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Molecular classification and outcome of children with rare CNS embryonal tumors: results from St. Jude Children’s Research Hospital including the multi-center SJYC07 and SJMB03 clinical trials Acta Neuropathol. (IF 15.887) Pub Date : 2022-08-18 Anthony P. Y. Liu, Sandeep K. Dhanda, Tong Lin, Edgar Sioson, Aksana Vasilyeva, Brian Gudenas, Ruth G. Tatevossian, Sujuan Jia, Geoffrey Neale, Daniel C. Bowers, Tim Hassall, Sonia Partap, John R. Crawford, Murali Chintagumpala, Eric Bouffet, Geoff McCowage, Alberto Broniscer, Ibrahim Qaddoumi, Greg Armstrong, Karen D. Wright, Santhosh A. Upadhyaya, Anna Vinitsky, Christopher L. Tinkle, John Lucas
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Flow blockage disrupts cilia-driven fluid transport in the epileptic brain Acta Neuropathol. (IF 15.887) Pub Date : 2022-08-18 Regina J. Faubel, Veronica S. Santos Canellas, Jenna Gaesser, Nancy H. Beluk, Tim N. Feinstein, Yong Wang, Maya Yankova, Kalyani B. Karunakaran, Stephen M. King, Madhavi K. Ganapathiraju, Cecilia W. Lo
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DNA methylation analysis of archival lymphoreticular tissues in Creutzfeldt–Jakob disease Acta Neuropathol. (IF 15.887) Pub Date : 2022-08-18 Fernando Guntoro, Emmanuelle Viré, Chiara Giordani, Lee Darwent, Holger Hummerich, Jacqueline Linehan, Katy Sinka, Zane Jaunmuktane, Sebastian Brandner, John Collinge, Simon Mead
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Single-cell DNA sequencing reveals order of mutational acquisition in TRAF7/AKT1 and TRAF7/KLF4 mutant meningiomas Acta Neuropathol. (IF 15.887) Pub Date : 2022-08-19 Helin Dogan, Christina Blume, Areeba Patel, Gerhard Jungwirth, Lisa Sogerer, Miriam Ratliff, Ralf Ketter, Christel Herold-Mende, David T. W. Jones, Wolfgang Wick, Philipp Vollmuth, Klaus Zweckberger, David Reuss, Andreas von Deimling, Felix Sahm
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Selective tau seeding assays and isoform-specific antibodies define neuroanatomic distribution of progressive supranuclear palsy pathology arising in Alzheimer’s disease Acta Neuropathol. (IF 15.887) Pub Date : 2022-08-18 David G. Coughlin, Vanessa S. Goodwill, Heidi G. Standke, Yongya Kim, Nicolas Coley, Donald P. Pizzo, Douglas Galasko, Allison Kraus, Annie Hiniker
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Single-nucleus chromatin accessibility profiling highlights distinct astrocyte signatures in progressive supranuclear palsy and corticobasal degeneration Acta Neuropathol. (IF 15.887) Pub Date : 2022-08-17 Nils Briel, Viktoria C. Ruf, Katrin Pratsch, Sigrun Roeber, Jeannine Widmann, Janina Mielke, Mario M. Dorostkar, Otto Windl, Thomas Arzberger, Jochen Herms, Felix L. Struebing
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Severe congenital myasthenic syndromes caused by agrin mutations affecting secretion by motoneurons Acta Neuropathol. (IF 15.887) Pub Date : 2022-08-10 Arnaud Jacquier, Valérie Risson, Thomas Simonet, Florine Roussange, Nicolas Lacoste, Shams Ribault, Julien Carras, Julian Theuriet, Emmanuelle Girard, Isabelle Grosjean, Laure Le Goff, Stephan Kröger, Julia Meltoranta, Stéphanie Bauché, Damien Sternberg, Emmanuel Fournier, Anna Kostera-Pruszczyk, Emily O’Connor, Bruno Eymard, Hanns Lochmüller, Cécile Martinat, Laurent Schaeffer
