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  • A biobank for Parkinson's disease and atypical parkinsonism in central Asian and Transcaucasian regions
    2024
    Summary Details
    RESTRICTED
    Title: A biobank for Parkinson's disease and atypical parkinsonism in central Asian and Transcaucasian regions
    Author(s): Rauan Kaiyrzhanov, Nazira Zharkinbekova, Saltanat Abdraimova, Chingiz Shashkin, Zhanybek Myrzayev, Altynay Karimova, Maia Beridze, Sophia Sopromadze, Irine Khatiashvilli, Zaruhi Tavadyan, Samson Khachatryan, Mariam Isayan, Mariam Kekenadze, Marika Megrelishvili, Mariam Mshvenieradze, Gulnaz Kaishibayeva, Guzel Shiderova, Vadim Akhmetzhanov, Seitzhan Aidarov, Dinara Alzhanova, Bagzhan Syzdykova, Raushan Tautanova, Aigul P. Yermagambetova, Aigerim B. Utegenova, Alima A. Khamidulla, Zhanylsyn U. Urasheva, Gulnar B. Kabdrakhmanova, Talgat Khaibullin, Altynay Talgatkyzy, Manizha Ganieva, Maksudjon Isrofilov, Kanan Jafarov, Irina Gilyazova, Irina Khidiyatova, Elza Khusnutdinova, Gulnara Akhmadeeva, Anna Gareeva, Alexander Tsiskaridze, Valentina Escott-Price, John Hardy, Henry Houlden, Rauan Kaiyrzhanov
    Journal Name: The Lancet Neurology
    Publisher: Elsevier BV
    Vol: 23
    Issue #: 9
    Start Page: 859
    End Page: 860
    Publication Date:
    Open Access(OA) Status: RESTRICTED
    License:
    DOI - Digital Object Identifier: 10.1016/s1474-4422(24)00313-2
    Citation Count: 4
  • Analysis of C9orf72 repeat expansions in a large international cohort of dementia with Lewy bodies
    2016
    Summary Details
    OPEN
    Title: Analysis of C9orf72 repeat expansions in a large international cohort of dementia with Lewy bodies
    Author(s): Célia Kun‐Rodrigues, Owen A. Ross, Tatiana Orme, Claire E. Shepherd, Laura Parkkinen, Lee Darwent, Dena Hernandez, Olaf Ansorge, Lorraine N. Clark, Lawrence S. Honig, Karen Marder, Afina W. Lemstra, Philip Scheltens, Wiesje M. van der Flier, Eva Louwersheimer, Henne Holstege, Ekaterina Rogaeva, Peter St George‐Hyslop, Elisabet Londos, Henrik Zetterberg, Imelda Barber, Anne Braae, Kristelle Brown, Kevin Morgan, Walter Maetzler, Daniela Berg, Claire Troakes, Safa Al‐Sarraj, Tammaryn Lashley, Janice L. Holton, Yaroslau Compta, Vivianna M. Van Deerlin, John Q. Trojanowski, Geidy E. Serrano, Thomas G. Beach, Jordi Clarimón, Alberto Lleó, Estrella Morenas‐Rodríguez, Suzanne Lesage, Douglas Galasko, Eliezer Masliah, Isabel Santana, Mónica Díez-Fairén, Pau Pástor, Pentti J. Tienari, Liisa Myllykangas, Minna Oinas, Tamás Révész, Andrew J. Lees, Bradley F. Boeve, Ronald C. Petersen, Tanis J. Ferman, Valentina Escott‐Price, Caroline Graff, Nigel J. Cairns, John C. Morris, David J. Stone, Stuart Pickering‐Brown, David Mann, Dennis W. Dickson, Glenda M. Halliday, Andrew Singleton, Rita Guerreiro, José Brás
    Journal Name: Neurobiology of Aging
    Publisher: Elsevier BV
    Vol: 49
    Issue #:
    Start Page: 214.e13
    End Page: 214.e15
    Publication Date:
    Open Access(OA) Status: OPEN
    License:
    DOI - Digital Object Identifier: 10.1016/j.neurobiolaging.2016.08.023
    Best OA location URL: https://kclpure.kcl.ac.uk/ws/files/57187547/1_s2.0_S0197458016302019_main.pdf
    Citation Count: 14
  • KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation
    2020
    Summary Details
    OPEN
    Title: KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation
    Author(s): Laura Cif, Diane Demailly, Jean‐Pierre Lin, Katy Barwick, Mario Sa, Lucia Abela, Sony Malhotra, W.K. Chong, Dora Steel, Alba Sanchis-Juan, Adeline Ngoh, Natalie Trump, Esther Meyer, Xavier Vasques, Julia Rankin, Meredith W Allain, Carolyn Applegate, Sanaz Attaripour Isfahani, Julien Baleine, Bettina Balint, Jennifer A. Bassetti, Emma L. Baple, Kailash P. Bhatia, Catherine Blanchet, Lydie Bürglen, Gilles Cambonie, Emilie Chan Seng, Sandra Chantot‐Bastaraud, Fabienne Cyprien, Christine Coubes, Vincent d’Hardemare, Deciphering Developmental Disorders Study, Asif Doja, Nathalie