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Neuronal STING activation in amyotrophic lateral sclerosis and frontotemporal dementia Acta Neuropathol. (IF 12.7) Pub Date : 2024-03-13 Christine Marques, Aaron Held, Katherine Dorfman, Joon Sung, Catherine Song, Amey S. Kavuturu, Corey Aguilar, Tommaso Russo, Derek H. Oakley, Mark W. Albers, Bradley T. Hyman, Leonard Petrucelli, Clotilde Lagier-Tourenne, Brian J. Wainger
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MSUT2 regulates tau spreading via adenosinergic signaling mediated ASAP1 pathway in neurons Acta Neuropathol. (IF 12.7) Pub Date : 2024-03-12 Hong Xu, Qi Qiu, Peng Hu, Kevt’her Hoxha, Elliot Jang, Mia O’Reilly, Christopher Kim, Zhuohao He, Nicholas Marotta, Lakshmi Changolkar, Bin Zhang, Hao Wu, Gerard D. Schellenberg, Brian Kraemer, Kelvin C. Luk, Edward B. Lee, John Q. Trojanowski, Kurt R. Brunden, Virginia M.-Y. Lee
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Role of GBA variants in Lewy body disease neuropathology Acta Neuropathol. (IF 12.7) Pub Date : 2024-03-12
Abstract Rare and common GBA variants are risk factors for both Parkinson’s disease (PD) and dementia with Lewy bodies (DLB). However, the degree to which GBA variants are associated with neuropathological features in Lewy body disease (LBD) is unknown. Herein, we assessed 943 LBD cases and examined associations of 15 different neuropathological outcomes with common and rare GBA variants. Neuropathological
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Alteration of LARGE1 abundance in patients and a mouse model of 5q-associated spinal muscular atrophy Acta Neuropathol. (IF 12.7) Pub Date : 2024-03-12
Abstract Spinal muscular atrophy (SMA) is a neuromuscular disorder caused by recessive pathogenic variants affecting the survival of motor neuron (SMN1) gene (localized on 5q). In consequence, cells lack expression of the corresponding protein. This pathophysiological condition is clinically associated with motor neuron (MN) degeneration leading to severe muscular atrophy. Additionally, vulnerability
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Comprehensive proteomics of CSF, plasma, and urine identify DDC and other biomarkers of early Parkinson’s disease Acta Neuropathol. (IF 12.7) Pub Date : 2024-03-11
Abstract Parkinson’s disease (PD) starts at the molecular and cellular level long before motor symptoms appear, yet there are no early-stage molecular biomarkers for diagnosis, prognosis prediction, or monitoring therapeutic response. This lack of biomarkers greatly impedes patient care and translational research—l-DOPA remains the standard of care more than 50 years after its introduction. Here, we
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The prevalence and topography of spinal cord demyelination in multiple sclerosis: a retrospective study Acta Neuropathol. (IF 12.7) Pub Date : 2024-03-09 Alex D. Waldman, Cecilia Catania, Marco Pisa, Mark Jenkinson, Michael J. Lenardo, Gabriele C. DeLuca
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Methylation class oligosarcoma, IDH-mutant could exhibit astrocytoma-like molecular features Acta Neuropathol. (IF 12.7) Pub Date : 2024-03-05 Lingyu Liu, Yuqing Liu, Jing Chen, Tao Jiang, Xing Liu, Ke-Nan Zhang
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RNA aptamer reveals nuclear TDP-43 pathology is an early aggregation event that coincides with STMN-2 cryptic splicing and precedes clinical manifestation in ALS Acta Neuropathol. (IF 12.7) Pub Date : 2024-03-05 Holly Spence, Fergal M. Waldron, Rebecca S. Saleeb, Anna-Leigh Brown, Olivia M. Rifai, Martina Gilodi, Fiona Read, Kristine Roberts, Gillian Milne, Debbie Wilkinson, Judi O’Shaughnessy, Annalisa Pastore, Pietro Fratta, Neil Shneider, Gian Gaetano Tartaglia, Elsa Zacco, Mathew H. Horrocks, Jenna M. Gregory