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Rainwater Charitable Foundation criteria for the neuropathologic diagnosis progressive supranuclear palsy Acta Neuropathol. (IF 15.887) Pub Date : 2022-08-10 Shanu F. Roemer, Lea T. Grinberg, John F. Crary, William W. Seeley, Ann C. McKee, Gabor G. Kovacs, Thomas G. Beach, Charles Duyckaerts, Isidro A. Ferrer, Ellen Gelpi, Edward B. Lee, Tamas Revesz, Charles L. White, Mari Yoshida, Felipe L. Pereira, Kristen Whitney, Nikhil B. Ghayal, Dennis W. Dickson
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Multiplatform molecular analyses refine classification of gliomas arising in patients with neurofibromatosis type 1 Acta Neuropathol. (IF 15.887) Pub Date : 2022-08-09 Calixto-Hope G. Lucas, Emily A. Sloan, Rohit Gupta, Jasper Wu, Drew Pratt, Harish N. Vasudevan, Ajay Ravindranathan, Jairo Barreto, Erik A. Williams, Anny Shai, Nicholas S. Whipple, Carol S. Bruggers, Ossama Maher, Burt Nabors, Michael Rodriguez, David Samuel, Melandee Brown, Jason Carmichael, Rufei Lu, Kanish Mirchia, Daniel V. Sullivan, Melike Pekmezci, Tarik Tihan, Andrew W. Bollen, Arie Perry,
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Two predominant molecular subtypes of spinal meningioma: thoracic NF2-mutant tumors strongly associated with female sex, and cervical AKT1-mutant tumors originating ventral to the spinal cord Acta Neuropathol. (IF 15.887) Pub Date : 2022-08-09 Lingyang Hua, Majd Alkhatib, Dino Podlesek, Leila Günther, Thomas Pinzer, Matthias Meinhardt, Silke Zeugner, Sylvia Herold, Daniel P. Cahill, Priscilla K. Brastianos, Erik A. Williams, Victoria E. Clark, Ganesh M. Shankar, Hiroaki Wakimoto, Leihao Ren, Jiawei Chen, Ye Gong, Gabriele Schackert, Tareq A. Juratli
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Generation of patient-derived models from a metastatic pediatric diffuse leptomeningeal glioneuronal tumor with KIAA1549::BRAF fusion Acta Neuropathol. (IF 15.887) Pub Date : 2022-08-04 Julie Messiaen, Annelies Claeys, Aniket Shetty, Lien Spans, Marleen Derweduwe, Anne Uyttebroeck, Bart Depreitere, Isabelle Vanden Bempt, Raf Sciot, Keith L. Ligon, David T. W. Jones, Sandra A. Jacobs, Frederik De Smet
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Galectin-3 is elevated in CSF and is associated with Aβ deposits and tau aggregates in brain tissue in Alzheimer’s disease Acta Neuropathol. (IF 15.887) Pub Date : 2022-07-27 Antonio Boza-Serrano, Agathe Vrillon, Karolina Minta, Agnes Paulus, Lluís Camprubí-Ferrer, Megg Garcia, Ulf Andreasson, Anna Antonell, Malin Wennström, Gunnar Gouras, Julien Dumurgier, Emmanuel Cognat, Laura Molina-Porcel, Mircea Balasa, Javier Vitorica, Raquel Sánchez-Valle, Claire Paquet, Jose Luis Venero, Kaj Blennow, Tomas Deierborg
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HNRNPK alleviates RNA toxicity by counteracting DNA damage in C9orf72 ALS Acta Neuropathol. (IF 15.887) Pub Date : 2022-07-27 Elke Braems, Valérie Bercier, Evelien Van Schoor, Kara Heeren, Jimmy Beckers, Laura Fumagalli, Lieselot Dedeene, Matthieu Moisse, Ilse Geudens, Nicole Hersmus, Arpan R. Mehta, Bhuvaneish T. Selvaraj, Siddharthan Chandran, Ritchie Ho, Dietmar R. Thal, Philip Van Damme, Bart Swinnen, Ludo Van Den Bosch
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An interaction between synapsin and C9orf72 regulates excitatory synapses and is impaired in ALS/FTD Acta Neuropathol. (IF 15.887) Pub Date : 2022-07-25 Claudia S. Bauer, Rebecca N. Cohen, Francesca Sironi, Matthew R. Livesey, Thomas H. Gillingwater, J. Robin Highley, Daniel J. Fillingham, Ian Coldicott, Emma F. Smith, Yolanda B. Gibson, Christopher P. Webster, Andrew J. Grierson, Caterina Bendotti, Kurt J. De Vos
