MJFF Publications

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Clinical and functional evidence for the pathogenicity of the LRRK2 p.Arg1067Gln variant
2025

OPEN

Title: Clinical and functional evidence for the pathogenicity of the LRRK2 p.Arg1067Gln variant

Author(s): Shen‐Yang Lim, Tzi Shin Toh, Jia Wei Hor, Jia Lun Lim, Lei Cheng Lit, Azlina Ahmad, Yi Wen Tay, Jia Nee Foo, Ebonne Yulin Ng, Kalai Arasu Muthusamy, Norlinah Mohamed Ibrahim, Khairul Azmi Ibrahim, Louis C.S. Tan, Jannah Zulkefli, Anis Nadhirah Khairul Anuar, Kirsten Black, Paweł Lis, Fei Xie, Zhidong Cen, Kai Shi Lim, Katja Lohmann, Shalini Padmanabhan, Dario R. Alessi, Wei Luo, Eng‐King Tan, Esther Sammler, Ai Huey Tan

Journal Name: npj Parkinson's Disease

Publisher: Springer Science and Business Media LLC

Vol: 11

Issue #: 1

Start Page:

End Page:

Publication Date: 2025-02-23

Open Access(OA) Status: OPEN

License: cc-by

DOI - Digital Object Identifier: 10.1038/s41531-025-00884-6

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Citation Count: 1
AskBeacon—Performing genomic data exchange and analytics with natural language
2025

OPEN

Title: AskBeacon—Performing genomic data exchange and analytics with natural language

Author(s): Anuradha Wickramarachchi, Shakila Tonni, S. Majumdar, Sarvnaz Karimi, Sulev Kõks, Brendan Hosking, Jordi Rambla, Natalie A. Twine, Yatish Jain, Denis C. Bauer

Journal Name: Bioinformatics

Publisher: Oxford University Press (OUP)

Vol: 41

Issue #: 3

Start Page:

End Page:

Publication Date: 2025-02-22

Open Access(OA) Status: OPEN

License: cc-by

DOI - Digital Object Identifier: 10.1093/bioinformatics/btaf079

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Citation Count: 0
Predicting Parkinson’s disease trajectory using clinical and functional MRI features: A reproduction and replication study
2025

OPEN

Title: Predicting Parkinson’s disease trajectory using clinical and functional MRI features: A reproduction and replication study

Author(s): Élodie Germani, Nikhil Bhagwat, Mathieu Dugré, Rémi Gau, Albert Montillo, Kevin P. Nguyen, Andrzej Sokołowski, Madeleine Sharp, Jean‐Baptiste Poline, Tristan Glatard

Journal Name: PLOS ONE

Publisher: Public Library of Science (PLoS)

Vol: 20

Issue #: 2

Start Page: e0317566

End Page: e0317566

Publication Date: 2025-02-21

Open Access(OA) Status: OPEN

License: cc-by

DOI - Digital Object Identifier: 10.1371/journal.pone.0317566

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Citation Count: 0
Exploring the early drivers of pain in Parkinson’s disease
2025

OPEN

Title: Exploring the early drivers of pain in Parkinson’s disease

Author(s): Shiying Liu, Douglas D. Gunzler, Steven A. Gunzler, Dana C. Crawford, Farren Briggs

Journal Name: Scientific Reports

Publisher: Springer Science and Business Media LLC

Vol: 15

Issue #: 1

Start Page:

End Page:

Publication Date: 2025-02-20

Open Access(OA) Status: OPEN

License: cc-by-nc-nd

DOI - Digital Object Identifier: 10.1038/s41598-025-90678-w

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Citation Count: 0
Bradykinesia and postural instability in a model of prodromal synucleinopathy with α-synuclein aggregation initiated in the gigantocellular nuclei
2025

OPEN

Title: Bradykinesia and postural instability in a model of prodromal synucleinopathy with α-synuclein aggregation initiated in the gigantocellular nuclei