Dorison, Diane Doummar, Marisela Dy-Hollins, Ellyn Farrelly, David Fitzpatrick, Conor Fearon, Elizabeth L. Fieg, Brent L. Fogel, Eva Forman, Rachel Fox, William A. Gahl, Serena Galosi, Victoria González, Tracey D. Graves, Allison Gregory, Mark Hallett, Harutomo Hasegawa, Susan J. Hayflick, Ada Hamosh, Marie Hully, Sandra Jansen, Suh Young Jeong, Joel B. Krier, Sidney Krystal, Kishore R. Kumar, Chloé Laurencin, Hane Lee, Gaëtan Lesca, Laurence Lion François, Timothy Lynch, Neil Mahant, Julián A. Martínez-Agosto, Christophe Milési, Kelly A. Mills, M. Mondain, Hugo Morales‐Briceño, NIHR BioResource, John R. Østergaard, Swasti Pal, J. Carl Pallais, Frédérique Pavillard, Pierre‐François Perrigault, Andrea Petersen, Gustavo Polo, Gaëtan Poulen, Tuula Rinne, Thomas Roujeau, Caleb Rogers, Agathe Roubertie, Michelle Sahagian, Élise Schaefer, Laila Selim, Richard Selway, Nutan Sharma, Rebecca Signer, Ariane Soldatos, David A. Stevenson, Fiona Stewart, Michel Tchan, Undiagnosed Diseases Network, Ishwar C. Verma, Bert B A de Vries, Jenny L. Wilson, Derek A. Wong, Raghda Mohamed Hesham Zaitoun, Dolly Zhen, Anna Znaczko, Russell C. Dale, Claudio M. de Gusmão, Jennifer Friedman, Victor S.C. Fung, Mary D. King, Shekeeb S. Mohammad, Luis Rohena, Jeff L. Waugh, Camilo Toro, F. Lucy Raymond, Maya Topf, Philippe Coubes, Kathleen M. Gorman, Manju A. Kurian
    Journal Name: Brain
    Publisher: Oxford University Press (OUP)
    Vol: 143
    Issue #: 11
    Start Page: 3242
    End Page: 3261
    Publication Date:
    Open Access(OA) Status: OPEN
    License:
    DOI - Digital Object Identifier: 10.1093/brain/awaa304
    Best OA location URL: https://academic.oup.com/brain/article-pdf/143/11/3242/36134972/awaa304.pdf
    Citation Count: 105
  • Universal clinical Parkinson’s disease axes identify a major influence of neuroinflammation
    2022
    Summary Details
    OPEN
    Title: Universal clinical Parkinson’s disease axes identify a major influence of neuroinflammation
    Author(s): Cynthia Sandor, Stephanie Millin, Andrew Dahl, Ann‐Kathrin Schalkamp, Michael Lawton, Leon Hubbard, Nabila Rahman, Nigel Williams, Yoav Ben‐Shlomo, Donald G. Grosset, Michele T. Hu, Jonathan Marchini, Caleb Webber
    Journal Name: Genome Medicine
    Publisher: Springer Science and Business Media LLC
    Vol: 14
    Issue #: 1
    Start Page: 129
    End Page: 129
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by, cc-by
    DOI - Digital Object Identifier: 10.1186/s13073-022-01132-9
    Best OA location URL: https://genomemedicine.biomedcentral.com/counter/pdf/10.1186/s13073-022-01132-9
    Citation Count: 17
  • Gait Progression Over 6 Years in Parkinson’s Disease: Effects of Age, Medication, and Pathology
    2020
    Summary Details
    OPEN
    Title: Gait Progression Over 6 Years in Parkinson’s Disease: Effects of Age, Medication, and Pathology
    Author(s): Joanna Wilson, Lisa Alcock, Alison J. Yarnall, Sue Lord, Rachael A. Lawson, Rosie Morris, John‐Paul Taylor, David J. Burn, Lynn Rochester, Brook Galna
    Journal Name: Frontiers in Aging Neuroscience
    Publisher: Frontiers Media SA
    Vol: 12
    Issue #:
    Start Page:
    End Page:
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by, cc-by
    DOI - Digital Object Identifier: 10.3389/fnagi.2020.577435
    Best OA location URL: https://www.frontiersin.org/articles/10.3389/fnagi.2020.577435/pdf
    Citation Count: 89
  • DNA isolation protocol effects on nuclear DNA analysis by microarrays, droplet digital PCR, and whole genome sequencing, and on mitochondrial DNA copy number estimation
    2017
    Summary Details
    OPEN
    Title: DNA isolation protocol effects on nuclear DNA analysis by microarrays, droplet digital PCR, and whole genome sequencing, and on mitochondrial DNA copy number estimation
    Author(s): Elizabeth Nacheva, Katya Mokretar, Aynur Soenmez, Alan Pittman, Colin Grace, Roberto Valli, Ayesha Ejaz, Selina Vattathil, Emanuela Maserati, Henry Houlden, Jan‐Willem Taanman, Anthony H.V. Schapira, Christos Proukakis
