MJFF Publications

Excessive burden of lysosomal storage disorder gene variants in Parkinson’s disease

2017

OPEN

Title: Excessive burden of lysosomal storage disorder gene variants in Parkinson’s disease

Author(s): Laurie Robak, Iris E. Jansen, Jeroen van Rooij, André G. Uitterlinden, Robert Kraaij, Joseph Jankovic, Peter Heutink, Joshua Shulman, Mike A. Nalls, Vincent Plagnol, Dena G Hernandez, Manu Sharma, Una‐Marie Sheerin, Mohamad Saad, Javier Simón‐Sánchez, Claudia Schulte, Suzanne Lesage, Sigurlaug Sveinbjörnsdóttir, Sampath Arepalli, Roger A. Barker, Yoav Ben-, Henk W. Berendse, Daniela Berg, Kailash P. Bhatia, Rob M.A. de Bie, Alessandro Biffi, Bas R. Bloem, Zoltán Bochdanovits, Michael Bonin, José Brás, Kathrin Brockmann, Janet Brooks, David J. Burn, Elisa Majounie, Gavin Charlesworth, Codrin Lungu, Honglei Chen, Patrick F. Chinnery, Sean Chong, Carl E Clarke, Mark Cookson, Jonathan M. Cooper, Jean‐Christophe Corvol, Carl Counsell, Philippe Damier, Jean‐François Dartigues, Panos Deloukas, Günther Deuschl, David T. Dexter, Karin D. van Dijk, Allissa Dillman, F. Durif, Alexandra Dürr, Sarah Edkins, Jonathan Evans, Thomas Foltynie, Jing Dong, Michelle Gardner, J. Raphael Gibbs, Alison Goate, Emma Gray, Rita Guerreiro, Clare Harris, Jacobus J. van Hilten, Albert Hofman, Albert R. Hollenbeck, Janice L. Holton, Joshua Shulman, Joshua Shulman, Isabel Wurster, Walter Mätzler, Gavin Hudson, Sarah Hunt, Johanna Huttenlocher, Thomas Illig, Pálmi V. Jónsson, Jean‐Charles Lambert, Cordelia Langford, Andrew J. Lees, Peter Lichtner, Patricia Limousin, Grisel Lopez, Delia Lorenz, Codrin Lungu, Alisdair McNeill, Catriona Moorby, Matthew Moore, Huw R. Morris, Karen Morrison, Valentina Escott‐Price, Ese Mudanohwo, Sean S. O’Sullivan, Justin Pearson, Joel S. Perlmutter, Hjörvar Pétursson, Pierre Pollak, Bart Post, Simon Potter, Bernard Ravina, Tamás Révész, Olaf Rieß, Fernando Rivadeneira, Patrizia Rizzu, Mina Ryten, Stephen Sawcer, Anthony H.V. Schapira, Hans Scheffer, Karen Shaw, Ira Shoulson, Joshua Shulman, Ellen Sidransky, Colin Smith, Chris C. A. Spencer, Hreinn Stefánsson, Francesco Bettella, Joanna D. Stockton, Amy Strange, Kevin Talbot, Carlie M. Tanner, Avazeh Tashakkori-Ghanbaria, François Tison, Daniah Trabzuni, Bryan J. Traynor, André G. Uitterlinden, Daan C. Velseboer, Marie Vidailhet, Robert Walker, Bart van de Warrenburg, Mirdhu Wickremaratchi, Nigel Williams, Caroline H. Williams‐Gray, Sophie Winder‐Rhodes, Kāri Stefánsson, María Martínez, Nicholas Wood, John Hardy, Peter Heutink, Alexis Brice, Thomas Gasser, Andrew Singleton

Journal Name: Brain

Publisher: Oxford University Press (OUP)

Vol: 140

Issue #: 12

Start Page: 3191

End Page: 3203

Publication Date: 2017-10-12

Open Access(OA) Status: OPEN

License:

DOI - Digital Object Identifier: 10.1093/brain/awx285

Best OA location URL: https://academic.oup.com/brain/article-pdf/140/12/3191/24174748/awx285.pdf

Citation Count: 401

Correlation of Plasma EGF with Striatal Dopamine Transporter Availability in Healthy Subjects