Author(s): Vasileios Theologidis, Sara A. Ferreira, Nanna Møller Jensen, Diana Gomes Moreira, Ole A. Ahlgreen, Mads W. Hansen, Emilie D. Rosenberg, Mette Richner, Islam Faress, Hjalte Gram, Poul Henning Jensen, Per Borghammer, Jens R. Nyengaard, Marina Romero‐Ramos, Christian B. Vægter, Wilma D.J. van de Berg, Nathalie Van Den Berge, Asad Jan

Journal Name: Acta Neuropathologica Communications

Publisher: Springer Science and Business Media LLC

Vol: 13

Issue #: 1

Start Page:

End Page:

Publication Date: 2025-02-17

Open Access(OA) Status: OPEN

License: cc-by-nc-nd

DOI - Digital Object Identifier: 10.1186/s40478-025-01948-7

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Citation Count: 0
Updated MDSGene review on the clinical and genetic spectrum of LRRK2 variants in Parkinson´s disease
2025

OPEN

Title: Updated MDSGene review on the clinical and genetic spectrum of LRRK2 variants in Parkinson´s disease

Author(s): Cleusa Adriane Menegassi Bianchi Krüger, Shen‐Yang Lim, Alissa Buhrmann, Fenja L. Fahrig, Carolin Gabbert, Natascha Bahr, Harutyun Madoev, Connie Marras, Christine Klein, Katja Lohmann

Journal Name: npj Parkinson's Disease

Publisher: Springer Science and Business Media LLC

Vol: 11

Issue #: 1

Start Page:

End Page:

Publication Date: 2025-02-17

Open Access(OA) Status: OPEN

License: cc-by

DOI - Digital Object Identifier: 10.1038/s41531-025-00881-9

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Citation Count: 0
Cultural variation in trust and acceptability of artificial intelligence diagnostics for dementia
2025

OPEN

Title: Cultural variation in trust and acceptability of artificial intelligence diagnostics for dementia

Author(s): Avinash Chandra, Kaviya Senthilvel, Rifah Anjum, Ijeoma Uchegbu, Laura J. Smith, Helen Beaumont, Reshma Punjabi, S. Hussna Begum, Charles R. Marshall

Journal Name: Journal of Alzheimer’s Disease

Publisher: SAGE Publications

Vol:

Issue #:

Start Page:

End Page:

Publication Date: 2025-02-16

Open Access(OA) Status: OPEN

License: cc-by

DOI - Digital Object Identifier: 10.1177/13872877251319353

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Citation Count: 0
Patient-centered brain transcriptomic and multimodal imaging determinants of clinical progression, physical activity, and treatment needs in Parkinson’s disease
2025

OPEN

Title: Patient-centered brain transcriptomic and multimodal imaging determinants of clinical progression, physical activity, and treatment needs in Parkinson’s disease

Author(s): Quadri Adewale, Ahmed Faraz Khan, Sue‐Jin Lin, Tobias R. Baumeister, Yashar Zeighami, Félix Carbonell, Daniel Ferreira, Yasser Iturria‐Medina

Journal Name: npj Parkinson's Disease

Publisher: Springer Science and Business Media LLC

Vol: 11

Issue #: 1

Start Page:

End Page:

Publication Date: 2025-02-15

Open Access(OA) Status: OPEN

License: cc-by-nc-nd

DOI - Digital Object Identifier: 10.1038/s41531-025-00878-4

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Citation Count: 0
Self-supervised identification and elimination of harmful datasets in distributed machine learning for medical image analysis
2025

OPEN

Title: Self-supervised identification and elimination of harmful datasets in distributed machine learning for medical image analysis

Author(s): Raissa Souza, Emma A. M. Stanley, Anthony Winder, Chris Kang, Kimberly Amador, Erik Y. Ohara, Gabrielle Dagasso, Richard Camicioli, Oury Monchi, Zahinoor Ismail, Matthias Wilms, Nils D. Forkert

