MJFF Publications

Resequencing the complete SNCA locus in Indian patients with Parkinson’s disease

2024

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Title: Resequencing the complete SNCA locus in Indian patients with Parkinson’s disease

Author(s): Asha Kishore, Marc Sturm, Kanchana Soman Pillai, Christopher Hakkaart, Divya Kalikavil Puthanveedu, Madhusoodanan Urulangodi, Syam Krishnan, Ashwin Ashok Kumar Sreelatha, Roopa Rajan, Pramod Kumar Pal, Ravi Yadav, Gangadhara Sarma, Nicolas Casadei, Thomas Gasser, Péter Bauer, Julia C. Fitzgerald, Manu Sharma

Journal Name: npj Parkinson's Disease

Publisher: Springer Science and Business Media LLC

Vol: 10

Issue #: 1

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Publication Date: 2024-04-15

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DOI - Digital Object Identifier: 10.1038/s41531-024-00676-4

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MITOCHONDRIAL IMPORT STRESS and PINK1-MEDIATED MITOPHAGY: THE ROLE of the PINK1-TOMM-TIMM23 SUPERCOMPLEX

2024

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Title: MITOCHONDRIAL IMPORT STRESS and PINK1-MEDIATED MITOPHAGY: THE ROLE of the PINK1-TOMM-TIMM23 SUPERCOMPLEX

Author(s): Mohamed A. Eldeeb, Armaan Fallahi, Andrea Soumbasis, Andrew N. Bayne, Jean‐François Trempe, Edward A. Fon

Journal Name: Autophagy

Publisher: Informa UK Limited

Vol:

Issue #:

Start Page: 1

End Page: 3

Publication Date: 2024-04-14

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DOI - Digital Object Identifier: 10.1080/15548627.2024.2340399

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Early deficits in an in vitro striatal microcircuit model carrying the Parkinson’s GBA-N370S mutation

2024

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Title: Early deficits in an in vitro striatal microcircuit model carrying the Parkinson’s GBA-N370S mutation

Author(s): Quyen Do, Humaira Noor, Ricardo Marquez Gomez, Kaitlyn M. L. Cramb, Bryan Ng, Ajantha Abey, Naroa Ibarra-Aizpurua, Maria Claudia Caiazza, Parnaz Sharifi, Charmaine Lang, Dayne Beccano-Kelly, Jimena Baleriola, Nora Bengoa‐Vergniory, Richard Wade‐Martins

Journal Name: npj Parkinson's Disease

Publisher: Springer Science and Business Media LLC

Vol: 10

Issue #: 1

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Publication Date: 2024-04-12

Open Access(OA) Status: RESTRICTED

License: cc-by, cc-by

DOI - Digital Object Identifier: 10.1038/s41531-024-00694-2

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Self-supervised learning for human activity recognition using 700,000 person-days of wearable data

2024

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Title: Self-supervised learning for human activity recognition using 700,000 person-days of wearable data

Author(s): Hang Yuan, Shing Chan, Andrew P. Creagh, Catherine Tong, Aidan Acquah, David A. Clifton, Aiden Doherty

Journal Name: npj Digital Medicine

Publisher: Springer Science and Business Media LLC

Vol: 7

Issue #: 1

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Publication Date: 2024-04-12

Open Access(OA) Status: RESTRICTED

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DOI - Digital Object Identifier: 10.1038/s41746-024-01062-3

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Predictors of stress resilience in Parkinson’s disease and associations with symptom progression

2024

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Title: Predictors of stress resilience in Parkinson’s disease and associations with symptom progression

Author(s): Anouk van der Heide, Lisanne J. Dommershuijsen, Lara Puhlmann, Raffaël Kalisch, Bastiaan R. Bloem, Anne Speckens, Rick C. Helmich

Journal Name: npj Parkinson's Disease

Publisher: Springer Science and Business Media LLC

Vol: 10

Issue #: 1

Start Page:

End Page:

Publication Date: 2024-04-11

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DOI - Digital Object Identifier: 10.1038/s41531-024-00692-4

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RASP: Optimal Single Puncta Detection in Complex Cellular Backgrounds

2024

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Title: RASP: Optimal Single Puncta Detection in Complex Cellular Backgrounds

