MJFF Publications

Multimodal Blood-Based Biomarker Panel Reveals Altered Lysosomal Ionic Content in Alzheimer’s Disease

2024

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Title: Multimodal Blood-Based Biomarker Panel Reveals Altered Lysosomal Ionic Content in Alzheimer’s Disease

Author(s): Senthilkumar Deivasigamani, Shareefa Thekkan, Hernando M. Vergara, Owen Conolly, Mali Cosden, T. Phan, Sean M. Smith, Jacob Marcus, Jason M. Uslaner, Dhivya Venkat, Robert E. Drolet, Yamuna Krishnan, Souvik Modi

Journal Name: ACS Chemical Biology

Publisher: American Chemical Society (ACS)

Vol: 20

Issue #: 1

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End Page:

Publication Date: 2024-12-19

Open Access(OA) Status: RESTRICTED

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DOI - Digital Object Identifier: 10.1021/acschembio.4c00602

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Multimodal oculomotor assessment reveals prodromal markers of Parkinson’s disease in non-manifesting LRRK2 G2019S mutation carriers

2024

OPEN

Title: Multimodal oculomotor assessment reveals prodromal markers of Parkinson’s disease in non-manifesting LRRK2 G2019S mutation carriers

Author(s): Heidi C. Riek, Naomi P. Visanji, Isabell C. Pitigoi, Daniel G. Di Luca, Laura García, Nazish Rafique, Julia E. Perkins, Donald C. Brien, Jeff Huang, Brian C. Coe, Jana Huang, Taneera Ghate, Anthony E. Lang, Connie Marras, Douglas P. Munoz

Journal Name: npj Parkinson's Disease

Publisher: Springer Science and Business Media LLC

Vol: 10

Issue #: 1

Start Page:

End Page:

Publication Date: 2024-12-19

Open Access(OA) Status: OPEN

License: cc-by-nc-nd

DOI - Digital Object Identifier: 10.1038/s41531-024-00840-w

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Sex‐specific mechanisms of cerebral microvascular BKCa dysfunction in a mouse model of Alzheimer's disease

2024

OPEN

Title: Sex‐specific mechanisms of cerebral microvascular BKCa dysfunction in a mouse model of Alzheimer's disease

Author(s): Josiane F. Silva, Felipe D. Polk, Paige E. Martin, Stephenie H. Thai, Andrea Savu, Matthew Gonzales, Allison Kath, Michael T. Gee, Paulo W. Pires

Journal Name: Alzheimer's & Dementia

Publisher: Wiley

Vol: 21

Issue #: 2

Start Page:

End Page:

Publication Date: 2024-12-19

Open Access(OA) Status: OPEN

License: cc-by-nc-nd

DOI - Digital Object Identifier: 10.1002/alz.14438

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Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder

2024

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Title: Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder

Author(s): Gabriel Aughey, Elisa Calì, Reza Maroofian, Maha S. Zaki, Alistair T. Pagnamenta, Zafar Ali, Uzma Abdulllah, Fatima Rahman, Lara Menzies, Anum Shafique, Mohnish Suri, Emmanuel Roze, M. Aguennouz, Zouiri Ghizlane, Saadia Maryam Saadi, Ambrin Fatima, Huma Arshad Cheema, Muhammad Nadeem Anjum, Godeliève Morel, Stéphanie Robin, Robert McFarland, Umut Altunoğlu, Verena Kraus, Moneef Shoukier, David Murphy, Kristina Flemming, Hilde Yttervik, Hajar Rhouda, Gaëtan Lesca, Nicolas Chatron, Massimiliano Rossi, Bibi Nazia Murtaza, Mujaddad Ur Rehman, Jenny Lord, Edoardo Giacopuzzi, Azam Hayat, Muhammad Siraj, Abiodun Bello, Alagoma Iyagba, Alfons Macaya Ruiz, Amira Nabil, Ani Gevorgyan, Anees Muhammad, Belén Pérez‐Dueñas, Benigno Monteagudo Sanchez, Biayna Sukhudyan, Blagovesta Marinova Karashova, Burçin Şanlıdağ, Carmela Scuderi, Chingiz Shashkin, Cleanthe Spanaki, Efthimios Dardiotis, Erin Torti, Ernest Nwazor, Erum Afzal, Eugenia Borgione, Mohd. Farooq Shaikh, Fuad Al-Mutairi, Gabriella Di Rosa, Gali Heimer, Georgia Xiromerisiou, Gia Melikishvili, Giovanna Morello, Hadil Kathom, Hüseyin Per, Hoda Tomoum, Iram Javed, Issam Al-Khawaja, Kairgali Koneyev, Kamran Salayev, K Moodley, Konstantin Senkevich, Larissa Arning, Liana Fidani, Lolade Taiwo, Maia Beridze, Manizha Ganieva, Mariam Isayan, Mariam Kekenadze, Mayte García-Silva, Michail Vikelis, Nazi Tabatadze, Nazira Zharkynbekova, Nuzhat Rana, Olapeju Oguntunde, Oluchi Ekenze, Oluwadamilola O. Ojo, Osama Atawneh, Paola Nicolaides, Prince Kazadi, Rauan Kaiyrzhanov, Reza Maroofian, Richard G. Boles, Rima Ibadova, Salvatore Savasta, Samson Khachatryan, Simona Portaro, Stéphanie Efthymiou, Sughra Guliyeva, Tanya Stojkovic, Uduak Williams, Ulviyya Guliyeva, Vincenzo Salpietro, Viorica Chelban, Wolfgang Nachbauer, Yahaya Obiabo, Zaruhi Tavadyan, Zhibek Zholdasova, Zomer Sardar, Abdullah Al‐Ajmi, Alberto Verrotti, Anouk den Braber, Barbara Garavaglia, Bru Cormand, Dagmar Timmann, Daniela Avdjieva, Eleni Zamba Papanicolaou, Fowzan S. Alkuraya, Gabriella Silvestri, Georgios Koutsis, Gian Luigi Marseglia, Halise Neslihan Önemli Mungan, Jatinder S. Goraya, Jun Mine, Kolawole Wahab, Massimo Zollo, Mercedes Pineda-Marfa, M. Aguennouz, Michel D. Ferrari, Mohamed Hamed, M. El Khorassani, Morenikeji Komolafe, Njideka Okubadejo, Pasquale Striano, Pierangelo Veggiotti, Radka Tincheva, Salman Kirmani, Salvatore Mangano, S Abubakar, Savvas Papacostas, Selina Banu, Shahnaz Ibrahim, Shazia Maqbool, Shen‐Yang Lim, Sherifa A. Hamed, Stanislav Groppa, Sylvia Boesch, Tipu Sultan, Yves Dauvilliers, Dauren Zhumakhanov, Reza Shervin Badv, Go Hun Seo, Christian Beetz, Hülya Kayserili, Yamna Krioulie, Wendy K. Chung, Sadaf Naz, Shazia Maqbool, Kate Chandler, Christopher J. Kershaw, Thomas Wright, Siddharth Banka, Joseph G. Gleeson, Jenny C. Taylor, Stéphanie Efthymiou, Shahid Mahmood Baig, Mariasavina Severino, James E.C. Jepson, Henry Houlden

