LRRK2 c.4322G>A ;(p.R1441H)

Variant ID: 12-40704237-G-A

NM_198578.3(LRRK2):c.4322G>A;(p.R1441H)

This variant was identified in 174 publications

View GRCh38 version.




Publications:


Overview of the Impact of Pathogenic LRRK2 Mutations in Parkinson's Disease.

Biomolecules
Ito, Genta G; Utsunomiya-Tate, Naoko N
Publication Date: 2023-05-16

Variant appearance in text: LRRK2: Arg1441His
PubMed Link: 37238714
Variant Present in the following documents:
  • Main text
  • biomolecules-13-00845.pdf
View BVdb publication page



LRRK2 Structure-Based Activation Mechanism and Pathogenesis.

Biomolecules
Zhang, Xiaojuan X; Kortholt, Arjan A
Publication Date: 2023-03-28

Variant appearance in text: LRRK2: R1441H
PubMed Link: 37189360
Variant Present in the following documents:
  • Main text
  • biomolecules-13-00612.pdf
View BVdb publication page



Analysis of rare Parkinson's disease variants in millions of people.

Research Square
Pitz, Vanessa V; Makarious, Mary M; Bandrés-Ciga, Sara S; Iwaki, Hirotaka H; Singleton, Andrew A; Nalls, Mike M; Heilbron, Karl K; Blauwendraat, Cornelis C
Publication Date: 2023-04-10

Variant appearance in text: LRRK2: R1441H; rs34995376
PubMed Link: 37090536
Variant Present in the following documents:
  • nihpp-rs2743857v1.pdf
View BVdb publication page



LRRK2 and Parkinson's disease: from genetics to targeted therapy.

Annals Of Clinical And Translational Neurology
Sosero, Yuri L YL; Gan-Or, Ziv Z
Publication Date: 2023-04-06

Variant appearance in text: LRRK2: R1441H
PubMed Link: 37021623
Variant Present in the following documents:
  • Main text
  • ACN3-10-850.pdf
View BVdb publication page



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: LRRK2: R1441H
PubMed Link: 36982356
Variant Present in the following documents:
  • Main text
  • ijms-24-05281.pdf
View BVdb publication page



Recent Advances in the Treatment of Genetic Forms of Parkinson's Disease: Hype or Hope?

Cells
Cavallieri, Francesco F; Cury, Rubens G RG; Guimarães, Thiago T; Fioravanti, Valentina V; Grisanti, Sara S; Rossi, Jessica J; Monfrini, Edoardo E; Zedde, Marialuisa M; Di Fonzo, Alessio A; Valzania, Franco F; Moro, Elena E
Publication Date: 2023-02-27

Variant appearance in text: LRRK2: R1441H
PubMed Link: 36899899
Variant Present in the following documents:
  • Main text
  • cells-12-00764.pdf
View BVdb publication page



The function of Golgi apparatus in LRRK2-associated Parkinson's disease.

Frontiers In Molecular Neuroscience
Wei, Yonghang Y; Awan, Maher Un Nisa MUN; Bai, Liping L; Bai, Jie J
Publication Date: 2023

Variant appearance in text: LRRK2: R1441H
PubMed Link: 36896008
Variant Present in the following documents:
  • Main text
  • fnmol-16-1097633.pdf
View BVdb publication page



Is Glial Dysfunction the Key Pathogenesis of LRRK2-Linked Parkinson's Disease?

Biomolecules
Iseki, Tatou T; Imai, Yuzuru Y; Hattori, Nobutaka N
Publication Date: 2023-01-15

Variant appearance in text: LRRK2: R1441H
PubMed Link: 36671564
Variant Present in the following documents:
  • Main text
  • biomolecules-13-00178.pdf
View BVdb publication page



Human Induced Pluripotent Stem Cell Phenotyping and Preclinical Modeling of Familial Parkinson's Disease.

