martes, 14 de julio de 2020

Acta Neuropathologica Communications | Articles

Acta Neuropathologica Communications | Articles

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  1. Four molecular types of rare central nervous system (CNS) tumors have been recently identified by gene methylation profiling: CNS Neuroblastoma with FOXR2 activation (CNS NB-FOXR2), CNS Ewing Sarcoma Family Tumor...
    Authors:Maria Łastowska, Joanna Trubicka, Anna Sobocińska, Bartosz Wojtas, Magdalena Niemira, Anna Szałkowska, Adam Krętowski, Agnieszka Karkucińska-Więckowska, Magdalena Kaleta, Maria Ejmont, Marta Perek-Polnik, Bożenna Dembowska-Bagińska, Wiesława Grajkowska and Ewa Matyja
    Citation:Acta Neuropathologica Communications 2020 8:105
    Content type:Research
     
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  2. Authors:A. Tauziède-Espariat, M-A Debily, D. Castel, J. Grill, S. Puget, A. Roux, R. Saffroy, M. Pagès, A. Gareton, F. Chrétien, E. Lechapt, V. Dangouloff-Ros, N. Boddaert and P. Varlet
    Citation:Acta Neuropathologica Communications 2020 8:104
    Content type:Letter to the Editor
     
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  3. Neurons of the nucleus basalis of Meynert (nbM) are vulnerable to Lewy body formation and neuronal loss, which is thought to underlie cognitive dysfunction in Lewy body dementia (LBD). There is continued debat...
    Authors:Christopher Hatton, Amy Reeve, Nichola Zoe Lax, Alasdair Blain, Yi Shiau Ng, Omar El-Agnaf, Johannes Attems, John-Paul Taylor, Doug Turnbull and Daniel Erskine
    Citation:Acta Neuropathologica Communications 2020 8:103
    Content type:Research
     
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  4. Parkinson’s disease is a neurodegenerative disorder characterized by the transmission and accumulation of toxic species of α-synuclein (α-syn). Extracellular vesicles (EVs) are believed to play a vital role in...
    Authors:Lifu Sheng, Tessandra Stewart, Dishun Yang, Eric Thorland, David Soltys, Patrick Aro, Tarek Khrisat, Zhiying Xie, Na Li, Zongran Liu, Chen Tian, Matthew Bercow, Junichi Matsumoto, Cyrus P. Zabetian, Elaine Peskind, Joseph F. Quinn…
    Citation:Acta Neuropathologica Communications 2020 8:102
    Content type:Research
     
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  5. We report a novel group of clinically aggressive spinal cord ependymomas characterized by Grade III histology, MYCN amplification, an absence of NF2 alterations or other recurrent pathogenic mutations, and a uniq...
    Authors:Mark Raffeld, Zied Abdullaev, Svetlana D. Pack, Liqiang Xi, Sushma Nagaraj, Nicole Briceno, Elizabeth Vera, Stefania Pittaluga, Osorio Lopes Abath Neto, Martha Quezado, Kenneth Aldape, Terri S. Armstrong and Mark R. Gilbert
    Citation:Acta Neuropathologica Communications 2020 8:101
    Content type:Research
     
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  6. Cerebral amyloid angiopathy (CAA) is characterized by the deposition of the amyloid β (Aβ) protein in the cerebral vasculature and poses a major risk factor for the development of intracerebral haemorrhages (I...
    Authors:Lieke Jäkel, H. Bea Kuiperij, Lara P. Gerding, Emma E. M. Custers, Emma van den Berg, Wilmar M. T. Jolink, Floris H. B. M. Schreuder, Benno Küsters, Catharina J. M. Klijn and Marcel M. Verbeek
    Citation:Acta Neuropathologica Communications 2020 8:99
    Content type:Research
     
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  7. Degeneration of the primary motor cortex is a defining feature of amyotrophic lateral sclerosis (ALS), which is associated with the accumulation of microscopic protein aggregates in neurons and glia. However, ...
    Authors:Matthew Nolan, Connor Scott, Menuka Pallebage Gamarallage, Daniel Lunn, Kilda Carpenter, Elizabeth McDonough, Dan Meyer, Sireesha Kaanumalle, Alberto Santamaria-Pang, Martin R. Turner, Kevin Talbot and Olaf Ansorge
    Citation:Acta Neuropathologica Communications 2020 8:98
    Content type:Research
     
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  8. Huntington’s disease (HD) is characterized by protein inclusions and loss of striatal neurons which result from expanded CAG repeats in the poly-glutamine (polyQ) region of the huntingtin (HTT) gene. Both polyQ e...
    Authors:Joseph A. White II, Thomas J. Krzystek, Hayley Hoffmar-Glennon, Claire Thant, Katherine Zimmerman, Gary Iacobucci, Julia Vail, Layne Thurston, Saad Rahman and Shermali Gunawardena
    Citation:Acta Neuropathologica Communications 2020 8:97
    Content type:Research
     