Journal Name: Brain

Publisher: Oxford University Press (OUP)

Vol: 148

Issue #: 4

Start Page:

End Page:

Publication Date: 2024-12-18

Open Access(OA) Status: RESTRICTED

License: cc-by, cc-by

DOI - Digital Object Identifier: 10.1093/brain/awae363

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Biallelic NDUFA13 variants lead to a neurodevelopmental phenotype with gradual neurological impairment

2024

OPEN

Title: Biallelic NDUFA13 variants lead to a neurodevelopmental phenotype with gradual neurological impairment

Author(s): Rauan Kaiyrzhanov, Kyle Thompson, Stéphanie Efthymiou, Askhat Mukushev, Akbota Zharylkassyn, Chitra Prasad, Ehsan Ghayoor Karimiani, Javeria Raza Alvi, Dmitriy Niyazov, Ahmad Alahmad, Meisam Babaei, Homa Tajsharghi, Buthaina Albash, Ahmad Alaqeel, Majida Charif, Narges Hashemi, Morteza Heidari, Seyed Mehdi Kalantar, Guy Lenaers, Mohammad Yahya Vahidi Mehrjardi, Varunvenkat M. Srinivasan, Vykuntaraju K. Gowda, Seyed Hamidreza Mirabutalebi, Deanna Alexis Carere, Mojtaba Movahedinia, David Murphy, Robert McFarland, Mohamed S. Abdel‐Hamid, Rasha M. Elhossini, Shahryar Alavi, Melanie Napier, Amaya Bélanger-Quintana, Asuri N. Prasad, Jessica Jakobczyk, Agathe Roubertie, Tony Rupar, Tipu Sultan, Mehran Beiraghi Toosi, Leonid A. Sazanov, Mariasavina Severino, Henry Houlden, Robert W. Taylor, Reza Maroofian

Journal Name: Brain Communications

Publisher: Oxford University Press (OUP)

Vol: 7

Issue #: 1

Start Page:

End Page:

Publication Date: 2024-12-17

Open Access(OA) Status: OPEN

License: cc-by, cc-by

DOI - Digital Object Identifier: 10.1093/braincomms/fcae453

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Citation Count: 1

Enhanced detection of distinct honeycomb-structured neuronal SMARCC2 cytobodies in Parkinson’s Disease via Cyclic Heat-Induced Epitope Retrieval (CHIER)

2024

OPEN

Title: Enhanced detection of distinct honeycomb-structured neuronal SMARCC2 cytobodies in Parkinson’s Disease via Cyclic Heat-Induced Epitope Retrieval (CHIER)

Author(s): Amber Carmichael-Lowe, Bethany F. M. Fleming, Kreesan Reddy, James A. Wiseman, Eden Paige Yin, Clinton Turner, Richard L. M. Faull, Maurice A. Curtis, Mike Dragunow, Birger Victor Dieriks

Journal Name: PLOS ONE

Publisher: Public Library of Science (PLoS)

Vol: 19

Issue #: 12

Start Page: e0315183

End Page: e0315183

Publication Date: 2024-12-17

Open Access(OA) Status: OPEN

License: cc-by

DOI - Digital Object Identifier: 10.1371/journal.pone.0315183

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PINK1 is a target of T cell responses in Parkinson's disease

2024

OPEN

Title: PINK1 is a target of T cell responses in Parkinson's disease

Author(s): Gregory P. Williams, Antoine Freuchet, T. Michaelis, April Frazier, Ngan Tran, João Rodrigues Lima-Júnior, Elizabeth J. Phillips, S. Mallal, Irene Litvan, Jennifer G. Goldman, Roy N. Alcalay, John Sidney, David Sulzer, Alessandro Sette, Cecilia S. Lindestam Arlehamn

Journal Name: Journal of Clinical Investigation

Publisher: American Society for Clinical Investigation

Vol: 135

Issue #: 4

Start Page:

End Page:

Publication Date: 2024-12-17

Open Access(OA) Status: OPEN

License: cc-by, cc-by

DOI - Digital Object Identifier: 10.1172/jci180478

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Biochemical and neurophysiological effects of deficiency of the mitochondrial import protein TIMM50

2024

OPEN

Title: Biochemical and neurophysiological effects of deficiency of the mitochondrial import protein TIMM50

Author(s): Eyal Paz, Sahil Jain, Irit Gottfried, Orna Staretz‐Chacham, Muhammad Mahajnah, Pritha Bagchi, Nicholas T. Seyfried, Uri Ashery, Abdussalam Azem

Journal Name: eLife

Publisher: eLife Sciences Publications, Ltd

Vol: 13

Issue #:

Start Page:

End Page:

Publication Date: 2024-12-16

Open Access(OA) Status: OPEN

License: cc-by

DOI - Digital Object Identifier: 10.7554/elife.99914.3

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Changes in Action Tremor in Parkinson's Disease over Time: Clinical and Neuroimaging Correlates

2024

OPEN

Title: Changes in Action Tremor in Parkinson's Disease over Time: Clinical and Neuroimaging Correlates

Author(s): Kevin R.E. van den Berg, Martin E. Johansson, Michiel F. Dirkx, Bastiaan R. Bloem, Rick C. Helmich

Journal Name: Movement Disorders

Publisher: Wiley

Vol: 40

Issue #: 2

Start Page:

End Page:

Publication Date: 2024-12-16

Open Access(OA) Status: OPEN

License: cc-by-nc-nd

DOI - Digital Object Identifier: 10.1002/mds.30081

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Elevated cholesterol is a common phenotype for dominant and recessive ATAD3-associated disorders

