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Acta Neuropathologica

Ausgabe 1/2024

Inhalt (76 Artikel)

Original Paper

G2C4 targeting antisense oligonucleotides potently mitigate TDP-43 dysfunction in human C9orf72 ALS/FTD induced pluripotent stem cell derived neurons

Jeffrey D. Rothstein, Victoria Baskerville, Sampath Rapuri, Emma Mehlhop, Paymaan Jafar-Nejad, Frank Rigo, Frank Bennett, Sarah Mizielinska, Adrian Isaacs, Alyssa N. Coyne

Open Access Original Paper

A new subtype of diffuse midline glioma, H3 K27 and BRAF/FGFR1 co-altered: a clinico-radiological and histomolecular characterisation

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

Open Access Original Paper

“De novo replication repair deficient glioblastoma, IDH-wildtype” is a distinct glioblastoma subtype in adults that may benefit from immune checkpoint blockade

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, John de Groot, Nicholas A. Butowski, Jennifer L. Clarke, Susan M. Chang, Mitchel S. Berger, Annette M. Molinaro, David A. Solomon

Original Paper

Loss of TDP-43 splicing repression occurs early in the aging population and is associated with Alzheimer’s disease neuropathologic changes and cognitive decline

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

Open Access Original Paper

Optimal blood tau species for the detection of Alzheimer’s disease neuropathology: an immunoprecipitation mass spectrometry and autopsy study

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 R. Jun, Neil W. Kowall, Robert A. Stern, Lee E. Goldstein, Wei Qiao Qiu, Jesse Mez, Bertrand Russell Huber, Victor E. Alvarez, Ann C. McKee, Henrik Zetterberg, Johan Gobom, Thor D. Stein, Kaj Blennow

Open Access Original Paper

Disruption of MAM integrity in mutant FUS oligodendroglial progenitors from hiPSCs

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

Open Access Original Paper

p-tau Ser356 is associated with Alzheimer’s disease pathology and is lowered in brain slice cultures using the NUAK inhibitor WZ4003

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

Open Access Original Paper

Cortical matrix remodeling as a hallmark of relapsing–remitting neuroinflammation in MR elastography and quantitative MRI

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

Open Access Original Paper

Cryptic splicing of stathmin-2 and UNC13A mRNAs is a pathological hallmark of TDP-43-associated Alzheimer’s disease

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. Oakley, Dennis W. Dickson, Don W. Cleveland, Bradley T. Hyman, Sudeshna Das, Nilüfer Ertekin-Taner, Clotilde Lagier-Tourenne

Open Access Original Paper

Improved prognostic stratification of patients with isocitrate dehydrogenase-mutant astrocytoma

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

Open Access Original Paper

CSF p-tau205: a biomarker of tau pathology in Alzheimer’s disease

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

Open Access Original Paper

Novel lissencephaly-associated NDEL1 variant reveals distinct roles of NDE1 and NDEL1 in nucleokinesis and human cortical malformations

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

Open Access Original Paper

Distinct tau and alpha-synuclein molecular signatures in Alzheimer’s disease with and without Lewy bodies and Parkinson’s disease with dementia

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

Open Access Review

Complement and MHC patterns can provide the diagnostic framework for inflammatory neuromuscular diseases

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

Open Access Original Paper

Pituitary neuroendocrine tumors with PIT1/SF1 co-expression show distinct clinicopathological and molecular features

Matthias Dottermusch, Alice Ryba, Franz L. Ricklefs, Jörg Flitsch, Simone Schmid, Markus Glatzel, Wolfgang Saeger, Julia E. Neumann, Ulrich Schüller

Original Paper

Large-scale validation of skin prion seeding activity as a biomarker for diagnosis of prion diseases

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

Open Access Original Paper

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

Giuseppe Mario Bentivenga, Angela Mammana, Simone Baiardi, Marcello Rossi, Alice Ticca, Franco Magliocchetti, Andrea Mastrangelo, Anna Poleggi, Anna Ladogana, Sabina Capellari, Piero Parchi