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Astroglial calcium signaling and homeostasis in tuberous sclerosis complex Acta Neuropathol. (IF 12.7) Pub Date : 2024-02-28 Alessia Romagnolo, Giulia Dematteis, Mirte Scheper, Mark J. Luinenburg, Angelika Mühlebner, Wim Van Hecke, Marcello Manfredi, Veronica De Giorgis, Simone Reano, Nicoletta Filigheddu, Valeria Bortolotto, Laura Tapella, Jasper J. Anink, Liesbeth François, Stefanie Dedeurwaerdere, James D. Mills, Armando A. Genazzani, Dmitry Lim, Eleonora Aronica
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Myofiber-type-dependent ‘boulder’ or ‘multitudinous pebble’ formations across distinct amylopectinoses Acta Neuropathol. (IF 12.7) Pub Date : 2024-02-27 Sharmistha Mitra, Baozhi Chen, John M. Shelton, Silvia Nitschke, Jun Wu, Lindsay Covington, Mathew Dear, Tori Lynn, Mayank Verma, Felix Nitschke, Yasuhiro Fuseya, Kazuhiro Iwai, Bret M. Evers, Berge A. Minassian
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Cortical-sparing chronic traumatic encephalopathy (CSCTE): a distinct subtype of CTE Acta Neuropathol. (IF 12.7) Pub Date : 2024-02-26 Abigail Alexander, Victor E. Alvarez, Bertrand R. Huber, Michael L. Alosco, Jesse Mez, Yorghos Tripodis, Raymond Nicks, Douglas I. Katz, Brigid Dwyer, Daniel H. Daneshvar, Brett Martin, Joseph Palmisano, Lee E. Goldstein, John F. Crary, Christopher Nowinski, Robert C. Cantu, Neil W. Kowall, Robert A. Stern, Ivana Delalle, Ann C. McKee, Thor D. Stein
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MET receptor serves as a promising target in melanoma brain metastases Acta Neuropathol. (IF 12.7) Pub Date : 2024-02-22 Torben Redmer, Elisa Schumann, Kristin Peters, Martin E. Weidemeier, Stephan Nowak, Henry W. S. Schroeder, Anna Vidal, Helena Radbruch, Annika Lehmann, Susanne Kreuzer-Redmer, Karsten Jürchott, Josefine Radke
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PP2A and GSK3 act as modifiers of FUS-ALS by modulating mitochondrial transport Acta Neuropathol. (IF 12.7) Pub Date : 2024-02-16 Paraskevi Tziortzouda, Jolien Steyaert, Wendy Scheveneels, Adria Sicart, Katarina Stoklund Dittlau, Adriana Margarida Barbosa Correia, Thibaut Burg, Arun Pal, Andreas Hermann, Philip Van Damme, Thomas G. Moens, Ludo Van Den Bosch
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Regional AT-8 reactive tau species correlate with intracellular Aβ levels in cases of low AD neuropathologic change Acta Neuropathol. (IF 12.7) Pub Date : 2024-02-14 Nauman Malik, Mohi-Uddin Miah, Alessandro Galgani, Kirsty McAleese, Lauren Walker, Fiona E. LeBeau, Johannes Attems, Tiago F. Outeiro, Alan Thomas, David J. Koss
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The niche matters: origin, function and fate of CNS-associated macrophages during health and disease Acta Neuropathol. (IF 12.7) Pub Date : 2024-02-12 Adrià Dalmau Gasull, Martina Glavan, Sai K. Reddy Samawar, Kishan Kapupara, Joe Kelk, Marina Rubio, Stefano Fumagalli, Lydia Sorokin, Denis Vivien, Marco Prinz
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The contribution of β-amyloid, Tau and α-synuclein to blood–brain barrier damage in neurodegenerative disorders Acta Neuropathol. (IF 12.7) Pub Date : 2024-02-12
Abstract Central nervous system (CNS) accumulation of fibrillary deposits made of Amyloid β (Aβ), hyperphosphorylated Tau or α-synuclein (α-syn), present either alone or in the form of mixed pathology, characterizes the most common neurodegenerative diseases (NDDs) as well as the aging brain. Compelling evidence supports that acute neurological disorders, such as traumatic brain injury (TBI) and stroke