Author(s): Bin Fu, Ethan J. Brock, Rebecca Andrews, Jonathan C. Breiter, Ruixue Tian, Christina E. Toomey, Joanne Lachica, Tammaryn Lashley, Mina Ryten, Nicholas W. Wood, Michele Vendruscolo, Sonia Gandhi, Lucien E. Weiss, Joseph S. Beckwith, Steven F. Lee

Journal Name: The Journal of Physical Chemistry B

Publisher: American Chemical Society (ACS)

Vol: 128

Issue #: 15

Start Page:

End Page:

Publication Date: 2024-04-09

Open Access(OA) Status: RESTRICTED

License: cc-by, cc-by

DOI - Digital Object Identifier: 10.1021/acs.jpcb.4c00174

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An adapted protocol to derive microglia from stem cells and its application in the study of CSF1R-related disorders

2024

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Title: An adapted protocol to derive microglia from stem cells and its application in the study of CSF1R-related disorders

Author(s): Marie‐France Dorion, Diana Casas, Irina Shlaifer, Moein Yaqubi, Peter Fleming, Nathan Karpilovsky, Carol X.‐Q. Chen, Michaël Nicouleau, Valerio Piscopo, Emma J. MacDougall, Aeshah Alluli, Taylor Goldsmith, Alexandria Schneider, Sonia Dorion, Nathalia Aprahamian, Adam MacDonald, Rhalena A. Thomas, Roy Dudley, Jeffrey A. Hall, Edward A. Fon, Jack Antel, Jo Anne Stratton, Thomas M. Durcan, Roberta La Piana, Luke M. Healy

Journal Name: Molecular Neurodegeneration

Publisher: Springer Science and Business Media LLC

Vol: 19

Issue #: 1

Start Page:

End Page:

Publication Date: 2024-04-05

Open Access(OA) Status: RESTRICTED

License: cc-by

DOI - Digital Object Identifier: 10.1186/s13024-024-00723-x

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Fusion of biomedical imaging studies for increased sample size and diversity: a case study of brain MRI

2024

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Title: Fusion of biomedical imaging studies for increased sample size and diversity: a case study of brain MRI

Author(s): Matias Aiskovich, Eduardo Castro, Jenna Reinen, Shreyas Fadnavis, Anushree Mehta, Hongyang Li, Amit Dhurandhar, Guillermo A. Cecchi, Pablo Polosecki

Journal Name: Frontiers in Radiology

Publisher: Frontiers Media SA

Vol: 4

Issue #:

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Publication Date: 2024-04-05

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DOI - Digital Object Identifier: 10.3389/fradi.2024.1283392

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Twelve Years of Drug Prioritization to Help Accelerate Disease Modification Trials in Parkinson’s Disease: The International Linked Clinical Trials initiative

2024

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Title: Twelve Years of Drug Prioritization to Help Accelerate Disease Modification Trials in Parkinson’s Disease: The International Linked Clinical Trials initiative

Author(s): Richard Wyse, Tom Isaacs, Roger A. Barker, Mark Cookson, Ted M. Dawson, David Devos, David T. Dexter, Joy Duffen, Howard J. Federoff, Brian Fiske, Tom Foltynie, Susan H. Fox, J. Timothy Greenamyre, Karl Kieburtz, Jeffrey H. Kordower, Dimitri Krainc, Helen Matthews, Darren J. Moore, Leah Mursaleen, Michael A. Schwarzschild, Simon Stott, David Sulzer, Per Svenningsson, Caroline M. Tanner, Camille Carroll, David K. Simon, Patrik Brundin

Journal Name: Journal of Parkinson's Disease

Publisher: IOS Press

Vol:

Issue #:

Start Page: 1

End Page: 10

Publication Date: 2024-04-05

Open Access(OA) Status: RESTRICTED

License: cc-by-nc

DOI - Digital Object Identifier: 10.3233/jpd-230363

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Genetic and pharmacological reduction of CDK14 mitigates synucleinopathy

2024

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Title: Genetic and pharmacological reduction of CDK14 mitigates synucleinopathy

Author(s): Jean-Louis Parmasad, Konrad M. Ricke, Benjamin Nguyen, Morgan G. Stykel, Brodie Buchner-Duby, Amanda S. Bruce, Haley Geertsma, Eric Lian, Nathalie A. Lengacher, Steve Callaghan, Alvin Joselin, Julianna J. Tomlinson, Michael G. Schlossmacher, William L. Stanford, Jinmin Ma, Patrik Brundin, Scott D. Ryan, Maxime W.C. Rousseaux

