Title:Novel early‐onset Alzheimer‐associated genes influence risk through dysregulation of glutamate, immune activation, and intracellular signaling pathways
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Title:A data-driven model of brain volume changes in progressive supranuclear palsy
Author(s):William J. Scotton, Martina Bocchetta, Emily Todd, David M. Cash, Neil P. Oxtoby, L. VandeVrede, Hilary W. Heuer, Daniel C. Alexander, James B. Rowe, Huw R. Morris, Adam L. Boxer, Jonathan D. Rohrer, P. A. Wijeratne
Journal Name:Brain Communications
Publisher:Oxford University Press (OUP)
Vol:4
Issue #:3
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Open Access(OA) Status:OPEN
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DOI - Digital Object Identifier:10.1093/braincomms/fcac098
Title:Phosphorylation of Parkin at serine 65 is essential for its activationin vivo
Author(s):Thomas G. McWilliams, Erica Barini, Risto Pohjolan-Pirhonen, Simon P. Brooks, François Singh, Sophie Burel, Kristin Balk, Atul Kumar, Lambert Montava‐Garriga, Alan R. Prescott, Sidi Mohamed Hassoun, François Mouton‐Liger, Graeme Ball, Rachel Hills, Axel Knebel, Ayşe Ulusoy, Donato A. Di Monte, J. Tamjar, Odetta Antico, Kyle Fears, Laura Smith, Riccardo Brambilla, Eino Palin, Miko Valori, Johanna Eerola‐Rautio, Pentti J. Tienari, Olga Corti, Stephen B. Dunnett, Ian G. Ganley, Anu Suomalainen, Miratul M. K. Muqit
Journal Name:Open Biology
Publisher:The Royal Society
Vol:8
Issue #:11
Start Page:180108
End Page:180108
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Open Access(OA) Status:OPEN
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DOI - Digital Object Identifier:10.1098/rsob.180108
Title:Testing a longitudinal compensation model in premanifest Huntington’s disease
Author(s):Sarah Gregory, Jeffrey D. Long, Stefan Klöppel, Adeel Razi, Elisa Scheller, Lora Minkova, Eileanoir B. Johnson, Alexandra Dürr, Raymund A.C. Roos, Blair R. Leavitt, James A. Mills, Julie C. Stout, Rachael I. Scahill, Sarah J. Tabrizi, Geraint Rees, Alan Coleman, Joji Decolongon, Ming Fan, Tamara Koren, Blair R. Leavitt, Alexandra Dürr, C Jauffret, Damián Justo, Stéphane Lehéricy, K Nigaud, Romain Valabrègue, R. A. C. Roos, Ellen P. Hart, Anne Schoonderbeek, C. Berna, Helen Crawford, Rhia Ghosh, Davina J. Hensman Moss, Eileanoir B. Johnson, Peter McColgan, Marina Papoutsi, Joy Read, Gail Owen, David Craufurd, Ralf Reilmann, N Weber, Izelle Labuschagne, G. Bernhard Landwehrmeyer, Michael Orth
Journal Name:Brain
Publisher:Oxford University Press (OUP)
Vol:141
Issue #:7
Start Page:2156
End Page:2166
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Open Access(OA) Status:OPEN
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DOI - Digital Object Identifier:10.1093/brain/awy122
Title:KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation
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Journal Name:Brain
Publisher:Oxford University Press (OUP)
Vol:143
Issue #:11
Start Page:3242
End Page:3261
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Open Access(OA) Status:OPEN
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DOI - Digital Object Identifier:10.1093/brain/awaa304
Title:New insights into the genetic etiology of Alzheimer’s disease and related dementias
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Heckbert, Edith Hofer, Elliot Hong, Timothy M. Hughes, Tiffany F. Kautz, Maria J. Knol, William S. Kremen, Paul Lacaze, Jari Lahti, Quentin Le Grand, Elizabeth M. Litkowski, Shuo Li, Dan Liu, Xuan Liu, Marisa Loitfelder, Alisa K. Manning, Pauline Maillard, Riccardo E. Marioni, Bernard Mazoyer, Debora Melo van Lent, Hao Mei, Aniket Mishra, Paul Nyquist, Jeffrey R. O’Connell, Yash Patel, Tomáš Paus, Zdenka Pausová, Katri Raikkonen-Talvitie, Moeen Riaz, Stephen S. Rich, Jerome I. Rotter, José R. Romero, Gena Roshchupkin, Yasaman Saba, Muralidharan Sargurupremraj, Helena Schmidt, Reinhold Schmidt, Joshua Shulman, Jennifer A. Smith, Hema Sekhar, Reddy Rajula, Jean Shin, Jeannette Simino, Eeva Sliz, Alexander Teumer, Alvin G. Thomas, Adrienne Tin, Elliot M. Tucker‐Drob, Dina Vojinović, Yanbing Wang, Galit Weinstein, Dylan M. Williams, Katharina Wittfeld, Lisa R. Yanek, Yunju Yang, Lindsay A. Farrer, Bruce M. Psaty, Mohsen Ghanbari, Towfique Raj, Perminder S. Sachdev, Karen A. Mather, Frank Jessen, M. Arfan Ikram, Alexandre de Mendonça, Jakub Hort, Magda Tsolaki, Margaret A. Pericak‐Vance, Philippe Amouyel, Julie Williams, Ruth Frikke‐Schmidt, Jordi Clarimón, Jean‐François Deleuze, Giacomina Rossi, Sudha Seshadri, Ole A. Andreassen, Martin Ingelsson, Mikko Hiltunen, Kristel Sleegers, Gerard D. Schellenberg, Cornelia M. van Duijn, Rebecca Sims, Wiesje M. van der Flier, Agustı́n Ruiz, Alfredo Ramı́rez, Jean‐Charles Lambert
