MJFF Publications

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LINE-1 retrotransposons drive human neuronal transcriptome complexity and functional diversification
2023

OPEN

Title: LINE-1 retrotransposons drive human neuronal transcriptome complexity and functional diversification

Author(s): Raquel Garza, Diahann A. M. Atacho, Anita Adami, Patricia Gerdes, Meghna Vinod, PingHsun Hsieh, Ofelia Karlsson, Vivien Horváth, Pia A. Johansson, Ninoslav Pandiloski, Jon Matas-Fuentes, Annelies Quaegebeur, Antonina Kouli, Yogita Sharma, Marie E. Jönsson, Emanuela Monni, Elisabet Englund, Evan E. Eichler, Molly Hammell, Roger A. Barker, Zaal Kokaia, Christopher H. Douse, Johan Jakobsson

Journal Name: Science Advances

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

Vol: 9

Issue #: 44

Start Page:

End Page:

Publication Date: 2023-11-01

Open Access(OA) Status: OPEN

License: cc-by-nc, cc-by-nc, cc-by-nc

DOI - Digital Object Identifier: 10.1126/sciadv.adh9543

Best OA location URL: https://www.science.org/doi/pdf/10.1126/sciadv.adh9543?download=true

Citation Count: 19
RTP801 mediates transneuronal toxicity in culture via extracellular vesicles
2023

OPEN

Title: RTP801 mediates transneuronal toxicity in culture via extracellular vesicles

Author(s): Júlia Solana‐Balaguer, Núria Martín‐Flores, Pol Garcia‐Segura, Genís Campoy‐Campos, Leticia Pérez‐Sisqués, Almudena Chicote‐González, Joaquín Fernández‐Irigoyen, Enrique Santamaría, Esther Pérez‐Navarro, Jordi Alberch, Cristina Malagelada

Journal Name: Journal of Extracellular Vesicles

Publisher: Wiley

Vol: 12

Issue #: 11

Start Page:

End Page:

Publication Date: 2023-11-01

Open Access(OA) Status: OPEN

License: cc-by-nc-nd

DOI - Digital Object Identifier: 10.1002/jev2.12378

Best OA location URL: https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/jev2.12378

Citation Count: 1
Shifting the trajectory of therapeutic development for neurological and psychiatric disorders
2023

RESTRICTED

Title: Shifting the trajectory of therapeutic development for neurological and psychiatric disorders

Author(s): Dimitri Krainc, William J. Martin, Bradford Casey, Frances E. Jensen, Sarah A. Tishkoff, William Z. Potter, Steven E. Hyman

Journal Name: Science Translational Medicine

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

Vol: 15

Issue #: 720

Start Page:

End Page:

Publication Date: 2023-11-01

Open Access(OA) Status: RESTRICTED

License:

DOI - Digital Object Identifier: 10.1126/scitranslmed.adg4775

Best OA location URL:

Citation Count: 0
PFTK1 kinase regulates axogenesis during development via RhoA activation
2023

OPEN

Title: PFTK1 kinase regulates axogenesis during development via RhoA activation

Author(s): Yasmilde Rodríguez González, Fatemeh Kamkar, Paymaan Jafar‐Nejad, Suzi Wang, Dianbo Qu, Leticia Sanchez Alvarez, Dina Hawari, Margaret Sonnenfeld, Ruth S. Slack, Paul R. Albert, David S. Park, Alvin Joselin

Journal Name: BMC Biology

Publisher: Springer Science and Business Media LLC

Vol: 21

Issue #: 1

Start Page:

End Page:

Publication Date: 2023-10-31

Open Access(OA) Status: OPEN

License: cc-by

DOI - Digital Object Identifier: 10.1186/s12915-023-01732-w

Best OA location URL: https://bmcbiol.biomedcentral.com/counter/pdf/10.1186/s12915-023-01732-w