Journal Name: Cell Death & Disease

Publisher: Springer Science and Business Media LLC

Vol: 15

Issue #: 4

Start Page:

End Page:

Publication Date: 2024-04-04

Open Access(OA) Status: RESTRICTED

License: cc-by, cc-by

DOI - Digital Object Identifier: 10.1038/s41419-024-06534-8

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Orthogonal analysis of mitochondrial function in Parkinson’s disease patients

2024

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Title: Orthogonal analysis of mitochondrial function in Parkinson’s disease patients

Author(s): Sander Barnhoorn, Chiara Milanese, Tracy Li, Lone Dons, Mehrnaz Ghazvini, M. Sette, S. Farina, Daisy Sproviero, César Payán‐Gómez, Pier G. Mastroberardino

Journal Name: Cell Death & Disease

Publisher: Springer Science and Business Media LLC

Vol: 15

Issue #: 4

Start Page:

End Page:

Publication Date: 2024-04-03

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License: cc-by

DOI - Digital Object Identifier: 10.1038/s41419-024-06617-6

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RedOx regulation of LRRK2 kinase activity by active site cysteines

2024

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Title: RedOx regulation of LRRK2 kinase activity by active site cysteines

Author(s): Chiara R. Trilling, Jui-Hung Weng, Pallavi Kaila Sharma, Viktoria Nolte, Jian Wu, Wen Ma, Daniela Boassa, Susan S. Taylor, Friedrich W. Herberg

Journal Name: npj Parkinson's Disease

Publisher: Springer Science and Business Media LLC

Vol: 10

Issue #: 1

Start Page:

End Page:

Publication Date: 2024-04-03

Open Access(OA) Status: RESTRICTED

License: cc-by

DOI - Digital Object Identifier: 10.1038/s41531-024-00683-5

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Alterations in Blood Methylome as Potential Epigenetic Biomarker in Sporadic Parkinson's Disease

2024

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Title: Alterations in Blood Methylome as Potential Epigenetic Biomarker in Sporadic Parkinson's Disease

Author(s): Paulina González-Latapí, Bernabé I. Bustos, Siyuan Dong, Steven Lubbe, Tanya Simuni, Dimitri Krainc

Journal Name: Annals of Neurology

Publisher: Wiley

Vol:

Issue #:

Start Page:

End Page:

Publication Date: 2024-04-02

Open Access(OA) Status: RESTRICTED

License: cc-by-nc-nd, cc-by-nc-nd

DOI - Digital Object Identifier: 10.1002/ana.26923

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Identification and structural characterization of small molecule inhibitors of PINK1

2024

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Title: Identification and structural characterization of small molecule inhibitors of PINK1

Author(s): Shafqat Rasool, Tara Shomali, Luc Truong, Nathalie Croteau, Simon Veyron, Bernardo A. Bustillos, Wolfdieter Springer, Fabienne C. Fiesel, Jean‐François Trempe

Journal Name: Scientific Reports

Publisher: Springer Science and Business Media LLC

Vol: 14

Issue #: 1

Start Page:

End Page:

Publication Date: 2024-04-02

Open Access(OA) Status: RESTRICTED

License: cc-by

DOI - Digital Object Identifier: 10.1038/s41598-024-58285-3

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Real-World Experiences of Parkinson's Disease OFF Time and Role of Demographics

2024

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Title: Real-World Experiences of Parkinson's Disease OFF Time and Role of Demographics

Author(s): Radhika Devraj, Ahmad Elkouzi, Marlon R. Tracey

Journal Name: Journal of Patient-Centered Research and Reviews

Publisher: Aurora Health Care, Inc.

Vol: 11

Issue #: 1

Start Page: 8

End Page: 17

Publication Date: 2024-04-02

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DOI - Digital Object Identifier: 10.17294/2330-0698.2057

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Genetic and multi‐omic risk assessment of Alzheimer's disease implicates core associated biological domains

2024

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Title: Genetic and multi‐omic risk assessment of Alzheimer's disease implicates core associated biological domains

Author(s): Gregory A. Cary, Jesse C. Wiley, Jake Gockley, S. Keegan, Sai Sruthi Amirtha Ganesh, Laura M Heath, Robert R. Butler, Lara M. Mangravite, Benjamin A. Logsdon, Frank M. Longo, Aĺlan I. Levey, Anna K. Greenwood, Gregory W. Carter