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Endothelial cells and macrophages as allies in the healthy and diseased brain Acta Neuropathol. (IF 12.7) Pub Date : 2024-02-12 Adam Denes, Cathrin E. Hansen, Uemit Oezorhan, Sara Figuerola, Helga E. de Vries, Lydia Sorokin, Anna M. Planas, Britta Engelhardt, Markus Schwaninger
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Pineal parenchymal tumors of intermediate differentiation: in need of a stringent definition to avoid confusion. Scientific commentary on ‘Genetical and epigenetical profiling identifies two subgroups of pineal parenchymal tumors of intermediate differentiation (PPTID) with distinct molecular, histological and clinical characteristics’ Acta Neuropathol. (IF 12.7) Pub Date : 2024-02-10 Alexandre Vasiljevic
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“RYR1 and the cerebellum”: scientific commentary on “Defective Cerebellar Ryanodine Receptor Type 1 and Endoplasmic Reticulum Calcium ‘Leak’ in Tremor Pathophysiology” Acta Neuropathol. (IF 12.7) Pub Date : 2024-02-07 Heinz Jungbluth, Dennis T. Famili, Rick C. Helmich, Stefano Previtali, Nicol C. Voermans
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Transmembrane protein 97 is a potential synaptic amyloid beta receptor in human Alzheimer’s disease Acta Neuropathol. (IF 12.7) Pub Date : 2024-02-06
Abstract Synapse loss correlates with cognitive decline in Alzheimer’s disease, and soluble oligomeric amyloid beta (Aβ) is implicated in synaptic dysfunction and loss. An important knowledge gap is the lack of understanding of how Aβ leads to synapse degeneration. In particular, there has been difficulty in determining whether there is a synaptic receptor that binds Aβ and mediates toxicity. While
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Cryptic exon inclusion is a molecular signature of LATE-NC in aging brains Acta Neuropathol. (IF 12.7) Pub Date : 2024-02-03
Abstract The aggregation, mislocalization, and phosphorylation of TDP-43 are pathologic hallmarks of several neurodegenerative diseases and provide a defining criterion for the neuropathologic diagnosis of Limbic-predominant Age-related TDP-43 Encephalopathy (LATE). LATE neuropathologic changes (LATE-NC) are often comorbid with other neurodegenerative pathologies including Alzheimer’s disease neuropathologic
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New insights into neuropathology and pathogenesis of autoimmune glial fibrillary acidic protein meningoencephalomyelitis Acta Neuropathol. (IF 12.7) Pub Date : 2024-02-03 Yong Guo, Verena Endmayr, Anastasia Zekeridou, Andrew McKeon, Frank Leypoldt, Katharina Hess, Alicja Kalinowska-Lyszczarz, Andrea Klang, Akos Pakozdy, Elisabeth Höftberger, Simon Hametner, Carmen Haider, Désirée De Simoni, Sönke Peters, Ellen Gelpi, Christoph Röcken, Stefan Oberndorfer, Hans Lassmann, Claudia F. Lucchinetti, Romana Höftberger
Anti-glial fibrillary acidic protein (GFAP) meningoencephalomyelitis (autoimmune GFAP astrocytopathy) is a new autoimmune central nervous system (CNS) disease diagnosable by the presence of anti-GFAP autoantibodies in the cerebrospinal fluid and presents as meningoencephalomyelitis in the majority of patients. Only few neuropathological reports are available and little is known about the pathogenic
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Neuroinflammatory disease signatures in SPG11-related hereditary spastic paraplegia patients Acta Neuropathol. (IF 12.7) Pub Date : 2024-02-02 Laura Krumm, Tatyana Pozner, Naime Zagha, Roland Coras, Philipp Arnold, Thanos Tsaktanis, Kathryn Scherpelz, Marie Y. Davis, Johanna Kaindl, Iris Stolzer, Patrick Süß, Mukhran Khundadze, Christian A. Hübner, Markus J. Riemenschneider, Jonathan Baets, Claudia Günther, Suman Jayadev, Veit Rothhammer, Florian Krach, Jürgen Winkler, Beate Winner, Martin Regensburger
