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1.

Amyotrophic lateral sclerosis: translating genetic discoveries into therapies.

Akçimen, Fulya; Lopez, Elia R; Landers, John E; Nath, Avindra; Chiò, Adriano; Chia, Ruth; Traynor, Bryan J.

Nat Rev Genet; 24(9): 642-658, 2023 09.

Artículo en Inglés | MEDLINE | ID: mdl-37024676

2.

Genetic variability in sporadic amyotrophic lateral sclerosis.

Van Daele, Sien Hilde; Moisse, Matthieu; van Vugt, Joke J F A; Zwamborn, Ramona A J; van der Spek, Rick; van Rheenen, Wouter; Van Eijk, Kristel; Kenna, Kevin; Corcia, Philippe; Vourc'h, Patrick; Couratier, Philippe; Hardiman, Orla; McLaughin, Russell; Gotkine, Marc; Drory, Vivian; Ticozzi, Nicola; Silani, Vincenzo; Ratti, Antonia; de Carvalho, Mamede; Mora Pardina, Jesús S; Povedano, Monica; Andersen, Peter M; Weber, Markus; Basak, Nazli A; Shaw, Chris; Shaw, Pamela J; Morrison, Karen E; Landers, John E; Glass, Jonathan D; van Es, Michael A; van den Berg, Leonard H; Al-Chalabi, Ammar; Veldink, Jan; Van Damme, Philip.

Brain; 146(9): 3760-3769, 2023 09 01.

Artículo en Inglés | MEDLINE | ID: mdl-37043475

3.

High Polygenic Risk Is Associated with Earlier Initiation and Escalation of Treatment in Early Primary Open-Angle Glaucoma.

Marshall, Henry N; Mullany, Sean; Han, Xikun; Qassim, Ayub; He, Weixiong; Hassall, Mark M; Schmidt, Joshua; Thomson, Daniel; Nguyen, Thi Thi; Berry, Ella C; Knight, Lachlan S W; Hollitt, Georgina L; Ridge, Bronwyn; Schulz, Angela; Mills, Richard A; Healey, Paul R; Agar, Ashish; Galanopoulos, Anna; Landers, John; Graham, Stuart L; Hewitt, Alex W; Casson, Robert J; MacGregor, Stuart; Siggs, Owen M; Craig, Jamie E.

Ophthalmology; 130(8): 830-836, 2023 08.

Artículo en Inglés | MEDLINE | ID: mdl-37044160

4.

ATXN2 intermediate expansions in amyotrophic lateral sclerosis.

Glass, Jonathan D; Dewan, Ramita; Ding, Jinhui; Gibbs, J Raphael; Dalgard, Clifton; Keagle, Pamela J; García-Redondo, Alberto; Traynor, Bryan J; Chia, Ruth; Landers, John E.

Brain; 145(8): 2671-2676, 2022 08 27.

Artículo en Inglés | MEDLINE | ID: mdl-35521889

5.

Genetic Risk Assessment of Degenerative Eye Disease (GRADE): study protocol of a prospective assessment of polygenic risk scores to predict diagnosis of glaucoma and age-related macular degeneration.

Hollitt, Georgina L; Qassim, Ayub; Thomson, Daniel; Schmidt, Joshua M; Nguyen, Thi Thi; Landers, John; MacGregor, Stuart; Siggs, Owen M; Souzeau, Emmanuelle; Craig, Jamie E.

BMC Ophthalmol; 23(1): 431, 2023 Oct 24.

Artículo en Inglés | MEDLINE | ID: mdl-37875865

6.

The Effect of SMN Gene Dosage on ALS Risk and Disease Severity.

Moisse, Matthieu; Zwamborn, Ramona A J; van Vugt, Joke; van der Spek, Rick; van Rheenen, Wouter; Kenna, Brendan; Van Eijk, Kristel; Kenna, Kevin; Corcia, Philippe; Couratier, Philippe; Vourc'h, Patrick; Hardiman, Orla; McLaughin, Russell; Gotkine, Marc; Drory, Vivian; Ticozzi, Nicola; Silani, Vincenzo; de Carvalho, Mamede; Mora Pardina, Jesús S; Povedano, Monica; Andersen, Peter M; Weber, Markus; Basak, Nazli A; Chen, Xiao; Eberle, Michael A; Al-Chalabi, Ammar; Shaw, Chris; Shaw, Pamela J; Morrison, Karen E; Landers, John E; Glass, Jonathan D; Robberecht, Wim; van Es, Michael; van den Berg, Leonard; Veldink, Jan; Van Damme, Philip.