2017

OPEN

Title: Correlation of Plasma EGF with Striatal Dopamine Transporter Availability in Healthy Subjects

Author(s): Kyoungjune Pak, Seunghyeon Shin, So Jung Kim, Keunyoung Kim, Bum‐Soo Kim, Seong‐Jang Kim, In Joo Kim

Journal Name: Scientific Reports

Publisher: Springer Science and Business Media LLC

Vol: 7

Issue #: 1

Start Page:

End Page:

Publication Date: 2017-10-10

Open Access(OA) Status: OPEN

License: cc-by

DOI - Digital Object Identifier: 10.1038/s41598-017-13771-9

Best OA location URL: https://www.nature.com/articles/s41598-017-13771-9.pdf

Citation Count: 0

The End Is the Beginning: Parkinson’s Disease in the Light of Brain Imaging

2017

OPEN

Title: The End Is the Beginning: Parkinson’s Disease in the Light of Brain Imaging

Author(s): Arianna Bellucci, Angelo Antonini, Marina Pizzi, PierFranco Spano

Journal Name: Frontiers in Aging Neuroscience

Publisher: Frontiers Media SA

Vol: 9

Issue #:

Start Page:

End Page:

Publication Date: 2017-10-10

Open Access(OA) Status: OPEN

License: cc-by

DOI - Digital Object Identifier: 10.3389/fnagi.2017.00330

Best OA location URL: https://www.frontiersin.org/articles/10.3389/fnagi.2017.00330/pdf

Citation Count: 34

Traumatic brain injury in the prodromal period of Parkinson's disease: A large epidemiological study using medicare data

2017

OPEN

Title: Traumatic brain injury in the prodromal period of Parkinson's disease: A large epidemiological study using medicare data

Author(s): Alejandra Camacho‐Soto, Mark N. Warden, Susan Searles Nielsen, Amber Salter, David L. Brody, Heidi Prather, Brad A. Racette

Journal Name: Annals of Neurology

Publisher: Wiley

Vol: 82

Issue #: 5

Start Page: 744

End Page: 754

Publication Date: 2017-10-10

Open Access(OA) Status: OPEN

License:

DOI - Digital Object Identifier: 10.1002/ana.25074

Best OA location URL: https://europepmc.org/articles/pmc5812286?pdf=render

Citation Count: 44

Failure of Sequential Pallidal and Motor Thalamus DBS for Rapid‐Onset Dystonia‐Parkinsonism (DYT12)

2017

OPEN

Title: Failure of Sequential Pallidal and Motor Thalamus DBS for Rapid‐Onset Dystonia‐Parkinsonism (DYT12)

Author(s): Conor Fearon, John McKinley, Allan McCarthy, Pedro Rebelo, Carole Goggin, Brian Magennis, Tipu Z. Aziz, Alexander L. Green, Timothy Lynch

Journal Name: Movement Disorders Clinical Practice

Publisher: Wiley

Vol: 5

Issue #: 4

Start Page: 444

End Page: 445

Publication Date: 2017-10-09

Open Access(OA) Status: OPEN

License:

DOI - Digital Object Identifier: 10.1002/mdc3.12559

Best OA location URL: https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/mdc3.12559

Citation Count: 11

Baseline prevalence and longitudinal evolution of non-motor symptoms in early Parkinson’s disease: the PPMI cohort

2017

OPEN

Title: Baseline prevalence and longitudinal evolution of non-motor symptoms in early Parkinson’s disease: the PPMI cohort

Author(s): Tanya Simuni, Chelsea Caspell‐Garcia, Christopher S. Coffey, Daniel Weintraub, Brit Mollenhauer, Shirley Lasch, Caroline M. Tanner, Danna Jennings, Karl Kieburtz, Lana M. Chahine, Kenneth Marek

