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91 - 100 of 8112 Results
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  • Multimodal Blood-Based Biomarker Panel Reveals Altered Lysosomal Ionic Content in Alzheimer’s Disease
    2024
    RESTRICTED
    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
    Start Page:
    End Page:
    Publication Date:
    Open Access(OA) Status: RESTRICTED
    License:
    DOI - Digital Object Identifier: 10.1021/acschembio.4c00602
    Best OA location URL:
    Citation Count: 0
  • 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:
    Open Access(OA) Status: OPEN
    License: cc-by-nc-nd
    DOI - Digital Object Identifier: 10.1038/s41531-024-00840-w
    Best OA location URL:
    Citation Count: 0
  • 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:
    Open Access(OA) Status: OPEN
    License: cc-by-nc-nd
    DOI - Digital Object Identifier: 10.1002/alz.14438
    Best OA location URL:
    Citation Count: 0
  • Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder
    2024
    RESTRICTED
    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:
    Open Access(OA) Status: RESTRICTED
    License:
    DOI - Digital Object Identifier: 10.1093/brain/awae363
    Best OA location URL:
    Citation Count: 0
  • 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:
    Open Access(OA) Status: OPEN
    License: cc-by, cc-by, cc-by
    DOI - Digital Object Identifier: 10.1093/braincomms/fcae453
    Best OA location URL:
    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:
    Open Access(OA) Status: OPEN
    License: cc-by
    DOI - Digital Object Identifier: 10.1371/journal.pone.0315183
    Best OA location URL:
    Citation Count: 0
  • 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:
    Open Access(OA) Status: OPEN
    License: cc-by, cc-by
    DOI - Digital Object Identifier: 10.1172/jci180478
    Best OA location URL:
    Citation Count: 0
  • 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:
    Open Access(OA) Status: OPEN
    License: cc-by
    DOI - Digital Object Identifier: 10.7554/elife.99914.3
    Best OA location URL:
    Citation Count: 0
  • 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:
    Open Access(OA) Status: OPEN
    License: cc-by-nc-nd
    DOI - Digital Object Identifier: 10.1002/mds.30081
    Best OA location URL:
    Citation Count: 0
  • 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:
    Open Access(OA) Status: OPEN
    License:
    DOI - Digital Object Identifier: 10.1093/brain/awae402
    Best OA location URL:
    Citation Count: 0
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