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  9. Accumulation of misfolded phosphorylated Tau (Tauopathy) can be triggered by mutations or by trauma, and is associated with synapse loss, gliosis, neurodegeneration and memory deficits. Fyn kinase physically a...
    Authors:Si Jie Tang, Arman Fesharaki-Zadeh, Hideyuki Takahashi, Sarah Helena Nies, Levi M. Smith, Anin Luo, Annabel Chyung, Marius Chiasseu and Stephen M. Strittmatter
    Citation:Acta Neuropathologica Communications 2020 8:96
    Content type:Research
     
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  10. Diffuse leptomeningeal glioneuronal tumor (DLGNT) was introduced, for the first time, as a provisional entity in the 2016 WHO classification of central nervous system tumors. DLGNT mainly occur in children and...
    Authors:Romain Appay, Mélanie Pages, Carole Colin, David T. W. Jones, Pascale Varlet and Dominique Figarella-Branger
    Citation:Acta Neuropathologica Communications 2020 8:95
    Content type:Case report
     
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  11. Autosomal dominant optic atrophy (ADOA) is a neuro-ophthalmic condition characterized by bilateral degeneration of the optic nerves. Although heterozygous mutations in OPA1 represent the most common genetic cause...
    Authors:Valentina Baderna, Joshua Schultz, Lisa S. Kearns, Michael Fahey, Bryony A. Thompson, Jonathan B. Ruddle, Aamira Huq and Francesca Maltecca
    Citation:Acta Neuropathologica Communications 2020 8:93
    Content type:Case report
     
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  12. The choroid plexus (CP) is a highly vascularized structure located in the ventricles that forms the blood-CSF barrier (BCSFB) and separates the blood from the cerebrospinal fluid (CSF). In addition to its role...
    Authors:J. Saul, E. Hutchins, R. Reiman, M. Saul, L. W. Ostrow, B. T. Harris, K. Van Keuren-Jensen, R. Bowser and N. Bakkar
    Citation:Acta Neuropathologica Communications 2020 8:92
    Content type:Research
     
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  13. The RNA binding protein (RBP) RBM45 forms nuclear and cytoplasmic inclusions in neurons and glia in amyotrophic lateral sclerosis (ALS), frontotemporal lobar degeneration with TDP-43 proteinopathy (FTLD-TDP), ...
    Authors:Mahlon Collins, Yang Li and Robert Bowser
    Citation:Acta Neuropathologica Communications 2020 8:91
    Content type:Research
     
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  14. An amendment to this paper has been published and can be accessed via the original article.
    Authors:Liam Kempthorne, Hyejin Yoon, Charlotte Madore, Scott Smith, Zbigniew K. Wszolek, Rosa Rademakers, Jungsu Kim, Oleg Butovsky and Dennis W. Dickson
    Citation:Acta Neuropathologica Communications 2020 8:90
    Content type:Correction
     
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    The original article was published in Acta Neuropathologica Communications 2020 8:72
  15. Enlarged early endosomes have been visualized in Alzheimer’s disease (AD) and Down syndrome (DS) using conventional confocal microscopy at a resolution corresponding to endosomal size (hundreds of nm). In orde...
    Authors:Alexandra Botté, Jeanne Lainé, Laura Xicota, Xavier Heiligenstein, Gaëlle Fontaine, Amal Kasri, Isabelle Rivals, Pollyanna Goh, Orestis Faklaris, Jack-Christophe Cossec, Etienne Morel, Anne-Sophie Rebillat, Dean Nizetic, Graça Raposo and Marie-Claude Potier
    Citation:Acta Neuropathologica Communications 2020 8:89
    Content type:Research
     
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  16. Tau protein abnormally aggregates in tauopathies, a diverse group of neurologic diseases that includes Alzheimer’s disease (AD). In early stages of disease, tau becomes hyperphosphorylated and mislocalized, wh...
    Authors:Yuxing Xia, Stefan Prokop, Kimberly-Marie M. Gorion, Justin D. Kim, Zachary A. Sorrentino, Brach M. Bell, Alyssa N. Manaois, Paramita Chakrabarty, Peter Davies and Benoit I. Giasson
    Citation:Acta Neuropathologica Communications 2020 8:88
    Content type:Research
     
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  17. Molecular biomarkers provide both diagnostic and prognostic results for patients with diffuse glioma, the most common primary brain tumor in adults. Here, we used a long-read nanopore-based sequencing techniqu...
    Authors:Thidathip Wongsurawat, Piroon Jenjaroenpun, Annick De Loose, Duah Alkam, David W. Ussery, Intawat Nookaew, Yuet-Kin Leung, Shuk-Mei Ho, John D. Day and Analiz Rodriguez
    Citation:Acta Neuropathologica Communications 2020 8:87
    Content type:Research
     
