MJFF Publications

A Novel MAG Variant Causes Hereditary Spastic Paraplegia in a Consanguineous Pakistani Family

2024

OPEN

Title: A Novel MAG Variant Causes Hereditary Spastic Paraplegia in a Consanguineous Pakistani Family

Author(s): Rabia Akram, Haseeb Anwar, Humaira Muzaffar, Valentina Turchetti, Tracy Lau, Barbara Vona, Ehtisham Ul Haq Makhdoom, Javed Iqbal, Shahid Mahmood Baig, Ghulam Hussain, Stéphanie Efthymiou, Henry Houlden

Journal Name: Genes

Publisher: MDPI AG

Vol: 15

Issue #: 9

Start Page: 1203

End Page: 1203

Publication Date: 2024-09-13

Open Access(OA) Status: OPEN

License: cc-by, cc-by

DOI - Digital Object Identifier: 10.3390/genes15091203

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Structural and Functional Characterization of the Most Frequent Pathogenic PRKN Substitution p.R275W

2024

OPEN

Title: Structural and Functional Characterization of the Most Frequent Pathogenic PRKN Substitution p.R275W

Author(s): Bernardo A. Bustillos, Liam T. Cocker, Matt Coban, Caleb A. Weber, Jenny M. Bredenberg, Paige K Boneski, Joanna Siuda, Jarosław Sławek, Andreas Puschmann, Derek P. Narendra, Caroline Graff, Zbigniew K. Wszołek, Melissa E. Murray, Owen A. Ross, Thomas R. Caulfield, Wolfdieter Springer, Fabienne C. Fiesel

Journal Name: Cells

Publisher: MDPI AG

Vol: 13

Issue #: 18

Start Page: 1540

End Page: 1540

Publication Date: 2024-09-13

Open Access(OA) Status: OPEN

License: cc-by

DOI - Digital Object Identifier: 10.3390/cells13181540

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RTP801 interacts with the tRNA ligase complex and dysregulates its RNA ligase activity in Alzheimer’s disease

2024

OPEN

Title: RTP801 interacts with the tRNA ligase complex and dysregulates its RNA ligase activity in Alzheimer’s disease

Author(s): Genís Campoy‐Campos, Júlia Solana‐Balaguer, Anna Guisado-Corcoll, Almudena Chicote‐González, Pol Garcia‐Segura, Leticia Pérez‐Sisqués, Adrian Gabriel Torres, Mercè Canal, Laura Molina‐Porcel, Enrique Santamaría, Enrique Santamaría, Lluı́s Ribas de Pouplana, Albert Giralt, Eulàlia Martı́, Albert Giralt, Esther Pérez‐Navarro, Cristina Malagelada

Journal Name: Nucleic Acids Research

Publisher: Oxford University Press (OUP)

Vol: 52

Issue #: 18

Start Page:

End Page:

Publication Date: 2024-09-12

Open Access(OA) Status: OPEN

License: cc-by

DOI - Digital Object Identifier: 10.1093/nar/gkae776

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Understanding what aspects of Parkinson’s disease matter most to patients and families

2024

OPEN

Title: Understanding what aspects of Parkinson’s disease matter most to patients and families

Author(s): Jennifer R. Mammen, Mirinda Brown Tyo, Joyce Cadorette, Jamie Adams, Yuge Xiao, Diane Stephenson, C. Bale

Journal Name: Scientific Reports

Publisher: Springer Science and Business Media LLC

Vol: 14

Issue #: 1

Start Page:

End Page:

Publication Date: 2024-09-11

Open Access(OA) Status: OPEN

License: cc-by-nc-nd

DOI - Digital Object Identifier: 10.1038/s41598-024-71555-4

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Spatial single-cell isotope tracing reveals heterogeneity of de novo fatty acid synthesis in cancer

2024

OPEN

Title: Spatial single-cell isotope tracing reveals heterogeneity of de novo fatty acid synthesis in cancer

Author(s): Elena Buglakova, Måns Ekelöf, Michaela Schwaiger-Haber, Lisa Schlicker, Martijn R. Molenaar, Mohammed Shahraz, Lachlan Stuart, Andreas Eisenbarth, Volker Hilsenstein, Gary J. Patti, Almut Schulze, Marteinn T. Snaebjornsson, Theodore Alexandrov

Journal Name: Nature Metabolism

Publisher: Springer Science and Business Media LLC

Vol: 6

Issue #: 9

Start Page:

End Page:

Publication Date: 2024-09-09

Open Access(OA) Status: OPEN

License: cc-by

DOI - Digital Object Identifier: 10.1038/s42255-024-01118-4

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SVA Regulation of Transposable Element Clustered Transcription within the Major Histocompatibility Complex Genomic Class II Region of the Parkinson’s Progression Markers Initiative