Genes
Kim, Jeffrey J; Daadi, Etienne W EW; Oh, Thomas T; Daadi, Elyas S ES; Daadi, Marcel M MM
Publication Date: 2022-10-25

Variant appearance in text: LRRK2: R1441H
PubMed Link: 36360174
Variant Present in the following documents:
  • genes-13-01937.pdf
View BVdb publication page



Does a rare mutation in PTPRA contribute to the development of Parkinson's disease in an Australian multi-incident family?

Plos One
Hill, Melissa A MA; Bentley, Steven R SR; Walker, Tara L TL; Mellick, George D GD; Wood, Stephen A SA; Sykes, Alex M AM
Publication Date: 2022

Variant appearance in text: LRRK2: R1441H
PubMed Link: 35900966
Variant Present in the following documents:
  • Main text
  • pone.0271499.pdf
View BVdb publication page



Astrocytes in Neurodegeneration: Inspiration From Genetics.

Frontiers In Neuroscience
Huang, Jingxuan J; Li, Chunyu C; Shang, Huifang H
Publication Date: 2022

Variant appearance in text: LRRK2: R1441H
PubMed Link: 35812232
Variant Present in the following documents:
  • Main text
  • fnins-16-882316.pdf
View BVdb publication page



Genotype-Phenotype Correlation in Progressive Supranuclear Palsy Syndromes: Clinical and Radiological Similarities and Specificities.

Frontiers In Neurology
Ruiz-Barrio, Iñigo I; Horta-Barba, Andrea A; Illán-Gala, Ignacio I; Kulisevsky, Jaime J; Pagonabarraga, Javier J
Publication Date: 2022

Variant appearance in text: LRRK2: R1441H
PubMed Link: 35557621
Variant Present in the following documents:
  • fneur-13-861585.pdf
View BVdb publication page



Defects of Nutrient Signaling and Autophagy in Neurodegeneration.

Frontiers In Cell And Developmental Biology
Ondaro, Jon J; Hernandez-Eguiazu, Haizea H; Garciandia-Arcelus, Maddi M; Loera-Valencia, Raúl R; Rodriguez-Gómez, Laura L; Jiménez-Zúñiga, Andrés A; Goikolea, Julen J; Rodriguez-Rodriguez, Patricia P; Ruiz-Martinez, Javier J; Moreno, Fermín F; Lopez de Munain, Adolfo A; Holt, Ian James IJ; Gil-Bea, Francisco Javier FJ; Gereñu, Gorka G
Publication Date: 2022

Variant appearance in text: LRRK2: R1441H
PubMed Link: 35419363
Variant Present in the following documents:
  • Main text
  • fcell-10-836196.pdf
View BVdb publication page



The E3 ligase TRIM1 ubiquitinates LRRK2 and controls its localization, degradation, and toxicity.

The Journal Of Cell Biology
Stormo, Adrienne E D AED; Shavarebi, Farbod F; FitzGibbon, Molly M; Earley, Elizabeth M EM; Ahrendt, Hannah H; Lum, Lotus S LS; Verschueren, Erik E; Swaney, Danielle L DL; Skibinski, Gaia G; Ravisankar, Abinaya A; van Haren, Jeffrey J; Davis, Emily J EJ; Johnson, Jeffrey R JR; Von Dollen, John J; Balen, Carson C; Porath, Jacob J; Crosio, Claudia C; Mirescu, Christian C; Iaccarino, Ciro C; Dauer, William T WT; Nichols, R Jeremy RJ; Wittmann, Torsten T; Cox, Timothy C TC; Finkbeiner, Steve S; Krogan, Nevan J NJ; Oakes, Scott A SA; Hiniker, Annie A
Publication Date: 2022-04-04

Variant appearance in text: LRRK2: R1441H
PubMed Link: 35266954
Variant Present in the following documents:
  • JCB_202010065.pdf
View BVdb publication page



Colonic Leucine-Rich Repeat Kinase 2 Expression Is Increased and Associated With Disease Severity in Patients With Parkinson's Disease.