Journal Name: Journal of Neurology, Neurosurgery & Psychiatry

Publisher: BMJ

Vol: 89

Issue #: 1

Start Page: 78

End Page: 88

Publication Date: 2017-10-06

Open Access(OA) Status: OPEN

License: cc-by-nc

DOI - Digital Object Identifier: 10.1136/jnnp-2017-316213

Best OA location URL: https://jnnp.bmj.com/content/jnnp/89/1/78.full.pdf

Citation Count: 104

Network Structure and Function in Parkinson’s Disease

2017

OPEN

Title: Network Structure and Function in Parkinson’s Disease

Author(s): Ji Hyun Ko, Phoebe Spetsieris, David Eidelberg

Journal Name: Cerebral Cortex

Publisher: Oxford University Press (OUP)

Vol:

Issue #:

Start Page: 1

End Page: 15

Publication Date: 2017-10-06

Open Access(OA) Status: OPEN

License:

DOI - Digital Object Identifier: 10.1093/cercor/bhx267

Best OA location URL: https://academic.oup.com/cercor/article-pdf/28/12/4121/26338731/bhx267.pdf

Citation Count: 54

Pedestrian safety in patients with Parkinson's disease: A case‐control study

2017

OPEN

Title: Pedestrian safety in patients with Parkinson's disease: A case‐control study

Author(s): Kristin J. Ford, Allen Joop, Raima Memon, Kimberly H. Wood, Karlene Ball, Gary Cutter, David C. Schwebel, Amy W. Amara

Journal Name: Movement Disorders

Publisher: Wiley

Vol: 32

Issue #: 12

Start Page: 1748

End Page: 1755

Publication Date: 2017-10-04

Open Access(OA) Status: OPEN

License:

DOI - Digital Object Identifier: 10.1002/mds.27124

Best OA location URL: https://europepmc.org/articles/pmc5732050?pdf=render

Citation Count: 8

Genetic variants affecting equivalent protein family positions reflect human diversity

2017

OPEN

Title: Genetic variants affecting equivalent protein family positions reflect human diversity

Author(s): Francesco Raimondi, Matthew J. Betts, Qianhao Lu, Asuka Inoue, J. Silvio Gutkind, Robert B. Russell

Journal Name: Scientific Reports

Publisher: Springer Science and Business Media LLC

Vol: 7

Issue #: 1

Start Page:

End Page:

Publication Date: 2017-10-02

Open Access(OA) Status: OPEN

License: cc-by

DOI - Digital Object Identifier: 10.1038/s41598-017-12971-7

Best OA location URL: https://www.nature.com/articles/s41598-017-12971-7.pdf

Citation Count: 10

18F‐flortaucipir tau positron emission tomography distinguishes established progressive supranuclear palsy from controls and Parkinson disease: A multicenter study

2017

OPEN

Title: 18F‐flortaucipir tau positron emission tomography distinguishes established progressive supranuclear palsy from controls and Parkinson disease: A multicenter study

Author(s): Daniel R. Schonhaut, Corey T. McMillan, Salvatore Spina, Bradford C. Dickerson, Andrew Siderowf, Michael D. Devous, Richard Tsai, Joseph R. Winer, David Russell, Irene Litvan, Erik D. Roberson, William W. Seeley, Lea T. Grinberg, Joel H. Kramer, Bruce L. Miller, Peter Pressman, Ilya M. Nasrallah, Suzanne L. Baker, Stephen N. Gomperts, Keith A. Johnson, Murray Grossman, William J. Jagust, Adam L. Boxer, Gil D. Rabinovici

Journal Name: Annals of Neurology

Publisher: Wiley

Vol: 82

Issue #: 4

Start Page: 622

End Page: 634

Publication Date: 2017-10-01

Open Access(OA) Status: OPEN

License:

DOI - Digital Object Identifier: 10.1002/ana.25060

Best OA location URL: https://escholarship.org/content/qt01j9450z/qt01j9450z.pdf?t=p9ufqp

Citation Count: 158

Hexokinases link DJ-1 to the PINK1/parkin pathway

2017

OPEN

Title: Hexokinases link DJ-1 to the PINK1/parkin pathway

Author(s): David N. Hauser, Adamantios Mamais, Melissa M. Conti, Christopher T. Primiani, Ravindran Kumaran, Allissa Dillman, Rebekah G. Langston, Alexandra Beilina, Joseph H. Garcia, Alberto Díaz‐Ruiz, Michel Bernier, Fabienne C. Fiesel, Xu Hou, Wolfdieter Springer, Yan Li, Rafael de Cabo, Mark Cookson

