; Plun-Favreau, Hélène.

Brain ; 145(12): 4349-4367, 2022 12 19.

Artigo em Inglês | MEDLINE | ID: mdl-36074904

20.

SnapShot: genetics of Alzheimer's disease.