MJFF Publications

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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

Start Page:

End Page:

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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Citation Count: 0
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 #:

Start Page:

End Page:

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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Citation Count: 0
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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Citation Count: 0
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

License:

DOI - Digital Object Identifier: 10.1126/sciadv.adr4155

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Citation Count: 0
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:

End Page:

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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Citation Count: 0
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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Citation Count: 0
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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Citation Count: 0
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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Citation Count: 0
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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Citation Count: 0
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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Citation Count: 0

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