2024

OPEN

Title: Elevated cholesterol is a common phenotype for dominant and recessive ATAD3-associated disorders

Author(s): Ann-Sophie Kiesel, Lucia Laugwitz, Rebecca Buchert, Mona Grimmel, Sarah Baumann, Marc Sturm, Selina Reich, Martje G. Pauly, Norbert Brüggemann, Alexander Münchau, Olga Oleksiuk, Matthis Synofzik, Tobias B. Haack, Susana Peralta

Journal Name: Brain

Publisher: Oxford University Press (OUP)

Vol: 148

Issue #: 4

Start Page:

End Page:

Publication Date: 2024-12-12

Open Access(OA) Status: OPEN

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DOI - Digital Object Identifier: 10.1093/brain/awae402

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Mitochondrial oxidant stress promotes α-synuclein aggregation and spreading in mice with mutated glucocerebrosidase

2024

OPEN

Title: Mitochondrial oxidant stress promotes α-synuclein aggregation and spreading in mice with mutated glucocerebrosidase

Author(s): Pietro La Vitola, Éva M. Szegő, Rita Pinto‐Costa, Angela Rollar, Eugenia Harbachova, Anthony H.V. Schapira, Ayşe Ulusoy, Donato A. Di Monte

Journal Name: npj Parkinson's Disease

Publisher: Springer Science and Business Media LLC

Vol: 10

Issue #: 1

Start Page:

End Page:

Publication Date: 2024-12-11

Open Access(OA) Status: OPEN

License: cc-by, cc-by

DOI - Digital Object Identifier: 10.1038/s41531-024-00842-8

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–Structural Changes in Early-stage Parkinson’s Disease with Resting Tremor at Node, Edge and Network Level

2024

OPEN

Title: –Structural Changes in Early-stage Parkinson’s Disease with Resting Tremor at Node, Edge and Network Level

Author(s): Yuke Zhong, Ying Liu, Huahua Su, Hang Liu, Guohui Liu, Zhihui Liu, Jiahao Wei, Jindong Wang, Yunlang She, Changhong Tan, Lijuan Mo, Lin Han, Fen Deng, Xi Liu, Lifen Chen

Journal Name: Brain Research Bulletin

Publisher: Elsevier BV

Vol: 220

Issue #:

Start Page: 111169

End Page: 111169

Publication Date: 2024-12-11

Open Access(OA) Status: OPEN

License: cc-by-nc-nd

DOI - Digital Object Identifier: 10.1016/j.brainresbull.2024.111169

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A simulated annealing algorithm for randomizing weighted networks

2024

OPEN

Title: A simulated annealing algorithm for randomizing weighted networks

Author(s): Filip Milisav, Vincent Bazinet, Richard F. Betzel, Bratislav Mišić

Journal Name: Nature Computational Science

Publisher: Springer Science and Business Media LLC

Vol: 5

Issue #: 1

Start Page:

End Page:

Publication Date: 2024-12-10

Open Access(OA) Status: OPEN

License: cc-by

DOI - Digital Object Identifier: 10.1038/s43588-024-00735-z

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The amplification of alpha‐synuclein amyloid fibrils is suppressed under fully quiescent conditions

2024

OPEN

Title: The amplification of alpha‐synuclein amyloid fibrils is suppressed under fully quiescent conditions

Author(s): Azad Farzadfard, Thomas O. Mason, Antonín Kunka, Hossein Mohammad‐Beigi, Kaare Bjerregaard-Andersen, Jonas Folke, Susana Aznar, Pekka Kallunki, Alexander K. Buell

Journal Name: Angewandte Chemie International Edition

Publisher: Wiley

Vol: 64

Issue #: 7

Start Page:

End Page:

Publication Date: 2024-12-09

Open Access(OA) Status: OPEN

License: cc-by-nc

DOI - Digital Object Identifier: 10.1002/anie.202419173

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Bidirectional relationship between olfaction and Parkinson’s disease

2024

OPEN

Title: Bidirectional relationship between olfaction and Parkinson’s disease

Author(s): Jonggeol Jeffrey Kim, Sara Bandrés‐Ciga, Karl Heilbron, Stella Aslibekyan, Adam Auton, Elizabeth Babalola, Robert K. Bell, Jessica Bielenberg, Jonathan Bowes, Katarzyna Bryc, Ninad S. Chaudhary, Daniella Coker, Sayantan Das, Emily DelloRusso, Sarah L. Elson, Nicholas Eriksson, Teresa Filshtein, Pierre Fontanillas, Will Freyman, Zach Fuller, Chris German, Julie M. Granka, Alejandro Hernandez, Barry Hicks, David A. Hinds, Ethan M. Jewett, Yunxuan Jiang, Katelyn Kukar, Alan Kwong, Yanyu Liang, Keng‐Han Lin, Bianca A. Llamas, Matthew H. McIntyre, Steven J. Micheletti, Meghan E. Moreno, Priyanka Nandakumar, Dominique T. Nguyen, Jared O’Connell, Aaron A. Petrakovitz, G. David Poznik, Alexandra Reynoso, Shubham Saini, Morgan Schumacher, Leah Selcer, Anjali J. Shastri, Janie F. Shelton, Jingchunzi Shi, Suyash Shringarpure, Qiaojuan Jane Su, Susana A. Tat, Vinh Tran, Joyce Y. Tung, Xin Wang, Wei Wang, Catherine H. Weldon, Peter Wilton, Corinna D. Wong, Cornelis Blauwendraat, Alastair J. Noyce

Journal Name: npj Parkinson's Disease

Publisher: Springer Science and Business Media LLC

Vol: 10

Issue #: 1

Start Page:

End Page:

Publication Date: 2024-12-05

Open Access(OA) Status: OPEN

License: cc-by

DOI - Digital Object Identifier: 10.1038/s41531-024-00838-4

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Endo-IP and lyso-IP toolkit for endolysosomal profiling of human-induced neurons

2024

OPEN

Title: Endo-IP and lyso-IP toolkit for endolysosomal profiling of human-induced neurons

Author(s): Frances V Hundley, Miguel A. Gonzalez‐Lozano, Lena M. Gottschalk, Aslan N. K. Cook, Jiuchun Zhang, João A. Paulo, J. Wade Harper

Journal Name: Proceedings of the National Academy of Sciences

Publisher: Proceedings of the National Academy of Sciences

Vol: 121

Issue #: 52

Start Page:

End Page:

Publication Date: 2024-12-05

Open Access(OA) Status: OPEN

License: cc-by, cc-by

DOI - Digital Object Identifier: 10.1073/pnas.2419079121

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Temporal control of acute protein aggregate turnover by UBE3C and NRF1-dependent proteasomal pathways

2024

OPEN

Title: Temporal control of acute protein aggregate turnover by UBE3C and NRF1-dependent proteasomal pathways

Author(s): Kelsey Hickey, Alexandra Panov, Enya Miguel Whelan, Tillman Schäfer, Arda Mizrak, Ron R. Kopito, Wolfgang Baumeister, Rubén Fernández‐Busnadiego, J. Wade Harper

Journal Name: Proceedings of the National Academy of Sciences

Publisher: Proceedings of the National Academy of Sciences

Vol: 121

Issue #: 50

Start Page:

End Page:

Publication Date: 2024-12-05

Open Access(OA) Status: OPEN

License: cc-by, cc-by

DOI - Digital Object Identifier: 10.1073/pnas.2417390121

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The ZFHX3 GGC Repeat Expansion Underlying Spinocerebellar Ataxia Type 4 has a Common Ancestral Founder

2024

OPEN

Title: The ZFHX3 GGC Repeat Expansion Underlying Spinocerebellar Ataxia Type 4 has a Common Ancestral Founder

Author(s): Zhongbo Chen, Pilar Álvarez Jerez, Claire Anderson, Martin Paucar, Jasmaine Lee, Daniel Nilsson, Hannah Macpherson, Annarita Scardamaglia, Kylie Montgomery, John Hardy, Andrew B. Singleton, Arianna Tucci, Katherine D. Mathews, Ying‐Hui Fu, Martin Engvall, José Miguel Laffita‐Mesa, Inger Nennesmo, Anna Wedell, Louis J. Ptáček, Cornelis Blauwendraat, Emil K. Gustavsson, Per Svenningsson, Mina Ryten, Henry Houlden

Journal Name: Movement Disorders

Publisher: Wiley

Vol: 40

Issue #: 2

Start Page:

End Page:

Publication Date: 2024-12-05

Open Access(OA) Status: OPEN

License: cc-by, cc-by

DOI - Digital Object Identifier: 10.1002/mds.30077

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Arrayed CRISPR libraries for the genome-wide activation, deletion and silencing of human protein-coding genes

2024

OPEN

Title: Arrayed CRISPR libraries for the genome-wide activation, deletion and silencing of human protein-coding genes

Author(s): Jiang‐An Yin, Lukas Frick, Manuel C. Scheidmann, Tingting Liu, Chiara Trevisan, Ashutosh Dhingra, Anna Spinelli, Yancheng Wu, Longping Yao, Dalila Laura Vena, Britta Knapp, Jingjing Guo, Elena De Cecco, Kathi Ging, Andrea Armani, Edward J. Oakeley, Florian Nigsch, Joel Jenzer, Jasmin Haegele, Michal Pikusa, Joachim Täger, Salvador Rodrı́guez-Nieto, Vangelis Bouris, Rafaela Vanin Pinto Ribeiro, Federico Baroni, Manmeet Sakshi Bedi, Scott M. Berry, Marco Losa, Simone Hornemann, Martin Kampmann, Lucas Pelkmans, Dominic Hoepfner, Peter Heutink, Adriano Aguzzi

Journal Name: Nature Biomedical Engineering

Publisher: Springer Science and Business Media LLC

Vol: 9

Issue #: 1

Start Page:

End Page:

Publication Date: 2024-12-04

Open Access(OA) Status: OPEN

License: cc-by

DOI - Digital Object Identifier: 10.1038/s41551-024-01278-4

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Citation Count: 2

Slovak database of speech affected by neurodegenerative diseases

2024

OPEN

Title: Slovak database of speech affected by neurodegenerative diseases

Author(s): Milan Rusko, Róbert Sabo, Marián Trnka, Alfréd Zimmermann, Richard Malaschitz, Eugen Ružický, Petra Brandoburová, Viktória Kevická, Matěj Škorvánek

Journal Name: Scientific Data

Publisher: Springer Science and Business Media LLC

Vol: 11

Issue #: 1

Start Page:

End Page:

Publication Date: 2024-12-04

Open Access(OA) Status: OPEN

License: cc-by-nc-nd

DOI - Digital Object Identifier: 10.1038/s41597-024-04171-6

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Citation Count: 0

Validation of Parkinson's Disease Ascertainment in the Veterans Administration Electronic Medical Record

2024

OPEN

Title: Validation of Parkinson's Disease Ascertainment in the Veterans Administration Electronic Medical Record

Author(s): Samuel M. Goldman, Frances M. Weaver, Lishan Cao, Beverly González, Kevin T. Stroupe, Kalea Colletta, Shamil Jugnundan, Ethan G. Brown, Caroline M. Tanner

Journal Name: Movement Disorders

Publisher: Wiley

Vol: 40

Issue #: 2

Start Page:

End Page:

Publication Date: 2024-12-04

Open Access(OA) Status: OPEN

License: cc-by-nc-nd

DOI - Digital Object Identifier: 10.1002/mds.30075

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Citation Count: 1

A data-driven model of disability progression in progressive multiple sclerosis

2024

OPEN

Title: A data-driven model of disability progression in progressive multiple sclerosis

Author(s): Sara Garbarino, Carmen Tur, Marco Lorenzi, Matteo Pardini, Michele Piana, Antonio Uccelli, Douglas L. Arnold, Bruce Cree, Maria Pia Sormani, Francesca Bovis

Journal Name: Brain Communications

Publisher: Oxford University Press (OUP)

Vol: 7

Issue #: 1

Start Page:

End Page:

Publication Date: 2024-12-03

Open Access(OA) Status: OPEN

License: cc-by

DOI - Digital Object Identifier: 10.1093/braincomms/fcae434

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Citation Count: 1

Cortical complexity alterations in motor subtypes of Parkinson's disease: A surface‐based morphometry analysis of fractal dimension

2024

OPEN

Title: Cortical complexity alterations in motor subtypes of Parkinson's disease: A surface‐based morphometry analysis of fractal dimension

Author(s): Yousef Dehghan, Yashar Sarbaz

Journal Name: European Journal of Neuroscience

Publisher: Wiley

Vol: 60

Issue #: 12

Start Page:

End Page:

Publication Date: 2024-12-03

Open Access(OA) Status: OPEN

License:

DOI - Digital Object Identifier: 10.1111/ejn.16612

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Identification of isoAsp7-Aβ as a major Aβ variant in Alzheimer’s disease, dementia with Lewy bodies and vascular dementia

2024

OPEN

Title: Identification of isoAsp7-Aβ as a major Aβ variant in Alzheimer’s disease, dementia with Lewy bodies and vascular dementia

Author(s): Sarah Schrempel, Anna Katharina Kottwitz, Anke Piechotta, Kathrin Gnoth, Luca Büschgens, Maike Hartlage‐Rübsamen, Markus Morawski, Mathias Schenk, Martin Kleinschmidt, Geidy E. Serrano, Thomas G. Beach, Agueda Rostagno, Jorge Ghiso, Michael T. Heneka, Jochen Walter, Oliver Wirths, Stephan Schilling, Steffen Roßner

Journal Name: Acta Neuropathologica

Publisher: Springer Science and Business Media LLC

Vol: 148

Issue #: 1

Start Page:

End Page:

Publication Date: 2024-12-03

Open Access(OA) Status: OPEN

License: cc-by

DOI - Digital Object Identifier: 10.1007/s00401-024-02824-9

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Pharmacological targeting of dopamine D1 or D2 receptors evokes a rapid‐onset parkinsonian motor phenotype in mice

2024

OPEN

Title: Pharmacological targeting of dopamine D1 or D2 receptors evokes a rapid‐onset parkinsonian motor phenotype in mice

Author(s): Christian del Agua Villa, Mihai Atudorei, Hartwig R. Siebner, Mattias Rickhag

Journal Name: European Journal of Neuroscience

Publisher: Wiley

Vol: 60

Issue #: 12

Start Page:

End Page:

Publication Date: 2024-12-03

Open Access(OA) Status: OPEN

License: cc-by

DOI - Digital Object Identifier: 10.1111/ejn.16622

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African ancestry neurodegeneration risk variant disrupts an intronic branchpoint in GBA1

2024

OPEN

Title: African ancestry neurodegeneration risk variant disrupts an intronic branchpoint in GBA1

Author(s): Pilar Álvarez Jerez, Peter Wild Crea, Daniel M. Ramos, Emil K. Gustavsson, Mandy Radefeldt, Andrey Damianov, Mary B. Makarious, Oluwadamilola O. Ojo, Kimberley J. Billingsley, Laksh Malik, Kensuke Daida, Sarah Bromberek, Fangle Hu, Zachary Schneider, Aditya Surapaneni, Julia T. Stadler, Mie Rizig, Huw R. Morris, Caroline B. Pantazis, Hampton L. Leonard, Laurel A. Screven, Yue Qi, M. A. Nalls, Sara Bandrés‐Ciga, John Hardy, Henry Houlden, Celeste Eng, Esteban G. Burchard, Linda Kachuri, Chia-Ho Lin, Douglas L. Black, M. A. Nalls, Andrew B. Singleton, Steffen Fischer, Peter Bauer, Xylena Reed, Mina Ryten, Christian Beetz, Michael E. Ward, Njideka Okubadejo, Cornelis Blauwendraat

Journal Name: Nature Structural & Molecular Biology

Publisher: Springer Science and Business Media LLC

Vol: 31

Issue #: 12

Start Page: 1955

End Page: 1963

Publication Date: 2024-12-01

Open Access(OA) Status: OPEN

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

DOI - Digital Object Identifier: 10.1038/s41594-024-01423-2

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Excessive Daytime Sleepiness as a Risk Factor for Impulse Control Disorders in Parkinson’s Disease

2024

OPEN

Title: Excessive Daytime Sleepiness as a Risk Factor for Impulse Control Disorders in Parkinson’s Disease

Author(s): Xiaohui Tang, Qian Liang, Tao Li, Yi Ouyang, Zhe Huang, X.-F. Tang, Jiayi Jin, Lijia Yu, Xijin Wang

Journal Name: Neuropsychiatric Disease and Treatment

Publisher: Informa UK Limited

Vol: Volume 20

Issue #:

Start Page: 2517

End Page: 2527

Publication Date: 2024-12-01

Open Access(OA) Status: OPEN

License: cc-by-nc

DOI - Digital Object Identifier: 10.2147/ndt.s485339

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Global Perspectives on Returning Genetic Research Results in Parkinson Disease

2024

RESTRICTED

Title: Global Perspectives on Returning Genetic Research Results in Parkinson Disease

Author(s): Ai Huey Tan, Paula Saffie Awad, Artur Francisco Schumacher Schuh, Shen‐Yang Lim, Harutyun Madoev, Azlina Ahmad, Justin Solle, Claire E. Wegel, Maria Leila Doquenia, Sumit Dey, María Teresa Periñán, Mary B. Makarious, Brian P. Fiske, Huw R. Morris, Alastair J. Noyce, Roy N. Alcalay, Kishore R. Kumar, Christine Klein

Journal Name: Neurology Genetics

Publisher: Ovid Technologies (Wolters Kluwer Health)

Vol: 10

Issue #: 6

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Publication Date: 2024-12-01

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DOI - Digital Object Identifier: 10.1212/nxg.0000000000200213

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Longitudinal correlation of cerebrospinal fluid GFAP and the progression of cognition decline in different clinical subtypes of Parkinson's disease

2024

OPEN

Title: Longitudinal correlation of cerebrospinal fluid GFAP and the progression of cognition decline in different clinical subtypes of Parkinson's disease

Author(s): Yumei Liu, Jing Wang, Fangbo Ning, Guojun Wang, Anmu Xie

Journal Name: Clinical and Translational Science

Publisher: Wiley

Vol: 17

Issue #: 12

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End Page:

Publication Date: 2024-12-01

Open Access(OA) Status: OPEN

License: cc-by-nc-nd

DOI - Digital Object Identifier: 10.1111/cts.70111

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Opto-Avoidance-Elevated Plus Maze protocol to study positive or negative valence upon optogenetic stimulation in the mouse brain

2024

OPEN

Title: Opto-Avoidance-Elevated Plus Maze protocol to study positive or negative valence upon optogenetic stimulation in the mouse brain