Citation Count: 2
Free water imaging unravels unique patterns of longitudinal structural brain changes in Parkinson’s disease subtypes
2023

OPEN

Title: Free water imaging unravels unique patterns of longitudinal structural brain changes in Parkinson’s disease subtypes

Author(s): Abigail E. Bower, Sophia J. Crisomia, Jae Woo Chung, Justin Martello, Roxana G. Burciu

Journal Name: Frontiers in Neurology

Publisher: Frontiers Media SA

Vol: 14

Issue #:

Start Page:

End Page:

Publication Date: 2023-10-30

Open Access(OA) Status: OPEN

License: cc-by

DOI - Digital Object Identifier: 10.3389/fneur.2023.1278065

Best OA location URL: https://www.frontiersin.org/articles/10.3389/fneur.2023.1278065/pdf?isPublishedV2=False

Citation Count: 0
Genetic testing in adults with neurologic disorders: indications, approach, and clinical impacts
2023

RESTRICTED

Title: Genetic testing in adults with neurologic disorders: indications, approach, and clinical impacts

Author(s): Laynie Dratch, Meron Azage, Aaron Baldwin, Kelsey E. Johnson, Rachel Paul, Tanya Bardakjian, Sara-Claude Michon, Defne A. Amado, Michael Baer, Andres Deik, Lauren Elman, Pedro Gonzalez‐Alegre, Michael H. Guo, Ali G. Hamedani, David J. Irwin, Adrian G. Lasker, Jennifer Orthmann‐Murphy, Colin Quinn, Thomas F. Tropea, Steven S. Scherer, Colin A. Ellis

Journal Name: Journal of Neurology

Publisher: Springer Science and Business Media LLC

Vol: 271

Issue #: 2

Start Page: 733

End Page: 747

Publication Date: 2023-10-27

Open Access(OA) Status: RESTRICTED

License:

DOI - Digital Object Identifier: 10.1007/s00415-023-12058-6

Best OA location URL:

Citation Count: 1
Localization of PPM1H phosphatase tunes Parkinson’s disease-linked LRRK2 kinase-mediated Rab GTPase phosphorylation and ciliogenesis
2023

OPEN

Title: Localization of PPM1H phosphatase tunes Parkinson’s disease-linked LRRK2 kinase-mediated Rab GTPase phosphorylation and ciliogenesis

Author(s): Wondwossen M Yeshaw, Ayan Adhikari, Claire Y Chiang, Herschel S. Dhekne, Paulina S. Wawro, Suzanne R. Pfeffer

Journal Name: Proceedings of the National Academy of Sciences

Publisher: Proceedings of the National Academy of Sciences

Vol: 120

Issue #: 44

Start Page:

End Page:

Publication Date: 2023-10-27

Open Access(OA) Status: OPEN

License: cc-by, cc-by

DOI - Digital Object Identifier: 10.1073/pnas.2315171120

Best OA location URL: https://doi.org/10.1073/pnas.2315171120

Citation Count: 7
Saturation mutagenesis of α-synuclein reveals monomer fold that modulates aggregation
2023

OPEN

Title: Saturation mutagenesis of α-synuclein reveals monomer fold that modulates aggregation

Author(s): Julita Chlebowicz, William P. Russ, Dailu Chen, Anthony R. Vega, Steven Vernino, Charles L. White, Josep Rizo, Łukasz A. Joachimiak, Marc I. Diamond

Journal Name: Science Advances

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

Vol: 9

Issue #: 43

Start Page:

End Page:

Publication Date: 2023-10-27

Open Access(OA) Status: OPEN

License: cc-by-nc

DOI - Digital Object Identifier: 10.1126/sciadv.adh3457

Best OA location URL: https://www.science.org/doi/pdf/10.1126/sciadv.adh3457?download=true

Citation Count: 5
The α-synuclein PET tracer [18F] ACI-12589 distinguishes multiple system atrophy from other neurodegenerative diseases
2023