Journal Name: npj Digital Medicine

Publisher: Springer Science and Business Media LLC

Vol: 8

Issue #: 1

Start Page:

End Page:

Publication Date: 2025-02-15

Open Access(OA) Status: OPEN

License: cc-by-nc-nd

DOI - Digital Object Identifier: 10.1038/s41746-025-01499-0

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Citation Count: 0
BRF110, an Orally Active Nurr1-RXRα-Selective Rexinoid, Enhances BDNF Expression without Elevating Triglycerides
2025

OPEN

Title: BRF110, an Orally Active Nurr1-RXRα-Selective Rexinoid, Enhances BDNF Expression without Elevating Triglycerides

Author(s): Xenophon Asvos, Mohamed A. El Mubarak, Theodoros Karampelas, Θεόδωρος Ράμπιας, Constantin Tamvakopoulos, Gregory Sivolapenko, Athanasios Papakyriakou, Stavros Topouzis, Demetrios K. Vassilatis, Demosthenes Fokas

Journal Name: Journal of Medicinal Chemistry

Publisher: American Chemical Society (ACS)

Vol: 68

Issue #: 4

Start Page:

End Page:

Publication Date: 2025-02-13

Open Access(OA) Status: OPEN

License: cc-by

DOI - Digital Object Identifier: 10.1021/acs.jmedchem.4c03046

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Citation Count: 0
Comparative analysis of AAV serotypes for transduction of olfactory sensory neurons
2025

OPEN

Title: Comparative analysis of AAV serotypes for transduction of olfactory sensory neurons

Author(s): Benjamin D. W. Belfort, Johnathan Jia, Alexandra R Garza, Anthony M. Insalaco, John P. McGinnis, Brandon Pekarek, Joshua Ortiz‐Guzman, Burak Tepe, Hu Chen, Zhandong Liu, Benjamin R. Arenkiel

Journal Name: Frontiers in Neuroscience

Publisher: Frontiers Media SA

Vol: 19

Issue #:

Start Page:

End Page:

Publication Date: 2025-02-13

Open Access(OA) Status: OPEN

License: cc-by

DOI - Digital Object Identifier: 10.3389/fnins.2025.1531122

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Citation Count: 0
Oligogenic structure of amyotrophic lateral sclerosis has genetic testing, counselling and therapeutic implications
2025

OPEN

Title: Oligogenic structure of amyotrophic lateral sclerosis has genetic testing, counselling and therapeutic implications

Author(s): Alfredo Iacoangeli, Allison A. Dilliott, Ahmad Al Khleifat, Peter M. Andersen, A. Nazlı Başak, Johnathan Cooper‐Knock, Philippe Corcia, Philippe Couratier, Mamede de Carvalho, Vivian E. Drory, Jonathan D. Glass, Marc Gotkine, Yosef M Lerner, Orla Hardiman, John E. Landers, Russell L. McLaughlin, Jesús S. Mora Pardina, Karen Morrison, Susana Pinto, Mònica Povedano, Christopher E. Shaw, Pamela J. Shaw, Vincenzo Silani, Nicola Ticozzi, Philip Van Damme, Leonard H. van den Berg, Patrick Vourc’h, Markus Weber, Jan H. Veldink, Richard Dobson, Guy A. Rouleau, Ammar Al‐Chalabi, Sali M. K. Farhan

Journal Name: Journal of Neurology, Neurosurgery & Psychiatry

Publisher: BMJ

Vol:

Issue #:

Start Page: jnnp

End Page: 335364

Publication Date: 2025-02-13

Open Access(OA) Status: OPEN

License: cc-by

DOI - Digital Object Identifier: 10.1136/jnnp-2024-335364

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Citation Count: 0
Bidirectional relationship between depression and activities of daily living and longitudinal mediation of cognitive function in patients with Parkinson’s disease
2025