    Journal Name: PLOS ONE
    Publisher: Public Library of Science (PLoS)
    Vol: 12
    Issue #: 7
    Start Page: e0180467
    End Page: e0180467
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by, cc-by
    DOI - Digital Object Identifier: 10.1371/journal.pone.0180467
    Best OA location URL: https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0180467&type=printable
    Citation Count: 33
  • A data-driven model of brain volume changes in progressive supranuclear palsy
    2022
    Summary Details
    OPEN
    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
    Start Page: fcac098
    End Page: fcac098
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by, cc-by
    DOI - Digital Object Identifier: 10.1093/braincomms/fcac098
    Best OA location URL: https://academic.oup.com/braincomms/article-pdf/4/3/fcac098/44351975/fcac098.pdf
    Citation Count: 24
  • Measuring Parkinson's disease over time: The real‐world within‐subject reliability of the MDS‐UPDRS
    2019
    Summary Details
    OPEN
    Title: Measuring Parkinson's disease over time: The real‐world within‐subject reliability of the MDS‐UPDRS
    Author(s): Luc J. W. Evers, Jesse H. Krijthe, Marjan J. Meinders, Bastiaan R. Bloem, Tom Heskes
    Journal Name: Movement Disorders
    Publisher: Wiley
    Vol: 34
    Issue #: 10
    Start Page: 1480
    End Page: 1487
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by
    DOI - Digital Object Identifier: 10.1002/mds.27790
    Best OA location URL: https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/mds.27790
    Citation Count: 202
  • Higher Urine bis(Monoacylglycerol)Phosphate Levels in LRRK2 G2019S Mutation Carriers: Implications for Therapeutic Development
    2019
    Summary Details
    OPEN
    Title: Higher Urine bis(Monoacylglycerol)Phosphate Levels in LRRK2 G2019S Mutation Carriers: Implications for Therapeutic Development
    Author(s): Roy N. Alcalay, F. Hsieh, Elizabeth Tengstrand, Shalini Padmanabhan, Marco A. S. Baptista, Caitlin M. Kehoe, Sushma Narayan, Amelia K. Boehme, Kalpana Merchant
    Journal Name: Movement Disorders
    Publisher: Wiley
    Vol: 35
    Issue #: 1
    Start Page: 134
    End Page: 141
    Publication Date:
    Open Access(OA) Status: OPEN
    License: cc-by-nc-nd
    DOI - Digital Object Identifier: 10.1002/mds.27818
    Best OA location URL: https://doi.org/10.1002/mds.27818
    Citation Count: 82
  • Genomewide association study of Parkinson's disease clinical biomarkers in 12 longitudinal patients' cohorts
    2019
    Summary Details
    OPEN
    Title: Genomewide association study of Parkinson's disease clinical biomarkers in 12 longitudinal patients' cohorts
    Author(s): Hirotaka Iwaki, Cornelis Blauwendraat, Hampton L. Leonard, Jonggeol J. Kim, Ganqiang Liu, Jodi Maple‐Grødem, Jean‐Christophe Corvol, Lasse Pihlstrøm, Marlies van Nimwegen, Samantha J. Hutten, Khanh‐Dung H. Nguyen, Jacqueline Rick, Shirley Eberly, Faraz Faghri, Peggy Auinger, Kirsten M. Scott, Ruwani Wijeyekoon, Vivianna M. Van Deerlin, Dena G. Hernandez, J. Raphael Gibbs, Kumaraswamy Naidu Chitrala, Aaron Day-Williams, Alexis Brice, Guido Alves, Alastair J. Noyce, Ole‐Bjørn Tysnes, Jonathan Evans, David P. Breen, Karol Estrada, Claire Wegel, Fabrice Danjou, David K. Simon, Ole A. Andreassen, Bernard Ravina, Mathias Toft, Peter Heutink, Bastiaan R. Bloem, Daniel Weintraub, Roger A. Barker, Caroline H. Williams‐Gray, Bart P. van de Warrenburg, Jacobus J. van Hilten, Clemens R. Scherzer, Andrew Singleton, Mike A. Nalls
    Journal Name: Movement Disorders
    Publisher: Wiley
    Vol: 34
    Issue #: 12
    Start Page: 1839
    End Page: 1850
    Publication Date:
    Open Access(OA) Status: OPEN
    License:
    DOI - Digital Object Identifier: 10.1002/mds.27845
    Best OA location URL: http://hdl.handle.net/20.500.11820/51a559a5-38a4-4a09-a501-6c78ddefb3fd
    Citation Count: 188
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