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  • How to proceed after “negative” exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques
    2022
    Summary Details
    RESTRICTED
    Title: How to proceed after “negative” exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques
    Author(s): Saskia B. Wortmann, Machteld M. Oud, Mariëlle Alders, Karlien L M Coene, Saskia N. van der Crabben, René G. Feichtinger, Alejandro Garanto, A Hoischen, Mirjam Langeveld, Dirk Lefeber, Johannes A. Mayr, Charlotte W. Ockeloen, Holger Prokisch, Richard J. Rodenburg, Hans R. Waterham, Ron A. Wevers, B.P.C. van de Warrenburg, M.A.A.P. Willemsen, Nicole I. Wolf, Peter Lauffer, Clara van Karnebeek
    Journal Name: Journal of Inherited Metabolic Disease
    Publisher: Wiley
    Vol: 45
    Issue #: 4
    Start Page: 663
    End Page: 681
    Publication Date:
    Open Access(OA) Status: RESTRICTED
    License: cc-by-nc-nd
    DOI - Digital Object Identifier: 10.1002/jimd.12507
    Best OA location URL: https://repository.ubn.ru.nl/bitstream/handle/2066/282561/1/282561.pdf
    Citation Count: 20
  • GALC variants affect galactosylceramidase enzymatic activity and risk of Parkinson’s disease
    2022
    Summary Details
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    Title: GALC variants affect galactosylceramidase enzymatic activity and risk of Parkinson’s disease
    Author(s): Konstantin Senkevich, Cornelia E. Zorca, Aliza Dworkind, Uladzislau Rudakou, Emma Somerville, Eric Yu, Aleksey Ermolaev, Daria Nikanorova, Jamil Ahmad, Jennifer A. Ruskey, Farnaz Asayesh, Dan Spiegelman, Stanley Fahn, Cheryl Waters, Oury Monchi, Yves Dauvilliers, Nicolas Dupré, Lior Greenbaum, Sharon Hassin‐Baer, Francis P. Grenn, Ming Sum Ruby Chiang, S. Pablo Sardi, Benoît Vanderperre, Cornelis Blauwendraat, Jean‐François Trempe, Edward A. Fon, Thomas M. Durcan, Roy N. Alcalay, Ziv Gan‐Or
    Journal Name: Brain
    Publisher: Oxford University Press (OUP)
    Vol: 146
    Issue #: 5
    Start Page: 1859
    End Page: 1872
    Publication Date:
    Open Access(OA) Status: RESTRICTED
    License: cc-by-nc
    DOI - Digital Object Identifier: 10.1093/brain/awac413
    Best OA location URL: https://academic.oup.com/brain/article-pdf/146/5/1859/50127735/awac413.pdf
    Citation Count: 11
  • Risk of Chronic Cardiomyopathy Among Patients With the Acute Phase or Indeterminate Form of Chagas Disease
    2020
    Summary Details
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    Title: Risk of Chronic Cardiomyopathy Among Patients With the Acute Phase or Indeterminate Form of Chagas Disease
    Author(s): Sindhu Chadalawada, Stefan Sillau, Solana Archuleta, William Mundo, Mehdi Bandali, Gabriel Parra-Henao, Alfonso J. Rodríguez‐Morales, Wilmer E. Villamil‐Gómez, José Antonio Suárez, Leland Shapiro, Peter J. Hotez, Laila Woc-Colburn, Kristen DeSanto, Anis Rassi, Carlos Franco‐Paredes, Andrés F. Henao‐Martínez
    Journal Name: JAMA Network Open
    Publisher: American Medical Association (AMA)
    Vol: 3
    Issue #: 8
    Start Page: e2015072
    End Page: e2015072
    Publication Date:
    Open Access(OA) Status: RESTRICTED
    License: cc-by-nc-nd
    DOI - Digital Object Identifier: 10.1001/jamanetworkopen.2020.15072
    Best OA location URL: https://jamanetwork.com/journals/jamanetworkopen/articlepdf/2770045/chadalawada_2020_oi_200567_1602703565.56257.pdf
    Citation Count: 50
  • LRRK2 Phosphorylation, More Than an Epiphenomenon
    2020
    Summary Details
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    Title: LRRK2 Phosphorylation, More Than an Epiphenomenon
    Author(s): Antoine Marchand, Matthieu Drouyer, Alessia Sarchione, Marie-Christine Chartier-Harlin, Jean-Marc Taymans
    Journal Name: Frontiers in Neuroscience
    Publisher: Frontiers Media SA
    Vol: 14
    Issue #:
    Start Page:
    End Page:
    Publication Date:
    Open Access(OA) Status: RESTRICTED
    License: cc-by
    DOI - Digital Object Identifier: 10.3389/fnins.2020.00527
    Best OA location URL: https://www.frontiersin.org/articles/10.3389/fnins.2020.00527/pdf
    Citation Count: 41
  • Clinical implications of gastric complications on levodopa treatment in Parkinson's disease
    2020
    Summary Details
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    Title: Clinical implications of gastric complications on levodopa treatment in Parkinson's disease