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Similar brain proteomic signatures in Alzheimer’s disease and epilepsy Acta Neuropathol. (IF 12.7) Pub Date : 2024-01-30 Dominique Leitner, Geoffrey Pires, Tomas Kavanagh, Evgeny Kanshin, Manor Askenazi, Beatrix Ueberheide, Orrin Devinsky, Thomas Wisniewski, Eleanor Drummond
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Mitochondrial damage and impaired mitophagy contribute to disease progression in SCA6 Acta Neuropathol. (IF 12.7) Pub Date : 2024-01-29 Tsz Chui Sophia Leung, Eviatar Fields, Namrata Rana, Ru Yi Louisa Shen, Alexandra E. Bernstein, Anna A. Cook, Daniel E. Phillips, Alanna J. Watt
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Head-to-head comparison of [18F]-Flortaucipir, [18F]-MK-6240 and [18F]-PI-2620 postmortem binding across the spectrum of neurodegenerative diseases Acta Neuropathol. (IF 12.7) Pub Date : 2024-01-27 Cinthya Aguero, Maeva Dhaynaut, Ana C. Amaral, S.-H. Moon, Ramesh Neelamegam, Margaret Scapellato, Carlos Carazo-Casas, Sunny Kumar, Georges El Fakhri, Keith Johnson, Matthew P. Frosch, Marc D. Normandin, Teresa Gómez-Isla
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Molecular characteristics and improved survival prediction in a cohort of 2023 ependymomas Acta Neuropathol. (IF 12.7) Pub Date : 2024-01-24
Abstract The diagnosis of ependymoma has moved from a purely histopathological review with limited prognostic value to an integrated diagnosis, relying heavily on molecular information. However, as the integrated approach is still novel and some molecular ependymoma subtypes are quite rare, few studies have correlated integrated pathology and clinical outcome, often focusing on small series of single
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Clinically relevant molecular hallmarks of PFA ependymomas display intratumoral heterogeneity and correlate with tumor morphology Acta Neuropathol. (IF 12.7) Pub Date : 2024-01-24 Swenja Gödicke, Catena Kresbach, Max Ehlert, Denise Obrecht, Lea Altendorf, Karoline Hack, Katja von Hoff, Helena Carén, Viktoria Melcher, Kornelius Kerl, Bernhard Englinger, Mariella Filbin, Kristian W. Pajtler, Johannes Gojo, Torsten Pietsch, Stefan Rutkowski, Ulrich Schüller
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Transcriptomic and epigenetic dissection of spinal ependymoma (SP-EPN) identifies clinically relevant subtypes enriched for tumors with and without NF2 mutation Acta Neuropathol. (IF 12.7) Pub Date : 2024-01-24 Sina Neyazi, Erika Yamazawa, Karoline Hack, Shota Tanaka, Genta Nagae, Catena Kresbach, Takayoshi Umeda, Alicia Eckhardt, Kenji Tatsuno, Lara Pohl, Taijun Hana, Michael Bockmayr, Phyo Kim, Mario M. Dorostkar, Toshihiro Takami, Denise Obrecht, Keisuke Takai, Abigail K. Suwala, Takashi Komori, Shweta Godbole, Annika K. Wefers, Ryohei Otani, Julia E. Neumann, Fumi Higuchi, Leonille Schweizer, Yuta Nakanishi
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Temporal change of DNA methylation subclasses between matched newly diagnosed and recurrent glioblastoma Acta Neuropathol. (IF 12.7) Pub Date : 2024-01-20 Richard Drexler, Robin Khatri, Ulrich Schüller, Alicia Eckhardt, Alice Ryba, Thomas Sauvigny, Lasse Dührsen, Malte Mohme, Tammo Ricklefs, Helena Bode, Fabian Hausmann, Tobias B. Huber, Stefan Bonn, Hannah Voß, Julia E. Neumann, Dana Silverbush, Volker Hovestadt, Mario L. Suvà, Katrin Lamszus, Jens Gempt, Manfred Westphal, Dieter H. Heiland, Sonja Hänzelmann, Franz L. Ricklefs
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A familial missense variant in the Alzheimer’s disease gene SORL1 impairs its maturation and endosomal sorting Acta Neuropathol. (IF 12.7) Pub Date : 2024-01-20 Elnaz Fazeli, Daniel D. Child, Stephanie A. Bucks, Miki Stovarsky, Gabrielle Edwards, Shannon E. Rose, Chang-En Yu, Caitlin Latimer, Yu Kitago, Thomas Bird, Suman Jayadev, Olav M. Andersen, Jessica E. Young