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Regional distribution and maturation of tau pathology among phenotypic variants of Alzheimer’s disease Acta Neuropathol. (IF 15.887) Pub Date : 2022-07-23 Sanaz Arezoumandan, Sharon X. Xie, Katheryn A. Q. Cousins, Dawn J. Mechanic-Hamilton, Claire S. Peterson, Camille Y. Huang, Daniel T. Ohm, Ranjit Ittyerah, Corey T. McMillan, David A. Wolk, Paul Yushkevich, John Q. Trojanowski, Edward B. Lee, Murray Grossman, Jeffrey S. Phillips, David J. Irwin
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Jorge Cervós-Navarro 1930–2021 Acta Neuropathol. (IF 15.887) Pub Date : 2022-07-23 Gisela Stoltenburg-Didinger, Hans-Hilmar Goebel
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Increased pyroptosis activation in white matter microglia is associated with neuronal loss in ALS motor cortex Acta Neuropathol. (IF 15.887) Pub Date : 2022-07-22 Evelien Van Schoor, Simona Ospitalieri, Sebastiaan Moonen, Sandra O. Tomé, Alicja Ronisz, Orkun Ok, Jochen Weishaupt, Albert C. Ludolph, Philip Van Damme, Ludo Van Den Bosch, Dietmar Rudolf Thal
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Decreased FAK activity and focal adhesion dynamics impair proper neurite formation of medium spiny neurons in Huntington's disease Acta Neuropathol. (IF 15.887) Pub Date : 2022-07-20 Hae Nim Lee, Seung Jae Hyeon, Heejung Kim, Kyoung Mi Sim, Yunha Kim, Jeongmin Ju, Junghee Lee, Yingxiao Wang, Hoon Ryu, Jihye Seong
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X-linked myotubular myopathy is associated with epigenetic alterations and is ameliorated by HDAC inhibition Acta Neuropathol. (IF 15.887) Pub Date : 2022-07-17 Jonathan R. Volpatti, Mehdi M. Ghahramani-Seno, Mélanie Mansat, Nesrin Sabha, Ege Sarikaya, Sarah J. Goodman, Eric Chater-Diehl, Alper Celik, Emanuela Pannia, Carine Froment, Lucie Combes-Soia, Nika Maani, Kyoko E. Yuki, Gaëtan Chicanne, Liis Uusküla-Reimand, Simon Monis, Sana Akhtar Alvi, Casie A. Genetti, Bernard Payrastre, Alan H. Beggs, Carsten G. Bonnemann, Francesco Muntoni, Michael D. Wilson
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Neuropathologic scales of cerebrovascular disease associated with diffusion changes on MRI Acta Neuropathol. (IF 15.887) Pub Date : 2022-07-16 Aivi T. Nguyen, Naomi Kouri, Sydney A. Labuzan, Scott A. Przybelski, Timothy G. Lesnick, Sheelakumari Raghavan, Robert I. Reid, R. Ross Reichard, David S. Knopman, Ronald C. Petersen, Clifford R. Jack, Michelle M. Mielke, Dennis W. Dickson, Jonathan Graff-Radford, Melissa E. Murray, Prashanthi Vemuri
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Distinct tau neuropathology and cellular profiles of an APOE3 Christchurch homozygote protected against autosomal dominant Alzheimer’s dementia Acta Neuropathol. (IF 15.887) Pub Date : 2022-07-15 Diego Sepulveda-Falla, Justin S. Sanchez, Maria Camila Almeida, Daniela Boassa, Juliana Acosta-Uribe, Clara Vila-Castelar, Liliana Ramirez-Gomez, Ana Baena, David Aguillon, Nelson David Villalba-Moreno, Jessica Lisa Littau, Andres Villegas, Thomas G. Beach, Charles L. White, Mark Ellisman, Susanne Krasemann, Markus Glatzel, Keith A. Johnson, Reisa A. Sperling, Eric M. Reiman, Joseph F. Arboleda-Velasquez
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Single-cell DNA sequencing identifies risk-associated clonal complexity and evolutionary trajectories in childhood medulloblastoma development Acta Neuropathol. (IF 15.887) Pub Date : 2022-07-13 Marina Danilenko, Masood Zaka, Claire Keeling, Stephen Crosier, Stephanie Lyman, Martina Finetti, Daniel Williamson, Rafiqul Hussain, Jonathan Coxhead, Peixun Zhou, Rebecca M. Hill, Debbie Hicks, Vikki Rand, Abhijit Joshi, Edward C. Schwalbe, Simon Bailey, Steven C. Clifford