Journal Name:Nature Genetics
Publisher:Springer Science and Business Media LLC
Vol:54
Issue #:4
Start Page:412
End Page:436
Publication Date:
Open Access(OA) Status:OPEN
License:cc-by, cc-by, cc-by
DOI - Digital Object Identifier:10.1038/s41588-022-01024-z
Title:Graphene Microelectrode Arrays, 4D Structured Illumination Microscopy, and a Machine Learning Spike Sorting Algorithm Permit the Analysis of Ultrastructural Neuronal Changes During Neuronal Signaling in a Model of Niemann–Pick Disease Type C
Author(s):Meng Lü, Ernestine Hui, Marius Brockhoff, Jakob Träuble, Ana Fernández‐Villegas, Oliver J. Burton, Jacob R. Lamb, Edward Ward, Philippa J. Woodhams, Wadood Tadbier, Nino F. Läubli, Stephan Hofmann, Clemens F. Kaminski, Antonio Lombardo, Gabriele S. Kaminski Schierle
Journal Name:Advanced Science
Publisher:Wiley
Vol:11
Issue #:44
Start Page:
End Page:
Publication Date:
Open Access(OA) Status:OPEN
License:cc-by, cc-by, cc-by
DOI - Digital Object Identifier:10.1002/advs.202402967
Title:Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders
Author(s):Elisa Calì, Tania Quirin, Clarissa Rocca, Stéphanie Efthymiou, Antonella Riva, Dana Marafi, Maha S. Zaki, Mohnish Suri, Roberto Domínguez, Hasnaa M. Elbendary, Shahryar Alavi, Mohamed S. Abdel‐Hamid, Heba Morsy, Frédéric Tran Mau‐Them, Mathilde Nizon, Pavel Tesner, Lukáš Ryba, Faisal Zafar, Nuzhat Rana, Nebal Waill Saadi, Zahra Firoozfar, Pınar Gençpınar, Bülent Ünay, Canan Ustun, Ange‐Line Bruel, Christine Coubes, Jennifer Stefanich, Özlem Sezer, Emanuele Agolini, Antonio Novelli, Gessica Vasco, Donatella Lettori, Mathieu Milh, Laurent Villard, Shimriet Zeidler, Henry Opperman, Vincent Strehlow, Mahmoud Y. Issa, Hebatallah El Khassab, Prem Chand, Shahnaz Ibrahim, Ali Nejad-Rashidi, Mohammad Miryounesi, Pegah Larki, Jennifer Morrison, Ingrid Cristian, Isabelle Thiffault, Nicole Bertsch, Grace Noh, John Pappas, E Morán, Nikolaos M. Marinakis, Joanne Traeger‐Synodinos, Susan Hosseini, Mohammad Reza Abbaszadegan, Roseline Caumes, Lisenka E.L.M. Vissers, Maedeh Neshatdoust, Mostafa Zohour Montazer, Elmostafa El Fahime, Christin Canavati, Lara Kamal, Moien Kanaan, Omar Askander, V. Yu. Voinova, Olga Levchenko, Shahzhad Haider, Sara Halbach, Elias Rayana Maia, Mansoor Salehi, Jain Vivek, Sanjukta Tawde, Viveka Santhosh Reddy Challa, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, Lucas Alves Victor, Benito Pinero-Banos, Jennifer Hague, Heba Ahmed Ei-Awady, Adélia Maria de Miranda Henriques‐Souza, Huma Arshad Cheema, Muhammad Nadeem Anjum, Sara Idkaidak, Firas Alqarajeh, Osama Atawneh, Hagar Mor‐Shaked, Tamar Harel, Giovanni Zifarelli, Peter Bauer, Fernando Kok, João Paulo Kitajima, Fabíola Paoli Monteiro, Juliana Alves Josahkian, Gaëtan Lesca, Nicolas Chatron, Dorothe Ville, David Murphy, Jeffrey L. Neul, Sureni V. Mullegama, Amber Begtrup, Isabella Herman, Tadahiro Mitani, Jennifer E. Posey, Chee Geap Tay, Iram Javed, Lucinda Carr, Farah Kanani, Fiona Beecroft, Hane Lee, Elsayed Abdelkreem, Milan Macek, Lúciana Mota Bispo, Marwa Abd Elmaksoud, Feyzollah Hashemi‐Gorji, Davut Pehli̇van, David J. Amor, Rami Abou Jamra, Wendy K. Chung, Eshan Karimiani Ghayoor, Philippe M. Campeau, Fowzan S. Alkuraya, Alistair T. Pagnamenta, Joseph G. Gleeson, James R. Lupski, Pasquale Striano, Andrés Moreno-De-Luca, Denis L. J. Lafontaine, Henry Houlden, Reza Maroofian
Journal Name:Genetics in Medicine
Publisher:Elsevier BV
Vol:27
Issue #:4
Start Page:101251
End Page:101251
Publication Date:
Open Access(OA) Status:OPEN
License:cc-by, cc-by, cc-by
DOI - Digital Object Identifier:10.1016/j.gim.2024.101251
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