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Performance of a seed amplification assay for misfolded alpha-synuclein in cerebrospinal fluid and brain tissue in relation to Lewy body disease stage and pathology burden Acta Neuropathol. (IF 12.7) Pub Date : 2024-01-19
Abstract The development of in vitro seed amplification assays (SAA) detecting misfolded alpha-synuclein (αSyn) in cerebrospinal fluid (CSF) and other tissues has provided a pathology-specific biomarker for Lewy body disease (LBD). However, αSyn SAA diagnostic performance in early pathological stages or low Lewy body (LB) pathology load has only been assessed in small cohorts. Moreover, the relationship
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Multi-level profiling unravels mitochondrial dysfunction in myotonic dystrophy type 2 Acta Neuropathol. (IF 12.7) Pub Date : 2024-01-19 Felix Kleefeld, Rita Horvath, Iago Pinal-Fernandez, Andrew L. Mammen, Maria Casal-Dominguez, Denisa Hathazi, Sarah Melchert, Katrin Hahn, Albert Sickmann, Claudia Muselmann-Genschow, Andreas Hentschel, Corinna Preuße, Andreas Roos, Benedikt Schoser, Werner Stenzel
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Large-scale validation of skin prion seeding activity as a biomarker for diagnosis of prion diseases Acta Neuropathol. (IF 12.7) Pub Date : 2024-01-17 Weiguanliu Zhang, Christina D. Orrú, Aaron Foutz, Mingxuan Ding, Jue Yuan, Syed Zahid Ali Shah, Jing Zhang, Keisi Kotobelli, Maria Gerasimenko, Tricia Gilliland, Wei Chen, Michelle Tang, Mark Cohen, Jiri Safar, Bin Xu, Dao-Jun Hong, Li Cui, Andrew G. Hughson, Lawrence B. Schonberger, Curtis Tatsuoka, Shu G. Chen, Justin J. Greenlee, Zerui Wang, Brian S. Appleby, Byron Caughey, Wen-Quan Zou
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Pituitary neuroendocrine tumors with PIT1/SF1 co-expression show distinct clinicopathological and molecular features Acta Neuropathol. (IF 12.7) Pub Date : 2024-01-16
Abstract Pituitary neuroendocrine tumors (PitNETs) are classified according to cell lineage, which requires immunohistochemistry for adenohypophyseal hormones and the transcription factors (TFs) PIT1, SF1, and TPIT. According to the current WHO 2022 classification, PitNETs with co-expression of multiple TFs are termed “plurihormonal”. Previously, PIT1/SF1 co-expression was prevailingly reported in
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Complement and MHC patterns can provide the diagnostic framework for inflammatory neuromuscular diseases Acta Neuropathol. (IF 12.7) Pub Date : 2024-01-12 Christopher Nelke, Simone Schmid, Felix Kleefeld, Christina B. Schroeter, Hans-Hilmar Goebel, Sarah Hoffmann, Corinna Preuße, Heike Kölbel, Sven G. Meuth, Tobias Ruck, Werner Stenzel
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Novel lissencephaly-associated NDEL1 variant reveals distinct roles of NDE1 and NDEL1 in nucleokinesis and human cortical malformations Acta Neuropathol. (IF 12.7) Pub Date : 2024-01-09 Meng-Han Tsai, Hao-Chen Ke, Wan-Cian Lin, Fang-Shin Nian, Chia-Wei Huang, Haw-Yuan Cheng, Chi-Sin Hsu, Tiziana Granata, Chien-Hui Chang, Barbara Castellotti, Shin-Yi Lin, Fabio M. Doniselli, Cheng-Ju Lu, Silvana Franceschetti, Francesca Ragona, Pei-Shan Hou, Laura Canafoglia, Chien-Yi Tung, Mei-Hsuan Lee, Won-Jing Wang, Jin-Wu Tsai
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Distinct tau and alpha-synuclein molecular signatures in Alzheimer’s disease with and without Lewy bodies and Parkinson’s disease with dementia Acta Neuropathol. (IF 12.7) Pub Date : 2024-01-10 Bram L. van der Gaag, Natasja A. C. Deshayes, John J. P. Breve, John G. J. M. Bol, Allert J. Jonker, Jeroen J. M. Hoozemans, Jean-Philippe Courade, Wilma D. J. van de Berg