Frontiers In Aging Neuroscience
Liao, Peng-Hsiang PH; Chiang, Han-Lin HL; Shun, Chia-Tung CT; Hang, Jen-Fan JF; Chiu, Han-Mo HM; Wu, Ming-Shiang MS; Lin, Chin-Hsien CH
Publication Date: 2021

Variant appearance in text: LRRK2: 4322G>A; R1441H
PubMed Link: 35126095
Variant Present in the following documents:
  • Main text
  • fnagi-13-819373.pdf
View BVdb publication page



Pharmacological Modulation of Nrf2/HO-1 Signaling Pathway as a Therapeutic Target of Parkinson's Disease.

Frontiers In Pharmacology
Wang, Yumin Y; Gao, Luyan L; Chen, Jichao J; Li, Qiang Q; Huo, Liang L; Wang, Yanchao Y; Wang, Hongquan H; Du, Jichen J
Publication Date: 2021

Variant appearance in text: LRRK2: R1441H
PubMed Link: 34887759
Variant Present in the following documents:
  • Main text
  • fphar-12-757161.pdf
View BVdb publication page



Markov State Models and Molecular Dynamics Simulations Provide Understanding of the Nucleotide-Dependent Dimerization-Based Activation of LRRK2 ROC Domain.

Molecules (Basel, Switzerland)
Li, Xinyi X; Qi, Zengxin Z; Ni, Duan D; Lu, Shaoyong S; Chen, Liang L; Chen, Xiangyu X
Publication Date: 2021-09-17

Variant appearance in text: LRRK2: R1441H
PubMed Link: 34577121
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pathways to Parkinson's disease: a spotlight on 14-3-3 proteins.

Npj Parkinson'S Disease
Giusto, E E; Yacoubian, T A TA; Greggio, E E; Civiero, L L
Publication Date: 2021-09-21

Variant appearance in text: LRRK2: R1441H
PubMed Link: 34548498
Variant Present in the following documents:
  • 41531_2021_Article_230.pdf
View BVdb publication page



Molecular correlates of response to eribulin and pembrolizumab in hormone receptor-positive metastatic breast cancer.

Nature Communications
Keenan, Tanya E TE; Guerriero, Jennifer L JL; Barroso-Sousa, Romualdo R; Li, Tianyu T; O'Meara, Tess T; Giobbie-Hurder, Anita A; Tayob, Nabihah N; Hu, Jiani J; Severgnini, Mariano M; Agudo, Judith J; Vaz-Luis, Ines I; Anderson, Leilani L; Attaya, Victoria V; Park, Jihye J; Conway, Jake J; He, Meng Xiao MX; Reardon, Brendan B; Shannon, Erin E; Wulf, Gerburg G; Spring, Laura M LM; Jeselsohn, Rinath R; Krop, Ian I; Lin, Nancy U NU; Partridge, Ann A; Winer, Eric P EP; Mittendorf, Elizabeth A EA; Liu, David D; Van Allen, Eliezer M EM; Tolaney, Sara M SM
Publication Date: 2021-09-21

Variant appearance in text: LRRK2: 4322G>A
PubMed Link: 34548479
Variant Present in the following documents:
  • 41467_2021_25769_MOESM5_ESM.xlsx, sheet 7
View BVdb publication page



Deletion of lrrk2 causes early developmental abnormalities and age-dependent increase of monoamine catabolism in the zebrafish brain.

Plos Genetics
Suzzi, Stefano S; Ahrendt, Reiner R; Hans, Stefan S; Semenova, Svetlana A SA; Chekuru, Avinash A; Wirsching, Paul P; Kroehne, Volker V; Bilican, Saygın S; Sayed, Shady S; Winkler, Sylke S; Spieß, Sandra S; Machate, Anja A; Kaslin, Jan J; Panula, Pertti P; Brand, Michael M
Publication Date: 2021-09

Variant appearance in text: LRRK2: Arg1441His
PubMed Link: 34516550
Variant Present in the following documents:
  • Main text
View BVdb publication page



LIPAD (LRRK2/Luebeck International Parkinson's Disease) Study Protocol: Deep Phenotyping of an International Genetic Cohort.

