MJFF Publications

The LRRK2 p.L1795F variant causes Parkinson’s disease in the European population

2025

OPEN

Title: The LRRK2 p.L1795F variant causes Parkinson’s disease in the European population

Author(s): Lara M. Lange, Kristin Levine, Susan H. Fox, Connie Marras, Nazish Rafique, Nicole Kuznetsov, Dan Vitale, Hirotaka Iwaki, Katja Lohmann, Luca Marsili, Alberto J. Espay, Peter Bauer, Christian Beetz, Jessica Martin, Stewart A. Factor, Lenora A. Higginbotham, Honglei Chen, Hampton L. Leonard, M. A. Nalls, Niccoló E. Mencacci, Huw R. Morris, Andrew Singleton, Christine Klein, Cornelis Blauwendraat, Zih‐Hua Fang, Emilia Gatto, Marcelo Kauffman, Samson Khachatryan, Zaruhi Tavadyan, Claire E. Shepherd, Julie Hunter, Kishore R. Kumar, Melina Ellis, Miguel E. Rentería, Sulev Kõks, Alexander Zimprich, Artur Francisco Schumacher Schuh, Carlos Roberto de Mello Rieder, Paula Saffie Awad, Vítor Tumas, Sarah Camargos, Edward A. Fon, Oury Monchi, Ted Fon, Benjamin Pizarro Galleguillos, Patricio Olguı́n, Marcelo Miranda, M. Leonor Bustamante, Pedro Chaná, Beisha Tang, Huifang Shang, Jifeng Guo, Piu Chan, Wei Luo, Gonzálo Arboleda, Jorge Orozco, Marlene Jiménez-Del-Río, Álvaro Hernández-Flores, Mohamed Salama, Walaa A. Kamel, Yared Z. Zewde, Alexis Brice, Jean‐Christophe Corvol, Ana Westenberger, Eva‐Juliane Vollstedt, Harutyun Madoev, Joanne Trinh, Johanna Junker, Anastasia Illarionova, Brit Mollenhauer, Franziska Hopfner, Günter U. Höglinger, Manu Sharma, Thomas Gasser, Sergiu Groppa, Albert Akpalu, Georgia Xiromerisiou, Georgios Hadjigorgiou, Efthymios Dadiotis, Ioannis E. Dagklis, Ioannis Tarnanas, Leonidas Stefanis, María Stamelou, Alex Medina, Germaine Hiu-Fai Chan, Nelson Yuk-Fai Cheung, Nancy Y. Ip, Phillip Chan, Xiaopu Zhou, Asha Kishore, Divya KP, Pramod Kr. Pal, Prashanth Lingappa Kukkle, Roopa Rajan, Rupam Borgohain, Mehri Salari, Andrea Quattrone, Monica Gagliardi, Enza Maria Valente, Micol Avenali, Grazia Annesi, Lucilla Parnetti, Tommaso Schirinzi, Manabu Funayama, Nobutaka Hattori, Tomotaka Shiraishi, Altynay Karimova, Gulnaz Kaishibayeva, Cholpon Shambetova, Rejko Krüger, Ai Huey Tan, Azlina Ahmad‐Annuar, Shen‐Yang Lim, Yi Wen Tay, Norlinah Mohamed Ibrahim, Nor Azian Abdul Murad, Shahrul Azmin, Wael Mohamed, Daniel Martinez‐Ramirez, Mayela Rodríguez‐Violante, Paula Reyes‐Pérez, Bayasgalan Tserensodnom, Rajeev Ojha, Tim Anderson, Toni L. Pitcher, Arinola Sanyaolu, Njideka Okubadejo, Oluwadamilola O. Ojo, Jan Aasly, Lasse Pihlstrøm, Manuela Tan, Shoaib Ur-Rehman, Mario Cornejo‐Olivas, Maria Leila M. Doquenia, Raymond L. Rosales, Ángel Viñuela, Е. А. Яковенко, Bashayer Al Mubarak, Muhammad Umair, Eng‐King Tan, Jia Nee Foo, Ferzana Amod, Jonathan Carr, Soraya Bardien, Beomseok Jeon, Yun Joong Kim, Esther Cubo, Ignacio Álvarez, Janet Hoenicka, Katrin Beyer, María Teresa Periñán, Pau Pástor, Sarah El-Sadig, Kajsa Brolin, Christiane Zweier, Paul Krack, Gerd Tinkhauser, Chin‐Hsien Lin, Pin-Jui Kung, Hsiu-Chuan Wu, Ruey‐Meei Wu, Yih‐Ru Wu, Rim Amouri, Samia Ben Sassi, A. Nazlı Başak, Özgür Öztop Çakmak, Sibel Ertan, Gençer Genç, Alastair Noyce, Sumit Dey, Alejandro Martínez-Carrasco, Anette Schrag, Anthony H.V. Schapira, Eleanor J. Stafford, Henry Houlden, John Hardy, Kin Y. Mok, Mie Rizig, Nicholas Wood, Olaitan Okunoye, Rauan Kaiyrzhanov, Rimona S. Weil, Simona Jasaityte, Vida Obese, Camille Carroll, Claire Bale, Donald G. Grosset, Nigel Williams, Patrick A. Lewis, Seth Love, Simon Stott, Caroline B. Pantazis, Katherine M. Andersh, Laurel Screven, Sara Bandrés‐Ciga, Ignacio Juan Keller Sarmiento, Alyssa O’Grady, Bernadette Siddiqi, Bradford Casey, Brian Fiske, Charisse Comart, Justin Solle, Kaileigh Murphy, Maggie Kuhl, Naomi Louie, Sohini Chowdhury, Todd Sherer, Andrew K. Sobering, Cabell Jonas, Carlos Cruchaga, Laura Ibáñez, Claire Wegel, Tatiana Foroud, Deborah A. Hall, Dena G. Hernandez, Jonggeol Jeff Kim, Yeajin Song, Ejaz Shiamim, Ekemini Riley, Geidy E. Serrano, Ignácio F. Mata, Miguel Inca‐Martinez, Jared Williamson, Joseph Jankovic, Joshua Shulman, Kamalini Ghosh Galvelis, Karen Nuytemans, Karl Kieburtz, Katerina Markopoulou, Kenneth Marek, Lana M. Chahine, Lauren Ruffrage, Lisa Shulman, Marissa Dean, Matthew J. Farrer, Megan J. Puckelwartz, Steven Lubbe, Roger L. Albin, Roy N. Alcalay, Ruth Walker, Sonya B. Dumanis, Tao Xie, Thomas Beach, Faraz Faghri, Mary B. Makarious, Mathew J. Koretsky, Duan Nguyen, Toan Nguyen, Masharip Atadzhanov