OPEN

Title: Bidirectional relationship between depression and activities of daily living and longitudinal mediation of cognitive function in patients with Parkinson’s disease

Author(s): Yue Xu, Durong Chen, Meiqi Dong, Yun Zhang, Hongmei Yu, Yanqing Han

Journal Name: Frontiers in Aging Neuroscience

Publisher: Frontiers Media SA

Vol: 17

Issue #:

Start Page:

End Page:

Publication Date: 2025-02-12

Open Access(OA) Status: OPEN

License: cc-by

DOI - Digital Object Identifier: 10.3389/fnagi.2025.1513373

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Citation Count: 0
Motor and nonmotor features of p.A53T alpha-synuclein PD vs idiopathic PD: longitudinal data from the PPMI study
2025

OPEN

Title: Motor and nonmotor features of p.A53T alpha-synuclein PD vs idiopathic PD: longitudinal data from the PPMI study

Author(s): Athina‐Maria Simitsi, Evangelos Sfikas, Christos Koros, Nikolaos Papagiannakis, Ion Beratis, Dimitra Papadimitriou, Roubina Antonellou, Styliani Fragiadaki, Dionysia Kontaxopoulou, Marina Picillo, Ioanna Pachi, Ioanna Alefanti, María Stamelou, Paolo Barone, Leonidas Stefanis

Journal Name: Journal of Neurology

Publisher: Springer Science and Business Media LLC

Vol: 272

Issue #: 3

Start Page:

End Page:

Publication Date: 2025-02-12

Open Access(OA) Status: OPEN

License: cc-by

DOI - Digital Object Identifier: 10.1007/s00415-024-12836-w

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Citation Count: 0
Mitofusin 2 displays fusion-independent roles in proteostasis surveillance
2025

OPEN

Title: Mitofusin 2 displays fusion-independent roles in proteostasis surveillance

Author(s): Mariana Joaquim, Selver Altin, Maria-Bianca Bulimaga, Tânia Simões, Hendrik Nolte, Verian Bader, Camilla Aurora Franchino, Solenn Plouzennec, Karolina Szczepanowska, Elena Marchesan, Kay Hofmann, Marcus Krüger, Elena Ziviani, Aleksandra Trifunović, Arnaud Chevrollier, Konstanze F. Winklhofer, Elisa Motori, Margarete Odenthal, Mafalda Escobar‐Henriques

Journal Name: Nature Communications

Publisher: Springer Science and Business Media LLC

Vol: 16

Issue #: 1

Start Page:

End Page:

Publication Date: 2025-02-10

Open Access(OA) Status: OPEN

License: cc-by

DOI - Digital Object Identifier: 10.1038/s41467-025-56673-5

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Citation Count: 0
α-Synuclein Seed Amplification Assay Amplification Parameters and the Risk of Progression in Prodromal Parkinson Disease
2025

RESTRICTED

Title: α-Synuclein Seed Amplification Assay Amplification Parameters and the Risk of Progression in Prodromal Parkinson Disease

Author(s): David G. Coughlin, Ben Shifflett, Carly M. Farris, Yihua Ma, Douglas Galasko, Steven D. Edland, Brit Mollenhauer, Michael C. Brumm, Kathleen L. Poston, Kenneth Marek, Andrew Siderowf, Claudio Soto, Luis Concha‐Marambio

Journal Name: Neurology

Publisher: Ovid Technologies (Wolters Kluwer Health)

Vol: 104

Issue #: 5

Start Page:

End Page:

Publication Date: 2025-02-06

Open Access(OA) Status: RESTRICTED

License:

DOI - Digital Object Identifier: 10.1212/wnl.0000000000210279

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Citation Count: 1
Identification of Parkinson’s disease using MRI and genetic data from the PPMI cohort: an improved machine learning fusion approach
2025

