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  • DNA methylation changes associated with Parkinson’s disease progression: outcomes from the first longitudinal genome-wide methylation analysis in blood
    2019
    Summary Details
    OPEN
    Title: DNA methylation changes associated with Parkinson’s disease progression: outcomes from the first longitudinal genome-wide methylation analysis in blood
    Author(s): Adrienne Henderson-Smith, Kathleen M. Fisch, Jianping Hua, Ganqiang Liu, Eugenia Ricciardelli, Kristen Jepsen, Mathew Huentelman, Gabriel Stalberg, Steven D. Edland, Clemens R. Scherzer, Travis Dunckley, Paula Desplats
    Journal Name: Epigenetics
    Publisher: Informa UK Limited
    Vol: 14
    Issue #: 4
    Start Page: 365
    End Page: 382
    Publication Date:
    Open Access(OA) Status: OPEN
    License:
    DOI - Digital Object Identifier: 10.1080/15592294.2019.1588682
    Best OA location URL: https://www.tandfonline.com/doi/pdf/10.1080/15592294.2019.1588682?needAccess=true
    Citation Count: 90
  • Precompetitive Data Sharing as a Catalyst to Address Unmet Needs in Parkinson’s Disease 1
    2015
    Summary Details
    OPEN
    Title: Precompetitive Data Sharing as a Catalyst to Address Unmet Needs in Parkinson’s Disease 1
    Author(s): Diane Stephenson, Michele T. Hu, Klaus Romero, Kieran C. Breen, David J. Burn, Yoav Ben‐Shlomo, Atul Bhattaram, Maria Isaac, Charles S. Venuto, Ken Kubota, Max A. Little, Stephen Friend, Simon Lovestone, Huw R. Morris, Donald G. Grosset, Margaret Sutherland, John Gallacher, Caroline H. Williams‐Gray, Lisa J. Bain, Enrique Avilés, Kenneth Marek, Arthur W. Toga, Yafit Stark, Mark Forrest Gordon, Steve Ford
    Journal Name: Journal of Parkinson's Disease
    Publisher: SAGE Publications
    Vol: 5
    Issue #: 3
    Start Page: 581
    End Page: 594
    Publication Date:
    Open Access(OA) Status: OPEN
    License:
    DOI - Digital Object Identifier: 10.3233/jpd-150570
    Best OA location URL: https://content.iospress.com:443/download/journal-of-parkinsons-disease/jpd150570?id=journal-of-parkinsons-disease%2Fjpd150570
    Citation Count: 30
  • Feasibility and Safety of Multicenter Tissue and Biofluid Sampling for α-Synuclein in Parkinson’s Disease: The Systemic Synuclein Sampling Study (S4)
    2018
    Summary Details
    OPEN
    Title: Feasibility and Safety of Multicenter Tissue and Biofluid Sampling for α-Synuclein in Parkinson’s Disease: The Systemic Synuclein Sampling Study (S4)
    Author(s): Lana M. Chahine, Thomas G. Beach, Nicholas Seedorff, Chelsea Caspell‐Garcia, Christopher S. Coffey, Michael C. Brumm, Charles H. Adler, Geidy E. Serrano, Carly Linder, Sherri Mosovsky, Tatiana Foroud, Holly Riss, Dixie Ecklund, John Seibyl, Danna Jennings, Vanessa Arnedo, Lindsey Riley, Kuldip D. Dave, Brit Mollenhauer, on behalf of the Systemic sSynuclein Sampling study
    Journal Name: Journal of Parkinson’s Disease
    Publisher: SAGE Publications
    Vol: 8
    Issue #: 4
    Start Page: 517
    End Page: 527
    Publication Date:
    Open Access(OA) Status: OPEN
    License:
    DOI - Digital Object Identifier: 10.3233/jpd-181434
    Best OA location URL: https://resolver.sub.uni-goettingen.de/purl?gro-2/137434
    Citation Count: 23
  • A Proposed Roadmap for Parkinson’s Disease Proof of Concept Clinical Trials Investigating Compounds Targeting Alpha-Synuclein
    2018
    Summary Details
    OPEN
    Title: A Proposed Roadmap for Parkinson’s Disease Proof of Concept Clinical Trials Investigating Compounds Targeting Alpha-Synuclein