Journal Name: npj Parkinson's Disease

Publisher: Springer Science and Business Media LLC

Vol: 11

Issue #: 1

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Publication Date: 2025-03-25

Open Access(OA) Status: OPEN

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DOI - Digital Object Identifier: 10.1038/s41531-025-00896-2

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Spatial genomics of AAV vectors reveals mechanism of transcriptional crosstalk that enables targeted delivery of large genetic cargo

2025

OPEN

Title: Spatial genomics of AAV vectors reveals mechanism of transcriptional crosstalk that enables targeted delivery of large genetic cargo

Author(s): Gerard Michael Coughlin, Máté Borsos, Bre’Anna H. Barcelona, Nathan Appling, Acacia M Hori, Elisha D.W. Mackey, Rana Eser, Cameron Jackson, Xinhong Chen, Sripriya Ravindra Kumar, Viviana Gradinaru

Journal Name: Nature Biotechnology

Publisher: Springer Science and Business Media LLC

Vol:

Issue #:

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Publication Date: 2025-03-20

Open Access(OA) Status: OPEN

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DOI - Digital Object Identifier: 10.1038/s41587-025-02565-4

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The Exon-Based Transcriptomic Analysis of Parkinson’s Disease

2025

OPEN

Title: The Exon-Based Transcriptomic Analysis of Parkinson’s Disease

Author(s): Sulev Kõks

Journal Name: Biomolecules

Publisher: MDPI AG

Vol: 15

Issue #: 3

Start Page: 440

End Page: 440

Publication Date: 2025-03-19

Open Access(OA) Status: OPEN

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DOI - Digital Object Identifier: 10.3390/biom15030440

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PseudoSorter: A self-supervised spike sorting approach applied to reveal Tau-induced reductions in neuronal activity

2025

OPEN

Title: PseudoSorter: A self-supervised spike sorting approach applied to reveal Tau-induced reductions in neuronal activity