OPEN

Title: Identification of Parkinson’s disease using MRI and genetic data from the PPMI cohort: an improved machine learning fusion approach

Author(s): Yifeng Yang, Liangyun Hu, Yang Chen, Weidong Gu, Guangwu Lin, Y Xie, Shengdong Nie

Journal Name: Frontiers in Aging Neuroscience

Publisher: Frontiers Media SA

Vol: 17

Issue #:

Start Page:

End Page:

Publication Date: 2025-02-04

Open Access(OA) Status: OPEN

License: cc-by

DOI - Digital Object Identifier: 10.3389/fnagi.2025.1510192

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Citation Count: 0
Validation of a data-driven motion-compensated PET brain image reconstruction algorithm in clinical patients using four radiotracers
2025

OPEN

Title: Validation of a data-driven motion-compensated PET brain image reconstruction algorithm in clinical patients using four radiotracers

Author(s): Ole Lajord Munk, Anders Rodell, Patricia B. Danielsen, J. Madsen, Mie T. Sørensen, Niels Okkels, Jacob Horsager, Katrine B. Andersen, Per Borghammer, Joel Aanerud, J.P. Jones, Inki Hong, Sven Zuehlsdorff

Journal Name: EJNMMI Physics

Publisher: Springer Science and Business Media LLC

Vol: 12

Issue #: 1

Start Page:

End Page:

Publication Date: 2025-02-03

Open Access(OA) Status: OPEN

License: cc-by-nc-nd

DOI - Digital Object Identifier: 10.1186/s40658-025-00723-w

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Citation Count: 0
Advice for translational neuroscience: move deliberately and build things
2025

OPEN

Title: Advice for translational neuroscience: move deliberately and build things

Author(s): Seth A. Hays, Robert L. Rennaker, Michael P. Kilgard

Journal Name: Bioelectronic Medicine

Publisher: Springer Science and Business Media LLC

Vol: 11

Issue #: 1

Start Page:

End Page:

Publication Date: 2025-02-02

Open Access(OA) Status: OPEN

License: cc-by

DOI - Digital Object Identifier: 10.1186/s42234-025-00165-w

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Citation Count: 0
Alpha synuclein overexpression can drive microbiome dysbiosis in mice
2025

OPEN

Title: Alpha synuclein overexpression can drive microbiome dysbiosis in mice

Author(s): Timothy R. Sampson, Zachary D. Wallen, Woong-Jai Won, David G. Standaert, Haydeh Payami, Ashley S. Harms

Journal Name: Scientific Reports

Publisher: Springer Science and Business Media LLC

Vol: 15

Issue #: 1

Start Page:

End Page:

Publication Date: 2025-02-01

Open Access(OA) Status: OPEN

License: cc-by

DOI - Digital Object Identifier: 10.1038/s41598-024-82139-7

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Citation Count: 0
Evidence for alpha-synuclein aggregation in older individuals with hyposmia: a cross-sectional study
2025

OPEN

Title: Evidence for alpha-synuclein aggregation in older individuals with hyposmia: a cross-sectional study

Author(s): Kenneth Marek, David Russell, Luis Concha‐Marambio, Seung Ho Choi, Danna Jennings, Michael C. Brumm, Christopher S. Coffey, Ethan G. Brown, John Seibyl, Matthew Stern, Claudio Soto, Andrew Siderowf

Journal Name: eBioMedicine

Publisher: Elsevier BV

Vol: 112

Issue #:

Start Page: 105567

End Page: 105567

Publication Date: 2025-02-01

Open Access(OA) Status: OPEN

License: cc-by-nc-nd

DOI - Digital Object Identifier: 10.1016/j.ebiom.2025.105567

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Citation Count: 1
Lewy body diseases and the gut
2025

OPEN

Title: Lewy body diseases and the gut

Author(s): Timothy R. Sampson, Malú G. Tansey, Andrew B. West, Rodger A. Liddle

Journal Name: Molecular Neurodegeneration

Publisher: Springer Science and Business Media LLC

Vol: 20

Issue #: 1

Start Page:

End Page:

Publication Date: 2025-01-30

Open Access(OA) Status: OPEN

License: cc-by

DOI - Digital Object Identifier: 10.1186/s13024-025-00804-5

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Citation Count: 0
Increased plasma DOPA decarboxylase levels in Lewy body disorders are driven by dopaminergic treatment
2025

OPEN

Title: Increased plasma DOPA decarboxylase levels in Lewy body disorders are driven by dopaminergic treatment

Author(s): Katharina Bolsewig, Eline A.J. Willemse, Pascual Sánchez‐Juan, Alberto Rábano, Minerva Martínez, James D. Doecke, G. Bellomo, Lisa Vermunt, Daniel Alcolea, Steffen Halbgebauer, Sjors in ‘t Veld, Niklas Mattsson, Kateřina Veverová, Christopher J. Fowler, Lynn Boonkamp, Marleen J.A. Koel‐Simmelink, Zulaiga Hussainali, Daimy N. Ruiters, Lorenzo Gaetani, Andrea Toja, Juan Fortea, Yolande A.L. Pijnenburg, Afina W. Lemstra, Wiesje M. van der Flier, Jakub Hort, Markus Otto, Oskar Hansson, Lucilla Parnetti, Colin L. Masters, Alberto Lleó, Charlotte E. Teunissen, Marta del Campo

Journal Name: Nature Communications

Publisher: Springer Science and Business Media LLC

Vol: 16

Issue #: 1

Start Page:

End Page:

Publication Date: 2025-01-29

Open Access(OA) Status: OPEN

License: cc-by-nc-nd

DOI - Digital Object Identifier: 10.1038/s41467-025-56293-z

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Citation Count: 0
Endogenous LRRK2 and PINK1 function in a convergent neuroprotective ciliogenesis pathway in the brain
2025

OPEN

Title: Endogenous LRRK2 and PINK1 function in a convergent neuroprotective ciliogenesis pathway in the brain

Author(s): Enrico Bagnoli, Yu‐En Lin, Sophie Burel, Ebsy Jaimon, Odetta Antico, Christos Themistokleous, Jonas Nikoloff, Sabrina Squires, Ilaria Morella, Jens O. Watzlawik, Fabienne C. Fiesel, Wolfdieter Springer, Francesca Tonelli, Paweł Lis, Simon P. Brooks, Stephen B. Dunnett, Riccardo Brambilla, Dario R. Alessi, Suzanne R. Pfeffer, Miratul M. K. Muqit

Journal Name: Proceedings of the National Academy of Sciences

Publisher: Proceedings of the National Academy of Sciences

Vol: 122

Issue #: 5

Start Page:

End Page:

Publication Date: 2025-01-28

Open Access(OA) Status: OPEN

License: cc-by, cc-by, cc-by

DOI - Digital Object Identifier: 10.1073/pnas.2412029122

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Citation Count: 0
Identifying gait differences between Alzheimer's disease and dementia with Lewy bodies and their associations with regional amyloid deposition
2025

OPEN

Title: Identifying gait differences between Alzheimer's disease and dementia with Lewy bodies and their associations with regional amyloid deposition

Author(s): Salma Elasfar, Hajr Hameed, Bradley F. Boeve, Julie A. Fields, Clifford R. Jack, Kejal Kantarci, Erik K. St. Louis, Val J. Lowe, Ronald Petersen, Farwa Ali, Kaylena A. Ehgoetz Martens

Journal Name: Alzheimer's & Dementia

Publisher: Wiley

Vol: 21

Issue #: 2

Start Page:

End Page:

Publication Date: 2025-01-27

Open Access(OA) Status: OPEN

License: cc-by-nc-nd

DOI - Digital Object Identifier: 10.1002/alz.14351

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Citation Count: 0

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