Frontiers In Neurology
Usnich, Tatiana T; Vollstedt, Eva-Juliane EJ; Schell, Nathalie N; Skrahina, Volha V; Bogdanovic, Xenia X; Gaber, Hanaa H; Förster, Toni M TM; Heuer, Andreas A; Koleva-Alazeh, Natalia N; Csoti, Ilona I; Basak, Ayse Nazli AN; Ertan, Sibel S; Genc, Gencer G; Bauer, Peter P; Lohmann, Katja K; Grünewald, Anne A; Schymanski, Emma L EL; Trinh, Joanne J; Schaake, Susen S; Berg, Daniela D; Gruber, Doreen D; Isaacson, Stuart H SH; Kühn, Andrea A AA; Mollenhauer, Brit B; Pedrosa, David J DJ; Reetz, Kathrin K; Sammler, Esther M EM; Valente, Enza Maria EM; Valzania, Franco F; Volkmann, Jens J; Zittel, Simone S; Brüggemann, Norbert N; Kasten, Meike M; Rolfs, Arndt A; Klein, Christine C; ,
Publication Date: 2021

Variant appearance in text: LRRK2: 4322G>A; Arg1441His
PubMed Link: 34475849
Variant Present in the following documents:
  • Main text
View BVdb publication page



Nanomedicine for Neurodegenerative Disorders: Focus on Alzheimer's and Parkinson's Diseases.

International Journal Of Molecular Sciences
Jagaran, Keelan K; Singh, Moganavelli M
Publication Date: 2021-08-23

Variant appearance in text: LRRK2: Arg1441His
PubMed Link: 34445784
Variant Present in the following documents:
  • Main text
  • ijms-22-09082.pdf
View BVdb publication page



LRRK2 Targeting Strategies as Potential Treatment of Parkinson's Disease.

Biomolecules
Wojewska, Dominika Natalia DN; Kortholt, Arjan A
Publication Date: 2021-07-26

Variant appearance in text: LRRK2: R1441H
PubMed Link: 34439767
Variant Present in the following documents:
  • Main text
View BVdb publication page



Nivolumab in combination with cabozantinib for metastatic triple-negative breast cancer: a phase II and biomarker study.

Npj Breast Cancer
Barroso-Sousa, Romualdo R; Keenan, Tanya E TE; Li, Tianyu T; Tayob, Nabihah N; Trippa, Lorenzo L; Pastorello, Ricardo G RG; Richardson Iii, Edward T ET; Dillon, Deborah D; Amoozgar, Zohreh Z; Overmoyer, Beth B; Schnitt, Stuart J SJ; Winer, Eric P EP; Mittendorf, Elizabeth A EA; Van Allen, Eliezer E; Duda, Dan G DG; Tolaney, Sara M SM
Publication Date: 2021-08-25

Variant appearance in text: LRRK2: R1441H
PubMed Link: 34433812
Variant Present in the following documents:
  • 41523_2021_287_MOESM1_ESM.xlsx, sheet 6
View BVdb publication page



Clinical and Genetic Analysis of Costa Rican Patients With Parkinson's Disease.

Frontiers In Neurology
Torrealba-Acosta, Gabriel G; Yu, Eric E; Lobo-Prada, Tanya T; Ruíz-Martínez, Javier J; Gorostidi-Pagola, Ana A; Gan-Or, Ziv Z; Carazo-Céspedes, Kenneth K; Trempe, Jean-François JF; Mata, Ignacio F IF; Fornaguera-Trías, Jaime J
Publication Date: 2021

Variant appearance in text: LRRK2: R1441H
PubMed Link: 34421783
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Genetic Landscape of Parkinsonism-Related Dystonias and Atypical Parkinsonism-Related Syndromes.