Ann Neurol; 89(4): 686-697, 2021 04.

Artículo en Inglés | MEDLINE | ID: mdl-33389754

7.

Role of Lysosomal Gene Variants in Modulating GBA-Associated Parkinson's Disease Risk.

Straniero, Letizia; Rimoldi, Valeria; Monfrini, Edoardo; Bonvegna, Salvatore; Melistaccio, Giada; Lake, Julie; Soldà, Giulia; Aureli, Massimo; Keagle, Pamela; Foroud, Tatiana; Landers, John E; Blauwendraat, Cornelis; Zecchinelli, Anna; Cilia, Roberto; Di Fonzo, Alessio; Pezzoli, Gianni; Duga, Stefano; Asselta, Rosanna.

Mov Disord; 37(6): 1202-1210, 2022 06.

Artículo en Inglés | MEDLINE | ID: mdl-35262230

8.

Quantitative proteomics identifies proteins that resist translational repression and become dysregulated in ALS-FUS.

Baron, Desiree M; Matheny, Tyler; Lin, Yen-Chen; Leszyk, John D; Kenna, Kevin; Gall, Katherine V; Santos, David P; Tischbein, Maeve; Funes, Salome; Hayward, Lawrence J; Kiskinis, Evangelos; Landers, John E; Parker, Roy; Shaffer, Scott A; Bosco, Daryl A.

Hum Mol Genet; 28(13): 2143-2160, 2019 07 01.

Artículo en Inglés | MEDLINE | ID: mdl-30806671

9.

Rare variants in MYH15 modify amyotrophic lateral sclerosis risk.

Kim, Hyerim; Lim, Junghwa; Bao, Han; Jiao, Bin; Canon, Se Min; Epstein, Michael P; Xu, Keqin; Jiang, Jie; Parameswaran, Janani; Li, Yingjie; Moberg, Kenneth H; Landers, John E; Fournier, Christina; Allen, Emily G; Glass, Jonathan D; Wingo, Thomas S; Jin, Peng.

Hum Mol Genet; 28(14): 2309-2318, 2019 07 15.

Artículo en Inglés | MEDLINE | ID: mdl-30985904

10.

Corneal Stiffness Parameters Are Predictive of Structural and Functional Progression in Glaucoma Suspect Eyes.

Qassim, Ayub; Mullany, Sean; Abedi, Farshad; Marshall, Henry; Hassall, Mark M; Kolovos, Antonia; Knight, Lachlan S W; Nguyen, Thi; Awadalla, Mona S; Chappell, Angela; Schulz, Angela M; Galanopoulos, Anna; Agar, Ashish; Healey, Paul R; Hewitt, Alex W; Graham, Stuart L; Landers, John; Casson, Robert J; Siggs, Owen M; Craig, Jamie E.

Ophthalmology; 128(7): 993-1004, 2021 07.

Artículo en Inglés | MEDLINE | ID: mdl-33245936

11.

Cardiovascular Disease Predicts Structural and Functional Progression in Early Glaucoma.

Marshall, Henry; Mullany, Sean; Qassim, Ayub; Siggs, Owen; Hassall, Mark; Ridge, Bronwyn; Nguyen, Thi; Awadalla, Mona; Andrew, Nicholas H; Healey, Paul R; Agar, Ashish; Galanopoulos, Anna; Hewitt, Alex W; MacGregor, Stuart; Graham, Stuart L; Mills, Richard; Shulz, Angela; Landers, John; Casson, Robert J; Craig, Jamie E.

Ophthalmology; 128(1): 58-69, 2021 01.

Artículo en Inglés | MEDLINE | ID: mdl-32730956

12.

CYLD is a causative gene for frontotemporal dementia - amyotrophic lateral sclerosis.

Dobson-Stone, Carol; Hallupp, Marianne; Shahheydari, Hamideh; Ragagnin, Audrey M G; Chatterton, Zac; Carew-Jones, Francine; Shepherd, Claire E; Stefen, Holly; Paric, Esmeralda; Fath, Thomas; Thompson, Elizabeth M; Blumbergs, Peter; Short, Cathy L; Field, Colin D; Panegyres, Peter K; Hecker, Jane; Nicholson, Garth; Shaw, Alex D; Fullerton, Janice M; Luty, Agnes A; Schofield, Peter R; Brooks, William S; Rajan, Neil; Bennett, Mark F; Bahlo, Melanie; Landers, John E; Piguet, Olivier; Hodges, John R; Halliday, Glenda M; Topp, Simon D; Smith, Bradley N; Shaw, Christopher E; McCann, Emily; Fifita, Jennifer A; Williams, Kelly L; Atkin, Julie D; Blair, Ian P; Kwok, John B.

