MJFF Publications

3801 - 3810 of 7785 Results

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Year

Year
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2020

Loss‐of‐Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities
2020

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Title: Loss‐of‐Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities

Author(s): Dora Steel, Michael Zech, Chen Zhao, Katy Barwick, Derek Burke, Diane Demailly, Kishore R. Kumar, Giovanna Zorzi, Nardo Nardocci, Rauan Kaiyrzhanov, Matias Wagner, Arcangela Iuso, Riccardo Berutti, Matej Škorvánek, Ján Necpál, Ryan L. Davis, Sarah Wiethoff, Kshitij Mankad, Sniya Sudhakar, Arianna Ferrini, Suvasini Sharma, Erik‐Jan Kamsteeg, Marina A.J. Tijssen, Corien Verschuuren, Martje E. van Egmond, Joanna M. Flowers, Meriel McEntagart, Arianna Tucci, Philippe Coubes, Bernabé I. Bustos, Paulina González-Latapí, Stephen Tisch, Paul Darveniza, Kathleen M. Gorman, Kathryn J. Peall, Kai Bötzel, Jan Christoph Koch, Tom Fowler, Barbara Plecko, Sylvia Boesch, Bernhard Haslinger, Robert Jech, Barbara Garavaglia, Nicholas Wood, Henry Houlden, Paul Gissen, Steven Lubbe, Carolyn M. Sue, Laura Cif, Niccolò E. Mencacci, Glenn Anderson, Manju A. Kurian, Juliane Winkelmann

Journal Name: Annals of Neurology

Publisher: Wiley

Vol: 88

Issue #: 5

Start Page: 867

End Page: 877

Publication Date: 2020-09-21

Open Access(OA) Status: RESTRICTED

License: cc-by, cc-by

DOI - Digital Object Identifier: 10.1002/ana.25879

Best OA location URL: https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ana.25879

Citation Count: 75
The multi‐faceted role of mitochondria in the pathology of Parkinson’s disease
2020

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Title: The multi‐faceted role of mitochondria in the pathology of Parkinson’s disease

Author(s): Dennison Trinh, Ahmad R. Israwi, Lindsay R. Arathoon, Jacqueline A. Gleave, Joanne E. Nash

Journal Name: Journal of Neurochemistry

Publisher: Wiley

Vol: 156

Issue #: 6

Start Page: 715

End Page: 752

Publication Date: 2020-09-20

Open Access(OA) Status: RESTRICTED

License:

DOI - Digital Object Identifier: 10.1111/jnc.15154

Best OA location URL: https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/jnc.15154

Citation Count: 45
Dopaminergic Retinal Cell Loss and Visual Dysfunction in Parkinson Disease
2020

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Title: Dopaminergic Retinal Cell Loss and Visual Dysfunction in Parkinson Disease

Author(s): Isabel Ortuño‐Lizarán, Xavier Sánchez‐Sáez, Pedro Lax, Geidy E. Serrano, Thomas G. Beach, Charles H. Adler, Nicolás Cuenca

Journal Name: Annals of Neurology

Publisher: Wiley

Vol: 88

Issue #: 5

Start Page: 893

End Page: 906

Publication Date: 2020-09-19

Open Access(OA) Status: RESTRICTED

License:

DOI - Digital Object Identifier: 10.1002/ana.25897

Best OA location URL: https://rua.ua.es/dspace/bitstream/10045/109877/2/Ortuno-Lizaran_etal_2020_AnnNeurol_accepted.pdf

Citation Count: 59
Expanding Data Collection for the MDSGene Database: X‐linked Dystonia‐Parkinsonism as Use Case Example
2020

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Title: Expanding Data Collection for the MDSGene Database: X‐linked Dystonia‐Parkinsonism as Use Case Example

Author(s): Martje G. Pauly, Marta Ruiz López, Ana Westenberger, Gerard Saranza, Norbert Brüggemann, Anne Weißbach, Raymond L. Rosales, Cid Czarina E. Diesta, Roland Dominic G. Jamora, Charles Jourdan Reyes, Harutyun Madoev, Sonja Petkovic, Laurie J. Ozelius, Christine Klein, Aloysius Domingo

Journal Name: Movement Disorders

Publisher: Wiley

Vol: 35

Issue #: 11

Start Page: 1933

End Page: 1938

Publication Date: 2020-09-19

Open Access(OA) Status: RESTRICTED

License: cc-by

DOI - Digital Object Identifier: 10.1002/mds.28289

Best OA location URL: https://movementdisorders.onlinelibrary.wiley.com/doi/pdfdirect/10.1002/mds.28289

Citation Count: 23
Program and Abstracts of the 31st International Symposium on the Autonomic Nervous System
2020

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Title: Program and Abstracts of the 31st International Symposium on the Autonomic Nervous System

Author(s):