International Journal Of Molecular Sciences
Diez-Fairen, Monica M; Alvarez Jerez, Pilar P; Berghausen, Joos J; Bandres-Ciga, Sara S
Publication Date: 2021-07-28

Variant appearance in text: LRRK2: R1441H
PubMed Link: 34360863
Variant Present in the following documents:
  • Main text
  • ijms-22-08100.pdf
View BVdb publication page



From structure to ætiology: a new window on the biology of leucine-rich repeat kinase 2 and Parkinson's disease.

The Biochemical Journal
Herbst, Susanne S; Lewis, Patrick A PA
Publication Date: 2021-07-30

Variant appearance in text: LRRK2: R1441H
PubMed Link: 34328508
Variant Present in the following documents:
  • BCJ-478-2945.pdf
View BVdb publication page



Secondary resistance to anti-EGFR therapy by transcriptional reprogramming in patient-derived colorectal cancer models.

Genome Medicine
Vangala, Deepak D; Ladigan, Swetlana S; Liffers, Sven T ST; Noseir, Soha S; Maghnouj, Abdelouahid A; Götze, Tina-Maria TM; Verdoodt, Berlinda B; Klein-Scory, Susanne S; Godfrey, Laura L; Zowada, Martina K MK; Huerta, Mario M; Edelstein, Daniel L DL; de Villarreal, Jaime Martinez JM; Marqués, Miriam M; Kumbrink, Jörg J; Jung, Andreas A; Schiergens, Tobias T; Werner, Jens J; Heinemann, Volker V; Stintzing, Sebastian S; Lindoerfer, Doris D; Mansmann, Ulrich U; Pohl, Michael M; Teschendorf, Christian C; Bernhardt, Christiane C; Wolters, Heiner H; Stern, Josef J; Usta, Selami S; Viebahn, Richard R; Admard, Jacob J; Casadei, Nicolas N; Fröhling, Stefan S; Ball, Claudia R CR; Siveke, Jens T JT; Glimm, Hanno H; Tannapfel, Andrea A; Schmiegel, Wolff W; Hahn, Stephan A SA
Publication Date: 2021-07-16

Variant appearance in text: LRRK2: 4322G>A; Arg1441His; rs34995376
PubMed Link: 34271981
Variant Present in the following documents:
  • 13073_2021_926_MOESM4_ESM.xlsx, sheet 3
View BVdb publication page



miR-335 Targets LRRK2 and Mitigates Inflammation in Parkinson's Disease.

Frontiers In Cell And Developmental Biology
Oliveira, Sara R SR; Dionísio, Pedro A PA; Gaspar, Maria M MM; Correia Guedes, Leonor L; Coelho, Miguel M; Rosa, Mário M MM; Ferreira, Joaquim J JJ; Amaral, Joana D JD; Rodrigues, Cecília M P CMP
Publication Date: 2021

Variant appearance in text: LRRK2: R1441H
PubMed Link: 34211970
Variant Present in the following documents:
  • Main text
  • fcell-09-661461.pdf
View BVdb publication page



Identification of sixteen novel candidate genes for late onset Parkinson's disease.

Molecular Neurodegeneration
Gialluisi, Alessandro A; Reccia, Mafalda Giovanna MG; Modugno, Nicola N; Nutile, Teresa T; Lombardi, Alessia A; Di Giovannantonio, Luca Giovanni LG; Pietracupa, Sara S; Ruggiero, Daniela D; Scala, Simona S; Gambardella, Stefano S; , ; Iacoviello, Licia L; Gianfrancesco, Fernando F; Acampora, Dario D; D'Esposito, Maurizio M; Simeone, Antonio A; Ciullo, Marina M; Esposito, Teresa T
Publication Date: 2021-06-21

Variant appearance in text: LRRK2: R1441H; rs34995376
PubMed Link: 34148545
Variant Present in the following documents:
  • Main text
View BVdb publication page



R1441G but not G2019S mutation enhances LRRK2 mediated Rab10 phosphorylation in human peripheral blood neutrophils.