2024

OPEN

Title: SVA Regulation of Transposable Element Clustered Transcription within the Major Histocompatibility Complex Genomic Class II Region of the Parkinson’s Progression Markers Initiative

Author(s): Jerzy K. Kulski, Abigail L. Pfaff, Sulev Kõks

Journal Name: Genes

Publisher: MDPI AG

Vol: 15

Issue #: 9

Start Page: 1185

End Page: 1185

Publication Date: 2024-09-09

Open Access(OA) Status: OPEN

License: cc-by

DOI - Digital Object Identifier: 10.3390/genes15091185

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A novel super-resolution microscopy platform for cutaneous alpha-synuclein detection in Parkinson’s disease

2024

OPEN

Title: A novel super-resolution microscopy platform for cutaneous alpha-synuclein detection in Parkinson’s disease

Author(s): Ofir Sade, Daphna Fischel, Noa Barak-Broner, Shir Halevi, Irit Gottfried, Dana Bar-On, Stefan Sachs, Anat Mirelman, Avner Thaler, Aviv Gour, Meir Kestenbaum, Mali Gana Weisz, Saar Anis, Claudio Soto, Melanie Shanie Roitman, Shimon Shahar, Kathrin Doppler, Markus Sauer, Alessio Di Fonzo, Nirit Lev, Roy N. Alcalay, Sharon Hassin‐Baer, Uri Ashery

Journal Name: Frontiers in Molecular Neuroscience

Publisher: Frontiers Media SA

Vol: 17

Issue #:

Start Page:

End Page:

Publication Date: 2024-09-04

Open Access(OA) Status: OPEN

License: cc-by

DOI - Digital Object Identifier: 10.3389/fnmol.2024.1431549

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Relationships of B12 and Homocysteine with Outcomes in the SURE-PD, SURE-PD3, and STEADY-PDIII Trials

2024

OPEN

Title: Relationships of B12 and Homocysteine with Outcomes in the SURE-PD, SURE-PD3, and STEADY-PDIII Trials

Author(s): Chadwick W. Christine, Peggy Auinger, E. Forti, Lyvin Tat, Noemi Cannizzaro, Andres Yamil Regalado Mustafa, Jay M. Iyer, David Oakes, Ralph Green

Journal Name: Journal of Parkinson's Disease

Publisher: IOS Press

Vol: 14

Issue #: 6

Start Page: 1243

End Page: 1255

Publication Date: 2024-09-03

Open Access(OA) Status: OPEN

License: cc-by-nc

DOI - Digital Object Identifier: 10.3233/jpd-240035

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Cohort-specific Boolean models highlight different regulatory modules during Parkinson’s disease progression

2024

OPEN

Title: Cohort-specific Boolean models highlight different regulatory modules during Parkinson’s disease progression

Author(s): Ahmed Abdelmonem Hemedan, Venkata Satagopam, Reinhard Schneider, Marek Ostaszewski

Journal Name: iScience

Publisher: Elsevier BV

Vol: 27

Issue #: 10

Start Page: 110956

End Page: 110956

Publication Date: 2024-09-01

Open Access(OA) Status: OPEN

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DOI - Digital Object Identifier: 10.1016/j.isci.2024.110956

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Selection of DNA aptamers that prevent the fibrillization of α-synuclein protein in cellular and mouse models

2024

OPEN

Title: Selection of DNA aptamers that prevent the fibrillization of α-synuclein protein in cellular and mouse models

Author(s): Erin M. McConnell, Dennis Chan, Katelyn Ventura, Joshua P. Callahan, Kathryn P. Harris, Vernon Hunt, Spencer Boisjoli, Daniel Knight, Emma Monk, Matthew R. Holahan, Maria C. DeRosa

Journal Name: Molecular Therapy - Nucleic Acids

Publisher: Elsevier BV

Vol: 35

Issue #: 3

Start Page: 102251

End Page: 102251

Publication Date: 2024-09-01

Open Access(OA) Status: OPEN

License: cc-by-nc-nd

DOI - Digital Object Identifier: 10.1016/j.omtn.2024.102251

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Citation Count: 1

SynBot is an open-source image analysis software for automated quantification of synapses

2024

OPEN

Title: SynBot is an open-source image analysis software for automated quantification of synapses

Author(s): Christabel Xin Tan, J.J. Ramirez, W. Christopher Risher, Yizhi Wang, Dolores Irala, Çağla Eroğlu

