MJFF Publications

3801 - 3825 of 7785 Results

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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
Gene expression within the periaqueductal gray is linked to vocal behavior and early-onset parkinsonism in Pink1 knockout rats
2020

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Title: Gene expression within the periaqueductal gray is linked to vocal behavior and early-onset parkinsonism in Pink1 knockout rats

Author(s): Cynthia A. Kelm‐Nelson, Stephen C. Gammie

Journal Name: BMC Genomics

Publisher: Springer Science and Business Media LLC

Vol: 21

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/s12864-020-07037-4

Best OA location URL: https://bmcgenomics.biomedcentral.com/track/pdf/10.1186/s12864-020-07037-4

Citation Count: 15
Post-mortem ventricular cerebrospinal fluid cell-free-mtDNA in neurodegenerative disease
2020

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Title: Post-mortem ventricular cerebrospinal fluid cell-free-mtDNA in neurodegenerative disease

Author(s): Hannah Lowes, Marzena Kurzawa‐Akanbi, Angela Pyle, Gavin Hudson

Journal Name: Scientific Reports

Publisher: Springer Science and Business Media LLC

Vol: 10

Issue #: 1

Start Page:

End Page:

Publication Date: 2020-09-17

Open Access(OA) Status: RESTRICTED

License: cc-by, cc-by

DOI - Digital Object Identifier: 10.1038/s41598-020-72190-5

Best OA location URL: https://www.nature.com/articles/s41598-020-72190-5.pdf

Citation Count: 18
Automated Analysis of Diffusion‐Weighted Magnetic Resonance Imaging for the Differential Diagnosis of Multiple System Atrophy from Parkinson's Disease
2020

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Title: Automated Analysis of Diffusion‐Weighted Magnetic Resonance Imaging for the Differential Diagnosis of Multiple System Atrophy from Parkinson's Disease

Author(s): Florian Krismer, Vincent Beliveau, Klaus Seppi, Christoph Mueller, Hans H. Goebel, Elke R. Gizewski, Gregor K. Wenning, Werner Poewe, Christoph Scherfler

Journal Name: Movement Disorders

Publisher: Wiley

Vol: 36

Issue #: 1

Start Page: 241

End Page: 245

Publication Date: 2020-09-16

Open Access(OA) Status: RESTRICTED

License: cc-by

DOI - Digital Object Identifier: 10.1002/mds.28281

Best OA location URL: https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/mds.28281

Citation Count: 16
Connecting Viral Pandemics to Ecological Population Growth Models
2020

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Title: Connecting Viral Pandemics to Ecological Population Growth Models

Author(s): Parks Collins, Paul Strode

Journal Name:

Publisher:

Vol:

Issue #:

Start Page:

End Page:

Publication Date: 2020-09-16

Open Access(OA) Status: RESTRICTED

License:

DOI - Digital Object Identifier: 10.25334/kkgc-w370

Best OA location URL:

Citation Count: 0
Orthostatic hypotension preceding dementia with Lewy bodies by over 15 years: a clinicopathologic case report
2020

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Title: Orthostatic hypotension preceding dementia with Lewy bodies by over 15 years: a clinicopathologic case report

Author(s): Katherine Longardner, Dennis W. Dickson, Irene Litvan

Journal Name: Clinical Autonomic Research

Publisher: Springer Science and Business Media LLC

Vol: 30

Issue #: 6

Start Page: 575

End Page: 577

Publication Date: 2020-09-16

Open Access(OA) Status: RESTRICTED

License:

DOI - Digital Object Identifier: 10.1007/s10286-020-00730-0

Best OA location URL:

Citation Count: 2
Reply to: Nonfatal Drowning in People with Parkinson's Disease
2020

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Title: Reply to: Nonfatal Drowning in People with Parkinson's Disease

Author(s): Anouk Tosserams, Bastiaan R. Bloem, Jorik Nonnekes

Journal Name: Movement Disorders Clinical Practice

Publisher: Wiley

Vol: 7

Issue #: 8

Start Page: 1001

End Page: 1001

Publication Date: 2020-09-16

Open Access(OA) Status: RESTRICTED

License:

DOI - Digital Object Identifier: 10.1002/mdc3.13080

Best OA location URL: https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/mdc3.13080

Citation Count: 1
Assessment of Wearing Off in Parkinson’s disease using objective measurement
2020

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Title: Assessment of Wearing Off in Parkinson’s disease using objective measurement

Author(s): Parisa Farzanehfar, Holly Woodrow, Malcolm Horne

Journal Name: Journal of Neurology

Publisher: Springer Science and Business Media LLC

Vol: 268

Issue #: 3

Start Page: 914

End Page: 922

Publication Date: 2020-09-15

Open Access(OA) Status: RESTRICTED

License:

DOI - Digital Object Identifier: 10.1007/s00415-020-10222-w

Best OA location URL:

Citation Count: 18
Association of specific biotypes in patients with Parkinson disease and disease progression
2020

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Title: Association of specific biotypes in patients with Parkinson disease and disease progression

Author(s): Linbo Wang, Wei Cheng, Edmund T. Rolls, Fuli Dai, Weikang Gong, Jingnan Du, Wei Zhang, Shouyan Wang, Fengtao Liu, Jian Wang, Peter Brown, Jianfeng Feng

Journal Name: Neurology

Publisher: Ovid Technologies (Wolters Kluwer Health)

Vol: 95

Issue #: 11

Start Page:

End Page:

Publication Date: 2020-09-15

Open Access(OA) Status: RESTRICTED

License: cc-by

DOI - Digital Object Identifier: 10.1212/wnl.0000000000010498

Best OA location URL: https://n.neurology.org/content/neurology/95/11/e1445.full.pdf