Acta Neuropathologica
Fan, Ying Y; Nirujogi, Raja S RS; Garrido, Alicia A; Ruiz-Martínez, Javier J; Bergareche-Yarza, Alberto A; Mondragón-Rezola, Elisabet E; Vinagre-Aragón, Ana A; Croitoru, Ioana I; Gorostidi Pagola, Ana A; Paternain Markinez, Laura L; Alcalay, Roy R; Hickman, Richard A RA; Düring, Jonas J; Gomes, Sara S; Pratuseviciute, Neringa N; Padmanabhan, Shalini S; Valldeoriola, Francesc F; Pérez Sisqués, Leticia L; Malagelada, Cristina C; Ximelis, Teresa T; Molina Porcel, Laura L; Martí, Maria José MJ; Tolosa, Eduardo E; Alessi, Dario R DR; Sammler, Esther M EM
Publication Date: 2021-09

Variant appearance in text: LRRK2: 4322G>A; R1441H
PubMed Link: 34125248
Variant Present in the following documents:
  • Main text
View BVdb publication page



An attempt to dissect a peripheral marker based on cell pathology in Parkinson's disease.

Journal Of Neural Transmission (Vienna, Austria : 1996)
Biagioni, Francesca F; Ferese, Rosangela R; Giorgi, Filippo Sean FS; Modugno, Nicola N; Olivola, Enrica E; Lenzi, Paola P; Gambardella, Stefano S; Centonze, Diego D; Ruggieri, Stefano S; Fornai, Francesco F
Publication Date: 2021-10

Variant appearance in text: PARK8: Arg1441His; rs34995376
PubMed Link: 34109443
Variant Present in the following documents:
  • Main text
  • 702_2021_Article_2364.pdf
View BVdb publication page



Mind the Gap: LRRK2 Phenotypes in the Clinic vs. in Patient Cells.

Cells
Goveas, Liesel L; Mutez, Eugénie E; Chartier-Harlin, Marie-Christine MC; Taymans, Jean-Marc JM
Publication Date: 2021-04-22

Variant appearance in text: LRRK2: R1441H
PubMed Link: 33922322
Variant Present in the following documents:
  • Main text
View BVdb publication page



A Novel LRRK2 Variant p.G2294R in the WD40 Domain Identified in Familial Parkinson's Disease Affects LRRK2 Protein Levels.

International Journal Of Molecular Sciences
Ogata, Jun J; Hirao, Kentaro K; Nishioka, Kenya K; Hayashida, Arisa A; Li, Yuanzhe Y; Yoshino, Hiroyo H; Shimizu, Soichiro S; Hattori, Nobutaka N; Imai, Yuzuru Y
Publication Date: 2021-04-02

Variant appearance in text: LRRK2: R1441H
PubMed Link: 33918221
Variant Present in the following documents:
  • Main text
View BVdb publication page



A More Homogeneous Phenotype in Parkinson's Disease Related to R1441G Mutation in the LRRK2 Gene.

Frontiers In Neurology
Vinagre-Aragón, Ana A; Campo-Caballero, David D; Mondragón-Rezola, Elisabet E; Pardina-Vilella, Lara L; Hernandez Eguiazu, Haizea H; Gorostidi, Ana A; Croitoru, Ioana I; Bergareche, Alberto A; Ruiz-Martinez, Javier J
Publication Date: 2021

Variant appearance in text: LRRK2: R1441H
PubMed Link: 33763016
Variant Present in the following documents:
  • fneur-12-635396.pdf
View BVdb publication page



Genetic and Environmental Factors Influence the Pleomorphy of LRRK2 Parkinsonism.