Author(s): Gian Pietro Serra, François Georges, Åsa Wallén‐Mackenzie

Journal Name: STAR Protocols

Publisher: Elsevier BV

Vol: 5

Issue #: 4

Start Page: 103474

End Page: 103474

Publication Date: 2024-12-01

Open Access(OA) Status: OPEN

License: cc-by, cc-by

DOI - Digital Object Identifier: 10.1016/j.xpro.2024.103474

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Structural Basis for the Pathogenicity of Parkin Catalytic Domain Mutants

2024

RESTRICTED

Title: Structural Basis for the Pathogenicity of Parkin Catalytic Domain Mutants

Author(s): Julian P. Wagner, Véronique Sauvé, Anshu Saran, Kalle Gehring

Journal Name: Journal of Biological Chemistry

Publisher: Elsevier BV

Vol: 301

Issue #: 1

Start Page: 108051

End Page: 108051

Publication Date: 2024-12-01

Open Access(OA) Status: RESTRICTED

License: cc-by

DOI - Digital Object Identifier: 10.1016/j.jbc.2024.108051

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Citation Count: 1

MJF-14 proximity ligation assay detects early non-inclusion alpha-synuclein pathology with enhanced specificity and sensitivity

2024

OPEN

Title: MJF-14 proximity ligation assay detects early non-inclusion alpha-synuclein pathology with enhanced specificity and sensitivity

Author(s): Nanna Møller Jensen, YuHong Fu, Cristine Betzer, Hongyun Li, Sara Elfarrash, Ali H. Shaib, Donatus Krah, Zagorka Vitic, Lasse Reimer, Hjalte Gram, Vladimir L. Buchman, Mark Denham, Silvio O. Rizzoli, Glenda M. Halliday, Poul Henning Jensen

Journal Name: npj Parkinson's Disease

Publisher: Springer Science and Business Media LLC

Vol: 10

Issue #: 1

Start Page:

End Page:

Publication Date: 2024-11-29

Open Access(OA) Status: OPEN

License: cc-by-nc-nd

DOI - Digital Object Identifier: 10.1038/s41531-024-00841-9

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Seeding activity of skin misfolded tau as a biomarker for tauopathies

2024

OPEN

Title: Seeding activity of skin misfolded tau as a biomarker for tauopathies

Author(s): Zerui Wang, Ling Wu, Maria Gerasimenko, Tricia Gilliland, Syed Zahid Ali Shah, Evalynn Lomax, Yirong Yang, Steven A. Gunzler, Vincenzo Donadio, Rocco Liguori, Bin Xu, Wen‐Quan Zou

Journal Name: Molecular Neurodegeneration

Publisher: Springer Science and Business Media LLC

Vol: 19

Issue #: 1

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End Page:

Publication Date: 2024-11-29

Open Access(OA) Status: OPEN

License: cc-by

DOI - Digital Object Identifier: 10.1186/s13024-024-00781-1

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A proteome-wide quantitative platform for nanoscale spatially resolved extraction of membrane proteins into native nanodiscs

2024

OPEN

Title: A proteome-wide quantitative platform for nanoscale spatially resolved extraction of membrane proteins into native nanodiscs

Author(s): Caroline Brown, Snehasish Ghosh, Rachel McAllister, Mukesh Kumar, Gerard Walker, Eric I. Sun, Talat Aman, Aniruddha Panda, Shailesh Kumar, Wenxue Li, Jeff Coleman, Yansheng Liu, James E. Rothman, Moitrayee Bhattacharyya, Kallol Gupta

Journal Name: Nature Methods

Publisher: Springer Science and Business Media LLC

Vol: 22

Issue #: 2

Start Page:

End Page:

Publication Date: 2024-11-28

Open Access(OA) Status: OPEN

License: cc-by, cc-by

DOI - Digital Object Identifier: 10.1038/s41592-024-02517-x

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Enhancement and evaluation for deep learning-based classification of volumetric neuroimaging with 3D-to-2D knowledge distillation

2024

OPEN

Title: Enhancement and evaluation for deep learning-based classification of volumetric neuroimaging with 3D-to-2D knowledge distillation

Author(s): Hyemin Yoon, Do-Young Kang, Sangjin Kim

Journal Name: Scientific Reports

Publisher: Springer Science and Business Media LLC

Vol: 14

Issue #: 1

Start Page:

End Page:

Publication Date: 2024-11-28

Open Access(OA) Status: OPEN

License: cc-by-nc-nd

DOI - Digital Object Identifier: 10.1038/s41598-024-80938-6

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Discordance Between Balance Ability and Perception Is Associated With Falls in Parkinson’s Disease: A Coordinated Analysis

2024

RESTRICTED

Title: Discordance Between Balance Ability and Perception Is Associated With Falls in Parkinson’s Disease: A Coordinated Analysis

Author(s): Jason K. Longhurst, Andrew Hooyman, Merrill R. Landers, Martina Mancini, Erika Franzén, Breiffni Leavy, Hanna Johansson, Daniel S. Peterson

Journal Name: Neurorehabilitation and Neural Repair

Publisher: SAGE Publications

Vol: 39

Issue #: 2

Start Page:

End Page:

Publication Date: 2024-11-27

Open Access(OA) Status: RESTRICTED

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DOI - Digital Object Identifier: 10.1177/15459683241300456

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Citation Count: 1

Enhanced Parkin-mediated mitophagy mitigates adverse left ventricular remodelling after myocardial infarction: role of PR-364

2024

OPEN

Title: Enhanced Parkin-mediated mitophagy mitigates adverse left ventricular remodelling after myocardial infarction: role of PR-364

Author(s): Lizhuo Ai, Juliana de Freitas Germano, Chengqun Huang, Marianne Aniag, Savannah Sawaged, Jon Sin, Reetu Thakur, Deepika Rai, Christopher Rainville, David E. Sterner, Yang Song, Honit Piplani, Suresh Kumar, Tauseef R. Butt, Robert M. Mentzer, Aleksandr Stotland, Roberta A. Gottlieb, Jennifer E. Van Eyk

Journal Name: European Heart Journal

Publisher: Oxford University Press (OUP)

Vol: 46

Issue #: 4

Start Page:

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Publication Date: 2024-11-27

Open Access(OA) Status: OPEN

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DOI - Digital Object Identifier: 10.1093/eurheartj/ehae782

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Citation Count: 2

Incorporating label uncertainty during the training of convolutional neural networks improves performance for the discrimination between certain and inconclusive cases in dopamine transporter SPECT