OPEN

Title: The α-synuclein PET tracer [18F] ACI-12589 distinguishes multiple system atrophy from other neurodegenerative diseases

Author(s): Ruben Smith, Francesca Capotosti, Martin Schain, Tomas Ohlsson, Efthymia Vokali, Jérôme Molette, Tanja Touilloux, Valerie Hliva, Ioannis K. Dimitrakopoulos, Andreas Puschmann, Jonas Jögi, Per Svenningsson, Mattias Andréasson, Christine M. Sandiego, David Russell, Patricia Miranda‐Azpiazu, Christer Halldin, Erik Stomrud, Sara Hall, Klas Bratteby, Elina Tampio L’Estrade, Ruth Lüthi-Carter, Andrea Pfeifer, Marie Larsson, Johannes Streffer, Oskar Hansson

Journal Name: Nature Communications

Publisher: Springer Science and Business Media LLC

Vol: 14

Issue #: 1

Start Page:

End Page:

Publication Date: 2023-10-27

Open Access(OA) Status: OPEN

License: cc-by

DOI - Digital Object Identifier: 10.1038/s41467-023-42305-3

Best OA location URL: https://www.nature.com/articles/s41467-023-42305-3.pdf

Citation Count: 19
Bi-allelic truncating variants in CASP2 underlie a neurodevelopmental disorder with lissencephaly
2023

OPEN

Title: Bi-allelic truncating variants in CASP2 underlie a neurodevelopmental disorder with lissencephaly

Author(s): Eyyüp Üçtepe, Barbara Vona, Fatma Nisa Esen, Fatma Müjgan Sönmez, Thomas Smol, Sait Tümer, Hanifenur Mancılar, Dilan Ece Geylan Durgun, Odile Boute, Meysam Moghbeli, Ehsan Ghayoor Karimiani, Narges Hashemi, Pouran Layegh, Hyung Goo Kim, Reza Maroofian, Ahmet Yeşilyurt

Journal Name: European Journal of Human Genetics

Publisher: Springer Science and Business Media LLC

Vol: 32

Issue #: 1

Start Page: 52

End Page: 60

Publication Date: 2023-10-26

Open Access(OA) Status: OPEN

License: cc-by, cc-by

DOI - Digital Object Identifier: 10.1038/s41431-023-01461-2

Best OA location URL: https://www.nature.com/articles/s41431-023-01461-2.pdf

Citation Count: 4
Assessing impulse control behaviors in early Parkinson’s disease: a longitudinal study
2023

OPEN

Title: Assessing impulse control behaviors in early Parkinson’s disease: a longitudinal study

Author(s): Xiaobo Zhu, Jing Gan, Na Wu, Ying Wan, Lu Song, Zhenguo Liu, Yu Zhang

Journal Name: Frontiers in Neurology

Publisher: Frontiers Media SA

Vol: 14

Issue #:

Start Page:

End Page:

Publication Date: 2023-10-25

Open Access(OA) Status: OPEN

License: cc-by

DOI - Digital Object Identifier: 10.3389/fneur.2023.1275170

Best OA location URL: https://www.frontiersin.org/articles/10.3389/fneur.2023.1275170/pdf?isPublishedV2=False

Citation Count: 1
In humans, striato-pallido-thalamic projections are largely segregated by their origin in either the striosome-like or matrix-like compartments
2023

OPEN

Title: In humans, striato-pallido-thalamic projections are largely segregated by their origin in either the striosome-like or matrix-like compartments

Author(s): Agnes P. Funk, Asim A. O. Hassan, Norbert Brüggemann, Nutan Sharma, Hans C. Breiter, Anne J. Blood, Jeff L. Waugh

Journal Name: Frontiers in Neuroscience

Publisher: Frontiers Media SA

Vol: 17

Issue #:

Start Page:

End Page:

Publication Date: 2023-10-25

Open Access(OA) Status: OPEN

License: cc-by

DOI - Digital Object Identifier: 10.3389/fnins.2023.1178473

Best OA location URL: https://www.frontiersin.org/articles/10.3389/fnins.2023.1178473/pdf?isPublishedV2=False

Citation Count: 3
Genome-wide screen reveals Rab12 GTPase as a critical activator of Parkinson’s disease-linked LRRK2 kinase
2023

OPEN

Title: Genome-wide screen reveals Rab12 GTPase as a critical activator of Parkinson’s disease-linked LRRK2 kinase

Author(s): Herschel S. Dhekne, Francesca Tonelli, Wondwossen M Yeshaw, Claire Y Chiang, Charles Limouse, Ebsy Jaimon, Elena Purlyte, Dario R. Alessi, Suzanne R. Pfeffer

Journal Name: eLife

Publisher: eLife Sciences Publications, Ltd

Vol: 12

Issue #:

Start Page:

End Page:

Publication Date: 2023-10-24

Open Access(OA) Status: OPEN

License: cc-by, cc-by

DOI - Digital Object Identifier: 10.7554/elife.87098

Best OA location URL: https://doi.org/10.7554/elife.87098

Citation Count: 21
Original research: initial development of a pragmatic tool to estimate cognitive decline risk focusing on potentially modifiable factors in Parkinson’s disease
2023

OPEN

Title: Original research: initial development of a pragmatic tool to estimate cognitive decline risk focusing on potentially modifiable factors in Parkinson’s disease

Author(s): Tara C. Carlisle, Luis D. Medina, Samantha K. Holden

Journal Name: Frontiers in Neuroscience

Publisher: Frontiers Media SA

Vol: 17

Issue #:

Start Page:

End Page:

Publication Date: 2023-10-24

Open Access(OA) Status: OPEN

License: cc-by

DOI - Digital Object Identifier: 10.3389/fnins.2023.1278817

Best OA location URL: https://www.frontiersin.org/articles/10.3389/fnins.2023.1278817/pdf?isPublishedV2=False

Citation Count: 1
Senescent Schwann cells induced by aging and chronic denervation impair axonal regeneration following peripheral nerve injury
2023

OPEN

Title: Senescent Schwann cells induced by aging and chronic denervation impair axonal regeneration following peripheral nerve injury

Author(s): Andrés Flores, Cristian Gerónimo‐Olvera, Karina do Carmo de Vasconcelos Girardi, David Ñecuñir, Sanjeeva Srivastava, Joanna Bons, Megan C. Wright, Daniel H. Geschwind, Ahmet Höke, Jose A. Gomez‐Sanchez, Birgit Schilling, Daniela L. Rebolledo, Judith Campisi, Felipe A. Court

Journal Name: EMBO Molecular Medicine

Publisher: Springer Science and Business Media LLC

Vol: 15

Issue #: 12

Start Page:

End Page:

Publication Date: 2023-10-20

Open Access(OA) Status: OPEN

License: cc-by

DOI - Digital Object Identifier: 10.15252/emmm.202317907

Best OA location URL: https://onlinelibrary.wiley.com/doi/pdfdirect/10.15252/emmm.202317907

Citation Count: 16
Alzheimer's polygenic risk scores are associated with cognitive phenotypes in Down syndrome
2023

OPEN

Title: Alzheimer's polygenic risk scores are associated with cognitive phenotypes in Down syndrome

Author(s): Priyanka Gorijala, Muhammad Muaaz Aslam, Lam‐Ha Dang, Laura Xicota, María Victoria Fernández, Yun Ju Sung, Kang‐Hsien Fan, Eleanor Feingold, Ezequiel Surace, Jasmeer P. Chhatwal, Christy Hom, Sigan L. Hartley, Jason Hassenstab, Richard J. Perrin, Mark Mapstone, Shahid Zaman, Beau M. Ances, M. Ilyas Kamboh, Joseph H. Lee, Carlos Cruchaga