Author(s): Marius Brockhoff, Jakob Träuble, Sagnik Middya, Tanja Fuchsberger, Ana Fernández‐Villegas, Amberley D. Stephens, Miranda Robbins, Wenyue Dai, Belquis Haider, Sulay Vora, Nino F. Läubli, Clemens F. Kaminski, George G. Malliaras, Ole Paulsen, Gabriele S. Kaminski Schierle

Journal Name: Science Advances

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

Vol: 11

Issue #: 11

Start Page:

End Page:

Publication Date: 2025-03-14

Open Access(OA) Status: OPEN

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DOI - Digital Object Identifier: 10.1126/sciadv.adr4155

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Radiosynthesis, In Vitro Characterization, and In Vivo PET Neuroimaging of [18F]F-4 for Tau Protein: A First-in-Human PET Study

2025

OPEN

Title: Radiosynthesis, In Vitro Characterization, and In Vivo PET Neuroimaging of [18F]F-4 for Tau Protein: A First-in-Human PET Study

Author(s): Anton Lindberg, Junchao Tong, Chao Zheng, André Mueller, Heiko Kroth, Andrew Stephens, Chester A. Mathis, Neil Vasdev

Journal Name: ACS Chemical Neuroscience

Publisher: American Chemical Society (ACS)

Vol: 16

Issue #: 6

Start Page:

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Publication Date: 2025-03-10

Open Access(OA) Status: OPEN

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DOI - Digital Object Identifier: 10.1021/acschemneuro.4c00866

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LRRK2-associated parkinsonism with and without in vivo evidence of alpha-synuclein aggregates: longitudinal clinical and biomarker characterization

2025

OPEN

Title: LRRK2-associated parkinsonism with and without in vivo evidence of alpha-synuclein aggregates: longitudinal clinical and biomarker characterization

Author(s): Lana M. Chahine, David-Erick Lafontant, Seung Ho Choi, Hirotaka Iwaki, Cornelis Blauwendraat, Andrew Singleton, Michael C. Brumm, Roy N. Alcalay, Kalpana Merchant, Kelly Nudelman, Alain Dagher, Andrew Vo, Tao Qin, Charles S. Venuto, Karl Kieburtz, Kathleen L. Poston, Susan Bressman, Paulina González-Latapí, Brian Avants, Christopher S. Coffey, Danna Jennings, Eduardo Tolosa, Andrew Siderowf, Kenneth Marek, Tatyana Simuni, Kenneth Marek, Caroline M. Tanner, Tanya Simuni, Andrew Siderowf, Douglas Galasko, Lana M. Chahine, Christopher S. Coffey, Kalpana Merchant, Kathleen L. Poston, Roseanne D. Dobkin, Tatiana M. Foroud, Brit Mollenhauer, Dan Weintraub, Ethan G. Brown, Karl Kieburtz, Mark Frasier, Todd Sherer, Sohini Chowdhury, Roy N. Alcalay, Aleksandar Videnović, Duygu Tosun, Werner Poewe, Susan Bressman, Jan Hammer, Raymond James, Ekemini Riley, John Seibyl, Yi‐Ju Li, David G. Standaert, Sneha Mantri, Nabila Dahodwala, Michael A. Schwarzschild, Connie Marras, Hubert Fernandez, Ira Shoulson, Helen M. Rowbotham, Paola Casalin, Claudia Trenkwalder, Jamie L. Eberling, Katie Kopil, A. O'Grady, Maggie Kuhl, L. Kirsch, Tracy A. Willson, Emily Flagg, Bridget McMahon, Craig Stanley, Kim Fabrizio, Dixie Ecklund, Trevis Huff, Laura Heathers, Christopher Hobbick, Gena Antonopoulos, Chelsea Caspell‐Garcia, Michael C. Brumm, Arthur W. Toga, Karen Crawford, John E. Hamer, Doug Galasko, Andrew Singleton, Thomas J. Montine, Roseanne D. Dobkin, Monica Korell, Charles Adler, Amy W. Amara, Paolo Barone, Bastiaan R. Bloem, Kathrin Brockmann, Norbert Brüggemann, Kelvin L. Chou, Alberto J. Espay, Stewart A. Factor, Michelle Fullard, Robert Hauser, Penelope Hogarth, Shu-Ching Hu, Joshua Shulman, Stuart Isaacson, Christine Klein, Rejko Krueger, Mark Lew, Zoltan Mari, Maria José Martí, Nikolaus R. McFarland, Tiago Mestre, Emile Moukheiber, Alastair J. Noyce, Wolfgang H. Oertel, Njideka Okubadejo, Sarah A. O’Shea, Rajesh Pahwa, Nicola Pavese, Ron Postuma, Giulietta Riboldi, Lauren Ruffrage, Javier Ruiz‐Martínez, David A. Russell, Marie Saint‐Hilaire, Nancy Dos Santos, Wesley Schlett, Ruth B. Schneider, Holly Shill, David Shprecher, Leonidas Stefanis, Yen Tai, Arjun Tarakad, Eduardo Tolosa