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Cryo-EM structures of prion protein filaments from Gerstmann–Sträussler–Scheinker disease Acta Neuropathol. (IF 15.887) Pub Date : 2022-07-12 Grace I. Hallinan, Kadir A. Ozcan, Md Rejaul Hoq, Laura Cracco, Frank S. Vago, Sakshibeedu R. Bharath, Daoyi Li, Max Jacobsen, Emma H. Doud, Amber L. Mosley, Anllely Fernandez, Holly J. Garringer, Wen Jiang, Bernardino Ghetti, Ruben Vidal
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Blood-based Aβ42 increases in the earliest pre-pathological stage before decreasing with progressive amyloid pathology in preclinical models and human subjects: opening new avenues for prevention Acta Neuropathol. (IF 15.887) Pub Date : 2022-07-07 Pablo Botella Lucena, Sarah Vanherle, Chritica Lodder, Manuel Gutiérrez de Ravé, Ilie-Cosmin Stancu, Ivo Lambrichts, Riet Vangheluwe, Rose Bruffaerts, Ilse Dewachter
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Activating cannabinoid receptor 2 preserves axonal health through GSK-3β/NRF2 axis in adrenoleukodystrophy Acta Neuropathol. (IF 15.887) Pub Date : 2022-07-01 Janani Parameswaran, Leire Goicoechea, Laura Planas-Serra, Antoni Pastor, Montserrat Ruiz, Noel Y. Calingasan, Cristina Guilera, Ester Aso, Jordi Boada, Reinald Pamplona, Manuel Portero-Otín, Rafael de la Torre, Isidre Ferrer, Carlos Casasnovas, Aurora Pujol, Stéphane Fourcade
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Aberrant NOVA1 function disrupts alternative splicing in early stages of amyotrophic lateral sclerosis Acta Neuropathol. (IF 15.887) Pub Date : 2022-07-01 Florian Krach, Emily C. Wheeler, Martin Regensburger, Tom Boerstler, Holger Wend, Anthony Q. Vu, Ruth Wang, Stephanie Reischl, Karsten Boldt, Ranjan Batra, Stefan Aigner, John Ravits, Juergen Winkler, Gene W. Yeo, Beate Winner
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Loss of LAMP5 interneurons drives neuronal network dysfunction in Alzheimer’s disease Acta Neuropathol. (IF 15.887) Pub Date : 2022-07-03 Yuanyuan Deng, Mian Bi, Fabien Delerue, Shelley L. Forrest, Gabriella Chan, Julia van der Hoven, Annika van Hummel, Astrid F. Feiten, Seojin Lee, Ivan Martinez-Valbuena, Tim Karl, Gabor G. Kovacs, Grant Morahan, Yazi D. Ke, Lars M. Ittner
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Gene expression profiling of Group 3 medulloblastomas defines a clinically tractable stratification based on KIRREL2 expression Acta Neuropathol. (IF 15.887) Pub Date : 2022-06-30 Andrey Korshunov, Konstantin Okonechnikov, Damian Stichel, Daniel Schrimpf, Alberto Delaidelli, Svenja Tonn, Martin Mynarek, Philipp Sievers, Felix Sahm, David T. W. Jones, Andreas von Deimling, Stefan M. Pfister, Marcel Kool
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Profiling the neurovascular unit unveils detrimental effects of osteopontin on the blood–brain barrier in acute ischemic stroke Acta Neuropathol. (IF 15.887) Pub Date : 2022-06-25 Daniel Spitzer, Sylvaine Guérit, Tim Puetz, Maryam I. Khel, Moritz Armbrust, Maika Dunst, Jadranka Macas, Jenny Zinke, Gayatri Devraj, Xiaoxiong Jia, Florian Croll, Kathleen Sommer, Katharina Filipski, Thomas M. Freiman, Mario Looso, Stefan Günther, Mariangela Di Tacchio, Karl-Heinz Plate, Yvonne Reiss, Stefan Liebner, Patrick N. Harter, Kavi Devraj
