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MJFF Publications
171 - 180 of 8399 Results
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Year
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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:
    Open Access(OA) Status: OPEN
    License: cc-by
    DOI - Digital Object Identifier: 10.1038/s41531-025-00884-6
    Best OA location URL:
    Citation Count: 1
  • 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:
    Open Access(OA) Status: OPEN
    License: cc-by
    DOI - Digital Object Identifier: 10.1093/bioinformatics/btaf079
    Best OA location URL:
    Citation Count: 0
  • Cyclic Alternating Pattern Dynamics in Individuals at Risk for Developing Parkinson's Disease
    2025
    OPEN
    Title: Cyclic Alternating Pattern Dynamics in Individuals at Risk for Developing Parkinson's Disease
    Author(s): Andrew Dagay, Shlomit Katzav, Danielle Wasserman, Valentina Gnoni, Anat Mirelman, Riva Tauman
    Journal Name: Annals of Neurology
    Publisher: Wiley
    Vol:
    Issue #:
    Start Page:
    End Page:
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by-nc-nd
    DOI - Digital Object Identifier: 10.1002/ana.27217
    Best OA location URL: https://doi.org/10.1002/ana.27217
    Citation Count: 0
  • Diplopia in the Spinocerebellar Ataxias: Prevalence, Risk Factors, and Association with Falls
    2025
    RESTRICTED
    Title: Diplopia in the Spinocerebellar Ataxias: Prevalence, Risk Factors, and Association with Falls
    Author(s): Klyve N. Otinkorang, Joaquín A. Vizcarra, Ali G. Hamedani
    Journal Name: Neuro-Ophthalmology
    Publisher: Informa UK Limited
    Vol: 49
    Issue #: 3
    Start Page: 1
    End Page: 6
    Publication Date:
    Open Access(OA) Status: RESTRICTED
    License:
    DOI - Digital Object Identifier: 10.1080/01658107.2025.2468446
    Best OA location URL:
    Citation Count: 0
  • 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:
    Open Access(OA) Status: OPEN
    License: cc-by
    DOI - Digital Object Identifier: 10.1371/journal.pone.0317566
    Best OA location URL:
    Citation Count: 0
  • 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:
    Open Access(OA) Status: OPEN
    License: cc-by-nc-nd
    DOI - Digital Object Identifier: 10.1038/s41598-025-90678-w
    Best OA location URL:
    Citation Count: 0
  • Heartbeat signature for predicting motor and non-motor involvement among nonparkinsonian LRRK2 G2019S mutation carriers
    2025
    RESTRICTED
    Title: Heartbeat signature for predicting motor and non-motor involvement among nonparkinsonian LRRK2 G2019S mutation carriers
    Author(s): Claudia Carricarte Naranjo, Connie Marras, Naomi P. Visanji, David Cornforth, Lazaro M. Sanchez-Rodriguez, Birgitt Schüle, Samuel M. Goldman, Mario Estévez, Phyllis K. Stein, Herbert F. Jelinek, Anthony E. Lang, Andrés Machado
    Journal Name: Clinical Autonomic Research
    Publisher: Springer Science and Business Media LLC
    Vol: 35
    Issue #: 3
    Start Page:
    End Page:
    Publication Date:
    Open Access(OA) Status: RESTRICTED
    License:
    DOI - Digital Object Identifier: 10.1007/s10286-024-01104-6
    Best OA location URL:
    Citation Count: 0
  • Amygdala Neurodegeneration: A Key Driver of Visual Dysfunction in Parkinson's Disease
    2025
    OPEN
    Title: Amygdala Neurodegeneration: A Key Driver of Visual Dysfunction in Parkinson's Disease
    Author(s): Asier Erramuzpe, Ane Murueta‐Goyena, Antonio Jiménez-Marín, M. Acera, Sara Teijeira‐Portas, Rocío Del Pino, Tamara Fernández, Ibai Díez, Unai Sainz‐Lugarezaresti, Naroa Ibarretxe‐Bilbao, Unai Ayala, Maitane Barrenechea, Alberto Cabrera‐Zubizarreta, Jesús M. Cortés, Juan Carlos Gómez‐Esteban, Iñigo Gabilondo
    Journal Name: Annals of Clinical and Translational Neurology
    Publisher: Wiley
    Vol: 12
    Issue #: 4
    Start Page:
    End Page:
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by-nc-nd
    DOI - Digital Object Identifier: 10.1002/acn3.70007
    Best OA location URL: https://doi.org/10.1002/acn3.70007
    Citation Count: 0
  • 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:
    Open Access(OA) Status: OPEN
    License: cc-by-nc-nd
    DOI - Digital Object Identifier: 10.1186/s40478-025-01948-7
    Best OA location URL:
    Citation Count: 0
  • 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:
    Open Access(OA) Status: OPEN
    License: cc-by
    DOI - Digital Object Identifier: 10.1038/s41531-025-00881-9
    Best OA location URL:
    Citation Count: 1
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