Journal Name: Alzheimer's & Dementia

Publisher: Wiley

Vol: 20

Issue #: 2

Start Page: 1038

End Page: 1049

Publication Date: 2023-10-19

Open Access(OA) Status: OPEN

License: cc-by-nc-nd

DOI - Digital Object Identifier: 10.1002/alz.13506

Best OA location URL: https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/alz.13506

Citation Count: 2
Dopaminergic denervation and associated MRI microstructural changes in the nigrostriatal projection in early Parkinson’s disease patients
2023

OPEN

Title: Dopaminergic denervation and associated MRI microstructural changes in the nigrostriatal projection in early Parkinson’s disease patients

Author(s): Miguel López‐Aguirre, Michele Matarazzo, Javier Blesa, Mariana H.G. Monje, Rafael Rodríguez‐Rojas, Álvaro Sánchez‐Ferro, José Á. Obeso, José A. Pineda‐Pardo

Journal Name: npj Parkinson's Disease

Publisher: Springer Science and Business Media LLC

Vol: 9

Issue #: 1

Start Page:

End Page:

Publication Date: 2023-10-19

Open Access(OA) Status: OPEN

License: cc-by, cc-by

DOI - Digital Object Identifier: 10.1038/s41531-023-00586-x

Best OA location URL: https://www.nature.com/articles/s41531-023-00586-x.pdf

Citation Count: 5
Structure of LRRK1 and mechanisms of autoinhibition and activation
2023

OPEN

Title: Structure of LRRK1 and mechanisms of autoinhibition and activation

Author(s): Janice M. Reimer, Andrea M. Dickey, Yu Xuan Lin, Robert G. Abrisch, Sebastian Mathea, Deep Chatterjee, Elizabeth J. Fay, Stefan Knapp, Matthew D. Daugherty, Samara L. Reck‐Peterson, Andres E. Leschziner

Journal Name: Nature Structural & Molecular Biology

Publisher: Springer Science and Business Media LLC

Vol: 30

Issue #: 11

Start Page: 1735

End Page: 1745

Publication Date: 2023-10-19

Open Access(OA) Status: OPEN

License: cc-by, cc-by, cc-by

DOI - Digital Object Identifier: 10.1038/s41594-023-01109-1

Best OA location URL: https://www.nature.com/articles/s41594-023-01109-1.pdf

Citation Count: 0
The elephant in the room: critical reflections on mortality rates among individuals with Parkinson’s disease
2023

OPEN

Title: The elephant in the room: critical reflections on mortality rates among individuals with Parkinson’s disease

Author(s): Lisanne J. Dommershuijsen, Sirwan K.L. Darweesh, Yoav Ben‐Shlomo, Benzi M. Kluger, Bastiaan R. Bloem

Journal Name: npj Parkinson's Disease

Publisher: Springer Science and Business Media LLC

Vol: 9

Issue #: 1

Start Page:

End Page:

Publication Date: 2023-10-19

Open Access(OA) Status: OPEN

License: cc-by

DOI - Digital Object Identifier: 10.1038/s41531-023-00588-9

Best OA location URL: https://www.nature.com/articles/s41531-023-00588-9.pdf

Citation Count: 2
Challenges of Parkinson's disease GWASs in African people
2023

RESTRICTED

Title: Challenges of Parkinson's disease GWASs in African people

Author(s): Samia Ben Sassi, Rim Amouri

Journal Name: The Lancet Neurology

Publisher: Elsevier BV

Vol: 22

Issue #: 11

Start Page: 975

End Page: 976

Publication Date: 2023-10-18

Open Access(OA) Status: RESTRICTED

License:

DOI - Digital Object Identifier: 10.1016/s1474-4422(23)00361-7

Best OA location URL:

Citation Count: 0
Inactive S. aureus Cas9 downregulates alpha-synuclein and reduces mtDNA damage and oxidative stress levels in human stem cell model of Parkinson’s disease
2023