Open Access Original Paper

Multi-level profiling unravels mitochondrial dysfunction in myotonic dystrophy type 2

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

Open Access Original Paper

A familial missense variant in the Alzheimer’s disease gene SORL1 impairs its maturation and endosomal sorting

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

Open Access Original Paper

Temporal change of DNA methylation subclasses between matched newly diagnosed and recurrent glioblastoma

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

Open Access Original Paper

Transcriptomic and epigenetic dissection of spinal ependymoma (SP-EPN) identifies clinically relevant subtypes enriched for tumors with and without NF2 mutation

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, Camelia-Maria Monoranu, Hirokazu Takami, Lara Engertsberger, Keisuke Yamada, Viktoria Ruf, Masashi Nomura, Theresa Mohme, Akitake Mukasa, Jochen Herms, Shunsaku Takayanagi, Martin Mynarek, Reiko Matsuura, Katrin Lamszus, Kazuhiko Ishii, Lan Kluwe, Hideaki Imai, Andreas von Deimling, Tsukasa Koike, Martin Benesch, Yoshihiro Kushihara, Matija Snuderl, Shohei Nambu, Stephan Frank, Takaki Omura, Christian Hagel, Kazuha Kugasawa, Viktor F. Mautner, Koichi Ichimura, Stefan Rutkowski, Hiroyuki Aburatani, Nobuhito Saito, Ulrich Schüller

Open Access Original Paper

Clinically relevant molecular hallmarks of PFA ependymomas display intratumoral heterogeneity and correlate with tumor morphology

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

Open Access Original Paper

Molecular characteristics and improved survival prediction in a cohort of 2023 ependymomas

Lara C. Pohl, Maximilian Leitheiser, Denise Obrecht, Leonille Schweizer, Annika K. Wefers, Alicia Eckhardt, Mark Raffeld, Dominik Sturm, Kristian W. Pajtler, Stefan Rutkowski, Kohei Fukuoka, Koichi Ichimura, Michael Bockmayr, Ulrich Schüller

Open Access Original Paper

Head-to-head comparison of [18F]-Flortaucipir, [18F]-MK-6240 and [18F]-PI-2620 postmortem binding across the spectrum of neurodegenerative diseases

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

Open Access Original Paper

Mitochondrial damage and impaired mitophagy contribute to disease progression in SCA6

Tsz Chui Sophia Leung, Eviatar Fields, Namrata Rana, Ru Yi Louisa Shen, Alexandra E. Bernstein, Anna A. Cook, Daniel E. Phillips, Alanna J. Watt

Open Access Original Paper

Similar brain proteomic signatures in Alzheimer’s disease and epilepsy

Dominique Leitner, Geoffrey Pires, Tomas Kavanagh, Evgeny Kanshin, Manor Askenazi, Beatrix Ueberheide, Orrin Devinsky, Thomas Wisniewski, Eleanor Drummond

Open Access Original Paper

Neuroinflammatory disease signatures in SPG11-related hereditary spastic paraplegia patients

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

Open Access Original Paper

Cryptic exon inclusion is a molecular signature of LATE-NC in aging brains

Mingee Chung, E. Kathleen Carter, Austin M. Veire, Eric B. Dammer, Jianjun Chang, Duc M. Duong, Nisha Raj, Gary J. Bassell, Jonathan D. Glass, Tania F. Gendron, Peter T. Nelson, Allan I. Levey, Nicholas T. Seyfried, Zachary T. McEachin

Open Access Correspondence

Scientific commentary on: “Phosphorylated tau in the retina correlates with tau pathology in the brain in Alzheimer’s disease and primary tauopathies”

Frederike C. Oertel, Daniel Casillas, Yann Cobigo, Shivany Condor Montes, Hilary W. Heuer, Makenna Chapman, Alexandra Beaudry-Richard, Henriette Reinsberg, Ahmed Abdelhak, Christian Cordano, Bradley F. Boeve, Bradford C. Dickerson, Murray Grossman, Edward Huey, David J. Irwin, Irene Litvan, Alexander Pantelyat, M. Carmela Tartaglia, Lawren Vandevrede, Adam Boxer, Ari J. Green