    Author(s): Kalpana Merchant, Jesse M. Cedarbaum, Patrik Brundin, Kuldip D. Dave, Jamie L. Eberling, Alberto J. Espay, Samantha J. Hutten, Monica Javidnia, Johan Luthman, Walter Maetzler, Liliana Menalled, Alyssa Reimer, A. Jon Stoessl, David M. Weiner
    Journal Name: Journal of Parkinson's Disease
    Publisher: SAGE Publications
    Vol: 9
    Issue #: 1
    Start Page: 31
    End Page: 61
    Publication Date:
    Open Access(OA) Status: OPEN
    License:
    DOI - Digital Object Identifier: 10.3233/jpd-181471
    Best OA location URL: https://content.iospress.com:443/download/journal-of-parkinsons-disease/jpd181471?id=journal-of-parkinsons-disease%2Fjpd181471
    Citation Count: 56
  • Recruitment for Remote Decentralized Studies in Parkinson’s Disease
    2021
    Summary Details
    OPEN
    Title: Recruitment for Remote Decentralized Studies in Parkinson’s Disease
    Author(s): Taylor L. Myers, Erika F. Augustine, Elizabeth Baloga, Margaret Daeschler, Paul Cannon, Helen Rowbotham, Eli Chanoff, Stella Jensen-Roberts, Julia Soto, Robert G. Holloway, Connie Marras, Caroline M. Tanner, E. Ray Dorsey, Ruth B. Schneider
    Journal Name: Journal of Parkinson's Disease
    Publisher: SAGE Publications
    Vol: 12
    Issue #: 1
    Start Page: 371
    End Page: 380
    Publication Date:
    Open Access(OA) Status: OPEN
    License:
    DOI - Digital Object Identifier: 10.3233/jpd-212935
    Best OA location URL: https://escholarship.org/uc/item/0k98f47r
    Citation Count: 20
  • Outcomes of genetic test disclosure and genetic counseling in a large Parkinson's disease research study
    2020
    Summary Details
    RESTRICTED
    Title: Outcomes of genetic test disclosure and genetic counseling in a large Parkinson's disease research study
    Author(s): Jennifer Verbrugge, Lola Cook, Mandy Miller, Malia Rumbaugh, Jeanine Schulze, Laura Heathers, Leah Wetherill, Tatiana Foroud
    Journal Name: Journal of Genetic Counseling
    Publisher: Wiley
    Vol: 30
    Issue #: 3
    Start Page: 755
    End Page: 765
    Publication Date:
    Open Access(OA) Status: RESTRICTED
    License:
    DOI - Digital Object Identifier: 10.1002/jgc4.1366
    Citation Count: 22
  • Progression of MDS‐UPDRS Scores Over Five Years in De Novo Parkinson Disease from the Parkinson's Progression Markers Initiative Cohort
    2017
    Summary Details
    RESTRICTED
    Title: Progression of MDS‐UPDRS Scores Over Five Years in De Novo Parkinson Disease from the Parkinson's Progression Markers Initiative Cohort
    Author(s): Samantha K. Holden, Taylor Finseth, Stefan Sillau, Brian D. Berman
    Journal Name: Movement Disorders Clinical Practice
    Publisher: Wiley
    Vol: 5
    Issue #: 1
    Start Page: 47
    End Page: 53
    Publication Date:
    Open Access(OA) Status: RESTRICTED
    License:
    DOI - Digital Object Identifier: 10.1002/mdc3.12553
    Best OA location URL: https://www.ncbi.nlm.nih.gov/pmc/articles/5898442
    Citation Count: 208
  • Deep gray matter volume loss drives disability worsening in multiple sclerosis
    2018
    Summary Details
    OPEN
    Title: Deep gray matter volume loss drives disability worsening in multiple sclerosis
    Author(s): Arman Eshaghi, Ferrán Prados, Wallace Brownlee, Daniel R. Altmann, Carmen Tur, M. Jorge Cardoso, Floriana De Angelis, Steven H. van de Pavert, Niamh Cawley, Nicola De Stefano, ML Stromillo, Marco Battaglini, Serena Ruggieri, Claudio Gasperini, Massimo Filippi, Maria A. Rocca, Àlex Rovira, Jaume Sastre‐Garriga, Hugo Vrenken, Cyra E Leurs, Joep Killestein, Lukas Pirpamer, Christian Enzinger, Sébastien Ourselin, Claudia A. M. Gandini Wheeler‐Kingshott, Declan Chard, Alan J. Thompson, Daniel C. Alexander, Frederik Barkhof, Olga Ciccarelli, on behalf of the MAGNIMS study group
