Publications:

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Deep brain stimulation in Early Onset Parkinson's disease.

Frontiers In Neurology

Krause, Patricia P; Reimer, Johanna J; Kaplan, Jonathan J; Borngräber, Friederike F; Schneider, Gerd-Helge GH; Faust, Katharina K; Kühn, Andrea A AA

Publication Date: 2022

Variant appearance in text: LRRK2: T2031S

PubMed Link: 36468049

Variant Present in the following documents:

• Main text
• fneur-13-1041449.pdf

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Precision Medicine in Parkinson's Disease: From Genetic Risk Signals to Personalized Therapy.

Brain Sciences

Straccia, Giulia G; Colucci, Fabiana F; Eleopra, Roberto R; Cilia, Roberto R

Publication Date: 2022-09-28

Variant appearance in text: LRRK2: T2031S

PubMed Link: 36291241

Variant Present in the following documents:

• Main text
• brainsci-12-01308.pdf

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Impact of 100 LRRK2 variants linked to Parkinson's disease on kinase activity and microtubule binding.

The Biochemical Journal

Kalogeropulou, Alexia F AF; Purlyte, Elena E; Tonelli, Francesca F; Lange, Sven M SM; Wightman, Melanie M; Prescott, Alan R AR; Padmanabhan, Shalini S; Sammler, Esther E; Alessi, Dario R DR

Publication Date: 2022-09-16

Variant appearance in text: LRRK2: T2031S

PubMed Link: 35950872

Variant Present in the following documents:

• Main text
• BCJ-479-1759.pdf
• BCJ-479-1759-s1.pdf

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The Role of Genetic Data in Selecting Device-Aided Therapies in Patients With Advanced Parkinson's Disease: A Mini-Review.

Frontiers In Aging Neuroscience

Chan, Germaine Hiu-Fai GH

Publication Date: 2022

Variant appearance in text: LRRK2: T2031S

PubMed Link: 35754954

Variant Present in the following documents:

• Main text
• fnagi-14-895430.pdf

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A Review on Response to Device-Aided Therapies Used in Monogenic Parkinsonism and GBA Variants Carriers: A Need for Guidelines and Comparative Studies.

Journal Of Parkinson'S Disease

Salles, Philippe A PA; Liao, James J; Shuaib, Umar U; Mata, Ignacio F IF; Fernandez, Hubert H HH

Publication Date: 2022

Variant appearance in text: LRRK2: T2031S

PubMed Link: 35662127

Variant Present in the following documents:

• Main text
• jpd-12-jpd212986.pdf

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Oxidative stress factors in Parkinson's disease.

Neural Regeneration Research

Dorszewska, Jolanta J; Kowalska, Marta M; Prendecki, Michał M; Piekut, Thomas T; Kozłowska, Joanna J; Kozubski, Wojciech W

Publication Date: 2021-07

Variant appearance in text: LRRK2: T2031S

PubMed Link: 33318422

Variant Present in the following documents:

• Main text
• NRR-16-1383.pdf

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LRRK2 Phosphorylation, More Than an Epiphenomenon.

Frontiers In Neuroscience

Marchand, Antoine A; Drouyer, Matthieu M; Sarchione, Alessia A; Chartier-Harlin, Marie-Christine MC; Taymans, Jean-Marc JM

Publication Date: 2020

Variant appearance in text: LRRK2: T2031S

PubMed Link: 32612495

Variant Present in the following documents:

• Main text
• fnins-14-00527.pdf

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Deep brain stimulation and genetic variability in Parkinson's disease: a review of the literature.

Npj Parkinson'S Disease

Ligaard, Johanne J; Sannæs, Julia J; Pihlstrøm, Lasse L

Publication Date: 2019

Variant appearance in text: LRRK2: T2031S

PubMed Link: 31508488

Variant Present in the following documents:

• Main text
• 41531_2019_Article_91.pdf

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Deep Brain Stimulation in Patients With Mutations in Parkinson's Disease-Related Genes: A Systematic Review.