Journal Name: Molecular Neurodegeneration

Publisher: Springer Science and Business Media LLC

Vol: 12

Issue #: 1

Start Page:

End Page:

Publication Date: 2017-09-29

Open Access(OA) Status: OPEN

License: cc0

DOI - Digital Object Identifier: 10.1186/s13024-017-0212-x

Best OA location URL: https://molecularneurodegeneration.biomedcentral.com/track/pdf/10.1186/s13024-017-0212-x

Citation Count: 99

Patients’ Opinions on Genetic Counseling on the Increased Risk of Parkinson Disease among Gaucher Disease Carriers

2017

OPEN

Title: Patients’ Opinions on Genetic Counseling on the Increased Risk of Parkinson Disease among Gaucher Disease Carriers

Author(s): Maureen Mulhern, Louise Bier, Roy N. Alcalay, Manisha Balwani

Journal Name: Journal of Genetic Counseling

Publisher: Wiley

Vol: 27

Issue #: 3

Start Page: 675

End Page: 680

Publication Date: 2017-09-29

Open Access(OA) Status: OPEN

License:

DOI - Digital Object Identifier: 10.1007/s10897-017-0161-0

Best OA location URL: https://europepmc.org/articles/pmc5878114?pdf=render

Citation Count: 20

Microstructural network alterations of olfactory dysfunction in newly diagnosed Parkinson’s disease

2017

OPEN

Title: Microstructural network alterations of olfactory dysfunction in newly diagnosed Parkinson’s disease

Author(s): Ming‐Ching Wen, Zheyu Xu, Zhonghao Lu, Ling Ling Chan, Eng King Tan, Louis C.S. Tan

Journal Name: Scientific Reports

Publisher: Springer Science and Business Media LLC

Vol: 7

Issue #: 1

Start Page:

End Page:

Publication Date: 2017-09-26

Open Access(OA) Status: OPEN

License: cc-by

DOI - Digital Object Identifier: 10.1038/s41598-017-12947-7

Best OA location URL: https://www.nature.com/articles/s41598-017-12947-7.pdf

Citation Count: 21

Regional analysis and genetic association of nigrostriatal degeneration in Lewy body disease

2017

OPEN

Title: Regional analysis and genetic association of nigrostriatal degeneration in Lewy body disease

Author(s): Koji Kasanuki, Michael G. Heckman, Nancy N. Diehl, Melissa E. Murray, Shunsuke Koga, Alexandra I. Soto, Owen A. Ross, Dennis W. Dickson

Journal Name: Movement Disorders

Publisher: Wiley

Vol: 32

Issue #: 11

Start Page: 1584

End Page: 1593

Publication Date: 2017-09-26

Open Access(OA) Status: OPEN

License:

DOI - Digital Object Identifier: 10.1002/mds.27184

Best OA location URL: https://europepmc.org/articles/pmc5915345?pdf=render

Citation Count: 17

Large-scale identification of clinical and genetic predictors of motor progression in patients with newly diagnosed Parkinson's disease: a longitudinal cohort study and validation

2017

OPEN

Title: Large-scale identification of clinical and genetic predictors of motor progression in patients with newly diagnosed Parkinson's disease: a longitudinal cohort study and validation

Author(s): Jeanne C. Latourelle, Michael T. Beste, Tiffany C. Hadzi, Robert E. Miller, Jacob N Oppenheim, Matthew Valko, Diane Wuest, Bruce W. Church, Iya Khalil, Boris Hayete, Charles S. Venuto

Journal Name: The Lancet Neurology

Publisher: Elsevier BV

Vol: 16

Issue #: 11

Start Page: 908

End Page: 916

Publication Date: 2017-09-25

Open Access(OA) Status: OPEN

License:

DOI - Digital Object Identifier: 10.1016/s1474-4422(17)30328-9

Best OA location URL: https://europepmc.org/articles/pmc5693218?pdf=render

Citation Count: 144

Mechanism and regulation of the Lys6-selective deubiquitinase USP30

2017

OPEN

Title: Mechanism and regulation of the Lys6-selective deubiquitinase USP30

Author(s): Malte Gersch, Christina Gladkova, Alexander F. Schubert, Martin A. Michel, Sarah Maslen, David Komander