    Journal Name: Annals of Neurology
    Publisher: Wiley
    Vol: 83
    Issue #: 2
    Start Page: 210
    End Page: 222
    Publication Date:
    Open Access(OA) Status: OPEN
    License:
    DOI - Digital Object Identifier: 10.1002/ana.25145
    Best OA location URL: https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ana.25145
    Citation Count: 432
  • Magnetic resonance T1w/T2w ratio: A parsimonious marker for Parkinson disease
    2018
    Summary Details
    RESTRICTED
    Title: Magnetic resonance T1w/T2w ratio: A parsimonious marker for Parkinson disease
    Author(s): Guangwei Du, Mechelle M. Lewis, Christopher T. Sica, Lan Kong, Xuemei Huang
    Journal Name: Annals of Neurology
    Publisher: Wiley
    Vol: 85
    Issue #: 1
    Start Page: 96
    End Page: 104
    Publication Date:
    Open Access(OA) Status: RESTRICTED
    License:
    DOI - Digital Object Identifier: 10.1002/ana.25376
    Citation Count: 41
  • Higher urate in LRRK2 mutation carriers resistant to Parkinson disease
    2019
    Summary Details
    RESTRICTED
    Title: Higher urate in LRRK2 mutation carriers resistant to Parkinson disease
    Author(s): Rachit Bakshi, Eric A. Macklin, Robert Logan, Musab Zorlu, Ning Xia, Grace F. Crotty, Ellen Zhang, Xiqun Chen, Alberto Ascherio, Michael A. Schwarzschild
    Journal Name: Annals of Neurology
    Publisher: Wiley
    Vol: 85
    Issue #: 4
    Start Page: 593
    End Page: 599
    Publication Date:
    Open Access(OA) Status: RESTRICTED
    License:
    DOI - Digital Object Identifier: 10.1002/ana.25436
    Citation Count: 56
  • Fine‐Mapping of SNCA in Rapid Eye Movement Sleep Behavior Disorder and Overt Synucleinopathies
    2020
    Summary Details
    OPEN
    Title: Fine‐Mapping of SNCA in Rapid Eye Movement Sleep Behavior Disorder and Overt Synucleinopathies
    Author(s): Lynne Krohn, Richard Y. J. Wu, Karl Heilbron, Jennifer A. Ruskey, Sandra B. Laurent, Cornelis Blauwendraat, Armaghan Alam, Isabelle Arnulf, Michele T. M. Hu, Yves Dauvilliers, Birgit Högl, Mathias Toft, Kari Anne Bjørnarå, Ambra Stefani, Evi Holzknecht, Christelle Monaca, Beatriz Abril, Giuseppe Plazzi, Elena Antelmi, Luigi Ferini‐Strambi, Peter Young, Anna Heidbreder, Valérie Cochen De Cock, Brit Mollenhauer, Friederike Sixel‐Döring, Claudia Trenkwalder, Karel Šonka, David Kemlink, Michela Figorilli, Monica Puligheddu, Femke Dijkstra, Mineke Viaene, Wolfang Oertel, Marco Toffoli, Gian Luigi Gigli, Mariarosaria Valente, Jean‐François Gagnon, Mike A. Nalls, Andrew B. Singleton, Alex Désautels, Jacques Montplaisir, Paul J. Cannon, Owen A. Ross, Bradley F. Boeve, Nicolas Dupré, Edward A. Fon, Ronald B. Postuma, Lasse Pihlstrøm, Guy A. Rouleau, Ziv Gan‐Or
    Journal Name: Annals of Neurology
    Publisher: Wiley
    Vol: 87
    Issue #: 4
    Start Page: 584
    End Page: 598
    Publication Date:
    Open Access(OA) Status: OPEN
    License:
    DOI - Digital Object Identifier: 10.1002/ana.25687
    Best OA location URL: http://hdl.handle.net/11380/1205937
    Citation Count: 63
  • Plasma MIA , CRP , and Albumin Predict Cognitive Decline in Parkinson's Disease
    2022
    Summary Details
    OPEN
    Title: Plasma MIA , CRP , and Albumin Predict Cognitive Decline in Parkinson's Disease