Open Access Original Paper

New insights into neuropathology and pathogenesis of autoimmune glial fibrillary acidic protein meningoencephalomyelitis

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

Open Access Original Paper

Transmembrane protein 97 is a potential synaptic amyloid beta receptor in human Alzheimer’s disease

Martí Colom-Cadena, Jamie Toombs, Elizabeth Simzer, Kristjan Holt, Robert McGeachan, Jane Tulloch, Rosemary J. Jackson, James H. Catterson, Maxwell P. Spires-Jones, Jamie Rose, Lora Waybright, Anthony O. Caggiano, Declan King, Francesco Gobbo, Caitlin Davies, Monique Hooley, Sophie Dunnett, Robert Tempelaar, Soraya Meftah, Makis Tzioras, Mary E. Hamby, Nicholas J. Izzo, Susan M. Catalano, Claire S. Durrant, Colin Smith, Owen Dando, Tara L. Spires-Jones

Open Access Editorial

Macrophages and endothelial cells in the neurovascular unit

Jan Wenzel, Markus Schwaninger

Open Access Review

The niche matters: origin, function and fate of CNS-associated macrophages during health and disease

Adrià Dalmau Gasull, Martina Glavan, Sai K. Reddy Samawar, Kishan Kapupara, Joe Kelk, Marina Rubio, Stefano Fumagalli, Lydia Sorokin, Denis Vivien, Marco Prinz

Open Access Review

Endothelial cells and macrophages as allies in the healthy and diseased brain

Adam Denes, Cathrin E. Hansen, Uemit Oezorhan, Sara Figuerola, Helga E. de Vries, Lydia Sorokin, Anna M. Planas, Britta Engelhardt, Markus Schwaninger

Open Access Review

The contribution of β-amyloid, Tau and α-synuclein to blood–brain barrier damage in neurodegenerative disorders

Ying-Chieh Wu, Tizibt Ashine Bogale, Jari Koistinaho, Marina Pizzi, Taisia Rolova, Arianna Bellucci

Open Access Original Paper

Regional AT-8 reactive tau species correlate with intracellular Aβ levels in cases of low AD neuropathologic change

Nauman Malik, Mohi-Uddin Miah, Alessandro Galgani, Kirsty McAleese, Lauren Walker, Fiona E. LeBeau, Johannes Attems, Tiago F. Outeiro, Alan Thomas, David J. Koss

Open Access Original Paper

PP2A and GSK3 act as modifiers of FUS-ALS by modulating mitochondrial transport

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

Correspondence

Aggressive human MenG C meningiomas have a molecular counterpart in canines

Akdes S. Harmanci, Beth Boudreau, Sean Lau, Shervin Hosseingholi Nouri, Jacob J. Mandel, Hsiang-Chih Lu, Arif O. Harmanci, Tiemo J. Klisch, Jonathan M. Levine, Akash J. Patel

Open Access Correspondence

Canine meningiomas are comprised of 3 DNA methylation groups that resemble the molecular characteristics of human meningiomas

Naomi Zakimi, Christina N. Mazcko, Christine Toedebusch, Gregory Tawa, Kevin Woolard, Amy K. LeBlanc, Peter J. Dickinson, David R. Raleigh

Open Access Original Paper

MET receptor serves as a promising target in melanoma brain metastases

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

Original Paper

Cortical-sparing chronic traumatic encephalopathy (CSCTE): a distinct subtype of CTE

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

Original Paper

Myofiber-type-dependent ‘boulder’ or ‘multitudinous pebble’ formations across distinct amylopectinoses

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

Open Access Original Paper

Astroglial calcium signaling and homeostasis in tuberous sclerosis complex

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

Correspondence

Methylation class oligosarcoma, IDH-mutant could exhibit astrocytoma-like molecular features