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CSF p-tau205: a biomarker of tau pathology in Alzheimer’s disease Acta Neuropathol. (IF 12.7) Pub Date : 2024-01-06 Juan Lantero-Rodriguez, Laia Montoliu-Gaya, Andrea L. Benedet, Agathe Vrillon, Julien Dumurgier, Emmanuel Cognat, Wagner S. Brum, Nesrine Rahmouni, Jenna Stevenson, Stijn Servaes, Joseph Therriault, Bruno Becker, Gunnar Brinkmalm, Anniina Snellman, Hanna Huber, Hlin Kvartsberg, Nicholas J. Ashton, Henrik Zetterberg, Claire Paquet, Pedro Rosa-Neto, Kaj Blennow
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New evidence suggests SARS-CoV-2 neuroinvasion along the nervus terminalis rather than the olfactory pathway Acta Neuropathol. (IF 12.7) Pub Date : 2024-01-06 Christopher S. von Bartheld, Rafal Butowt
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Improved prognostic stratification of patients with isocitrate dehydrogenase-mutant astrocytoma Acta Neuropathol. (IF 12.7) Pub Date : 2024-01-06 Michael Weller, Jörg Felsberg, Bettina Hentschel, Dorothee Gramatzki, Nadezhda Kubon, Marietta Wolter, Matthias Reusche, Patrick Roth, Dietmar Krex, Ulrich Herrlinger, Manfred Westphal, Joerg C. Tonn, Luca Regli, Claude-Alain Maurage, Andreas von Deimling, Torsten Pietsch, Emilie Le Rhun, Guido Reifenberger
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Cryptic splicing of stathmin-2 and UNC13A mRNAs is a pathological hallmark of TDP-43-associated Alzheimer’s disease Acta Neuropathol. (IF 12.7) Pub Date : 2024-01-04 Ana Rita Agra Almeida Quadros, Zhaozhi Li, Xue Wang, I. Sandra Ndayambaje, Sandeep Aryal, Nandini Ramesh, Matthew Nolan, Rojashree Jayakumar, Yi Han, Hannah Stillman, Corey Aguilar, Hayden J. Wheeler, Theresa Connors, Jone Lopez-Erauskin, Michael W. Baughn, Ze’ev Melamed, Melinda S. Beccari, Laura Olmedo Martínez, Michael Canori, Chao-Zong Lee, Laura Moran, Isabelle Draper, Alan S. Kopin, Derek H.
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p-tau Ser356 is associated with Alzheimer’s disease pathology and is lowered in brain slice cultures using the NUAK inhibitor WZ4003 Acta Neuropathol. (IF 12.7) Pub Date : 2024-01-04 Lewis W. Taylor, Elizabeth M. Simzer, Claire Pimblett, Oscar T. T. Lacey-Solymar, Robert I. McGeachan, Soraya Meftah, Jamie L. Rose, Maxwell P. Spires-Jones, Kristján Holt, James H. Catterson, Henner Koch, Imran Liaquat, Jonathan H. Clarke, John Skidmore, Colin Smith, Sam A. Booker, Paul M. Brennan, Tara L. Spires-Jones, Claire S. Durrant
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Cortical matrix remodeling as a hallmark of relapsing–remitting neuroinflammation in MR elastography and quantitative MRI Acta Neuropathol. (IF 12.7) Pub Date : 2024-01-04 Rafaela V. Silva, Anna S. Morr, Helge Herthum, Stefan P. Koch, Susanne Mueller, Clara S. Batzdorf, Gergely Bertalan, Tom Meyer, Heiko Tzschätzsch, Anja A. Kühl, Philipp Boehm-Sturm, Jürgen Braun, Michael Scheel, Friedemann Paul, Carmen Infante-Duarte, Ingolf Sack
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Disruption of MAM integrity in mutant FUS oligodendroglial progenitors from hiPSCs Acta Neuropathol. (IF 12.7) Pub Date : 2024-01-03 Yingli Zhu, Thibaut Burg, Katrien Neyrinck, Tim Vervliet, Fatemeharefeh Nami, Ellen Vervoort, Karan Ahuja, Maria Livia Sassano, Yoke Chin Chai, Arun Kumar Tharkeshwar, Jonathan De Smedt, Haibo Hu, Geert Bultynck, Patrizia Agostinis, Johannes V. Swinnen, Ludo Van Den Bosch, Rodrigo Furtado Madeiro da Costa, Catherine Verfaillie