    Author(s): Junchao Shen, Noor Amari, Rebecca Zack, R. Tyler Skrinak, Travis L. Unger, Marijan Posavi, Thomas F. Tropea, Sharon X. Xie, Vivianna M. Van Deerlin, Richard B. Dewey, Daniel Weintraub, John Q. Trojanowski, Alice Chen‐Plotkin
    Journal Name: Annals of Neurology
    Publisher: Wiley
    Vol: 92
    Issue #: 2
    Start Page: 255
    End Page: 269
    Publication Date:
    Open Access(OA) Status: OPEN
    License:
    DOI - Digital Object Identifier: 10.1002/ana.26410
    Best OA location URL: https://www.ncbi.nlm.nih.gov/pmc/articles/9329215
    Citation Count: 32
  • Genome‐Wide Analysis of Structural Variants in Parkinson Disease
    2023
    Summary Details
    OPEN
    Title: Genome‐Wide Analysis of Structural Variants in Parkinson Disease
    Author(s): Kimberley J. Billingsley, Jinhui Ding, Pilar Álvarez Jerez, Anastasia Illarionova, Kristin Levine, Francis P. Grenn, Mary B. Makarious, Anni Moore, Dan Vitale, Xylena Reed, Dena Hernández, Ali Torkamani, Mina Ryten, John Hardy, Ruth Chia, Sonja W. Scholz, Bryan J. Traynor, Clifton L. Dalgard, Debra Ehrlich, Toshiko Tanaka, Luigi Ferrucci, Thomas G. Beach, Geidy E. Serrano, John P. Quinn, Vivien J. Bubb, Ryan L. Collins, Xuefang Zhao, Mark Walker, Emma Pierce‐Hoffman, Harrison Brand, Michael E. Talkowski, Bradford Casey, Mark Cookson, Androo J. Markham, Mike A. Nalls, Medhat Mahmoud, Fritz J. Sedlazeck, Cornelis Blauwendraat, J. Raphael Gibbs, Andrew Singleton
    Journal Name: Annals of Neurology
    Publisher: Wiley
    Vol: 93
    Issue #: 5
    Start Page: 1012
    End Page: 1022
    Publication Date:
    Open Access(OA) Status: OPEN
    License:
    DOI - Digital Object Identifier: 10.1002/ana.26608
    Best OA location URL: https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ana.26608
    Citation Count: 37
  • Development of a Disease Progression Model for Leucine‐Rich Repeat Kinase 2 in Parkinson's Disease to Inform Clinical Trial Designs
    2019
    Summary Details
    OPEN
    Title: Development of a Disease Progression Model for Leucine‐Rich Repeat Kinase 2 in Parkinson's Disease to Inform Clinical Trial Designs
    Author(s): Malidi Ahamadi, Daniela J. Conrado, Sreeraj Macha, Vikram Sinha, Julie A. Stone, Jackson Burton, Timothy Nicholas, Jill Gallagher, David T. Dexter, Massimo Bani, Babak Boroojerdi, Hans Smit, Jonas Weidemann, Chao Chen, Minhua Yang, Romeo Maciuca, Rachael A. Lawson, David J. Burn, Kenneth Marek, Charles S. Venuto, Bob Stafford, Mussie Akalu, Diane Stephenson, Klaus Romero
    Journal Name: Clinical Pharmacology & Therapeutics
    Publisher: Wiley
    Vol: 107
    Issue #: 3
    Start Page: 553
    End Page: 562
    Publication Date:
    Open Access(OA) Status: OPEN
    License:
    DOI - Digital Object Identifier: 10.1002/cpt.1634
    Best OA location URL: https://www.ncbi.nlm.nih.gov/pmc/articles/7939141
    Citation Count: 19
  • Aberrant cerebral network topology and mild cognitive impairment in early Parkinson's disease
    2015
    Summary Details
    RESTRICTED
    Title: Aberrant cerebral network topology and mild cognitive impairment in early Parkinson's disease
    Author(s): Lorenzo Tosi
    Journal Name: Human Brain Mapping
    Publisher: Wiley
    Vol: 36
    Issue #: 8
    Start Page: 50
    End Page: 95
    Publication Date:
    Open Access(OA) Status: RESTRICTED
    License:
    DOI - Digital Object Identifier: 10.1002/hbm.22822
    Best OA location URL: https://kclpure.kcl.ac.uk/portal/en/publications/f5e24699-93e4-49fc-a6e3-c3d92fd2d0b9
    Citation Count: 0