OPEN

Title: Inactive S. aureus Cas9 downregulates alpha-synuclein and reduces mtDNA damage and oxidative stress levels in human stem cell model of Parkinson’s disease

Author(s): Danuta Sastre, Faria Zafar, C. Alejandra Morato Torres, Desiree Piper, Deniz Kirik, Laurie H. Sanders, Lei S. Qi, Birgitt Schüle

Journal Name: Scientific Reports

Publisher: Springer Science and Business Media LLC

Vol: 13

Issue #: 1

Start Page:

End Page:

Publication Date: 2023-10-18

Open Access(OA) Status: OPEN

License: cc-by

DOI - Digital Object Identifier: 10.1038/s41598-023-45078-3

Best OA location URL: https://www.nature.com/articles/s41598-023-45078-3.pdf

Citation Count: 3
α-synuclein seed amplification in Parkinson's disease – Authors' reply
2023

RESTRICTED

Title: α-synuclein seed amplification in Parkinson's disease – Authors' reply

Author(s): Andrew Siderowf, Luis Concha‐Marambio, Kenneth Marek, Claudio Soto

Journal Name: The Lancet Neurology

Publisher: Elsevier BV

Vol: 22

Issue #: 11

Start Page: 985

End Page: 986

Publication Date: 2023-10-18

Open Access(OA) Status: RESTRICTED

License:

DOI - Digital Object Identifier: 10.1016/s1474-4422(23)00371-x

Best OA location URL:

Citation Count: 1
MRI-based multivariate gray matter volumetric distance for predicting motor symptom progression in Parkinson's disease
2023

OPEN

Title: MRI-based multivariate gray matter volumetric distance for predicting motor symptom progression in Parkinson's disease

Author(s): Anupa A. Vijayakumari, Hubert H. Fernandez, Benjamin L. Walter

Journal Name: Scientific Reports

Publisher: Springer Science and Business Media LLC

Vol: 13

Issue #: 1

Start Page:

End Page:

Publication Date: 2023-10-17

Open Access(OA) Status: OPEN

License: cc-by

DOI - Digital Object Identifier: 10.1038/s41598-023-44322-0

Best OA location URL: https://www.nature.com/articles/s41598-023-44322-0.pdf

Citation Count: 0
Enablers and challenges of spatial omics, a melting pot of technologies
2023

RESTRICTED

Title: Enablers and challenges of spatial omics, a melting pot of technologies

Author(s): Theodore Alexandrov, Julio Sáez-Rodríguez, Sinem K. Saka

Journal Name: Molecular Systems Biology

Publisher: Springer Science and Business Media LLC

Vol: 19

Issue #: 11

Start Page:

End Page:

Publication Date: 2023-10-16

Open Access(OA) Status: RESTRICTED

License: cc-by

DOI - Digital Object Identifier: 10.15252/msb.202110571

Best OA location URL: https://onlinelibrary.wiley.com/doi/pdfdirect/10.15252/msb.202110571

Citation Count: 8
Identification of high-performing antibodies for Vacuolar protein sorting-associated protein 35 (hVPS35) for use in Western Blot, immunoprecipitation and immunofluorescence
2023

RESTRICTED

Title: Identification of high-performing antibodies for Vacuolar protein sorting-associated protein 35 (hVPS35) for use in Western Blot, immunoprecipitation and immunofluorescence

Author(s): Riham Ayoubi, Maryam Fotouhi, Kathleen Southern, Peter S. McPherson, Carl Laflamme

Journal Name: F1000Research

Publisher: F1000 Research Ltd

Vol: 12

Issue #:

Start Page: 452

End Page: 452

Publication Date: 2023-10-16

Open Access(OA) Status: RESTRICTED

License: cc-by

DOI - Digital Object Identifier: 10.12688/f1000research.133696.2

Best OA location URL: https://f1000research.com/articles/12-452/pdf

Citation Count: 0

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