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Intratumor and informatic heterogeneity influence meningioma molecular classification Acta Neuropathol. (IF 15.887) Pub Date : 2022-06-27 Harish N. Vasudevan, Abrar Choudhury, Stephanie Hilz, Javier E. Villanueva-Meyer, William C. Chen, Calixto-Hope G. Lucas, Steve E. Braunstein, Nancy Ann Oberheim Bush, Nicholas Butowski, Melike Pekmezci, Michael W. McDermott, Arie Perry, David A. Solomon, Stephen T. Magill, David R. Raleigh
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The Alzheimer’s disease GWAS risk alleles in the ABCA7 promoter and 5’ region reduce ABCA7 expression Acta Neuropathol. (IF 15.887) Pub Date : 2022-06-27 Nicholas N. Lyssenko, Xinghua Shi, Domenico Praticò
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α-Synuclein molecular behavior and nigral proteomic profiling distinguish subtypes of Lewy body disorders Acta Neuropathol. (IF 15.887) Pub Date : 2022-06-24 Ivan Martinez-Valbuena, Emily Swinkin, Enrique Santamaria, Joaquin Fernandez-Irigoyen, Valerie Sackmann, Ain Kim, Jun Li, Paulina Gonzalez-Latapi, Greg Kuhlman, Suvorit Subhas Bhowmick, Naomi P. Visanji, Anthony E. Lang, Gabor G. Kovacs
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Atypical NMDA receptor expression in a diffuse astrocytoma, MYB- or MYBL1-altered as a trigger for autoimmune encephalitis Acta Neuropathol. (IF 15.887) Pub Date : 2022-06-21 Marc Nikolaus, Arend Koch, Werner Stenzel, Sefer Elezkurtaj, Felix Sahm, Anna Tietze, Laura Stöffler, Jakob Kreye, Pablo Hernáiz Driever, Ulrich W. Thomale, Angela M. Kaindl, Markus Schuelke, Ellen Knierim
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Dominant-acting CSF1R variants cause microglial depletion and altered astrocytic phenotype in zebrafish and adult-onset leukodystrophy Acta Neuropathol. (IF 15.887) Pub Date : 2022-06-17 Woutje M. Berdowski, Herma C. van der Linde, Marjolein Breur, Nynke Oosterhof, Shanice Beerepoot, Leslie Sanderson, Lieve I. Wijnands, Patrick de Jong, Elisa Tsai-Meu-Chong, Walter de Valk, Moniek de Witte, Wilfred F. J. van IJcken, Jeroen Demmers, Marjo S. van der Knaap, Marianna Bugiani, Nicole I. Wolf, Tjakko J. van Ham
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TDP-43 drives synaptic and cognitive deterioration following traumatic brain injury Acta Neuropathol. (IF 15.887) Pub Date : 2022-06-17 Fei Gao, Mei Hu, Jian Zhang, Jack Hashem, Chu Chen
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Frequency of LATE neuropathologic change across the spectrum of Alzheimer’s disease neuropathology: combined data from 13 community-based or population-based autopsy cohorts Acta Neuropathol. (IF 15.887) Pub Date : 2022-06-13 Peter T. Nelson, Carol Brayne, Margaret E. Flanagan, Erin L. Abner, Sonal Agrawal, Johannes Attems, Rudolph J. Castellani, Maria M. Corrada, Matthew D. Cykowski, Jing Di, Dennis W. Dickson, Brittany N. Dugger, John F. Ervin, Jane Fleming, Jonathan Graff-Radford, Lea T. Grinberg, Suvi R. K. Hokkanen, Sally Hunter, Alifiya Kapasi, Claudia H. Kawas, Hannah A. D. Keage, C. Dirk Keene, Mia Kero, David S
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A tribute to Paul Kleihues, M.D. (1936–2022) Acta Neuropathol. (IF 15.887) Pub Date : 2022-06-13 Otmar D. Wiestler
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Complement activation contributes to GAD antibody-associated encephalitis Acta Neuropathol. (IF 15.887) Pub Date : 2022-06-13 Omar Chuquisana, Christine Strippel, Anna M. Tröscher, Tobias Baumgartner, Attila Rácz, Christian W. Keller, Christian E. Elger, Nico Melzer, Stjepana Kovac, Heinz Wiendl, Jan Bauer, Jan D. Lünemann