2024

OPEN

Title: Incorporating label uncertainty during the training of convolutional neural networks improves performance for the discrimination between certain and inconclusive cases in dopamine transporter SPECT

Author(s): Aleksej Kucerenko, Thomas Buddenkotte, Ivayla Apostolova, Susanne Klutmann, Christian Ledig, Ralph Buchert

Journal Name: European Journal of Nuclear Medicine and Molecular Imaging

Publisher: Springer Science and Business Media LLC

Vol: 52

Issue #: 4

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Publication Date: 2024-11-27

Open Access(OA) Status: OPEN

License: cc-by

DOI - Digital Object Identifier: 10.1007/s00259-024-06988-0

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Citation Count: 0

Associations of motor and neuropsychiatric symptoms with comorbidities in prodromal Parkinson’s disease

2024

OPEN

Title: Associations of motor and neuropsychiatric symptoms with comorbidities in prodromal Parkinson’s disease

Author(s): Jia-Ru Chen, Yan Sun, Ya‐Hui Ma, Lan Tan

Journal Name: Frontiers in Aging Neuroscience

Publisher: Frontiers Media SA

Vol: 16

Issue #:

Start Page:

End Page:

Publication Date: 2024-11-25

Open Access(OA) Status: OPEN

License: cc-by

DOI - Digital Object Identifier: 10.3389/fnagi.2024.1452766

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Brain-derived and in vitro-seeded alpha-synuclein fibrils exhibit distinct biophysical profiles

2024

OPEN

Title: Brain-derived and in vitro-seeded alpha-synuclein fibrils exhibit distinct biophysical profiles

Author(s): Selene Seoyun Lee, Livia Civitelli, Laura Parkkinen

Journal Name: eLife

Publisher: eLife Sciences Publications, Ltd

Vol: 13

Issue #:

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Publication Date: 2024-11-25

Open Access(OA) Status: OPEN

License: cc-by

DOI - Digital Object Identifier: 10.7554/elife.92775.3

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The Parkinson’s disease risk gene cathepsin B promotes fibrillar alpha-synuclein clearance, lysosomal function and glucocerebrosidase activity in dopaminergic neurons

2024

RESTRICTED

Title: The Parkinson’s disease risk gene cathepsin B promotes fibrillar alpha-synuclein clearance, lysosomal function and glucocerebrosidase activity in dopaminergic neurons

Author(s): Jace Jones-Tabah, Kathy He, Nathan Karpilovsky, Konstantin Senkevich, Ghislaine Deyab, Isabella Pietrantonio, Thomas Goiran, Yuting Cousineau, Daria Nikanorova, Taylor Goldsmith, Esther del Cid‐Pellitero, Carol X.‐Q. Chen, Wen Luo, Zhipeng You, Narges Abdian, Jamil Ahmad, Jennifer A. Ruskey, Farnaz Asayesh, Dan Spiegelman, Stanley Fahn, Cheryl Waters, Oury Monchi, Yves Dauvilliers, Nicolas Dupré, Irina Miliukhina, Alla Timofeeva, Anton Emelyanov, Sofya Pchelina, Lior Greenbaum, Sharon Hassin‐Baer, Roy N. Alcalay, Austen J. Milnerwood, Thomas M. Durcan, Ziv Gan‐Or, Edward A. Fon

Journal Name: Molecular Neurodegeneration

Publisher: Springer Science and Business Media LLC

Vol: 19

Issue #: 1

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Publication Date: 2024-11-25

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DOI - Digital Object Identifier: 10.1186/s13024-024-00779-9

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Citation Count: 3

A multi-region single nucleus transcriptomic atlas of Parkinson’s disease

2024

OPEN

Title: A multi-region single nucleus transcriptomic atlas of Parkinson’s disease

Author(s): N. M. Prashant, John F. Fullard, Tereza Clarence, Deepika Mathur, Clara Casey, Evelyn Hennigan, Marcela Alvia, Joana Krause-Massaguer, Ayled Barreda, David A. Davis, Regina Vontell, Susanna P. Garamszegi, Jeffery M. Vance, Lorelle A. Sang, Michael Chatigny, David Vismer, Barry Landin, David E. Burstein, Donghoon Lee, Georgios Voloudakis, Sabina Berretta, Vahram Haroutunian, William K. Scott, Jaroslav Bendl, Panos Roussos

Journal Name: Scientific Data

Publisher: Springer Science and Business Media LLC

Vol: 11

Issue #: 1

Start Page:

End Page:

Publication Date: 2024-11-23

Open Access(OA) Status: OPEN

License: cc-by

DOI - Digital Object Identifier: 10.1038/s41597-024-04117-y

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Citation Count: 0

Benchmarking of a multi‐biomarker low‐volume panel for Alzheimer's disease and related dementia research

2024

OPEN

Title: Benchmarking of a multi‐biomarker low‐volume panel for Alzheimer's disease and related dementia research

Author(s): Laura Ibáñez, Menghan Liu, Aleksandra Beric, Jigyasha Timsina, Pat Kohlfeld, Kristy Bergmann, Joey Lowery, Nick Sykora, Brenda Sanchez‐Montejo, Will Brock, John Budde, Randall J. Bateman, Nicolas R. Barthélemy, Suzanne E. Schindler, David M. Holtzman, Tammie L.S. Benzinger, Chengjie Xiong, Rawan Tarawneh, Krista L. Moulder, John C. Morris, Yun Ju Sung, Carlos Cruchaga

Journal Name: Alzheimer's & Dementia

Publisher: Wiley

Vol: 21

Issue #: 2

Start Page:

End Page:

Publication Date: 2024-11-22

Open Access(OA) Status: OPEN

License: cc-by-nc-nd

DOI - Digital Object Identifier: 10.1002/alz.14413

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Citation Count: 3

A Highly-Efficient, Scalable Pipeline for Fixed Feature Extraction from Large-Scale High-Content Imaging Screens

2024

OPEN

Title: A Highly-Efficient, Scalable Pipeline for Fixed Feature Extraction from Large-Scale High-Content Imaging Screens

Author(s): Gabriel Comolet, N.K. Bose, Jeff Winchell, Alyssa Duren-Lubanski, Tom Rusielewicz, Jordan Goldberg, Grayson Horn, Daniel Paull, Bianca Migliori