Journal Name: Cell Reports Methods

Publisher: Elsevier BV

Vol: 4

Issue #: 9

Start Page: 100861

End Page: 100861

Publication Date: 2024-09-01

Open Access(OA) Status: OPEN

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

DOI - Digital Object Identifier: 10.1016/j.crmeth.2024.100861

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An Inducible Luminescent System to Explore Parkinson’s Disease-Associated Genes

2024

OPEN

Title: An Inducible Luminescent System to Explore Parkinson’s Disease-Associated Genes

Author(s): Axel Gandy, Gilles Maussion, S. Al-Habyan, Michaël Nicouleau, Zhipeng You, Carol X.‐Q. Chen, Narges Abdian, Nathalia Aprahamian, Andrea I. Krahn, Louise Larocque, Thomas M. Durcan, Éric Deneault

Journal Name: International Journal of Molecular Sciences

Publisher: MDPI AG

Vol: 25

Issue #: 17

Start Page: 9493

End Page: 9493

Publication Date: 2024-08-31

Open Access(OA) Status: OPEN

License: cc-by

DOI - Digital Object Identifier: 10.3390/ijms25179493

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Bridging the gap: Multi‐omics profiling of brain tissue in Alzheimer's disease and older controls in multi‐ethnic populations

2024

OPEN

Title: Bridging the gap: Multi‐omics profiling of brain tissue in Alzheimer's disease and older controls in multi‐ethnic populations

Author(s): Joseph S. Reddy, Laura Heath, Abby Vander Linden, Mariet Allen, Kátia de Paiva Lopes, Fatemeh Seifar, Erming Wang, Yiyi Ma, William L. Poehlman, Zachary Quicksall, Alexi Runnels, Yanling Wang, Duc M. Duong, Luming Yin, Kaiming Xu, Erica Modeste, Anantharaman Shantaraman, Eric B. Dammer, Lingyan Ping, Stephanie R. Oatman, Jo Scanlan, Charlotte C.G. Ho, Minerva M. Carrasquillo, Merve Atık, Geovanna Yepez, Adriana O. Mitchell, Thuy Nguyen, Xianfeng Chen, David X. Márquez, Hasini Reddy, Harrison Xiao, Sudha Seshadri, Richard Mayeux, Stefan Prokop, Edward B. Lee, Geidy E. Serrano, Thomas G. Beach, Andrew F. Teich, V. Haroutunian, Edward J. Fox, Marla Gearing, Aliza P. Wingo, Thomas S. Wingo, James J. Lah, Allan I. Levey, Dennis W. Dickson, Lisa L. Barnes, Philip L. De Jager, Bin Zhang, David A. Bennett, Nicholas T. Seyfried, Anna K. Greenwood, Nilüfer Ertekin‐Taner

Journal Name: Alzheimer's & Dementia

Publisher: Wiley

Vol:

Issue #:

Start Page:

End Page:

Publication Date: 2024-08-30

Open Access(OA) Status: OPEN

License:

DOI - Digital Object Identifier: 10.1002/alz.14208

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Citation Count: 1

Shared and distinct cortical morphometric alterations in five neuropsychiatric symptoms of Parkinson’s disease

2024

OPEN

Title: Shared and distinct cortical morphometric alterations in five neuropsychiatric symptoms of Parkinson’s disease

Author(s): Qianling Lu, Zhuang Zhu, Heng Zhang, Caiting Gan, Aidi Shan, Mengxi Gao, Huimin Sun, Xingyue Cao, Yongsheng Yuan, Joseph B. Tracy, Qirui Zhang, Kezhong Zhang

Journal Name: Translational Psychiatry

Publisher: Springer Science and Business Media LLC

Vol: 14

Issue #: 1

Start Page:

End Page:

Publication Date: 2024-08-30

Open Access(OA) Status: OPEN

License: cc-by-nc-nd

DOI - Digital Object Identifier: 10.1038/s41398-024-03070-z

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Medication improves velocity, reaction time, and movement time but not amplitude or error during memory‐guided reaching in Parkinson's disease

2024

OPEN

Title: Medication improves velocity, reaction time, and movement time but not amplitude or error during memory‐guided reaching in Parkinson's disease

Author(s): Michael P. Trevarrow, Miranda J. Munoz, Yessenia M. Rivera, Rishabh Arora, Quentin H. Drane, Gian Pal, Leonard Verhagen Metman, Lisa C. Goelz, Daniel M. Corcos, Fabian J. David

Journal Name: Physiological Reports

Publisher: Wiley

Vol: 12

Issue #: 17

Start Page:

End Page:

Publication Date: 2024-08-29

Open Access(OA) Status: OPEN

License: cc-by

DOI - Digital Object Identifier: 10.14814/phy2.16150

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Sensorimotor functioning changes in response to global exercise versus handwriting upper limb exercise training in Parkinson’s disease, results from a phase II randomised controlled trial

2024

OPEN

Title: Sensorimotor functioning changes in response to global exercise versus handwriting upper limb exercise training in Parkinson’s disease, results from a phase II randomised controlled trial

Author(s): Íbis Ariana Peña de Moraes, Johnny Collett, Talita Dias da Silva, Marloes Franssen, Surabhi Mitta, Paweł Zalewski, Andy Meaney, Derick T Wade, Hooshang Izadi, Charlotte Winward, Carlos Bandeira de Mello Monteiro, Helen Dawes

Journal Name: PLOS ONE

Publisher: Public Library of Science (PLoS)

Vol: 19

Issue #: 8

Start Page: e0309217

End Page: e0309217

Publication Date: 2024-08-29

Open Access(OA) Status: OPEN

License: cc-by

DOI - Digital Object Identifier: 10.1371/journal.pone.0309217

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Single-Molecule Fingerprinting Reveals Different Growth Mechanisms in Seed Amplification Assays for Different Polymorphs of α-Synuclein Fibrils

2024

OPEN

Title: Single-Molecule Fingerprinting Reveals Different Growth Mechanisms in Seed Amplification Assays for Different Polymorphs of α-Synuclein Fibrils

Author(s): Derrick Lau, Yuan Tang, Vijaya B. Kenche, Thomas Copie, Daryan Kempe, Eve Jary, Noah J. Graves, Maté Biro, Colin L. Masters, Nicolas Dzamko, Yann Gambin, Emma Sierecki

Journal Name: ACS Chemical Neuroscience

Publisher: American Chemical Society (ACS)

Vol: 15

Issue #: 18

Start Page:

End Page:

Publication Date: 2024-08-28

Open Access(OA) Status: OPEN

License: cc-by-nc-nd

DOI - Digital Object Identifier: 10.1021/acschemneuro.4c00185

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Acceptability of digital health technologies in early Parkinson's disease: lessons from WATCH-PD

2024

OPEN

Title: Acceptability of digital health technologies in early Parkinson's disease: lessons from WATCH-PD

Author(s): Tairmae Kangarloo, Robert D. Latzman, John Adams, Rebecca J. Dorsey, Melissa Kostrzebski, Joan Severson, David G. Anderson, Fay B. Horak, Diane Stephenson, Joshua D. Cosman

Journal Name: Frontiers in Digital Health

Publisher: Frontiers Media SA

Vol: 6

Issue #:

Start Page:

End Page:

Publication Date: 2024-08-26

Open Access(OA) Status: OPEN

License: cc-by

DOI - Digital Object Identifier: 10.3389/fdgth.2024.1435693

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Citation Count: 0

Dynamic balance and gait impairments in Parkinson’s disease: novel cholinergic patterns

2024

OPEN

Title: Dynamic balance and gait impairments in Parkinson’s disease: novel cholinergic patterns

Author(s): Nicolaas I. Bohnen, Uroš Marušič, Stiven Roytman, Rebecca Paalanen, F. Michalakis, Theodore R. Brown, Peter J. H. Scott, Giulia Carli, Roger L. Albin, Prabesh Kanel

Journal Name: Brain Communications

Publisher: Oxford University Press (OUP)

Vol: 6

Issue #: 5

Start Page:

End Page:

Publication Date: 2024-08-26

Open Access(OA) Status: OPEN

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DOI - Digital Object Identifier: 10.1093/braincomms/fcae286

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Cell-specific expression of key mitochondrial enzymes limits OXPHOS in astrocytes of the adult human neocortex and hippocampal formation

2024

OPEN

Title: Cell-specific expression of key mitochondrial enzymes limits OXPHOS in astrocytes of the adult human neocortex and hippocampal formation

Author(s): Árpád Dobolyi, Melinda Cservenák, Attila G. Bagó, Chun Chen, Анна Степанова, Krisztina Paál, Jeonghyoun Lee, Miklós Palkovits, Gavin Hudson, Christos Chinopoulos

Journal Name: Communications Biology

Publisher: Springer Science and Business Media LLC

Vol: 7

Issue #: 1

Start Page:

End Page:

Publication Date: 2024-08-24

Open Access(OA) Status: OPEN

License: cc-by

DOI - Digital Object Identifier: 10.1038/s42003-024-06751-z

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Phosphoglycerate kinase is a central leverage point in Parkinson’s disease–driven neuronal metabolic deficits

2024

OPEN

Title: Phosphoglycerate kinase is a central leverage point in Parkinson’s disease–driven neuronal metabolic deficits