Brain; 143(3): 783-799, 2020 03 01.

Artículo en Inglés | MEDLINE | ID: mdl-32185393

13.

Transcription factor Pebbled/RREB1 regulates injury-induced axon degeneration.

Farley, Jonathan E; Burdett, Thomas C; Barria, Romina; Neukomm, Lukas J; Kenna, Kevin P; Landers, John E; Freeman, Marc R.

Proc Natl Acad Sci U S A; 115(6): 1358-1363, 2018 02 06.

Artículo en Inglés | MEDLINE | ID: mdl-29295933

14.

Selective laser trabeculoplasty: A review.

Landers, John.

Clin Exp Ophthalmol; 49(9): 1102-1110, 2021 12.

Artículo en Inglés | MEDLINE | ID: mdl-34331388

15.

Telemedicine Proof of Concept and Cost Savings During Underway Naval Operations.

Rozycki, Stefan W; Marvin, Kastley M; Landers, John T; Davis, Konrad L; Ambrosio, Art A.

Telemed J E Health; 27(5): 503-507, 2021 05.

Artículo en Inglés | MEDLINE | ID: mdl-32735483

16.

The RNA-binding protein FUS/TLS undergoes calcium-mediated nuclear egress during excitotoxic stress and is required for GRIA2 mRNA processing.

Tischbein, Maeve; Baron, Desiree M; Lin, Yen-Chen; Gall, Katherine V; Landers, John E; Fallini, Claudia; Bosco, Daryl A.

J Biol Chem; 294(26): 10194-10210, 2019 06 28.

Artículo en Inglés | MEDLINE | ID: mdl-31092554

17.

An Intraocular Pressure Polygenic Risk Score Stratifies Multiple Primary Open-Angle Glaucoma Parameters Including Treatment Intensity.

Qassim, Ayub; Souzeau, Emmanuelle; Siggs, Owen M; Hassall, Mark M; Han, Xikun; Griffiths, Helen L; Frost, N Andrew; Vallabh, Neeru A; Kirwan, James F; Menon, Geeta; Cree, Angela J; Galanopoulos, Anna; Agar, Ashish; Healey, Paul R; Graham, Stuart L; Landers, John; Casson, Robert J; Gharahkhani, Puya; Willoughby, Colin E; Hewitt, Alex W; Lotery, Andrew J; MacGregor, Stuart; Craig, Jamie E.

Ophthalmology; 127(7): 901-907, 2020 07.

Artículo en Inglés | MEDLINE | ID: mdl-32081492

18.

Using Icare HOME tonometry for follow-up of patients with open-angle glaucoma before and after selective laser trabeculoplasty.

Awadalla, Mona S; Qassim, Ayub; Hassall, Mark; Nguyen, Thi T; Landers, John; Craig, Jamie E.

Clin Exp Ophthalmol; 48(3): 328-333, 2020 04.

Artículo en Inglés | MEDLINE | ID: mdl-31747104

19.

Effect of phacoemulsification cataract surgery on intraocular pressure in early glaucoma: A prospective multi-site study.

Qassim, Ayub; Walland, Mark J; Landers, John; Awadalla, Mona; Nguyen, Thi; Loh, Jason; Schulz, Angela M; Ridge, Bronwyn; Galanopoulos, Anna; Agar, Ashish; Hewitt, Alex W; Graham, Stuart L; Healey, Paul R; Casson, Robert J; Craig, Jamie E.

Clin Exp Ophthalmol; 48(4): 442-449, 2020 05.

Artículo en Inglés | MEDLINE | ID: mdl-32031310

20.

A Drosophila model of ALS reveals a partial loss of function of causative human PFN1 mutants.

Wu, Chi-Hong; Giampetruzzi, Anthony; Tran, Helene; Fallini, Claudia; Gao, Fen-Biao; Landers, John E.

Hum Mol Genet; 26(11): 2146-2155, 2017 06 01.

Artículo en Inglés | MEDLINE | ID: mdl-28379367

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