Journal Name: Clinical Autonomic Research

Publisher: Springer Science and Business Media LLC

Vol: 30

Issue #: 5

Start Page: 453

End Page: 498

Publication Date: 2020-09-19

Open Access(OA) Status: RESTRICTED

License:

DOI - Digital Object Identifier: 10.1007/s10286-020-00728-8

Best OA location URL: https://link.springer.com/content/pdf/10.1007/s10286-020-00728-8.pdf

Citation Count: 1
RFC1 expansions can mimic hereditary sensory neuropathy with cough and Sjögren syndrome
2020

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Title: RFC1 expansions can mimic hereditary sensory neuropathy with cough and Sjögren syndrome

Author(s): Kishore R. Kumar, Andrea Cortese, Susan E. Tomlinson, Stéphanie Efthymiou, Melina Ellis, Danqing Zhu, Marion Stoll, Natalia Dominik, Stephen Tisch, Michel Tchan, Kathy Wu, Sophie Devery, Penelope J Spring, Simon Hawke, Phillip D Cremer, Karl Ng, Mary M. Reilly, Garth A. Nicholson, Henry Houlden, Marina Kennerson

Journal Name: Brain

Publisher: Oxford University Press (OUP)

Vol: 143

Issue #: 10

Start Page: e82

End Page: e82

Publication Date: 2020-09-19

Open Access(OA) Status: RESTRICTED

License:

DOI - Digital Object Identifier: 10.1093/brain/awaa244

Best OA location URL: https://academic.oup.com/brain/article-pdf/143/10/e82/34032248/awaa244.pdf

Citation Count: 28
A New Day: The Role of Telemedicine in Reshaping Care for Persons With Movement Disorders
2020

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Title: A New Day: The Role of Telemedicine in Reshaping Care for Persons With Movement Disorders

Author(s): E. Ray Dorsey, Bastiaan R. Bloem, Michael S. Okun

Journal Name: Movement Disorders

Publisher: Wiley

Vol: 35

Issue #: 11

Start Page: 1897

End Page: 1902

Publication Date: 2020-09-18

Open Access(OA) Status: RESTRICTED

License:

DOI - Digital Object Identifier: 10.1002/mds.28296

Best OA location URL: https://repository.ubn.ru.nl//bitstream/handle/2066/229724/229724.pdf

Citation Count: 40
The Impact of COVID‐19 on Access to Parkinson's Disease Medication
2020

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Title: The Impact of COVID‐19 on Access to Parkinson's Disease Medication

Author(s): Julia L.Y. Cheong, Zhao Hang Keith Goh, Connie Marras, Caroline M. Tanner, Meike Kasten, Alastair Noyce

Journal Name: Movement Disorders

Publisher: Wiley

Vol: 35

Issue #: 12

Start Page: 2129

End Page: 2133

Publication Date: 2020-09-18

Open Access(OA) Status: RESTRICTED

License: cc-by

DOI - Digital Object Identifier: 10.1002/mds.28293

Best OA location URL: https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/mds.28293

Citation Count: 41
Two Patients with Niemann Pick Disease Type C Diagnosed in the Seventh Decade of Life
2020

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Title: Two Patients with Niemann Pick Disease Type C Diagnosed in the Seventh Decade of Life

Author(s): Melanie Wu, Rita Čėponiené, Ece Bayram, Irene Litvan

Journal Name: Movement Disorders Clinical Practice

Publisher: Wiley

Vol: 7

Issue #: 8

Start Page: 961

End Page: 964

Publication Date: 2020-09-18

Open Access(OA) Status: RESTRICTED

License:

DOI - Digital Object Identifier: 10.1002/mdc3.13085

Best OA location URL: https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/mdc3.13085

Citation Count: 5
Associations of mitochondrial genomic variation with corticobasal degeneration, progressive supranuclear palsy, and neuropathological tau measures
2020

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Title: Associations of mitochondrial genomic variation with corticobasal degeneration, progressive supranuclear palsy, and neuropathological tau measures

Author(s): Rebecca R. Valentino, Nikoleta Tamvaka, Michael G. Heckman, Patrick W. Johnson, Alexandra I. Soto‐Beasley, Ronald L. Walton, Shunsuke Koga, Ryan J. Uitti, Zbigniew K. Wszołek, Dennis W. Dickson, Owen A. Ross

Journal Name: Acta Neuropathologica Communications

Publisher: Springer Science and Business Media LLC

Vol: 8

Issue #: 1

Start Page:

End Page:

Publication Date: 2020-09-17

Open Access(OA) Status: RESTRICTED

License: cc-by

DOI - Digital Object Identifier: 10.1186/s40478-020-01035-z

Best OA location URL: https://actaneurocomms.biomedcentral.com/track/pdf/10.1186/s40478-020-01035-z

Citation Count: 10

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