Author(s): Alexandros C. Kokotos, Aldana M. Antoniazzi, Santiago R. Unda, Myung S. Ko, Daehun Park, David Eliezer, Michael G. Kaplitt, Pietro De Camilli, Timothy A. Ryan

Journal Name: Science Advances

Publisher: American Association for the Advancement of Science (AAAS)

Vol: 10

Issue #: 34

Start Page:

End Page:

Publication Date: 2024-08-23

Open Access(OA) Status: OPEN

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DOI - Digital Object Identifier: 10.1126/sciadv.adn6016

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Restoring hippocampal glucose metabolism rescues cognition across Alzheimer’s disease pathologies

2024

OPEN

Title: Restoring hippocampal glucose metabolism rescues cognition across Alzheimer’s disease pathologies

Author(s): Paras S. Minhas, Jeffrey R. Jones, Amira Latif‐Hernandez, Yuki Sugiura, Aarooran S. Durairaj, Qian Wang, Siddhita D. Mhatre, Takeshi Uenaka, Joshua Crapser, Travis E. Conley, Hannah E. Ennerfelt, Yoo Jin Jung, Ling Liu, Praveena Prasad, Brenita C. Jenkins, Yeonglong Albert Ay, Matthew Matrongolo, Ryan Goodman, Traci Fang Newmeyer, Kelly J. Heard, Austin Kang, Edward N. Wilson, Tao Yang, Erik M. Ullian, Geidy E. Serrano, Thomas G. Beach, Marius Wernig, Joshua D. Rabinowitz, Makoto Suematsu, Frank M. Longo, Melanie R. McReynolds, Fred H. Gage, Katrin I. Andreasson

Journal Name: Science

Publisher: American Association for the Advancement of Science (AAAS)

Vol: 385

Issue #: 6711

Start Page:

End Page:

Publication Date: 2024-08-23

Open Access(OA) Status: OPEN

License:

DOI - Digital Object Identifier: 10.1126/science.abm6131

Best OA location URL: https://doi.org/10.1101/2024.06.23.598940

Citation Count: 1

IAPP - oligomerisation levels in plasma of people with type 2 diabetes

2024

OPEN

Title: IAPP - oligomerisation levels in plasma of people with type 2 diabetes

Author(s): Fabian Rehn, Victoria Kraemer‐Schulien, Tuyen Bujnicki, Oliver Bannach, Bengt I. Eriksson, Bernd Stratmann, Dieter Willbold

Journal Name: Scientific Reports

Publisher: Springer Science and Business Media LLC

Vol: 14

Issue #: 1

Start Page:

End Page:

Publication Date: 2024-08-22

Open Access(OA) Status: OPEN

License: cc-by

DOI - Digital Object Identifier: 10.1038/s41598-024-70255-3

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Neuroprotection of low dose carbon monoxide in Parkinson’s disease models commensurate with the reduced risk of Parkinson’s among smokers

2024

OPEN

Title: Neuroprotection of low dose carbon monoxide in Parkinson’s disease models commensurate with the reduced risk of Parkinson’s among smokers

Author(s): Kenneth N Rose, Musab M. Zorlu, Aline Fassini, Hyowon Lee, Waijiao Cai, Xiaochang Xue, Sung‐Han Lin, Pia Kivisäkk, M. A. Schwarzschild, Xiqun Chen, Stephen N. Gomperts

Journal Name: npj Parkinson's Disease

Publisher: Springer Science and Business Media LLC

Vol: 10

Issue #: 1

Start Page:

End Page:

Publication Date: 2024-08-22

Open Access(OA) Status: OPEN

License: cc-by-nc-nd

DOI - Digital Object Identifier: 10.1038/s41531-024-00763-6

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MRI subtypes in Parkinson’s disease across diverse populations and clustering approaches

2024

OPEN

Title: MRI subtypes in Parkinson’s disease across diverse populations and clustering approaches

Author(s): Anna Inguanzo, Rosaleena Mohanty, Konstantinos Poulakis, Daniel Ferreira, Bàrbara Segura, Franziska Albrecht, J‐Sebastian Muehlboeck, Tobias Granberg, Henrik Sjöström, Per Svenningsson, Erika Franzén, Carme Junqué, Eric Westman

Journal Name: npj Parkinson's Disease

Publisher: Springer Science and Business Media LLC

Vol: 10

Issue #: 1

Start Page:

End Page:

Publication Date: 2024-08-16

Open Access(OA) Status: OPEN

License: cc-by

DOI - Digital Object Identifier: 10.1038/s41531-024-00759-2

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Citation Count: 0

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MJFF Publications