Movement Disorders Clinical Practice

de Oliveira, Lais Machado LM; Barbosa, Egberto Reis ER; Aquino, Camila Catherine CC; Munhoz, Renato Puppi RP; Fasano, Alfonso A; Cury, Rubens Gisbert RG

Publication Date: 2019-06

Variant appearance in text: LRRK2: T2031S

PubMed Link: 31286005

Variant Present in the following documents:

• Main text

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Association of Subthalamic Deep Brain Stimulation With Motor, Functional, and Pharmacologic Outcomes in Patients With Monogenic Parkinson Disease: A Systematic Review and Meta-analysis.

Jama Network Open

Artusi, Carlo Alberto CA; Dwivedi, Alok K AK; Romagnolo, Alberto A; Pal, Gian G; Kauffman, Marcelo M; Mata, Ignacio I; Patel, Dhiren D; Vizcarra, Joaquin A JA; Duker, Andrew A; Marsili, Luca L; Cheeran, Binith B; Woo, Daniel D; Contarino, Maria Fiorella MF; Verhagen, Leonard L; Lopiano, Leonardo L; Espay, Alberto J AJ; Fasano, Alfonso A; Merola, Aristide A

Publication Date: 2019-02-01

Variant appearance in text: LRRK2: T2031S

PubMed Link: 30707228

Variant Present in the following documents:

• Main text

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Deep brain stimulation for monogenic Parkinson's disease: a systematic review.

Journal Of Neurology

Kuusimäki, Tomi T; Korpela, Jaana J; Pekkonen, Eero E; Martikainen, Mika H MH; Antonini, Angelo A; Kaasinen, Valtteri V

Publication Date: 2020-04

Variant appearance in text: LRRK2: 6091A>T

PubMed Link: 30659355

Variant Present in the following documents:

• Main text
• 415_2019_Article_9181.pdf

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Rab29 activation of the Parkinson's disease-associated LRRK2 kinase.

The Embo Journal

Purlyte, Elena E; Dhekne, Herschel S HS; Sarhan, Adil R AR; Gomez, Rachel R; Lis, Pawel P; Wightman, Melanie M; Martinez, Terina N TN; Tonelli, Francesca F; Pfeffer, Suzanne R SR; Alessi, Dario R DR

Publication Date: 2018-01-04

Variant appearance in text: LRRK2: T2031S

PubMed Link: 29212815

Variant Present in the following documents:

• Main text
• EMBJ-37-1.pdf

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In silico, in vitro and cellular analysis with a kinome-wide inhibitor panel correlates cellular LRRK2 dephosphorylation to inhibitor activity on LRRK2.

Frontiers In Molecular Neuroscience

Vancraenenbroeck, Renée R; De Raeymaecker, Joren J; Lobbestael, Evy E; Gao, Fangye F; De Maeyer, Marc M; Voet, Arnout A; Baekelandt, Veerle V; Taymans, Jean-Marc JM

Publication Date: 2014

Variant appearance in text: LRRK2: T2031S

PubMed Link: 24917786

Variant Present in the following documents:

• Main text

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Lack of correlation between the kinase activity of LRRK2 harboring kinase-modifying mutations and its phosphorylation at Ser910, 935, and Ser955.

Plos One

Ito, Genta G; Fujimoto, Tetta T; Kamikawaji, Shogo S; Kuwahara, Tomoki T; Iwatsubo, Takeshi T

Publication Date: 2014

Variant appearance in text: LRRK2: T2031S

PubMed Link: 24836358

Variant Present in the following documents:

• Main text
• pone.0097988.pdf

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Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics

Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z

Publication Date: 2013

Variant appearance in text: LRRK2: T2031S

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 1

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Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study.