  • Early-stage idiopathic Parkinson’s disease is associated with reduced circular RNA expression
    2024
    Summary Details
    OPEN
    Title: Early-stage idiopathic Parkinson’s disease is associated with reduced circular RNA expression
    Author(s): B Whittle, Osagie Izuogu, Hannah Lowes, Dasha Deen, Angela Pyle, Jon Coxhead, Rachael A. Lawson, Alison J. Yarnall, Michael S. Jackson, Mauro Santibanez‐Koref, Gavin Hudson
    Journal Name: npj Parkinson's Disease
    Publisher: Springer Science and Business Media LLC
    Vol: 10
    Issue #: 1
    Start Page: 25
    End Page: 25
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by
    DOI - Digital Object Identifier: 10.1038/s41531-024-00636-y
    Best OA location URL: https://www.nature.com/articles/s41531-024-00636-y.pdf
    Citation Count: 20
  • Additive effect of distant Lewy bodies and tau seeds injections on nigral degeneration in macaques
    2025
    Summary Details
    OPEN
    Title: Additive effect of distant Lewy bodies and tau seeds injections on nigral degeneration in macaques
    Author(s): Morgane Darricau, Valentine Kulifaj, Marie-Laure Arotçarena, Qin Li, Taxiarchis Katsinelos, William A. McEwan, Maria Xilouri, Benjamin Dehay, Erwan Bézard, Vincent Planche
    Journal Name: npj Parkinson's Disease
    Publisher: Springer Science and Business Media LLC
    Vol: 11
    Issue #: 1
    Start Page: 75
    End Page: 75
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by-nc-nd
    DOI - Digital Object Identifier: 10.1038/s41531-025-00938-9
    Best OA location URL: https://www.nature.com/articles/s41531-025-00938-9.pdf
    Citation Count: 2
  • Dysregulated Wnt and NFAT signaling in a Parkinson’s disease LRRK2 G2019S knock-in model
    2024
    Summary Details
    OPEN
    Title: Dysregulated Wnt and NFAT signaling in a Parkinson’s disease LRRK2 G2019S knock-in model
    Author(s): Andrea Wetzel, Si Hang Lei, Tiansheng Liu, Michael Hughes, Yunan Peng, Tristan R. McKay, Simon N. Waddington, Simone Grannò, Ahad A. Rahim, Kirsten Harvey
    Journal Name: Scientific Reports
    Publisher: Springer Science and Business Media LLC
    Vol: 14
    Issue #: 1
    Start Page: 12393
    End Page: 12393
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by
    DOI - Digital Object Identifier: 10.1038/s41598-024-63130-8
    Best OA location URL: https://www.nature.com/articles/s41598-024-63130-8.pdf
    Citation Count: 16
  • PINK1 regulated mitophagy is evident in skeletal muscles
    2024
    Summary Details
    OPEN
    Title: PINK1 regulated mitophagy is evident in skeletal muscles
    Author(s): François Singh, Léa P. Wilhelm, Alan R. Prescott, Kevin Ostacolo, Jin‐Feng Zhao, Margrét H. Ögmundsdóttir, Ian G. Ganley
    Journal Name: Autophagy Reports
    Publisher: Informa UK Limited
    Vol: 3
    Issue #: 1
    Start Page: 2326402
    End Page: 2326402
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by
    DOI - Digital Object Identifier: 10.1080/27694127.2024.2326402
    Best OA location URL: https://www.tandfonline.com/doi/pdf/10.1080/27694127.2024.2326402?needAccess=true
    Citation Count: 18
  • Distinct spatiotemporal atrophy patterns in corticobasal syndrome are associated with different underlying pathologies
    2025
    Summary Details
    OPEN
    Title: Distinct spatiotemporal atrophy patterns in corticobasal syndrome are associated with different underlying pathologies
