Title:Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications
Author(s):Viorica Chelban, Henriette Aksnes, Reza Maroofian, Lauren C. LaMonica, Luís Seabra, Anette Siggervåg, Perrine Devic, Hanan E. Shamseldin, Jana Vandrovcová, David Murphy, Anne‐Claire Richard, Olivier Quenez, Antoine Bonnevalle, M. Natalia Zanetti, Rauan Kaiyrzhanov, Vincenzo Salpietro, Stéphanie Efthymiou, Lucía Schottlaender, Heba Morsy, Annarita Scardamaglia, Gerome Breen, Alistair T. Pagnamenta, Ajia Pennavaria, Liv S Krogstad, Åse K. Bekkelund, Alessia Caiella, Nina Glomnes, Kirsten Brønstad, Sandrine Tury, Andres Moreno‐De‐Luca, Anne Boland, Robert Olaso, Jean‐François Deleuze, Mathieu Anheim, Benjamin Cretin, Barbara Vona, Fahad S. Al‐Ajlan, Firdous Abdulwahab, Jean‐Luc Battini, Rojan İpek, Peter Bauer, Giovanni Zifarelli, Serdal Güngör, Semra Hız Kurul, Hanns Lochmüller, Sahar I. Da’as, Khalid A. Fakhro, Alicia Gómez-Pascual, Juan A. Botía, Nicholas Wood, Rita Horváth, Andreas M. Ernst, James E. Rothman, Shane McKee, Yanick J. Crow, Fowzan S. Alkuraya, Gaël Nicolas, Thomas Arnesen, Henry Houlden
Journal Name:Nature Communications
Publisher:Springer Science and Business Media LLC
Vol:15
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DOI - Digital Object Identifier:10.1038/s41467-024-46354-0
Title:Disease progression strikingly differs in research and real-world Parkinson’s populations
Author(s):Brett K. Beaulieu‐Jones, Francesca Frau, Sylvie Bozzi, Karen J. Chandross, Michel Peterschmitt, Caroline Cohen, Catherine Coulovrat, Dinesh Kumar, Mark J Kruger, Scott Lipnick, Lane Fitzsimmons, Isaac S. Kohane, Clemens R. Scherzer
Journal Name:npj Parkinson's Disease
Publisher:Springer Science and Business Media LLC
Vol:10
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DOI - Digital Object Identifier:10.1038/s41531-024-00667-5
Title:Comprehensive proteomics of CSF, plasma, and urine identify DDC and other biomarkers of early Parkinson’s disease
Author(s):Jarod Rutledge, Benoit Lehallier, Pardis Zarifkar, Patricia Morán Losada, Marian Shahid, Daniel Western, Priyanka Gorijala, Sephira G. Ryman, Maya Yutsis, Gayle K. Deutsch, Elizabeth C. Mormino, Alexandra N. Trelle, Anthony D. Wagner, Geoffrey A. Kerchner, Lü Tian, Carlos Cruchaga, Victor W. Henderson, Thomas J. Montine, Per Borghammer, Tony Wyss‐Coray, Kathleen L. Poston
Journal Name:Acta Neuropathologica
Publisher:Springer Science and Business Media LLC
Vol:147
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DOI - Digital Object Identifier:10.1007/s00401-024-02706-0
Title:Global age-sex-specific mortality, life expectancy, and population estimates in 204 countries and territories and 811 subnational locations, 1950–2021, and the impact of the COVID-19 pandemic: a comprehensive demographic analysis for the Global Burden of Disease Study 2021
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Journal Name:The Lancet
Publisher:Elsevier BV
Vol:403
Issue #:10440
Start Page:1989
End Page:2056
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Open Access(OA) Status:OPEN
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DOI - Digital Object Identifier:10.1016/s0140-6736(24)00476-8
Title:Correlation of Presynaptic and Postsynaptic Proteins with Pathology in Alzheimer’s Disease