Journal Name: Nature Structural & Molecular Biology

Publisher: Springer Science and Business Media LLC

Vol: 24

Issue #: 11

Start Page: 920

End Page: 930

Publication Date: 2017-09-25

Open Access(OA) Status: OPEN

License:

DOI - Digital Object Identifier: 10.1038/nsmb.3475

Best OA location URL: https://europepmc.org/articles/pmc5757785?pdf=render

Citation Count: 195

Par3 and aPKC regulate BACE1 endosome-to-TGN trafficking through PACS1

2017

OPEN

Title: Par3 and aPKC regulate BACE1 endosome-to-TGN trafficking through PACS1

Author(s): Miao Sun, Huaye Zhang

Journal Name: Neurobiology of Aging

Publisher: Elsevier BV

Vol: 60

Issue #:

Start Page: 129

End Page: 140

Publication Date: 2017-09-22

Open Access(OA) Status: OPEN

License:

DOI - Digital Object Identifier: 10.1016/j.neurobiolaging.2017.08.024

Best OA location URL: https://europepmc.org/articles/pmc5653456?pdf=render

Citation Count: 24

Progression of MDS‐UPDRS Scores Over Five Years in De Novo Parkinson Disease from the Parkinson's Progression Markers Initiative Cohort

2017

OPEN

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: 2017-09-22

Open Access(OA) Status: OPEN

License:

DOI - Digital Object Identifier: 10.1002/mdc3.12553

Best OA location URL: https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/mdc3.12553

Citation Count: 160

Ubiquitin Linkage-Specific Affimers Reveal Insights into K6-Linked Ubiquitin Signaling

2017

OPEN

Title: Ubiquitin Linkage-Specific Affimers Reveal Insights into K6-Linked Ubiquitin Signaling

Author(s): Martin A. Michel, Kirby N. Swatek, Manuela K. Hospenthal, David Komander

Journal Name: Molecular Cell

Publisher: Elsevier BV

Vol: 68

Issue #: 1

Start Page: 233

End Page: 246.e5

Publication Date: 2017-09-21

Open Access(OA) Status: OPEN

License: cc-by

DOI - Digital Object Identifier: 10.1016/j.molcel.2017.08.020

Best OA location URL: http://www.cell.com/article/S1097276517306172/pdf

Citation Count: 174

Initial elevations in glutamate and dopamine neurotransmission decline with age, as does exploratory behavior, in LRRK2 G2019S knock-in mice

2017

OPEN

Title: Initial elevations in glutamate and dopamine neurotransmission decline with age, as does exploratory behavior, in LRRK2 G2019S knock-in mice

Author(s): Mattia Volta, Dayne Beccano-Kelly, Sarah A. Paschall, Stefano Cataldi, Sarah E MacIsaac, Naila Kuhlmann, Chelsie Kadgien, Igor Tatarnikov, Jesse D. Fox, Jaskaran Khinda, Emma Mitchell, Sabrina Bergeron, Heather L. Melrose, Matthew J. Farrer, Austen J. Milnerwood

Journal Name: eLife

Publisher: eLife Sciences Publications, Ltd

Vol: 6

Issue #:

Start Page:

End Page:

Publication Date: 2017-09-20

Open Access(OA) Status: OPEN

License: cc-by

DOI - Digital Object Identifier: 10.7554/elife.28377

Best OA location URL: https://doi.org/10.7554/elife.28377

Citation Count: 95

TrkB neurotrophic activities are blocked by α-synuclein, triggering dopaminergic cell death in Parkinson’s disease

2017

OPEN

Title: TrkB neurotrophic activities are blocked by α-synuclein, triggering dopaminergic cell death in Parkinson’s disease

Author(s): Seong Su Kang, Zhentao Zhang, Xia Liu, Fredric P. Manfredsson, Matthew J. Benskey, Xuebing Cao, Jun Xu, Yi Sun, Keqiang Ye