International Journal Of Molecular Sciences
Chittoor-Vinod, Vinita G VG; Nichols, R Jeremy RJ; Schüle, Birgitt B
Publication Date: 2021-01-21

Variant appearance in text: LRRK2: 4322G>A; R1441H
PubMed Link: 33494262
Variant Present in the following documents:
  • Main text
  • ijms-22-01045.pdf
View BVdb publication page



Pathological Functions of LRRK2 in Parkinson's Disease.

Cells
Jeong, Ga Ram GR; Lee, Byoung Dae BD
Publication Date: 2020-11-30

Variant appearance in text: LRRK2: R1441H
PubMed Link: 33266247
Variant Present in the following documents:
  • cells-09-02565.pdf
View BVdb publication page



Genetics of Progressive Supranuclear Palsy: A Review.

Journal Of Parkinson'S Disease
Wen, Yafei Y; Zhou, Yafang Y; Jiao, Bin B; Shen, Lu L
Publication Date: 2021

Variant appearance in text: LRRK2: R1441H
PubMed Link: 33104043
Variant Present in the following documents:
  • Main text
  • jpd-11-jpd202302.pdf
View BVdb publication page



LRRK2 and the Endolysosomal System in Parkinson's Disease.

Journal Of Parkinson'S Disease
Erb, Madalynn L ML; Moore, Darren J DJ
Publication Date: 2020

Variant appearance in text: LRRK2: R1441H
PubMed Link: 33044192
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Current State-of-the Art of LRRK2-Based Biomarker Assay Development in Parkinson's Disease.

Frontiers In Neuroscience
Rideout, Hardy J HJ; Chartier-Harlin, Marie-Christine MC; Fell, Matthew J MJ; Hirst, Warren D WD; Huntwork-Rodriguez, Sarah S; Leyns, Cheryl E G CEG; Mabrouk, Omar S OS; Taymans, Jean-Marc JM
Publication Date: 2020

Variant appearance in text: LRRK2: Arg1441His
PubMed Link: 33013290
Variant Present in the following documents:
  • Main text
View BVdb publication page



Metabolic alterations in plasma from patients with familial and idiopathic Parkinson's disease.

Aging
Yakhine-Diop, Sokhna M S SMS; Morales-García, José A JA; Niso-Santano, Mireia M; González-Polo, Rosa A RA; Uribe-Carretero, Elisabet E; Martinez-Chacon, Guadalupe G; Durand, Sylvere S; Maiuri, Maria Chiara MC; Aiastui, Ana A; Zulaica, Miren M; Ruíz-Martínez, Javier J; López de Munain, Adolfo A; Pérez-Tur, Jordi J; Pérez-Castillo, Ana A; Kroemer, Guido G; Bravo-San Pedro, José M JM; Fuentes, José M JM
Publication Date: 2020-09-09

Variant appearance in text: LRRK2: R1441H
PubMed Link: 32903216
Variant Present in the following documents:
  • Main text
  • aging-12-103992.pdf
View BVdb publication page



Genetic and Phenotypic Basis of Autosomal Dominant Parkinson's Disease in a Large Multi-Center Cohort.

Frontiers In Neurology
Lesage, Suzanne S; Houot, Marion M; Mangone, Graziella G; Tesson, Christelle C; Bertrand, Hélène H; Forlani, Sylvie S; Anheim, Mathieu M; Brefel-Courbon, Christine C; Broussolle, Emmanuel E; Thobois, Stéphane S; Damier, Philippe P; Durif, Franck F; Roze, Emmanuel E; Tison, François F; Grabli, David D; Ory-Magne, Fabienne F; Degos, Bertrand B; Viallet, François F; Cormier-Dequaire, Florence F; Ouvrard-Hernandez, Anne-Marie AM; Vidailhet, Marie M; Lohmann, Ebba E; Singleton, Andrew A; Corvol, Jean-Christophe JC; Brice, Alexis A; ,
Publication Date: 2020

Variant appearance in text: LRRK2: Arg1441His
PubMed Link: 32849182
Variant Present in the following documents:
  • Main text
View BVdb publication page



From Synaptic Dysfunction to Neuroprotective Strategies in Genetic Parkinson's Disease: Lessons From LRRK2.