    Author(s): Ronald F. Pfeiffer, Stuart Isaacson, Rajesh Pahwa
    Journal Name: Parkinsonism & Related Disorders
    Publisher: Elsevier BV
    Vol: 76
    Issue #:
    Start Page: 63
    End Page: 71
    Publication Date:
    Open Access(OA) Status: RESTRICTED
    License: cc-by-nc-nd
    DOI - Digital Object Identifier: 10.1016/j.parkreldis.2020.05.001
    Best OA location URL: http://www.prd-journal.com/article/S1353802020301103/pdf
    Citation Count: 42
  • Excitotoxicity Revisited: Mitochondria on the Verge of a Nervous Breakdown
    2021
    Summary Details
    RESTRICTED
    Title: Excitotoxicity Revisited: Mitochondria on the Verge of a Nervous Breakdown
    Author(s): Nicoletta Plotegher, Riccardo Filadi, Paola Pizzo, Michael R. Duchen
    Journal Name: Trends in Neurosciences
    Publisher: Elsevier BV
    Vol: 44
    Issue #: 5
    Start Page: 342
    End Page: 351
    Publication Date:
    Open Access(OA) Status: RESTRICTED
    License:
    DOI - Digital Object Identifier: 10.1016/j.tins.2021.01.001
    Best OA location URL: https://discovery.ucl.ac.uk/10122786/9/Duchen_071220_Plotegher%20et%20al._final.pdf
    Citation Count: 28
  • The Evolution-Driven Signature of Parkinson’s Disease
    2020
    Summary Details
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    Title: The Evolution-Driven Signature of Parkinson’s Disease
    Author(s): Nico J. Diederich, Toshiki Uchihara, Sten Grillner, Christopher G. Goetz
    Journal Name: Trends in Neurosciences
    Publisher: Elsevier BV
    Vol: 43
    Issue #: 7
    Start Page: 475
    End Page: 492
    Publication Date:
    Open Access(OA) Status: RESTRICTED
    License: cc-by
    DOI - Digital Object Identifier: 10.1016/j.tins.2020.05.001
    Best OA location URL: https://doi.org/10.1016/j.tins.2020.05.001
    Citation Count: 23
  • Multidisciplinary Care to Optimize Functional Mobility in Parkinson Disease
    2020
    Summary Details
    RESTRICTED
    Title: Multidisciplinary Care to Optimize Functional Mobility in Parkinson Disease
    Author(s): Anouk Tosserams, Nienke M. de Vries, Bastiaan R. Bloem, Jorik Nonnekes
    Journal Name: Clinics in Geriatric Medicine
    Publisher: Elsevier BV
    Vol: 36
    Issue #: 1
    Start Page: 159
    End Page: 172
    Publication Date:
    Open Access(OA) Status: RESTRICTED
    License:
    DOI - Digital Object Identifier: 10.1016/j.cger.2019.09.008
    Best OA location URL: https://repository.ubn.ru.nl//bitstream/handle/2066/214080/214080.pdf
    Citation Count: 19
  • BRAF V600E mutation and MET amplification as resistance pathways of the second-generation anaplastic lymphoma kinase (ALK) inhibitor alectinib in lung cancer
    2020
    Summary Details
    RESTRICTED
    Title: BRAF V600E mutation and MET amplification as resistance pathways of the second-generation anaplastic lymphoma kinase (ALK) inhibitor alectinib in lung cancer
    Author(s): Ruoshi Shi, Sebastião N. Martins Filho, Ming Li, Aline Fusco Fares, Jessica Weiss, Nhu-An Pham, Olga Ludkovski, Vibha Raghavan, Quan Li, D. Ravi, Michael Cabanero, Nadeem Moghal, Natasha B. Leighl, Penelope Ann Bradbury, Adrian G. Sacher, Frances A. Shepherd, Kazuhiro Yasufuku, Ming‐Sound Tsao, Geoffrey Liu
    Journal Name: Lung Cancer
    Publisher: Elsevier BV
    Vol: 146
    Issue #:
    Start Page: 78
    End Page: 85
    Publication Date:
    Open Access(OA) Status: RESTRICTED
    License:
    DOI - Digital Object Identifier: 10.1016/j.lungcan.2020.05.018
    Citation Count: 25
  • Disruptions of neurological services, its causes and mitigation strategies during COVID-19: a global review
    2021
    Summary Details
    RESTRICTED
    Title: Disruptions of neurological services, its causes and mitigation strategies during COVID-19: a global review
    Author(s): David García‐Azorín, Katrin Seeher, Charles R. Newton, Njideka Okubadejo, Alessandro Padovani, Deanna Saylor, Andrea Sylvia Winkler, Chahnez Triki, Matilde Leonardi
    Journal Name: Journal of Neurology
    Publisher: Springer Science and Business Media LLC
    Vol: 268
    Issue #: 11
    Start Page: 3947
    End Page: 3960
    Publication Date:
    Open Access(OA) Status: RESTRICTED
    License: cc-by
    DOI - Digital Object Identifier: 10.1007/s00415-021-10588-5
    Best OA location URL: https://link.springer.com/content/pdf/10.1007/s00415-021-10588-5.pdf
    Citation Count: 28
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