Lingyu Liu, Yuqing Liu, Jing Chen, Tao Jiang, Xing Liu, Ke-Nan Zhang

Open Access Original Paper

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

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

Open Access Original Paper

The prevalence and topography of spinal cord demyelination in multiple sclerosis: a retrospective study

Alex D. Waldman, Cecilia Catania, Marco Pisa, Mark Jenkinson, Michael J. Lenardo, Gabriele C. DeLuca

Open Access Original Paper

Comprehensive proteomics of CSF, plasma, and urine identify DDC and other biomarkers of early Parkinson’s disease

Jarod Rutledge, Benoit Lehallier, Pardis Zarifkar, Patricia Moran Losada, Marian Shahid-Besanti, Dan Western, Priyanka Gorijala, Sephira Ryman, Maya Yutsis, Gayle K. Deutsch, Elizabeth Mormino, Alexandra Trelle, Anthony D. Wagner, Geoffrey A. Kerchner, Lu Tian, Carlos Cruchaga, Victor W. Henderson, Thomas J. Montine, Per Borghammer, Tony Wyss-Coray, Kathleen L. Poston

Open Access Original Paper

Alteration of LARGE1 abundance in patients and a mouse model of 5q-associated spinal muscular atrophy

Andreas Roos, Linda-Isabell Schmitt, Christina Hansmann, Stefanie Hezel, Schahin Salmanian, Andreas Hentschel, Nancy Meyer, Adela Della Marina, Heike Kölbel, Christoph Kleinschnitz, Ulrike Schara-Schmidt, Markus Leo, Tim Hagenacker

Original Paper

Role of GBA variants in Lewy body disease neuropathology

Ronald L. Walton, Shunsuke Koga, Alexandra I. Beasley, Launia J. White, Teresa Griesacker, Melissa E. Murray, Koji Kasanuki, Xu Hou, Fabienne C. Fiesel, Wolfdieter Springer, Ryan J. Uitti, Julie A. Fields, Hugo Botha, Vijay K. Ramanan, Kejal Kantarci, Val J. Lowe, Clifford R. Jack, Nilufer Ertekin-Taner, Rodolfo Savica, Jonathan Graff-Radford, Ronald C. Petersen, Joseph E. Parisi, R. Ross Reichard, Neill R. Graff-Radford, Tanis J. Ferman, Bradley F. Boeve, Zbigniew K. Wszolek, Dennis W. Dickson, Owen A. Ross, Michael G. Heckman

Open Access Original Paper

MSUT2 regulates tau spreading via adenosinergic signaling mediated ASAP1 pathway in neurons

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

Open Access Original Paper

Neuronal STING activation in amyotrophic lateral sclerosis and frontotemporal dementia

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

Open Access Correspondence

Gene transcript fusions are associated with clinical outcomes and molecular groups of meningiomas

Naomi Zakimi, Minh P. Nguyen, David R. Raleigh

Open Access Original Paper

Disentangling and quantifying the relative cognitive impact of concurrent mixed neurodegenerative pathologies

Carolina Maldonado-Díaz, Satomi Hiya, Raquel T. Yokoda, Kurt Farrell, Gabriel A. Marx, Justin Kauffman, Elena V. Daoud, Mitzi M. Gonzales, Alicia S. Parker, Leyla Canbeldek, Lakshmi Shree Kulumani Mahadevan, John F. Crary, Charles L. White III, Jamie M. Walker, Timothy E. Richardson

Correction

Correction: Abeta targets of the biosimilar antibodies of Bapineuzumab, Crenezumab, Solanezumab in comparison to an antibody against N-truncted Abeta in sporadic Alzheimer disease cases and mouse models

Yvonne Bouter, Jose Socrates Lopez Noguerola, Petra Tucholla, Gabriela A. N. Crespi, Michael W. Parker, Jens Wiltfang, Luke A. Miles, Thomas A. Bayer

Original Paper

A muscarinic receptor antagonist reverses multiple indices of diabetic peripheral neuropathy: preclinical and clinical studies using oxybutynin