    Author(s): William J. Scotton, Cameron Shand, Emily Todd, Martina Bocchetta, Christopher Kobylecki, David M. Cash, Lawren VandeVrede, Hilary W. Heuer, Annelies Quaegebeur, Alexandra L. Young, Neil P. Oxtoby, Daniel C. Alexander, James B. Rowe, Huw R. Morris, Bradley F. Boeve, Brad C. Dickerson, Carmela M Tartaglia, Irene Litvan, Murray Grossman, Alexander Pantelyat, Edward D. Huey, David J. Irwin, Anne M. Fagan, Suzanne L. Baker, Arthur W. Toga, Adam L. Boxer, Edwin Jabbari, Marte Theilmann Jensen, Danielle Lux, Riona Fumi, David Vaughan, Henry Houlden, Michele T M Hu, Peter Leigh, Jonathan D. Rohrer, P. A. Wijeratne
    Journal Name: Brain Communications
    Publisher: Oxford University Press (OUP)
    Vol: 7
    Issue #: 2
    Start Page: fcaf066
    End Page: fcaf066
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by
    DOI - Digital Object Identifier: 10.1093/braincomms/fcaf066
    Best OA location URL: https://doi.org/10.1093/braincomms/fcaf066
    Citation Count: 1
  • Neuroimaging-based data-driven subtypes of spatiotemporal atrophy due to Parkinson’s disease
    2025
    Summary Details
    OPEN
    Title: Neuroimaging-based data-driven subtypes of spatiotemporal atrophy due to Parkinson’s disease
    Author(s): Zeena Shawa, Cameron Shand, Beatrice Taylor, Henk W. Berendse, Chris Vriend, Tim D. van Balkom, Odile A. van den Heuvel, Ysbrand D. van der Werf, Jiun‐Jie Wang, Chih‐Chien Tsai, Jason Druzgal, Benjamin T. Newman, Tracy R. Melzer, Toni L. Pitcher, John C. Dalrymple‐Alford, Tim Anderson, Gaëtan Garraux, Mario Rango, Petra Schwingenschuh, Melanie Suette, Laura M. Parkes, Sarah Al–Bachari, Johannes Klein, Michele T M Hu, Corey T. McMillan, Fabrizio Piras, Daniela Vecchio, Clelia Pellicano, Chencheng Zhang, Kathleen L. Poston, Elnaz Ghasemi, Fernando Cendes, Clarissa Lin Yasuda, Duygu Tosun, Philip Mosley, Paul M. Thompson, Neda Jahanshad, Conor Owens‐Walton, Emile d’Angremont, Eva M. van Heese, Max A. Laansma, André Altmann, ENIGMA Parkinson’s Disease Working Group, Max A. Laansma, Joanna K. Bright, Sarah Al-Bachari, Tim Anderson, Tyler Ard, Francesca Assogna, Katherine Baquero, Henk W. Berendse, Benajmin Newman, Fernando Cendes, John C Dalrymple-Alford, Rob M.A. de Bie, Ines Debove, Michiel F. Dirkx, Jason Druzgal, Hedley Emsley, Gaëtan Garraux, Rachel Guimarães, Boris A. Gutman, Rick C. Helmich, Johannes Klein, Clare E. Mackay, Corey T. McMillan, Tracy R Melzer, Laura M. Parkes, Fabrizio Piras, Toni L. Pitcher, Kathleen L. Poston, Mario Rango, Letícia Ribeiro, Cristiane S. Rocha, Christian Rummel, Lucas S. R. Santos, Reinhold Schmidt, Petra Schwingenschuh, Gianfranco Spalletta, Letizia Squarcina, Odile A. van den Heuvel, Chris Vriend, Jiun‐Jie Wang, Daniel Weintraub, Roland Wiest, Clarissa Lin Yasuda, Neda Jahanshad, Paul M Thompson, Ysbrand D. van der Werf, Rimona S. Weil, Neil P. Oxtoby
    Journal Name: Brain Communications
    Publisher: Oxford University Press (OUP)
    Vol: 7
    Issue #: 2
    Start Page: fcaf146
    End Page: fcaf146
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by
    DOI - Digital Object Identifier: 10.1093/braincomms/fcaf146
    Best OA location URL: https://doi.org/10.1093/braincomms/fcaf146
    Citation Count: 8
  • Biallelic NDUFA13 variants lead to a neurodevelopmental phenotype with gradual neurological impairment
    2024
    Summary Details
    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: fcae453
    End Page: fcae453
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by
    DOI - Digital Object Identifier: 10.1093/braincomms/fcae453
    Best OA location URL: https://academic.oup.com/braincomms/advance-article-pdf/doi/10.1093/braincomms/fcae453/61218229/fcae453.pdf