Citation Count: 26
Dopamine-responsive and dopamine-resistant resting tremor in Parkinson disease
2020

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Title: Dopamine-responsive and dopamine-resistant resting tremor in Parkinson disease

Author(s): Heidemarie Zach, Michiel F. Dirkx, Dominik von Roth, Jaco W. Pasman, Bastiaan R. Bloem, Rick C. Helmich

Journal Name: Neurology

Publisher: Ovid Technologies (Wolters Kluwer Health)

Vol: 95

Issue #: 11

Start Page:

End Page:

Publication Date: 2020-09-15

Open Access(OA) Status: RESTRICTED

License:

DOI - Digital Object Identifier: 10.1212/wnl.0000000000010316

Best OA location URL: https://repository.ubn.ru.nl//bitstream/handle/2066/225949/225949.pdf

Citation Count: 60
The Emerging Role of RHOT1/Miro1 in the Pathogenesis of Parkinson's Disease
2020

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Title: The Emerging Role of RHOT1/Miro1 in the Pathogenesis of Parkinson's Disease

Author(s): Dajana Großmann, Clara Berenguer-Escuder, Axel Chemla, Giuseppe Arena, Rejko Krüger

Journal Name: Frontiers in Neurology

Publisher: Frontiers Media SA

Vol: 11

Issue #:

Start Page:

End Page:

Publication Date: 2020-09-15

Open Access(OA) Status: RESTRICTED

License: cc-by

DOI - Digital Object Identifier: 10.3389/fneur.2020.00587

Best OA location URL: https://www.frontiersin.org/articles/10.3389/fneur.2020.00587/pdf

Citation Count: 32
A Comparative Photophysical Study of Structural Modifications of Thioflavin T-Inspired Fluorophores
2020

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Title: A Comparative Photophysical Study of Structural Modifications of Thioflavin T-Inspired Fluorophores

Author(s): Lisa-Maria Needham, Judith Weber, Colin M. Pearson, T. Dung, Felix Gorka, Guanpeng Lyu, Sarah E. Bohndiek, Thomas N. Snaddon, Steven F. Lee

Journal Name: The Journal of Physical Chemistry Letters

Publisher: American Chemical Society (ACS)

Vol: 11

Issue #: 19

Start Page: 8406

End Page: 8416

Publication Date: 2020-09-14

Open Access(OA) Status: RESTRICTED

License:

DOI - Digital Object Identifier: 10.1021/acs.jpclett.0c01549

Best OA location URL: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8741274

Citation Count: 21
Long‐Term Follow‐Up and Evolution of ADCY5 — From a Ballistic to Dystonic Phenotype
2020

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Title: Long‐Term Follow‐Up and Evolution of ADCY5 — From a Ballistic to Dystonic Phenotype

Author(s): Gautam Wali, Gautam Wali, Kishore R. Kumar, Carolyn M. Sue

Journal Name: Movement Disorders Clinical Practice

Publisher: Wiley

Vol: 7

Issue #: 8

Start Page: 985

End Page: 986

Publication Date: 2020-09-14

Open Access(OA) Status: RESTRICTED

License:

DOI - Digital Object Identifier: 10.1002/mdc3.13069

Best OA location URL: https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/mdc3.13069

Citation Count: 4
Protein synthesis is suppressed in sporadic and familial Parkinson’s disease by LRRK2
2020

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Title: Protein synthesis is suppressed in sporadic and familial Parkinson’s disease by LRRK2

Author(s): Prasannakumar Deshpande, Dani Flinkman, Ye Hong, Elena Goltseva, Valentina Siino, Lihua Sun, Sirkku Peltonen, Laura L. Elo, Valtteri Kaasinen, Peter James, Eleanor T. Coffey

Journal Name: The FASEB Journal

Publisher: Wiley

Vol: 34

Issue #: 11

Start Page: 14217

End Page: 14233

Publication Date: 2020-09-14

Open Access(OA) Status: RESTRICTED

License: cc-by-nc-nd

DOI - Digital Object Identifier: 10.1096/fj.202001046r

Best OA location URL: https://faseb.onlinelibrary.wiley.com/doi/pdfdirect/10.1096/fj.202001046R

Citation Count: 19
Use of photoacoustic imaging for monitoring vascular disrupting cancer treatments
2020

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Title: Use of photoacoustic imaging for monitoring vascular disrupting cancer treatments

Author(s): Muhannad N. Fadhel, Sıla Appak Başköy, Yanjie Wang, Eno Hysi, Michael C. Kolios

Journal Name: Journal of Biophotonics

Publisher: Wiley

Vol: 16

Issue #: 4

Start Page:

End Page:

Publication Date: 2020-09-14

Open Access(OA) Status: RESTRICTED

License:

DOI - Digital Object Identifier: 10.1002/jbio.202000209

Best OA location URL:

Citation Count: 17
Association of PICALM with Cognitive Impairment in Parkinson's Disease
2020

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Title: Association of PICALM with Cognitive Impairment in Parkinson's Disease

Author(s): Teresa Periñán‐Tocino, Daniel Macías‐García, Miguel A. Labrador‐Espinosa, Silvia Jesús, Dolores Buiza‐Rueda, Astrid D. Adarmes‐Gómez, Laura Muñoz‐Delgado, Pilar Gómez‐Garre, Pablo Mir

Journal Name: Movement Disorders

Publisher: Wiley

Vol: 36

Issue #: 1

Start Page: 118

End Page: 123

Publication Date: 2020-09-11

Open Access(OA) Status: RESTRICTED

License:

DOI - Digital Object Identifier: 10.1002/mds.28283

Best OA location URL:

Citation Count: 7

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