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MJFF Publications

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131 - 140 of 5662 Results
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Year
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  • Systematic rare variant analyses identify RAB32 as a susceptibility gene for familial Parkinson’s disease
    2024
    OPEN
    Title: Systematic rare variant analyses identify RAB32 as a susceptibility gene for familial Parkinson’s disease
    Author(s): Paul J. Hop, Dongbing Lai, Pamela Keagle, Desiree M. Baron, Brendan J. Kenna, Maarten Kooyman, N.A. Shankaracharya, Cheryl Halter, Letizia Straniero, Rosanna Asselta, Salvatore Bonvegna, Alexandra I. Soto‐Beasley, Zbigniew K. Wszołek, Ryan J. Uitti, Ioannis U. Isaias, Gianni Pezzoli, Nicola Ticozzi, Owen A. Ross, Jan H. Veldink, Tatiana Foroud, Kevin P. Kenna, John E. Landers
    Journal Name: Nature Genetics
    Publisher: Springer Science and Business Media LLC
    Vol: 56
    Issue #: 7
    Start Page: 1371
    End Page: 1376
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by
    DOI - Digital Object Identifier: 10.1038/s41588-024-01787-7
    Best OA location URL: https://doi.org/10.1038/s41588-024-01787-7
    Citation Count: 5
  • Genome-wide determinants of mortality and motor progression in Parkinson’s disease
    2024
    OPEN
    Title: Genome-wide determinants of mortality and motor progression in Parkinson’s disease
    Author(s): Manuela Tan, Michael Lawton, Miriam I. Pollard, Emmeline Brown, Raquel Real, Alejandro Martínez-Carrasco, Fanny Artaud, Edwin Jabbari, Regina H. Reynolds, Hirotaka Iwaki, Cornelis Blauwendraat, Sofia Kanavou, Leon Hubbard, Naveed Malek, Katherine A. Grosset, Nin Bajaj, Roger A. Barker, David J. Burn, Catherine Bresner, Thomas Foltynie, Nicholas Wood, Caroline H. Williams‐Gray, Ole A. Andreassen, Mathias Toft, Alexis Elbaz, Fanny Artaud, Alexis Brice, Jean‐Christophe Corvol, Jan Aasly, Matthew J. Farrer, Mike A. Nalls, Andrew Singleton, Nigel Williams, Yoav Ben‐Shlomo, John Hardy, Michele Hu, Donald G. Grosset, Maryam Shoai, Lasse Pihlstrøm, Huw R. Morris
    Journal Name: npj Parkinson's Disease
    Publisher: Springer Science and Business Media LLC
    Vol: 10
    Issue #: 1
    Start Page:
    End Page:
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by, cc-by
    DOI - Digital Object Identifier: 10.1038/s41531-024-00729-8
    Best OA location URL:
    Citation Count: 0
  • Mechanism of human PINK1 activation at the TOM complex in a reconstituted system
    2024
    OPEN
    Title: Mechanism of human PINK1 activation at the TOM complex in a reconstituted system
    Author(s): Olawale G. Raimi, Hina Ojha, Kenneth Ehses, Verena Dederer, Sven M. Lange, Cristian Polo Rivera, Tom Deegan, Yin-Chen Chen, Melanie Wightman, Rachel Toth, Karim Labib, Sebastian Mathea, Neil A. Ranson, Rubén Fernández‐Busnadiego, Miratul M. K. Muqit
    Journal Name: Science Advances
    Publisher: American Association for the Advancement of Science (AAAS)
    Vol: 10
    Issue #: 23
    Start Page:
    End Page:
    Publication Date:
    Open Access(OA) Status: OPEN
    License:
    DOI - Digital Object Identifier: 10.1126/sciadv.adn7191
    Best OA location URL:
    Citation Count: 2
  • Relationship between sex biases in gene expression and sex biases in autism and Alzheimer’s disease
    2024
    OPEN
    Title: Relationship between sex biases in gene expression and sex biases in autism and Alzheimer’s disease
    Author(s): Stuart B. Fass, Bernard Mulvey, Rebecca Chase, Wei Yang, Din Selmanovic, Sneha Chaturvedi, Eric Tycksen, Lauren A. Weiss, Joseph D. Dougherty
    Journal Name: Biology of Sex Differences
    Publisher: Springer Science and Business Media LLC
    Vol: 15
    Issue #: 1
    Start Page:
    End Page:
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by
    DOI - Digital Object Identifier: 10.1186/s13293-024-00622-2
    Best OA location URL:
    Citation Count: 3
  • A machine learning contest enhances automated freezing of gait detection and reveals time-of-day effects
    2024
    OPEN
    Title: A machine learning contest enhances automated freezing of gait detection and reveals time-of-day effects
    Author(s): Amit Salomon, Eran Gazit, Pieter Ginis, Baurzhan Urazalinov, Hirokazu Takoi, Taiki Yamaguchi, Shuhei Goda, Daniel Lander, Julien Lacombe, Aditya Sinha, Alice Nieuwboer, L. Kirsch, Ryan Holbrook, Brad Manor, Jeffrey M. Hausdorff
    Journal Name: Nature Communications
    Publisher: Springer Science and Business Media LLC
    Vol: 15
    Issue #: 1
    Start Page:
    End Page:
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by
    DOI - Digital Object Identifier: 10.1038/s41467-024-49027-0
    Best OA location URL:
    Citation Count: 2
  • Causal Forest Machine Learning Analysis of Parkinson’s Disease in Resting-State Functional Magnetic Resonance Imaging
    2024
    OPEN
    Title: Causal Forest Machine Learning Analysis of Parkinson’s Disease in Resting-State Functional Magnetic Resonance Imaging
    Author(s): Gabriel Solana-Lavalle, Michael D. Cusimano, Thomas Steeves, Roberto Rosas-Romero, Pascal N. Tyrrell
    Journal Name: Tomography
    Publisher: MDPI AG
    Vol: 10
    Issue #: 6
    Start Page: 894
    End Page: 911
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by
    DOI - Digital Object Identifier: 10.3390/tomography10060068
    Best OA location URL:
    Citation Count: 0
  • Building national patient registries in Mexico: insights from the MexOMICS Consortium
    2024
    OPEN
    Title: Building national patient registries in Mexico: insights from the MexOMICS Consortium
    Author(s): Paula Reyes‐Pérez, Ana Laura Hernández-Ledesma, Talía V. Román-López, Brisa García‐Vilchis, Diego Ramírez-González, Alejandra Lázaro‐Figueroa, D. Nayeli Martínez, Victor Flores-Ocampo, Ian M. Espinosa-Méndez, Lizbet Tinajero-Nieto, Angélica Peña-Ayala, Eugenia Morelos-Figaredo, Carlos M. Guerra-Galicia, Estefania Torres-Valdez, María Vanessa Gordillo-Huerta, Nadia A. Gandarilla-Martínez, Karla Salinas-Barboza, Guillermo Félix-Rodríguez, Gabriel Frontana-Vázquez, Yamil Matuk-Pérez, Ingrid Estrada‐Bellmann, D. Alpizar-Rodriguez, Mayela Rodríguez‐Violante, Miguel E. Rentería, Alejandra Evelyn Ruiz-Contreras, Sarael Alcauter, Alejandra Medina-Rivera
    Journal Name: Frontiers in Digital Health
    Publisher: Frontiers Media SA
    Vol: 6
    Issue #:
    Start Page:
    End Page:
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by
    DOI - Digital Object Identifier: 10.3389/fdgth.2024.1344103
    Best OA location URL:
    Citation Count: 0
  • Late‐onset Krabbe disease presenting as spastic paraplegia – implications of GCase and CTSB/D
    2024
    OPEN
    Title: Late‐onset Krabbe disease presenting as spastic paraplegia – implications of GCase and CTSB/D
    Author(s): Rebecca Mächtel, Jan‐Philipp Dobert, Ute Hehr, Alexander Weiß, Matthias Kettwig, Lucia Laugwitz, Samuel Groeschel, Manuel Schmidt, Philipp Arnold, Martin Regensburger, Friederike Zunke
    Journal Name: Annals of Clinical and Translational Neurology
    Publisher: Wiley
    Vol: 11
    Issue #: 7
    Start Page: 1715
    End Page: 1731
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by
    DOI - Digital Object Identifier: 10.1002/acn3.52078
    Best OA location URL:
    Citation Count: 1
  • The immune system in Parkinson’s disease: what we know so far
    2024
    OPEN
    Title: The immune system in Parkinson’s disease: what we know so far
    Author(s): Cintia Roodveldt, Liliana Bernardino, Özgür Öztop Çakmak, Milorad Dragić, Kari E. Fladmark, Sibel Ertan, Aktas Busra, Cristina Pita, Lucia Ciglar, Gaëtan Garraux, Caroline H. Williams‐Gray, Rodrigo Pacheco, Marina Romero‐Ramos
    Journal Name: Brain
    Publisher: Oxford University Press (OUP)
    Vol: 147
    Issue #: 10
    Start Page:
    End Page:
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by-nc
    DOI - Digital Object Identifier: 10.1093/brain/awae177
    Best OA location URL:
    Citation Count: 0
  • Twelve Years of Drug Prioritization to Help Accelerate Disease Modification Trials in Parkinson’s Disease: The International Linked Clinical Trials Initiative
    2024
    OPEN
    Title: Twelve Years of Drug Prioritization to Help Accelerate Disease Modification Trials in Parkinson’s Disease: The International Linked Clinical Trials Initiative
    Author(s): Richard Wyse, Tom Isaacs, Roger A. Barker, Mark Cookson, Ted M. Dawson, David Devos, David T. Dexter, Joy Duffen, Howard J. Federoff, Brian Fiske, Thomas Foltynie, Susan Fox, J. Timothy Greenamyre, Karl Kieburtz, Jeffrey H. Kordower, Dimitri Krainc, Helen Matthews, Darren J. Moore, Leah Mursaleen, Michael A. Schwarzschild, Simon Stott, David Sulzer, Per Svenningsson, Caroline M. Tanner, Camille Carroll, David K. Simon, Patrik Brundin
    Journal Name: Journal of Parkinson's Disease
    Publisher: IOS Press
    Vol: 14
    Issue #: 4
    Start Page: 657
    End Page: 666
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by-nc
    DOI - Digital Object Identifier: 10.3233/jpd-230363
    Best OA location URL:
    Citation Count: 1
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