Journal Name: Proceedings of the National Academy of Sciences

Publisher: Proceedings of the National Academy of Sciences

Vol: 114

Issue #: 40

Start Page: 10773

End Page: 10778

Publication Date: 2017-09-18

Open Access(OA) Status: OPEN

License:

DOI - Digital Object Identifier: 10.1073/pnas.1713969114

Best OA location URL: https://www.pnas.org/content/pnas/114/40/10773.full.pdf

Citation Count: 108

A Nigro−Vagal Pathway Controls Gastric Motility and Is Affected in a Rat Model of Parkinsonism

2017

OPEN

Title: A Nigro−Vagal Pathway Controls Gastric Motility and Is Affected in a Rat Model of Parkinsonism

Author(s): Laura Anselmi, Luca Toti, Cecilia Bove, Jessica P. Hampton, R. Alberto Travagli

Journal Name: Gastroenterology

Publisher: Elsevier BV

Vol: 153

Issue #: 6

Start Page: 1581

End Page: 1593

Publication Date: 2017-09-11

Open Access(OA) Status: OPEN

License:

DOI - Digital Object Identifier: 10.1053/j.gastro.2017.08.069

Best OA location URL: https://europepmc.org/articles/pmc5705565?pdf=render

Citation Count: 97

Parkinson's disease susceptibility variants and severity of Lewy body pathology

2017

OPEN

Title: Parkinson's disease susceptibility variants and severity of Lewy body pathology

Author(s): Michael G. Heckman, Koji Kasanuki, Nancy N. Diehl, Shunsuke Koga, Alexandra I. Soto, Melissa E. Murray, Dennis W. Dickson, Owen A. Ross

Journal Name: Parkinsonism & Related Disorders

Publisher: Elsevier BV

Vol: 44

Issue #:

Start Page: 79

End Page: 84

Publication Date: 2017-09-11

Open Access(OA) Status: OPEN

License:

DOI - Digital Object Identifier: 10.1016/j.parkreldis.2017.09.009

Best OA location URL: https://europepmc.org/articles/pmc5716921?pdf=render

Citation Count: 17

Dopamine oxidation mediates mitochondrial and lysosomal dysfunction in Parkinson’s disease

2017

OPEN

Title: Dopamine oxidation mediates mitochondrial and lysosomal dysfunction in Parkinson’s disease

Author(s): Lena F. Burbulla, Pingping Song, Joseph R. Mazzulli, Enrico Zampese, Yvette C. Wong, Sohee Jeon, David P. Santos, Judith Blanz, Carolin D. Obermaier, Chelsee Strojny, Jeffrey N. Savas, Evangelos Kiskinis, Xiaoxi Zhuang, Rejko Krüger, D. James Surmeier, Dimitri Krainc

Journal Name: Science

Publisher: American Association for the Advancement of Science (AAAS)

Vol: 357

Issue #: 6357

Start Page: 1255

End Page: 1261

Publication Date: 2017-09-08

Open Access(OA) Status: OPEN

License:

DOI - Digital Object Identifier: 10.1126/science.aam9080

Best OA location URL: https://science.sciencemag.org/content/sci/357/6357/1255.full.pdf

Citation Count: 704

Improved diagnosis of Parkinson's disease from a detailed olfactory phenotype

2017

OPEN

Title: Improved diagnosis of Parkinson's disease from a detailed olfactory phenotype

Author(s): Richard C. Gerkin, Charles H. Adler, Joseph G. Hentz, Holly A. Shill, Erika Driver‐Dunckley, Shyamal H. Mehta, Marwan N. Sabbagh, John N. Caviness, Brittany N. Dugger, Geidy E. Serrano, Christine M. Belden, Brian H. Smith, Lucia I. Sue, Kathryn Davis, Edward Zamrini, Thomas G. Beach

Journal Name: Annals of Clinical and Translational Neurology

Publisher: Wiley

Vol: 4

Issue #: 10

Start Page: 714

End Page: 721

Publication Date: 2017-09-08

Open Access(OA) Status: OPEN

License: cc-by-nc-nd

DOI - Digital Object Identifier: 10.1002/acn3.447

Best OA location URL: https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/acn3.447

Citation Count: 15

Animations

MJFF Publications