Carolina M. Casselini, Henri K. Parson, Katie E. Frizzi, Alex Marquez, Darrell R. Smith, Lucie Guernsey, Rakesh Nemmani, Alireza Tayarani, Corinne G. Jolivalt, Jessica Weaver, Paul Fernyhough, Aaron I. Vinik, Nigel A. Calcutt

Original Paper

TMEM106B coding variant is protective and deletion detrimental in a mouse model of tauopathy

George A. Edwards III, Caleb A. Wood, Yang He, Quynh Nguyen, Peter J. Kim, Ruben Gomez-Gutierrez, Kyung-Won Park, Yong Xu, Cody Zurhellen, Ismael Al-Ramahi, Joanna L. Jankowsky

Original Paper

Loss of TMEM106B exacerbates Tau pathology and neurodegeneration in PS19 mice

Tuancheng Feng, Huan Du, Cha Yang, Ya Wang, Fenghua Hu

Open Access Correction

Correction to: MET receptor serves as a promising target in melanoma brain metastases

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

Open Access Original Paper

Microglial phagolysosome dysfunction and altered neural communication amplify phenotypic severity in Prader-Willi Syndrome with larger deletion

Felipe Correa-da-Silva, Jenny Carter, Xin-Yuan Wang, Rui Sun, Ekta Pathak, José Manuel Monroy Kuhn, Sonja C. Schriever, Clarissa M. Maya-Monteiro, Han Jiao, Martin J. Kalsbeek, Pedro M. M. Moraes-Vieira, Johan J. P. Gille, Margje Sinnema, Constance T. R. M. Stumpel, Leopold M. G. Curfs, Dirk Jan Stenvers, Paul T. Pfluger, Dominik Lutter, Alberto M. Pereira, Andries Kalsbeek, Eric Fliers, Dick F. Swaab, Lawrence Wilkinson, Yuanqing Gao, Chun-Xia Yi

Open Access Original Paper

Landscape of brain myeloid cell transcriptome along the spatiotemporal progression of Alzheimer’s disease reveals distinct sequential responses to Aβ and tau

Astrid Wachter, Maya E. Woodbury, Sylvia Lombardo, Aicha Abdourahman, Carolin Wuest, Emily McGlame, Timothy Pastika, Joseph Tamm, Nandini Romanul, Kiran Yanamandra, Rachel Bennett, Gen Lin, Taekyung Kwon, Fan Liao, Corinna Klein, Yelena Grinberg, Methasit Jaisa-aad, Huan Li, Matthew. P. Frosch, Markus P. Kummer, Sudeshna Das, Tammy Dellovade, Eric H. Karran, Xavier Langlois, Janina S. Ried, Alberto Serrano-Pozo, Robert V. Talanian, Knut Biber, Bradley T. Hyman

Open Access Original Paper

Characterization of monoamine oxidase-B (MAO-B) as a biomarker of reactive astrogliosis in Alzheimer’s disease and related dementias

Methasit Jaisa-aad, Clara Muñoz-Castro, Molly A. Healey, Bradley T. Hyman, Alberto Serrano-Pozo

Open Access Original Paper

Altered TFEB subcellular localization in nigral neurons of subjects with incidental, sporadic and GBA-related Lewy body diseases

Tim E. Moors, Martino L. Morella, Cesc Bertran-Cobo, Hanneke Geut, Vinod Udayar, Evelien Timmermans-Huisman, Angela M. T. Ingrassia, John J. P. Brevé, John G. J. M. Bol, Vincenzo Bonifati, Ravi Jagasia, Wilma D. J. van de Berg

Original Paper

Metabologenomic characterization uncovers a clinically aggressive IDH mutant glioma subtype

Farshad Nassiri, Andrew Ajisebutu, Vikas Patil, Yasin Mamatjan, Jeff Liu, Justin Z. Wang, Mathew R. Voisin, Romina Nejad, Sheila Mansouri, Shirin Karimi, Ankur Chakravarthy, Eric Chen, Daniel D. De Carvalho, Kenneth Aldape, Gelareh Zadeh