Journal Name: Brain Communications

Publisher: Oxford University Press (OUP)

Vol: 7

Issue #: 2

Start Page:

End Page:

Publication Date: 2025-03-06

Open Access(OA) Status: OPEN

License: cc-by

DOI - Digital Object Identifier: 10.1093/braincomms/fcaf103

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Parkinson-like wild-type superoxide dismutase 1 pathology induces nigral dopamine neuron degeneration in a novel murine model

2025

OPEN

Title: Parkinson-like wild-type superoxide dismutase 1 pathology induces nigral dopamine neuron degeneration in a novel murine model

Author(s): Amr H. Abdeen, Benjamin G. Trist, Sara Nikseresht, R. J. Harwood, Stéphane Roudeau, Benjamin D. Rowlands, Fabian Kreilaus, Veronica Cottam, David Mor, Miriam Richardson, Julio C. Siciliano, Julia Forkgen, Greta Schaffer, Sian Genoud, Anne A. Li, Nicholas Proschogo, Bernadeth Antonio, Gerald Falkenberg, Dennis Brueckner, Kai Kysenius, Jeffrey R. Liddell, Sandrine Chan Moi Fat, Sharlynn Wu, Jennifer A. Fifita, Thomas E. Lockwood, David Bishop, Ian P. Blair, Richard Ortega, Peter J. Crouch, Kay L. Double

Journal Name: Acta Neuropathologica

Publisher: Springer Science and Business Media LLC

Vol: 149

Issue #: 1

Start Page:

End Page:

Publication Date: 2025-03-05

Open Access(OA) Status: OPEN

License: cc-by

DOI - Digital Object Identifier: 10.1007/s00401-025-02859-6

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Male sex accelerates cognitive decline in GBA1 Parkinson’s disease

2025

OPEN

Title: Male sex accelerates cognitive decline in GBA1 Parkinson’s disease

Author(s): Stephanie Caminiti, Micol Avenali, Alice Galli, Rachele Malito, Giada Cuconato, Caterina Galandra, Rosaria Calabrese, Andrea Pilotto, Alessandro Padovani, Fabio Blandini, Daniela Perani, Cristina Tassorelli, Enza Maria Valente

Journal Name: npj Parkinson's Disease

Publisher: Springer Science and Business Media LLC

Vol: 11

Issue #: 1

Start Page:

End Page:

Publication Date: 2025-03-04

Open Access(OA) Status: OPEN

License: cc-by-nc-nd

DOI - Digital Object Identifier: 10.1038/s41531-025-00883-7

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Contribution of brain pericytes to neuroinflammation following repetitive head trauma

2025

OPEN

Title: Contribution of brain pericytes to neuroinflammation following repetitive head trauma

Author(s): Arianna Cembran, Maxwell Eisenbaum, Daniel Paris, Michael Mullan, Fiona Crawford, Scott Ferguson, Corbin Bachmeier

Journal Name: Journal of Inflammation

Publisher: Springer Science and Business Media LLC

Vol: 22

Issue #: 1

Start Page:

End Page:

Publication Date: 2025-03-03

Open Access(OA) Status: OPEN

License: cc-by-nc-nd

DOI - Digital Object Identifier: 10.1186/s12950-025-00439-9

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Epigenetic insights into neuropsychiatric and cognitive symptoms in Parkinson’s disease: A DNA co-methylation network analysis

2025

OPEN

Title: Epigenetic insights into neuropsychiatric and cognitive symptoms in Parkinson’s disease: A DNA co-methylation network analysis