The Lancet. Neurology

Ross, Owen A OA; Soto-Ortolaza, Alexandra I AI; Heckman, Michael G MG; Aasly, Jan O JO; Abahuni, Nadine N; Annesi, Grazia G; Bacon, Justin A JA; Bardien, Soraya S; Bozi, Maria M; Brice, Alexis A; Brighina, Laura L; Van Broeckhoven, Christine C; Carr, Jonathan J; Chartier-Harlin, Marie-Christine MC; Dardiotis, Efthimios E; Dickson, Dennis W DW; Diehl, Nancy N NN; Elbaz, Alexis A; Ferrarese, Carlo C; Ferraris, Alessandro A; Fiske, Brian B; Gibson, J Mark JM; Gibson, Rachel R; Hadjigeorgiou, Georgios M GM; Hattori, Nobutaka N; Ioannidis, John P A JP; Jasinska-Myga, Barbara B; Jeon, Beom S BS; Kim, Yun Joong YJ; Klein, Christine C; Kruger, Rejko R; Kyratzi, Elli E; Lesage, Suzanne S; Lin, Chin-Hsien CH; Lynch, Timothy T; Maraganore, Demetrius M DM; Mellick, George D GD; Mutez, Eugénie E; Nilsson, Christer C; Opala, Grzegorz G; Park, Sung Sup SS; Puschmann, Andreas A; Quattrone, Aldo A; Sharma, Manu M; Silburn, Peter A PA; Sohn, Young Ho YH; Stefanis, Leonidas L; Tadic, Vera V; Theuns, Jessie J; Tomiyama, Hiroyuki H; Uitti, Ryan J RJ; Valente, Enza Maria EM; van de Loo, Simone S; Vassilatis, Demetrios K DK; Vilariño-Güell, Carles C; White, Linda R LR; Wirdefeldt, Karin K; Wszolek, Zbigniew K ZK; Wu, Ruey-Meei RM; Farrer, Matthew J MJ; ,

Publication Date: 2011-10

Variant appearance in text: LRRK2: T2031S; rs78029637

PubMed Link: 21885347

Variant Present in the following documents:

• Main text

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Inhibition of LRRK2 kinase activity leads to dephosphorylation of Ser(910)/Ser(935), disruption of 14-3-3 binding and altered cytoplasmic localization.

The Biochemical Journal

Dzamko, Nicolas N; Deak, Maria M; Hentati, Faycal F; Reith, Alastair D AD; Prescott, Alan R AR; Alessi, Dario R DR; Nichols, R Jeremy RJ

Publication Date: 2010-09-15

Variant appearance in text: LRRK2: T2031S

PubMed Link: 20659021

Variant Present in the following documents:

• Main text
• bj4300405.pdf

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14-3-3 binding to LRRK2 is disrupted by multiple Parkinson's disease-associated mutations and regulates cytoplasmic localization.

The Biochemical Journal

Nichols, R Jeremy RJ; Dzamko, Nicolas N; Morrice, Nicholas A NA; Campbell, David G DG; Deak, Maria M; Ordureau, Alban A; Macartney, Thomas T; Tong, Youren Y; Shen, Jie J; Prescott, Alan R AR; Alessi, Dario R DR

Publication Date: 2010-09-15

Variant appearance in text: LRRK2: T2031S

PubMed Link: 20642453

Variant Present in the following documents:

• Main text

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Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update.

Human Mutation

Nuytemans, Karen K; Theuns, Jessie J; Cruts, Marc M; Van Broeckhoven, Christine C

Publication Date: 2010-07

Variant appearance in text: LRRK2: 6091A>T; T2031S

PubMed Link: 20506312

Variant Present in the following documents:

• humu0031-0763-SD1.pdf

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Zeroing in on LRRK2-linked pathogenic mechanisms in Parkinson's disease.

Biochimica Et Biophysica Acta

Biskup, Saskia S; West, Andrew B AB

Publication Date: 2009-07

Variant appearance in text: LRRK2: T2031S

PubMed Link: 18973807

Variant Present in the following documents:

• Main text

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