Journal Name: iScience

Publisher: Elsevier BV

Vol: 27

Issue #: 12

Start Page: 111434

End Page: 111434

Publication Date: 2024-11-21

Open Access(OA) Status: OPEN

License: cc-by-nc

DOI - Digital Object Identifier: 10.1016/j.isci.2024.111434

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Exome sequencing in Asian populations identifies low-frequency and rare coding variation influencing Parkinson’s disease risk

2024

OPEN

Title: Exome sequencing in Asian populations identifies low-frequency and rare coding variation influencing Parkinson’s disease risk

Author(s): Elaine Guo Yan Chew, Zhehao Liu, Zheng Li, Sun Ju Chung, Michelle Mulan Lian, Moses Tandiono, Yue Jing Heng, Ebonne Ng, Louis C.S. Tan, Wee Ling Chng, Tiak Ju Tan, Esther KL Peh, Ying Swan Ho, Xiao Yin Chen, Erin YT Lim, Chu Hua Chang, Jonavan J. Leong, Ting Xuan Peh, Ling Ling Chan, Yinxia Chao, Wing‐Lok Au, Kumar M. Prakash, Jia Lun Lim, Yi Wen Tay, Vincent Mok, Anne Chan, Juei‐Jueng Lin, Beom S. Jeon, Kyuyoung Song, Clement C. Tham, Chi Pui Pang, Jeeyun Ahn, Kyu Hyung Park, Janey L. Wiggs, Tin Aung, Ai Huey Tan, Azlina Ahmad Annuar, Mary B. Makarious, Cornelis Blauwendraat, M. A. Nalls, Laurie Robak, Roy N. Alcalay, Ziv Gan-Or, Richard Reynolds, Shen‐Yang Lim, Yun Xia, Chiea Chuen Khor, Eng‐King Tan, Zhenxun Wang, Jia Nee Foo

Journal Name: Nature Aging

Publisher: Springer Science and Business Media LLC

Vol: 5

Issue #: 2

Start Page:

End Page:

Publication Date: 2024-11-21

Open Access(OA) Status: OPEN

License: cc-by-nc-nd

DOI - Digital Object Identifier: 10.1038/s43587-024-00760-7

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Citation Count: 3

Genome Aggregation Database Version 4—Allele Frequency Changes and Impact on Variant Interpretation in Dystonia

2024

OPEN

Title: Genome Aggregation Database Version 4—Allele Frequency Changes and Impact on Variant Interpretation in Dystonia

Author(s): Elisabetta Indelicato, Anja Eberl, Sylvia Boesch, Lara M. Lange, Christine Klein, Katja Lohmann, Michael Zech

Journal Name: Movement Disorders

Publisher: Wiley

Vol: 40

Issue #: 2

Start Page:

End Page:

Publication Date: 2024-11-21

Open Access(OA) Status: OPEN

License: cc-by-nc-nd

DOI - Digital Object Identifier: 10.1002/mds.30066

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Longitudinal decline in DAT binding in Parkinson’s disease: connections with sleep disturbances

2024

OPEN

Title: Longitudinal decline in DAT binding in Parkinson’s disease: connections with sleep disturbances

Author(s): Junli Ren, Haobo Xie, Yiyun Weng, Yaoying Ge, Ruotong Yao, Zihan Jiang, Jinxiu Zhang, Yusheng Zhu, Xiaotong Fu, Junchao Wang, Zijia Liu, Shishu Zhang, Tingxuan Zhang, Guangyong Chen, Dehao Yang

Journal Name: BMC Medicine

Publisher: Springer Science and Business Media LLC

Vol: 22

Issue #: 1

Start Page:

End Page:

Publication Date: 2024-11-21

Open Access(OA) Status: OPEN

License: cc-by-nc-nd

DOI - Digital Object Identifier: 10.1186/s12916-024-03766-5

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High‐molecular‐weight oligomer tau (HMWoTau) species are dramatically increased in Braak‐stage dependent manner in the frontal lobe of human brains, demonstrated by a novel oligomer Tau ELISA with a mouse monoclonal antibody (APNmAb005)

2024

OPEN

Title: High‐molecular‐weight oligomer tau (HMWoTau) species are dramatically increased in Braak‐stage dependent manner in the frontal lobe of human brains, demonstrated by a novel oligomer Tau ELISA with a mouse monoclonal antibody (APNmAb005)

Author(s): Hiroaki Fukumoto, Tzu‐Huei Kao, Chin‐Yin Tai, Ming‐Kuei Jang, Masaomi Miyamoto

Journal Name: The FASEB Journal

Publisher: Wiley

Vol: 38

Issue #: 22

Start Page:

End Page:

Publication Date: 2024-11-20

Open Access(OA) Status: OPEN

License: cc-by

DOI - Digital Object Identifier: 10.1096/fj.202401704r

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Reduced striatal M4-cholinergic signaling following dopamine loss contributes to parkinsonian and l -DOPA–induced dyskinetic behaviors

2024

RESTRICTED

Title: Reduced striatal M4-cholinergic signaling following dopamine loss contributes to parkinsonian and l -DOPA–induced dyskinetic behaviors

Author(s): Beatriz E Nielsen, Christopher Ford

Journal Name: Science Advances

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

Vol: 10

Issue #: 47

Start Page:

End Page:

Publication Date: 2024-11-20

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DOI - Digital Object Identifier: 10.1126/sciadv.adp6301

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Citation Count: 1

Dopaminergic PET to SPECT domain adaptation: a cycle GAN translation approach

2024

OPEN

Title: Dopaminergic PET to SPECT domain adaptation: a cycle GAN translation approach

Author(s): Leonor Lopes, Fangyang Jiao, Song Xue, Thomas Pyka, Korbinian Krieger, Jingjie Ge, Qian Xu, Rachid Fahmi, Bruce Spottiswoode, Ahmed A. Soliman, Ralph Buchert, Matthias Brendel, Jimin Hong, Yihui Guan, Claudio L. Bassetti, Axel Rominger, Chuantao Zuo, Kuangyu Shi, Ping Wu

Journal Name: European Journal of Nuclear Medicine and Molecular Imaging

Publisher: Springer Science and Business Media LLC

Vol: 52

Issue #: 3

Start Page:

End Page:

Publication Date: 2024-11-19

Open Access(OA) Status: OPEN

License: cc-by

DOI - Digital Object Identifier: 10.1007/s00259-024-06961-x

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Citation Count: 2

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