Author(s): Joshua Harvey, Adam R. Smith, Luke Stephen Weymouth, Rebecca G. Smith, Isabel Castanho, Leon Hubbard, Byron Creese, Catherine Bresner, Nigel Williams, Ehsan Pishva, Katie Lunnon

Journal Name: npj Parkinson's Disease

Publisher: Springer Science and Business Media LLC

Vol: 11

Issue #: 1

Start Page:

End Page:

Publication Date: 2025-03-02

Open Access(OA) Status: OPEN

License: cc-by

DOI - Digital Object Identifier: 10.1038/s41531-025-00877-5

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History of Traumatic Brain Injury Does Not Influence Rate of Progression of Clinical or Pathological Outcomes in Two Early Parkinson's Disease Cohorts

2025

OPEN

Title: History of Traumatic Brain Injury Does Not Influence Rate of Progression of Clinical or Pathological Outcomes in Two Early Parkinson's Disease Cohorts

Author(s): Angus McNamara, Irina Baetu, Lyndsey E. Collins‐Praino

Journal Name: European Journal of Neurology

Publisher: Wiley

Vol: 32

Issue #: 3

Start Page:

End Page:

Publication Date: 2025-03-01

Open Access(OA) Status: OPEN

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DOI - Digital Object Identifier: 10.1111/ene.70090

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Microstructural Changes in Substantia Nigra Subfields Relate to Depression and Olfactory Impairments in Parkinson’s Disease Continuum; Insights from Diffusion Tensor Imaging

2025

RESTRICTED

Title: Microstructural Changes in Substantia Nigra Subfields Relate to Depression and Olfactory Impairments in Parkinson’s Disease Continuum; Insights from Diffusion Tensor Imaging

Author(s): Mehrdad Mozafar, Zobeydeh Dehghan Manshadi, Zohreh Molaei, Homayoon Babaei, Mohammad D. Mansouri, Sahba Shahbazi, Shayan Shakeri, Hanieh Mirhosseini, David Gulisashvili, Mahsa Mayeli

Journal Name: Clinical Neurology and Neurosurgery

Publisher: Elsevier BV

Vol: 251

Issue #:

Start Page: 108817

End Page: 108817

Publication Date: 2025-03-01

Open Access(OA) Status: RESTRICTED

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DOI - Digital Object Identifier: 10.1016/j.clineuro.2025.108817

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A long-lived pool of PINK1 imparts a molecular memory of depolarization-induced activity

2025

OPEN

Title: A long-lived pool of PINK1 imparts a molecular memory of depolarization-induced activity

Author(s): Liam Pollock, Ioanna Ch. Georgiou, Emma V. Rusilowicz-Jones, Michael J. Clague, Sylvie Urbé

Journal Name: Science Advances

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

Vol: 11

Issue #: 9

Start Page:

End Page:

Publication Date: 2025-02-28

Open Access(OA) Status: OPEN

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DOI - Digital Object Identifier: 10.1126/sciadv.adr1938

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Benchmarking macaque brain gene expression for horizontal and vertical translation

2025

OPEN

Title: Benchmarking macaque brain gene expression for horizontal and vertical translation

Author(s): Andrea I. Luppi, Zhen-Qi Liu, Justine Y. Hansen, Rodrigo Cofré, Meiqi Niu, Elena Kuzmin, Seán Froudist‐Walsh, Nicola Palomero‐Gallagher, Bratislav Mišić

Journal Name: Science Advances

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

Vol: 11

Issue #: 9

Start Page:

End Page:

Publication Date: 2025-02-28

Open Access(OA) Status: OPEN

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DOI - Digital Object Identifier: 10.1126/sciadv.ads6967

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Quantifying arm swing in Parkinson’s disease: a method accounting for arm activities during free-living gait

2025

OPEN

Title: Quantifying arm swing in Parkinson’s disease: a method accounting for arm activities during free-living gait

Author(s): Erik Post, Twan van Laarhoven, Yordan P. Raykov, Max A. Little, Jorik Nonnekes, Tom Heskes, Bastiaan R. Bloem, Luc J. W. Evers

Journal Name: Journal of NeuroEngineering and Rehabilitation

Publisher: Springer Science and Business Media LLC

Vol: 22

Issue #: 1

Start Page:

End Page:

Publication Date: 2025-02-26

Open Access(OA) Status: OPEN

License: cc-by

DOI - Digital Object Identifier: 10.1186/s12984-025-01578-z

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A framework to standardize gait study protocols in Parkinson's disease

2025

OPEN

Title: A framework to standardize gait study protocols in Parkinson's disease

Author(s): Martina Mancini, Jeffrey M. Hausdorff, Elisa Pelosin, Paolo Bonato, Richard Camicioli, Terry D. Ellis, Jochen Klucken, Larry Gifford, Alfonso Fasano, Alice Nieuwboer, Catherine Kopil, Katharina Klapper, L. Kirsch, David T. Dexter, Rosie Fuest, Vonda H. Miller, Angelica Asis, Martijn L.T.M. Müller, Diane Stephenson, Anat Mirelman

Journal Name: Journal of Parkinson’s Disease

Publisher: SAGE Publications

Vol:

Issue #:

Start Page:

End Page:

Publication Date: 2025-02-25

Open Access(OA) Status: OPEN

License: cc-by-nc

DOI - Digital Object Identifier: 10.1177/1877718x241305626

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A single-cell atlas to map sex-specific gene-expression changes in blood upon neurodegeneration

2025

OPEN

Title: A single-cell atlas to map sex-specific gene-expression changes in blood upon neurodegeneration

Author(s): Friederike Grandke, Tobias Fehlmann, Fabian Kern, David Gate, Tobias William Wolff, Olivia Leventhal, Divya Channappa, Pascal Hirsch, Edward N. Wilson, Eckart Meese, Chuanyu Liu, Quan Shi, Matthias Flotho, Yongping Li, Cynthia Chen, Yeya Yu, Jiangshan Xu, Michael Junkin, Zhifeng Wang, Tao Wu, Longqi Liu, Yong Hou, Katrin I. Andreasson, Jennifer Gansen, Elvira Mass, Kathleen L. Poston, Tony Wyss‐Coray, Andreas Keller

Journal Name: Nature Communications

Publisher: Springer Science and Business Media LLC

Vol: 16

Issue #: 1

Start Page:

End Page:

Publication Date: 2025-02-25

Open Access(OA) Status: OPEN

License: cc-by

DOI - Digital Object Identifier: 10.1038/s41467-025-56833-7

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RGS10 attenuates systemic immune dysregulation induced by chronic inflammatory stress

2025

OPEN

Title: RGS10 attenuates systemic immune dysregulation induced by chronic inflammatory stress

Author(s): Janna Jernigan, Hannah A. Staley, Zachary Baty, MacKenzie L. Bolen, Beatriz Maffini Gomes, Jenny Holt, Cassandra L. Cole, Noelle Neighbarger, Kruthika Dheeravath, Andrea R. Merchak, Kelly B. Menees, Stephen A. Coombes, Malú G. Tansey

Journal Name: Journal of Neuroinflammation

Publisher: Springer Science and Business Media LLC

Vol: 22

Issue #: 1

Start Page:

End Page:

Publication Date: 2025-02-24

Open Access(OA) Status: OPEN

License: cc-by

DOI - Digital Object Identifier: 10.1186/s12974-024-03322-1

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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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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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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

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

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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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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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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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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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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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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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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

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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

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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

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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

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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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Mitofusin 2 displays fusion-independent roles in proteostasis surveillance

2025

OPEN

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

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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

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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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Alpha synuclein overexpression can drive microbiome dysbiosis in mice

2025

OPEN

Title: Alpha synuclein overexpression can drive microbiome dysbiosis in mice

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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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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

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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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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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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 Lléo, 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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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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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

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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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Splicing accuracy varies across human introns, tissues, age and disease

2025

OPEN

Title: Splicing accuracy varies across human introns, tissues, age and disease

Author(s): Sonia García-Ruíz, David Zhang, Emil K. Gustavsson, G Rocamora-Perez, Melissa Grant‐Peters, Aine Fairbrother-Browne, Regina H. Reynolds, Jonathan Brenton, Ana Luisa Gil-Martínez, Zhongbo Chen, Donald C. Rio, Juan A. Botía, Sebastian Guelfi, Leonardo Collado‐Torres, Mina Ryten

Journal Name: Nature Communications

Publisher: Springer Science and Business Media LLC

Vol: 16

Issue #: 1

Start Page:

End Page:

Publication Date: 2025-01-27

Open Access(OA) Status: OPEN

License: cc-by

DOI - Digital Object Identifier: 10.1038/s41467-024-55607-x

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Transcriptomics profiling of Parkinson’s disease progression subtypes reveals distinctive patterns of gene expression

2025

OPEN

Title: Transcriptomics profiling of Parkinson’s disease progression subtypes reveals distinctive patterns of gene expression

Author(s): Carlo Fabrizio, Andrea Termine, Carlo Caltagirone

Journal Name: Journal of Central Nervous System Disease

Publisher: SAGE Publications

Vol: 17

Issue #:

Start Page:

End Page:

Publication Date: 2025-01-27

Open Access(OA) Status: OPEN

License: cc-by-nc

DOI - Digital Object Identifier: 10.1177/11795735241286821

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Baseline liver fibrosis-4 score correlates to the progression of anxiety and cognitive impairment in patients with Parkinson’s disease

2025

OPEN

Title: Baseline liver fibrosis-4 score correlates to the progression of anxiety and cognitive impairment in patients with Parkinson’s disease

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Journal Name: Frontiers in Aging Neuroscience

Publisher: Frontiers Media SA

Vol: 17

Issue #:

Start Page:

End Page:

Publication Date: 2025-01-24

Open Access(OA) Status: OPEN

License: cc-by

DOI - Digital Object Identifier: 10.3389/fnagi.2025.1501319

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Global cellular proteo-lipidomic profiling of diverse lysosomal storage disease mutants using nMOST

2025

OPEN

Title: Global cellular proteo-lipidomic profiling of diverse lysosomal storage disease mutants using nMOST

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Journal Name: Science Advances

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

Vol: 11

Issue #: 4

Start Page:

End Page:

Publication Date: 2025-01-22

Open Access(OA) Status: OPEN

License:

DOI - Digital Object Identifier: 10.1126/sciadv.adu5787

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Distinct subcellular localization of tau and alpha-synuclein in lewy body disease

2025

OPEN

Title: Distinct subcellular localization of tau and alpha-synuclein in lewy body disease

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Journal Name: Acta Neuropathologica Communications

Publisher: Springer Science and Business Media LLC

Vol: 13

Issue #: 1

Start Page:

End Page:

Publication Date: 2025-01-21

Open Access(OA) Status: OPEN

License: cc-by-nc-nd

DOI - Digital Object Identifier: 10.1186/s40478-024-01913-w

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Local regulation of striatal dopamine release shifts from predominantly cholinergic in mice to GABAergic in macaques

2025

RESTRICTED

Title: Local regulation of striatal dopamine release shifts from predominantly cholinergic in mice to GABAergic in macaques

Author(s): Jung Hoon Shin, Hannah C Goldbach, Dennis A. Burke, Michael E. Authement, Evan S Swanson, Miriam E. Bocarsly, Sofia Hernandez, Han Bin Kwon, Sydney E. Cerveny, Jacqueline B. Mehr, Anya Plotnikova, Arya Mohanty, Alexander Cummins, Kenneth A. Pelkey, Chris J. McBain, Zayd M. Khaliq, Mark A. G. Eldridge, Bruno B. Averbeck, Veronica A. Alvarez

Journal Name: The Journal of Neuroscience

Publisher: Society for Neuroscience

Vol: 45

Issue #: 11

Start Page: e1692242025

End Page: e1692242025

Publication Date: 2025-01-21

Open Access(OA) Status: RESTRICTED

License: cc-by-nc-sa

DOI - Digital Object Identifier: 10.1523/jneurosci.1692-24.2025

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Iron deposition is associated with motor and non-motor network breakdown in parkinsonism

2025

OPEN

Title: Iron deposition is associated with motor and non-motor network breakdown in parkinsonism

Author(s): Fangda Leng, Yue Gao, Fan Li, Luhua Wei, Yunchuang Sun, Fang Liu, Ying Zhu, Jianxing Qiu, Zhaoxia Wang, Yiwei Zhang

Journal Name: Frontiers in Aging Neuroscience

Publisher: Frontiers Media SA

Vol: 16

Issue #:

Start Page:

End Page:

Publication Date: 2025-01-20

Open Access(OA) Status: OPEN

License: cc-by

DOI - Digital Object Identifier: 10.3389/fnagi.2024.1518155

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