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Oncostatin M triggers brain inflammation by compromising blood–brain barrier integrity Acta Neuropathol. (IF 15.887) Pub Date : 2022-06-06 Doryssa Hermans, Evelien Houben, Paulien Baeten, Helena Slaets, Kris Janssens, Cindy Hoeks, Baharak Hosseinkhani, Gayel Duran, Seppe Bormans, Elizabeth Gowing, Chloé Hoornaert, Lien Beckers, Wing Ka Fung, Horst Schroten, Hiroshi Ishikawa, Judith Fraussen, Ronald Thoelen, Helga E. de Vries, Gijs Kooij, Stephanie Zandee, Alexandre Prat, Niels Hellings, Bieke Broux
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DNA-methylome-assisted classification of patients with poor prognostic subventricular zone associated IDH-wildtype glioblastoma Acta Neuropathol. (IF 15.887) Pub Date : 2022-06-04 Sebastian Adeberg, Maximilian Knoll, Christian Koelsche, Denise Bernhardt, Daniel Schrimpf, Felix Sahm, Laila König, Semi Ben Harrabi, Juliane Hörner-Rieber, Vivek Verma, Melanie Bewerunge-Hudler, Andreas Unterberg, Dominik Sturm, Christine Jungk, Christel Herold-Mende, Wolfgang Wick, Andreas von Deimling, Juergen Debus, Stefan Rieken, Amir Abdollahi
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Hemorrhagic lesion with detection of infected endothelial cells in human bornavirus encephalitis Acta Neuropathol. (IF 15.887) Pub Date : 2022-06-03 Friederike Liesche-Starnecker, Martina Schifferer, Jürgen Schlegel, Yannik Vollmuth, Dennis Rubbenstroth, Claire Delbridge, Jens Gempt, Stefan Lorenzl, Lea Schnurbus, Thomas Misgeld, Marco Rosati, Martin Beer, Kaspar Matiasek, Silke Wunderlich, Tom Finck
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Loss of the heterogeneous expression of flippase ATP11B leads to cerebral small vessel disease in a normotensive rat model Acta Neuropathol. (IF 15.887) Pub Date : 2022-05-30 Sophie Quick, Tessa V. Procter, Jonathan Moss, Luise Seeker, Marc Walton, Angus Lawson, Serena Baker, Anna Beletski, Daniela Jaime Garcia, Mehreen Mohammad, William Mungall, Ami Onishi, Zuzanna Tobola, Michael Stringer, Maurits A. Jansen, Antoine Vallatos, Ylenia Giarratano, Miguel O. Bernabeu, Joanna M. Wardlaw, Anna Williams
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Skeletal muscle provides the immunological micro-milieu for specific plasma cells in anti-synthetase syndrome-associated myositis Acta Neuropathol. (IF 15.887) Pub Date : 2022-05-25 Corinna Preuße, Barbara Paesler, Christopher Nelke, Derya Cengiz, Thomas Müntefering, Andreas Roos, Damien Amelin, Yves Allenbach, Akinori Uruha, Carsten Dittmayer, Andreas Hentschel, Marc Pawlitzki, Sarah Hoffmann, Sara Timm, Sarah Leonard Louis, Nora F. Dengler, Heinz Wiendl, Jan D. Lünemann, Albert Sickmann, Baptiste Hervier, Sven G. Meuth, Udo Schneider, Anne Schänzer, Sabine Krause, Stylianos
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FMNL2 regulates gliovascular interactions and is associated with vascular risk factors and cerebrovascular pathology in Alzheimer’s disease Acta Neuropathol. (IF 15.887) Pub Date : 2022-05-24 Annie J. Lee, Neha S. Raghavan, Prabesh Bhattarai, Tohid Siddiqui, Sanjeev Sariya, Dolly Reyes-Dumeyer, Xena E. Flowers, Sarah A. L. Cardoso, Philip L. De Jager, David A. Bennett, Julie A. Schneider, Vilas Menon, Yanling Wang, Rafael A. Lantigua, Martin Medrano, Diones Rivera, Ivonne Z. Jiménez-Velázquez, Walter A. Kukull, Adam M. Brickman, Jennifer J. Manly, Giuseppe Tosto, Caghan Kizil, Badri N.