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Optimal blood tau species for the detection of Alzheimer’s disease neuropathology: an immunoprecipitation mass spectrometry and autopsy study Acta Neuropathol. (IF 12.7) Pub Date : 2023-12-30 Laia Montoliu-Gaya, Michael L. Alosco, Eukyung Yhang, Yorghos Tripodis, Daniel Sconzo, Madeline Ally, Lana Grötschel, Nicholas J. Ashton, Juan Lantero-Rodriguez, Mathias Sauer, Bárbara Gomes, Johanna Nilsson, Gunnar Brinkmalm, Michael A. Sugarman, Hugo J. Aparicio, Brett Martin, Joseph N. Palmisano, Eric G. Steinberg, Irene Simkin, Katherine W. Turk, Andrew E. Budson, Rhoda Au, Lindsay Farrer, Gyungah
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Loss of TDP-43 splicing repression occurs early in the aging population and is associated with Alzheimer’s disease neuropathologic changes and cognitive decline Acta Neuropathol. (IF 12.7) Pub Date : 2023-12-22 Koping Chang, Jonathan P. Ling, Javier Redding-Ochoa, Yang An, Ling Li, Stephanie A. Dean, Thomas G. Blanchard, Tatiana Pylyukh, Alexander Barrett, Katherine E. Irwin, Abhay Moghekar, Susan M. Resnick, Philip C. Wong, Juan C. Troncoso
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“De novo replication repair deficient glioblastoma, IDH-wildtype” is a distinct glioblastoma subtype in adults that may benefit from immune checkpoint blockade Acta Neuropathol. (IF 12.7) Pub Date : 2023-12-11 Sara Hadad, Rohit Gupta, Nancy Ann Oberheim Bush, Jennie W. Taylor, Javier E. Villanueva-Meyer, Jacob S. Young, Jasper Wu, Ajay Ravindranathan, Yalan Zhang, Gayathri Warrier, Lucie McCoy, Anny Shai, Melike Pekmezci, Arie Perry, Andrew W. Bollen, Joanna J. Phillips, Steve E. Braunstein, David R. Raleigh, Philip Theodosopoulos, Manish K. Aghi, Edward F. Chang, Shawn L. Hervey-Jumper, Joseph F. Costello
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A new subtype of diffuse midline glioma, H3 K27 and BRAF/FGFR1 co-altered: a clinico-radiological and histomolecular characterisation Acta Neuropathol. (IF 12.7) Pub Date : 2023-12-08 Lucie Auffret, Yassine Ajlil, Arnault Tauziède-Espariat, Thomas Kergrohen, Chloé Puiseux, Laurent Riffaud, Pascale Blouin, Anne-Isabelle Bertozzi, Pierre Leblond, Klas Blomgren, Sébastien Froelich, Alberto Picca, Mehdi Touat, Marc Sanson, Kévin Beccaria, Thomas Blauwblomme, Volodia Dangouloff-Ros, Nathalie Boddaert, Pascale Varlet, Marie-Anne Debily, Jacques Grill, David Castel
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G2C4 targeting antisense oligonucleotides potently mitigate TDP-43 dysfunction in human C9orf72 ALS/FTD induced pluripotent stem cell derived neurons Acta Neuropathol. (IF 12.7) Pub Date : 2023-11-29 Jeffrey D. Rothstein, Victoria Baskerville, Sampath Rapuri, Emma Mehlhop, Paymaan Jafar-Nejad, Frank Rigo, Frank Bennett, Sarah Mizielinska, Adrian Isaacs, Alyssa N. Coyne
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The neuropathology of intimate partner violence Acta Neuropathol. (IF 12.7) Pub Date : 2023-10-28 Kristen Dams-O’Connor, Alan C. Seifert, John F. Crary, Bradley N. Delman, Marc R. Del Bigio, Gabor G. Kovacs, Edward B. Lee, Amber L. Nolan, Ariel Pruyser, Enna Selmanovic, William Stewart, Emma Woodoff-Leith, Rebecca D. Folkerth
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Microglia activation in periplaque white matter in multiple sclerosis depends on age and lesion type, but does not correlate with oligodendroglial loss Acta Neuropathol. (IF 12.7) Pub Date : 2023-10-28 Wiebke Kessler, Christian Thomas, Tanja Kuhlmann
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PLAG1 fusions extend the spectrum of PLAG(L)-altered CNS tumors Acta Neuropathol. (IF 12.7) Pub Date : 2023-10-23 Arnault Tauziède-Espariat, Aurore Siegfried, Yvan Nicaise, Delphine Dghayem, Anne Laprie, Vincent Lubrano, Pomone Richard, Guillaume Gauchotte, Joséphine Malczuk, Olivier Klein, Lauren Hasty, Alice Métais, Fabrice Chrétien, Volodia Dangouloff-Ros, Nathalie Boddaert, Felix Sahm, Philipp Sievers, Pascale Varlet, Emmanuelle Uro-Coste