Frontiers In Cellular Neuroscience
Mancini, Andrea A; Mazzocchetti, Petra P; Sciaccaluga, Miriam M; Megaro, Alfredo A; Bellingacci, Laura L; Beccano-Kelly, Dayne A DA; Di Filippo, Massimiliano M; Tozzi, Alessandro A; Calabresi, Paolo P
Publication Date: 2020

Variant appearance in text: LRRK2: R1441H
PubMed Link: 32848606
Variant Present in the following documents:
  • Main text
View BVdb publication page



Validation of Serum Neurofilament Light Chain as a Biomarker of Parkinson's Disease Progression.

Movement Disorders : Official Journal Of The Movement Disorder Society
Mollenhauer, Brit B; Dakna, Mohammed M; Kruse, Niels N; Galasko, Douglas D; Foroud, Tatiana T; Zetterberg, Henrik H; Schade, Sebastian S; Gera, Roland G RG; Wang, Wenting W; Gao, Feng F; Frasier, Mark M; Chahine, Lana M LM; Coffey, Christopher S CS; Singleton, Andrew B AB; Simuni, Tanya T; Weintraub, Daniel D; Seibyl, John J; Toga, Arthur W AW; Tanner, Caroline M CM; Kieburtz, Karl K; Marek, Kenneth K; Siderowf, Andrew A; Cedarbaum, Jesse M JM; Hutten, Samantha J SJ; Trenkwalder, Claudia C; Graham, Danielle D
Publication Date: 2020-11

Variant appearance in text: LRRK2: R1441H; rs34995376
PubMed Link: 32798333
Variant Present in the following documents:
  • Main text
View BVdb publication page



Analysis of rare variants of autosomal-dominant genes in a Chinese population with sporadic Parkinson's disease.

Molecular Genetics & Genomic Medicine
Zheng, Ran R; Jin, Chong-Yao CY; Chen, Ying Y; Ruan, Yang Y; Gao, Ting T; Lin, Zhi-Hao ZH; Dong, Jia-Xian JX; Yan, Ya-Ping YP; Tian, Jun J; Pu, Jia-Li JL; Zhang, Bao-Rong BR
Publication Date: 2020-10

Variant appearance in text: LRRK2: R1441H; rs34995376
PubMed Link: 32794657
Variant Present in the following documents:
  • Main text
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Progress in the molecular pathogenesis and nucleic acid therapeutics for Parkinson's disease in the precision medicine era.

Medicinal Research Reviews
Li, Dunhui D; Mastaglia, Frank L FL; Fletcher, Sue S; Wilton, Steve D SD
Publication Date: 2020-11

Variant appearance in text: LRRK2: 4322G>A
PubMed Link: 32767426
Variant Present in the following documents:
  • Main text
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Role of LRRK2 variant p.Gly2019Ser in patients with Parkinsonism.

The Indian Journal Of Medical Research
Sadhukhan, Dipanwita D; Biswas, Arindam A; Bhaduri, Arunima A; Sarkar, Neelanjana N; Biswas, Atanu A; Das, Shyamal K SK; Banerjee, Tapas K TK; Ray, Kunal K; Ray, Jharna J
Publication Date: 2020-06

Variant appearance in text: LRRK2: Arg1441His
PubMed Link: 32719233
Variant Present in the following documents:
  • Main text
  • IJMR-151-592.pdf
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Long-Term Outcomes of Genetic Parkinson's Disease.

Journal Of Movement Disorders
Aasly, Jan O JO
Publication Date: 2020-05

Variant appearance in text: LRRK2: R1441H
PubMed Link: 32498494
Variant Present in the following documents:
  • jmd-19080.pdf
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