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Trafficking of the glutamate transporter is impaired in LRRK2-related Parkinson’s disease Acta Neuropathol. (IF 15.887) Pub Date : 2022-05-21 Ludovica Iovino, Veronica Giusti, Francesca Pischedda, Elena Giusto, Nicoletta Plotegher, Antonella Marte, Ilaria Battisti, Angela Di Iacovo, Algerta Marku, Giovanni Piccoli, Rina Bandopadhyay, Carla Perego, Tiziana Bonifacino, Giambattista Bonanno, Cristina Roseti, Elena Bossi, Giorgio Arrigoni, Luigi Bubacco, Elisa Greggio, Sabine Hilfiker, Laura Civiero
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Recurrent ACVR1 mutations in posterior fossa ependymoma Acta Neuropathol. (IF 15.887) Pub Date : 2022-05-19 Drew Pratt, Calixto-Hope G. Lucas, Pavalan Panneer Selvam, Zied Abdullaev, Courtney Ketchum, Martha Quezado, Terri S. Armstrong, Mark R. Gilbert, Antonios Papanicolau-Sengos, Mark Raffeld, Hyoyoung Choo-Wosoba, Priya Chan, Nicholas Whipple, MacLean Nasrallah, Mariarita Santi, Vijay Ramaswamy, Caterina Giannini, Timothy A. Ritzmann, Richard G. Grundy, Anna Burford, Chris Jones, Cynthia Hawkins, Sriram
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Alzheimer disease neuropathology in a patient previously treated with aducanumab Acta Neuropathol. (IF 15.887) Pub Date : 2022-05-17 Edward D. Plowey, Thierry Bussiere, Raj Rajagovindan, Jennifer Sebalusky, Stefan Hamann, Christian von Hehn, Carmen Castrillo-Viguera, Alfred Sandrock, Samantha Budd Haeberlein, Christopher H. van Dyck, Anita Huttner
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Increased NF-L levels in the TDP-43G298S ALS mouse model resemble NF-L levels in ALS patients Acta Neuropathol. (IF 15.887) Pub Date : 2022-05-18 Eva Buck, Patrick Oeckl, Veselin Grozdanov, Verena Bopp, Julia K. Kühlwein, Wolfgang P. Ruf, Diana Wiesner, Francesco Roselli, Jochen H. Weishaupt, Albert C. Ludolph, Markus Otto, Karin M. Danzer
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Evidence of traumatic brain injury in headbutting bovids Acta Neuropathol. (IF 15.887) Pub Date : 2022-05-17 Nicole L. Ackermans, Merina Varghese, Terrie M. Williams, Nicholas Grimaldi, Enna Selmanovic, Akbar Alipour, Priti Balchandani, Joy S. Reidenberg, Patrick R. Hof
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DNA methylation analysis of glioblastomas harboring FGFR3-TACC3 fusions identifies a methylation subclass with better patient survival Acta Neuropathol. (IF 15.887) Pub Date : 2022-05-14 Zhichao Wu, Osorio Lopes Abath Neto, Tejus A. Bale, Jamal Benhamida, Douglas Mata, Rust Turakulov, Zied Abdullaev, Daniel Marker, Courtney Ketchum, Hye-Jung Chung, Caterina Giannini, Martha Quezado, Drew Pratt, Kenneth Aldape
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Neuropathological associations of limbic-predominant age-related TDP-43 encephalopathy neuropathological change (LATE-NC) differ between the oldest-old and younger-old Acta Neuropathol. (IF 15.887) Pub Date : 2022-05-12 Shih-Hsiu J. Wang, Yuanyuan Guo, John F. Ervin, Jay B. Lusk, Sheng Luo
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SCN1A overexpression, associated with a genomic region marked by a risk variant for a common epilepsy, raises seizure susceptibility Acta Neuropathol. (IF 15.887) Pub Date : 2022-05-12 Katri Silvennoinen, Kinga Gawel, Despina Tsortouktzidis, Julika Pitsch, Saud Alhusaini, Karen M. J. van Loo, Richard Picardo, Zuzanna Michalak, Susanna Pagni, Helena Martins Custodio, James Mills, Christopher D. Whelan, Greig I. de Zubicaray, Katie L. McMahon, Wietske van der Ent, Karolina J. Kirstein-Smardzewska, Ettore Tiraboschi, Jonathan M. Mudge, Adam Frankish, Maria Thom, Margaret J. Wright,