Journal Name: Alzheimer's & Dementia: Translational Research & Clinical Interventions

Publisher: Wiley

Vol: 10

Issue #: 2

Start Page:

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Publication Date: 2024-04-01

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DOI - Digital Object Identifier: 10.1002/trc2.12461

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Mitochondrial DNA deletions in the cerebrospinal fluid of patients with idiopathic REM sleep behaviour disorder

2024

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Title: Mitochondrial DNA deletions in the cerebrospinal fluid of patients with idiopathic REM sleep behaviour disorder

Author(s): Margalida Puigròs, Anna Calderon, Daniel Martín-Ruiz, Mónica Serradell, Manel Fernández, Amaia Muñoz‐Lopetegi, Gerard Mayà, Joan Santamaría, Carles Gaig, Anna Colell, Eduard Tolosa, Álex Iranzo, Ramón Trullás

Journal Name: eBioMedicine

Publisher: Elsevier BV

Vol: 102

Issue #:

Start Page: 105065

End Page: 105065

Publication Date: 2024-04-01

Open Access(OA) Status: RESTRICTED

License: cc-by-nc

DOI - Digital Object Identifier: 10.1016/j.ebiom.2024.105065

Best OA location URL: http://www.thelancet.com/article/S2352396424001002/pdf

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Peripheral neuronal activation shapes the microbiome and alters gut physiology

2024

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Title: Peripheral neuronal activation shapes the microbiome and alters gut physiology

Author(s): Jessica Griffiths, Byung Hoon Yoo, Peter S. Thuy‐Boun, Victor Cantu, Kelly C. Weldon, Collin Challis, Michael J. Sweredoski, Ken Y. Chan, Taren Thron, Gil Sharon, Annie Moradian, Gregory Humphrey, Qing Zhu, Justin P. Shaffer, Dennis W. Wolan, Pieter C. Dorrestein, Rob Knight, Viviana Gradinaru, Sarkis K. Mazmanian

Journal Name: Cell Reports

Publisher: Elsevier BV

Vol: 43

Issue #: 4

Start Page: 113953

End Page: 113953

Publication Date: 2024-04-01

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DOI - Digital Object Identifier: 10.1016/j.celrep.2024.113953

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Prasinezumab slows motor progression in rapidly progressing early-stage Parkinson’s disease

2024

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Title: Prasinezumab slows motor progression in rapidly progressing early-stage Parkinson’s disease

Author(s): Gennaro Pagano, Kirsten I. Taylor, Judith Cabrera, Tanya Simuni, Kenneth Marek, Ronald B. Postuma, Nicola Pavese, Fabrizio Stocchi, Kathrin Brockmann, Hanno Svoboda, Dylan Trundell, Annabelle Monnet, Rachelle S. Doody, Paulo Fontoura, Geoffrey A. Kerchner, Patrik Brundin, Tania Nikolcheva, Azad Bonni

Journal Name: Nature Medicine

Publisher: Springer Science and Business Media LLC

Vol: 30

Issue #: 4

Start Page: 1096

End Page: 1103

Publication Date: 2024-04-01

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DOI - Digital Object Identifier: 10.1038/s41591-024-02886-y

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The integrated stress response pathway and neuromodulator signaling in the brain: lessons learned from dystonia

2024

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Title: The integrated stress response pathway and neuromodulator signaling in the brain: lessons learned from dystonia

Author(s): Nicole Calakos, Zachary F. Caffall

Journal Name: Journal of Clinical Investigation

Publisher: American Society for Clinical Investigation

Vol: 134

Issue #: 7

Start Page:

End Page:

Publication Date: 2024-04-01

Open Access(OA) Status: RESTRICTED

License: cc-by, cc-by

DOI - Digital Object Identifier: 10.1172/jci177833

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Investigating the aspect of asymmetry in brain-first versus body-first Parkinson’s disease

2024

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Title: Investigating the aspect of asymmetry in brain-first versus body-first Parkinson’s disease

Author(s): Sofie Lövdal, Giulia Carli, Beatrice Orso, Michael Biehl, Dario Arnaldi, Pietro Mattioli, Annette Janzen, Elisabeth Sittig, Silvia Morbelli, Jan Booij, Wolfgang H. Oertel, Klaus L. Leenders, Sanne K. Meles

Journal Name: npj Parkinson's Disease

Publisher: Springer Science and Business Media LLC

Vol: 10

Issue #: 1

Start Page:

End Page:

Publication Date: 2024-03-30

Open Access(OA) Status: RESTRICTED

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DOI - Digital Object Identifier: 10.1038/s41531-024-00685-3

Best OA location URL: https://www.nature.com/articles/s41531-024-00685-3.pdf

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Genotype–phenotype correlation in PRKN-associated Parkinson’s disease

2024

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Title: Genotype–phenotype correlation in PRKN-associated Parkinson’s disease

Author(s): Poornima Jayadev Menon, Sara Sambin, Baptiste Criniere-Boizet, Thomas Courtin, Christelle Tesson, Fanny Casse, Melanie Ferrien, Louise‐Laure Mariani, Stéphanie Carvalho, François‐Xavier Lejeune, Sana Rebbah, Gaspard Martet, Marion Houot, Aymeric Lanore, Graziella Mangone, Elise Roze, Marie Vidailhet, Jan Aasly, Ziv Gan‐Or, Eric Yu, Yves Dauvilliers, Alexander Zimprich, Volker Tomantschger, Walter Pirker, Ignacio Álvarez, Pau Pástor, Alessio Di Fonzo, Kailash P. Bhatia, Francesca Magrinelli, Henry Houlden, Raquel Real, Andrea Quattrone, Patricia Limousin, Prasad Korlipara, Tom Foltynie, Donald Grosset, N. M. Williams, Derek P. Narendra, Hsin-Pin Lin, Čarna Jovanović, Marina Svetel, Timothy Lynch, Amy Gallagher, Wim Vandenberghe, Thomas Gasser, Kathrin Brockmann, Huw R. Morris, Max Borsche, Christine Klein, Olga Corti, Alexis Brice, Suzanne Lesage, Jean‐Christophe Corvol

Journal Name: npj Parkinson's Disease

Publisher: Springer Science and Business Media LLC

Vol: 10

Issue #: 1

Start Page:

End Page:

Publication Date: 2024-03-29

Open Access(OA) Status: RESTRICTED

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DOI - Digital Object Identifier: 10.1038/s41531-024-00677-3

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Structure of alpha-synuclein fibrils derived from human Lewy body dementia tissue

2024

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Title: Structure of alpha-synuclein fibrils derived from human Lewy body dementia tissue

Author(s): Dhruva Dhavale, Alexander M. Barclay, Collin G. Borcik, Katherine Basore, Deborah A. Berthold, Isabelle R. Gordon, Jialu Liu, Moses H. Milchberg, Jennifer Y. O’Shea, Michaël Rau, Zachary Smith, Shamik Sen, Brock Summers, John W. Smith, Owen Warmuth, Richard J. Perrin, Joel S. Perlmutter, Qian Chen, James A.J. Fitzpatrick, Charles D. Schwieters, Emad Tajkhorshid, Chad M. Rienstra, Paul T. Kotzbauer

Journal Name: Nature Communications

Publisher: Springer Science and Business Media LLC

Vol: 15

Issue #: 1

Start Page:

End Page:

Publication Date: 2024-03-29

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DOI - Digital Object Identifier: 10.1038/s41467-024-46832-5

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Development and characterization of a non-human primate model of disseminated synucleinopathy

2024

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Title: Development and characterization of a non-human primate model of disseminated synucleinopathy

Author(s): Alberto J. Rico, Almudena Corcho, Julia Chocarro, Goiaz Ariznabarreta, Elvira Roda, Adriana Honrubia, Patricia Arnáiz, José L. Lanciego

Journal Name: Frontiers in Neuroanatomy

Publisher: Frontiers Media SA

Vol: 18

Issue #:

Start Page:

End Page:

Publication Date: 2024-03-27

Open Access(OA) Status: RESTRICTED

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DOI - Digital Object Identifier: 10.3389/fnana.2024.1355940

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Development of quantitative high-throughput screening assays to identify, validate, and optimize small-molecule stabilizers of misfolded β-glucocerebrosidase with therapeutic potential for Gaucher disease and Parkinson's disease

2024

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Title: Development of quantitative high-throughput screening assays to identify, validate, and optimize small-molecule stabilizers of misfolded β-glucocerebrosidase with therapeutic potential for Gaucher disease and Parkinson's disease

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Publisher: Cold Spring Harbor Laboratory

Vol:

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Publication Date: 2024-03-27

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DOI - Digital Object Identifier: 10.1101/2024.03.22.586364

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