Author(s):Geidy E. Serrano, Jessica E. Walker, Courtney M. Nelson, Michael J. Glass, Richard Arce, Anthony J. Intorcia, Madison P. Cline, Natalie Lana Nabaty, Amanda M. Acuña, Ashton Huppert Steed, Lucia I. Sue, Christine M. Belden, Parichita Choudhury, Eric M. Reiman, Alireza Atri, Thomas G. Beach
Journal Name:International Journal of Molecular Sciences
Publisher:MDPI AG
Vol:25
Issue #:6
Start Page:3130
End Page:3130
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DOI - Digital Object Identifier:10.3390/ijms25063130
Title:The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders
Author(s):Jai Sidpra, Sniya Sudhakar, Asthik Biswas, Flavia Massey, Valentina Turchetti, Tracy Lau, Edward Cook, Javeria Raza Alvi, Hasnaa M. Elbendary, Jerry Jewell, Antonella Riva, Alessandro Orsini, Aglaia Vignoli, Zara Federico, Jessica Rosenblum, An‐Sofie Schoonjans, Matthias De Wachter, Ignacio Delgado Alvarez, Ana Felipe‐Rucián, Nourelhoda A. Haridy, Shahzad Haider, Mashaya Zaman, Selina Banu, Najwa Anwaar, Fatima Rahman, Shazia Maqbool, Rashmi Yadav, Vincenzo Salpietro, Reza Maroofian, Rajan Patel, Rupa Radhakrishnan, Sanjay P. Prabhu, Klaske D. Lichtenbelt, Helen Stewart, Yoshiko Murakami, Ulrike Löbel, Felice D’Arco, Emma Wakeling, Wendy D. Jones, Eleanor Hay, Sanjay Bhate, Thomas S. Jacques, David M. Mirsky, Matthew T. Whitehead, Maha S. Zaki, Tipu Sultan, Pasquale Striano, Anna Jansen, Maarten H. Lequin, Linda S. de Vries, Mariasavina Severino, Andrew C. Edmondson, Lara Menzies, Philippe M. Campeau, Henry Houlden, Amy McTague, Stéphanie Efthymiou, Kshitij Mankad
Journal Name:Brain
Publisher:Oxford University Press (OUP)
Vol:147
Issue #:8
Start Page:2775
End Page:2790
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DOI - Digital Object Identifier:10.1093/brain/awae056
Title:Alternative splicing expands the clinical spectrum of NDUFS6-related mitochondrial disorders
Author(s):Camila Armirola-Ricaurte, N. Zonnekein, Georgios M. Hadjigeorgiou, Silvia Amor-Barris, Ana L. Pelayo‐Negro, Derek Atkinson, Stéphanie Efthymiou, Valentina Turchetti, Argyris Dinopoulos, Antonio García y García, Mert Karakaya, Germán Morís, Ayşe Polat, Uluç Yiş, Carmen Espinós, Liedewei Van de Vondel, Els De Vriendt, Georgia Karadima, Brunhilde Wirth, Michael G. Hanna, Henry Houlden, José Berciano, Albena Jordanova
Journal Name:Genetics in Medicine
Publisher:Elsevier BV
Vol:26
Issue #:6
Start Page:101117
End Page:101117
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DOI - Digital Object Identifier:10.1016/j.gim.2024.101117
Title:Soluble and insoluble lysates from the human A53T mutant α-synuclein transgenic mouse model induces α-synucleinopathy independent of injection site
Author(s):Michael K. Lee, Justin Barnes, Scott Vermilyea, Joyce Meints, Héctor Martínez
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Publisher:Research Square Platform LLC
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DOI - Digital Object Identifier:10.21203/rs.3.rs-3982325/v1
Title:Cholinergic changes in Lewy body disease: implications for presentation, progression and subtypes
Author(s):Niels Okkels, Michel J. Grothe, John‐Paul Taylor, Steen Gregers Hasselbalch, Tatyana D. Fedorova, Karoline Knudsen, Sygrid van der Zee, Teus van Laar, Nicolaas I. Bohnen, Per Borghammer, Jacob Horsager
Journal Name:Brain
Publisher:Oxford University Press (OUP)
Vol:147
Issue #:7
Start Page:2308
End Page:2324
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DOI - Digital Object Identifier:10.1093/brain/awae069
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