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Frequency and distribution of TAR DNA-binding protein 43 (TDP-43) pathology increase linearly with age in a large cohort of older adults with and without dementia Acta Neuropathol. (IF 15.887) Pub Date : 2022-05-10 Arenn F. Carlos, Nirubol Tosakulwong, Stephen D. Weigand, Bradley F. Boeve, David S. Knopman, Ronald C. Petersen, Aivi Nguyen, R. Ross Reichard, Melissa E. Murray, Dennis W. Dickson, Keith A. Josephs
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Ultrastructural and biochemical classification of pathogenic tau, α-synuclein and TDP-43 Acta Neuropathol. (IF 15.887) Pub Date : 2022-05-05 Airi Tarutani, Tadashi Adachi, Hiroyasu Akatsu, Yoshio Hashizume, Kazuko Hasegawa, Yuko Saito, Andrew C. Robinson, David M. A. Mann, Mari Yoshida, Shigeo Murayama, Masato Hasegawa
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AR cooperates with SMAD4 to maintain skeletal muscle homeostasis Acta Neuropathol. (IF 15.887) Pub Date : 2022-05-06 Mitra Forouhan, Wooi Fang Lim, Laura C. Zanetti-Domingues, Christopher J. Tynan, Thomas C. Roberts, Bilal Malik, Raquel Manzano, Alfina A. Speciale, Ruth Ellerington, Antonio Garcia-Guerra, Pietro Fratta, Gianni Sorarú, Linda Greensmith, Maria Pennuto, Matthew J. A. Wood, Carlo Rinaldi
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Unique seeding profiles and prion-like propagation of synucleinopathies are highly dependent on the host in human α-synuclein transgenic mice Acta Neuropathol. (IF 15.887) Pub Date : 2022-04-30 Grace M. Lloyd, Zachary A. Sorrentino, Stephan Quintin, Kimberly-Marie M. Gorion, Brach M. Bell, Giavanna Paterno, Brooke Long, Stefan Prokop, Benoit I. Giasson
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ATRT–SHH comprises three molecular subgroups with characteristic clinical and histopathological features and prognostic significance Acta Neuropathol. (IF 15.887) Pub Date : 2022-04-30 Aniello Federico, Christian Thomas, Katarzyna Miskiewicz, Niklas Woltering, Francesca Zin, Karolina Nemes, Brigitte Bison, Pascal D. Johann, Debra Hawes, Susanne Bens, Uwe Kordes, Steffen Albrecht, Hildegard Dohmen, Peter Hauser, Kathy Keyvani, Frank K. H. van Landeghem, Eva Løbner Lund, David Scheie, Christian Mawrin, Camelia-Maria Monoranu, Benedicte Parm Ulhøi, Torsten Pietsch, Harald Reinhard,
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Heteroplasmic mitochondrial DNA mutations in frontotemporal lobar degeneration Acta Neuropathol. (IF 15.887) Pub Date : 2022-04-30 Yu Nie, Alexander Murley, Zoe Golder, James B. Rowe, Kieren Allinson, Patrick F. Chinnery
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Expanding the phenotype and genotype spectra of PLIN4-associated myopathy with rimmed ubiquitin-positive autophagic vacuolation Acta Neuropathol. (IF 15.887) Pub Date : 2022-05-02 Kang Yang, Yi-Heng Zeng, Yu-Sen Qiu, Feng Lin, Hai-Zhu Chen, Ming Jin, Long Chen, Fu-Ze Zheng, Yuan-Liang Ding, Chun-Yan Cao, Min-Ting Lin, Wan-Jin Chen, Zhi-Qiang Wang, Ning Wang
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APOE4 exacerbates α-synuclein seeding activity and contributes to neurotoxicity in Alzheimer's disease with Lewy body pathology. Acta Neuropathol. (IF 15.887) Pub Date : 2022-04-26 Yunjung Jin,Fuyao Li,Berkiye Sonoustoun,Naveen Chandra Kondru,Yuka A Martens,Wenhui Qiao,Michael G Heckman,Tadafumi C Ikezu,Zonghua Li,Jeremy D Burgess,Danilyn Amerna,Justin O'Leary,Michael A DeTure,Jing Zhao,Pamela J McLean,Dennis W Dickson,Owen A Ross,Guojun Bu,Na Zhao
Approximately half of Alzheimer's disease (AD) brains have concomitant Lewy pathology at autopsy, suggesting that α-synuclein (α-SYN) aggregation is a regulated event in the pathogenesis of AD. Genome-wide association studies revealed that the ε4 allele of the apolipoprotein E (APOE4) gene, the strongest genetic risk factor for AD, is also the most replicated genetic risk factor for Lewy body dementia