    Citation Count: 2
  • Autosomal recessive VWA1-related disorder: comprehensive analysis of phenotypic variability and genetic mutations
    2024
    Summary Details
    OPEN
    Title: Autosomal recessive VWA1-related disorder: comprehensive analysis of phenotypic variability and genetic mutations
    Author(s): Sara Nagy, Alistair T. Pagnamenta, Elisa Calì, Hilde M. H. Braakman, Juerd Wijntjes, Benno Küsters, Marc Gotkine, Orly Elpeleg, Vardiella Meiner, Jerica Lenberg, Kristen Wigby, Jennifer Friedman, Luke Perry, Alexander M. Rossor, Anna Uhrová Mészárosová, Dana Thomasová, Saiju Jacob, Mary O’Driscoll, Lenika De Simone, Dorothy K. Grange, R. Brian Sommerville, Zahra Firoozfar, Shahryar Alavi, Mahta Mazaheri, J. Parmar, Phillipa J. Lamont, Veronica Pini, Anna Sárközy, Francesco Muntoni, Gianina Ravenscroft, Eppie R. Jones, Declan O’Rourke, Melissa Nel, Jeannine M. Heckmann, Michelle Kvalsund, Musambo M Kapapa, Somwe Wa Somwe, David Bearden, Arman Çakar, Anne‐Marie Childs, Rita Horváth, Mary M. Reilly, Henry Houlden, Reza Maroofian
    Journal Name: Brain Communications
    Publisher: Oxford University Press (OUP)
    Vol: 6
    Issue #: 6
    Start Page: fcae377
    End Page: fcae377
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by
    DOI - Digital Object Identifier: 10.1093/braincomms/fcae377
    Best OA location URL: https://doi.org/10.1093/braincomms/fcae377
    Citation Count: 6
  • Pathologic RFC1 repeat expansions do not contribute to the development of inflammatory neuropathies
    2024
    Summary Details
    OPEN
    Title: Pathologic RFC1 repeat expansions do not contribute to the development of inflammatory neuropathies
    Author(s): Sara Nagy, Aisling Carr, Magdalena Mroczek, Simon Rinaldi, Riccardo Curró, Natalia Dominik, Nicole Japzon, Francesca Magrinelli, Michael P. Lunn, Hadi Manji, Mary M. Reilly, Andrea Cortese, Henry Houlden
    Journal Name: Brain Communications
    Publisher: Oxford University Press (OUP)
    Vol: 6
    Issue #: 4
    Start Page: fcae163
    End Page: fcae163
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by
    DOI - Digital Object Identifier: 10.1093/braincomms/fcae163
    Best OA location URL: https://academic.oup.com/braincomms/advance-article-pdf/doi/10.1093/braincomms/fcae163/58040219/fcae163.pdf
    Citation Count: 1
  • Biallelic LGI1 and ADAM23 variants cause hippocampal epileptic encephalopathy via the LGI1–ADAM22/23 pathway
    2025
    Summary Details
    OPEN
    Title: Biallelic LGI1 and ADAM23 variants cause hippocampal epileptic encephalopathy via the LGI1–ADAM22/23 pathway
    Author(s): Yoko Hirano, Yuri Miyazaki, Daisuke Ishikawa, Hiroki Inahashi, Zuhair N. Al‐Hassnan, Giovanni Zifarelli, Peter Bauer, Javeria Raza Alvi, Tipu Sultan, Michelle L. Thompson, Abdullah Sezer, Bahadır Konuşkan, Razan S Hajir, Ayman W. El‐Hattab, Stéphanie Efthymiou, Ayuki Ishida, Norihiko Yokoi, Hans‐Christian Kornau, Dietmar Schmitz, Harald Prüß, Henry Houlden, Yuji Ikegaya, Yuko Fukata, Masaki Fukata, Reza Maroofian
    Journal Name: Brain
    Publisher: Oxford University Press (OUP)
    Vol: 148
    Issue #: 10
    Start Page: 3514
    End Page: 3522
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by
    DOI - Digital Object Identifier: 10.1093/brain/awaf202
    Best OA location URL: https://academic.oup.com/brain/advance-article-pdf/doi/10.1093/brain/awaf202/63419094/awaf202.pdf
    Citation Count: 1
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