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Risk of chronic traumatic encephalopathy in rugby union is associated with length of playing career. Acta Neuropathol. (IF 12.7) Pub Date : 2023-10-24 William Stewart,Michael E Buckland,Bobak Abdolmohammadi,Andrew J Affleck,Victor E Alvarez,Shannon Gilchrist,Bertrand R Huber,Edward B Lee,Donald M Lyall,Christopher J Nowinski,Emma R Russell,Thor D Stein,Catherine M Suter,Ann C McKee
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Clinical, genomic, and epigenomic analyses of H3K27M-mutant diffuse midline glioma long-term survivors reveal a distinct group of tumors with MAPK pathway alterations Acta Neuropathol. (IF 12.7) Pub Date : 2023-10-18 Holly J. Roberts, Sunjong Ji, Alberto Picca, Marc Sanson, Mekka Garcia, Matija Snuderl, Ulrich Schüller, Thiébaud Picart, François Ducray, Adam L. Green, Yoshiko Nakano, Dominik Sturm, Zied Abdullaev, Kenneth Aldape, Derek Dang, Chandan Kumar-Sinha, Yi-Mi Wu, Dan Robinson, Josh N. Vo, Arul M. Chinnaiyan, Rodrigo Cartaxo, Santhosh A. Upadhyaya, Rajen Mody, Jason Chiang, Suzanne Baker, David Solomon
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Independent prognostic impact of DNA methylation class and chromosome 1p loss in WHO grade 2 and 3 meningioma undergoing adjuvant high-dose radiotherapy: comprehensive molecular analysis of EORTC 22042–26042 Acta Neuropathol. (IF 12.7) Pub Date : 2023-10-19 Sybren L. N. Maas, Philipp Sievers, Damien C. Weber, Michael Weller, Martin J. van den Bent, Maximilian J. Mair, Johan M. Kros, Fransesca Carparrotti, Andreas von Deimling, Villà Freixa Salvador, Saskia Marguerite Peerdeman, Jose Casas-Martin, Thierry Gorlia, Felix Sahm, Matthias Preusser
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CDKN2A/B mutations and allele-specific alterations stratify survival outcomes in IDH-mutant astrocytomas Acta Neuropathol. (IF 12.7) Pub Date : 2023-10-13 Richard A. Hickman, Erika Gedvilaite, Ryan Ptashkin, Anne S. Reiner, Robert Cimera, Subhiksha Nandakumar, Adam Price, Chad Vanderbilt, Tara Fahy, Robert J. Young, Alexandra M. Miller, Ingo K. Mellinghoff, Marc K. Rosenblum, Marc Ladanyi, Maria E. Arcila, Yanming Zhang, A. Rose Brannon, Tejus A. Bale
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Somatic mosaic SOX10 indel mutations underlie a form of segmental schwannomatosis Acta Neuropathol. (IF 12.7) Pub Date : 2023-10-11 Merryl Terry, Rohit Gupta, Ajay Ravindranathan, Jasper Wu, Emily Chan, Andrew W. Bollen, Susan M. Chang, Mitchel S. Berger, Line Jacques, David A. Solomon
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Histopathologic brain age estimation via multiple instance learning Acta Neuropathol. (IF 12.7) Pub Date : 2023-10-10 Gabriel A. Marx, Justin Kauffman, Andrew T. McKenzie, Daniel G. Koenigsberg, Cory T. McMillan, Susan Morgello, Esma Karlovich, Ricardo Insausti, Timothy E. Richardson, Jamie M. Walker, Charles L. White, Bergan M. Babrowicz, Li Shen, Ann C. McKee, Thor D. Stein, Kurt Farrell, John F. Crary
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Genetical and epigenetical profiling identifies two subgroups of pineal parenchymal tumors of intermediate differentiation (PPTID) with distinct molecular, histological and clinical characteristics Acta Neuropathol. (IF 12.7) Pub Date : 2023-09-30 Ramin Rahmanzade, Elke Pfaff, Rouzbeh Banan, Philipp Sievers, Abigail K. Suwala, Felix Hinz, Henri Bogumil, Asan Cherkezov, Aras Fuat Kaan, Daniel Schrimpf, Dennis Friedel, Kirsten Göbel, Felix Keller, Xavier Saenz-Sardà, Alexander Lossos, Martin Sill, Olaf Witt, Oliver W. Sakowitz, Andrey Korshunov, David E. Reuss, Nima Etminan, Andreas Unterberg, Miriam Ratliff, Christel Herold-Mende, Wolfgang Wick