Open Access Original Paper

Rare genetic variation in fibronectin 1 (FN1) protects against APOEε4 in Alzheimer’s disease

Prabesh Bhattarai, Tamil Iniyan Gunasekaran, Michael E. Belloy, Dolly Reyes-Dumeyer, Dörthe Jülich, Hüseyin Tayran, Elanur Yilmaz, Delaney Flaherty, Bengisu Turgutalp, Gauthaman Sukumar, Camille Alba, Elisa Martinez McGrath, Daniel N. Hupalo, Dagmar Bacikova, Yann Le Guen, Rafael Lantigua, Martin Medrano, Diones Rivera, Patricia Recio, Tal Nuriel, Nilüfer Ertekin-Taner, Andrew F. Teich, Dennis W. Dickson, Scott Holley, Michael Greicius, Clifton L. Dalgard, Michael Zody, Richard Mayeux, Caghan Kizil, Badri N. Vardarajan

Original Paper

Histologic correlates of “Choroidal abnormalities” in Neurofibromatosis type 1 (NF1)

Anat O. Stemmer-Rachamimov, Liana Kozanno, Scott R. Plotkin, Justin T. Jordan, Joseph F. 3rd Rizzo

Open Access Original Paper

Characterization of NEB pathogenic variants in patients reveals novel nemaline myopathy disease mechanisms and omecamtiv mecarbil force effects

Esmat Karimi, Jochen Gohlke, Mila van der Borgh, Johan Lindqvist, Zaynab Hourani, Justin Kolb, Stacy Cossette, Michael W. Lawlor, Coen Ottenheijm, Henk Granzier

Open Access Original Paper

Abundant transcriptomic alterations in the human cerebellum of patients with a C9orf72 repeat expansion

Evan Udine, Mariely DeJesus-Hernandez, Shulan Tian, Sofia Pereira das Neves, Richard Crook, NiCole A. Finch, Matthew C. Baker, Cyril Pottier, Neill R. Graff-Radford, Bradley F. Boeve, Ronald C. Petersen, David S. Knopman, Keith A. Josephs, Björn Oskarsson, Sandro Da Mesquita, Leonard Petrucelli, Tania F. Gendron, Dennis W. Dickson, Rosa Rademakers, Marka van Blitterswijk

Open Access Correspondence

Nanopore sequencing from formalin-fixed paraffin-embedded specimens for copy-number profiling and methylation-based CNS tumor classification

Ann-Kristin Afflerbach, Anne Albers, Anton Appelt, Leonille Schweizer, Werner Paulus, Michael Bockmayr, Ulrich Schüller, Christian Thomas

Open Access Original Paper

BTK inhibition limits microglia-perpetuated CNS inflammation and promotes myelin repair

Anastasia Geladaris, Sebastian Torke, Darius Saberi, Yasemin B. Alankus, Frank Streit, Sabrina Zechel, Christine Stadelmann-Nessler, Andreas Fischer, Ursula Boschert, Darius Häusler, Martin S. Weber

Original Paper

Stage-dependent immunity orchestrates AQP4 antibody-guided NMOSD pathology: a role for netting neutrophils with resident memory T cells in situ

Akihiro Nakajima, Fumihiro Yanagimura, Etsuji Saji, Hiroshi Shimizu, Yasuko Toyoshima, Kaori Yanagawa, Musashi Arakawa, Mariko Hokari, Akiko Yokoseki, Takahiro Wakasugi, Kouichirou Okamoto, Hirohide Takebayashi, Chihiro Fujii, Kyoko Itoh, Yo-ichi Takei, Shinji Ohara, Mitsunori Yamada, Hitoshi Takahashi, Masatoyo Nishizawa, Hironaka Igarashi, Akiyoshi Kakita, Osamu Onodera, Izumi Kawachi

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Seit 2022 gehört die medbee GmbH zum Springer Medizin Verlag

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