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  18. Neurodegenerative diseases are characterized by the accumulation of specific phosphorylated protein aggregates in the brain, such as hyperphosphorylated tau (hp-tau) in tauopathies and phosphorylated α-synucle...
    Authors:Yuta Takaichi, James K. Chambers, Hiroyuki Inoue, Yasuhisa Ano, Akihiko Takashima, Hiroyuki Nakayama and Kazuyuki Uchida
    Citation:Acta Neuropathologica Communications 2020 8:86
    Content type:Research
     
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  19. One of remarkable features of sporadic Creutzfeldt-Jakob disease (sCJD) is the great phenotypic variability. Understanding the molecular basis of this variability has important implications for the development...
    Authors:Satish K. Nemani, Xiangzhu Xiao, Ignazio Cali, Laura Cracco, Gianfranco Puoti, Massimiliano Nigro, Jody Lavrich, Anuradha Bharara Singh, Brian S. Appleby, Valerie L. Sim, Silvio Notari, Witold K. Surewicz and Pierluigi Gambetti
    Citation:Acta Neuropathologica Communications 2020 8:85
    Content type:Research
     
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  20. Multiple Sclerosis (MS) causes neurologic disability due to inflammation, demyelination, and neurodegeneration. Immunosuppressive treatments can modify the disease course but do not effectively promote remyeli...
    Authors:Genevieve M. Sullivan, Andrew K. Knutsen, Luca Peruzzotti-Jametti, Alexandru Korotcov, Asamoah Bosomtwi, Bernard J. Dardzinski, Joshua D. Bernstock, Sandra Rizzi, Frank Edenhofer, Stefano Pluchino and Regina C. Armstrong
    Citation:Acta Neuropathologica Communications 2020 8:84
    Content type:Research
     
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  21. In the human prion disease Creutzfeldt-Jakob disease (CJD), different CJD neuropathological subtypes are defined by the presence in normal prion protein (PrPC) of a methionine or valine at residue 129, by the mol...
    Authors:Anne Ward, Jason R. Hollister, Kristin McNally, Diane L. Ritchie, Gianluigi Zanusso and Suzette A. Priola
    Citation:Acta Neuropathologica Communications 2020 8:83
    Content type:Research
     
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  22. Meningiomas are the most common primary intracranial tumors, but meningioma metastases are rare. Accordingly, the clinical workup, diagnostic testing, and molecular classification of metastatic meningioma is i...
    Authors:Harish N. Vasudevan, Maria R. H. Castro, Julieann C. Lee, Javier E. Villanueva-Meyer, Nancy Ann Oberheim Bush, Michael W. McDermott, David A. Solomon, Arie Perry, Stephen T. Magill and David R. Raleigh
    Citation:Acta Neuropathologica Communications 2020 8:82
    Content type:Case report
     
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  23. Preclinical and clinical proof-of-concept studies have suggested the effectiveness of pharmacological modulation of inflammatory cytokines in ischemic stroke. Experimental evidence shows that targeting tumor n...
    Authors:Bettina H. Clausen, Martin Wirenfeldt, Sofie S. Høgedal, Lars H. Frich, Helle H. Nielsen, Henrik D. Schrøder, Kamilla Østergaard, Bente Finsen, Bjarne W. Kristensen and Kate L. Lambertsen
    Citation:Acta Neuropathologica Communications 2020 8:81
    Content type:Research
     
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  24. BCOR has been recognized as a recurrently altered gene in a subset of pediatric tumors of the central nervous system (CNS). Here, we describe a novel BCOR-CREBBP fusion event in a case of pediatric infiltrating a...
    Authors:David J. Pisapia, Kentaro Ohara, Rohan Bareja, David C. Wilkes, Erika Hissong, Jaclyn A. Croyle, Joon-Hyung Kim, Jad Saab, Theresa Y. MacDonald, Shaham Beg, Catherine O’Reilly, Sarah Kudman, Mark A. Rubin, Olivier Elemento, Andrea Sboner, Jeffrey Greenfield…
    Citation:Acta Neuropathologica Communications 2020 8:80
    Content type:Research
     
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  25. Synaptojanin 1 (SYNJ1) is a brain-enriched lipid phosphatase critically involved in autophagosomal/endosomal trafficking, synaptic vesicle recycling and metabolism of phosphoinositides. Previous studies sugges...
    Authors:Kunie Ando, Marième Ndjim, Sabrina Turbant, Gaëlle Fontaine, Gustavo Pregoni, Luce Dauphinot, Zehra Yilmaz, Valérie Suain, Salwa Mansour, Michèle Authelet, Robert De Dekker, Karelle Leroy, Benoît Delatour, Charles Duyckaerts, Marie-Claude Potier and Jean-Pierre Brion
    Citation:Acta Neuropathologica Communications 2020 8:79
    Content type:Research
     
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  26. Treatment with small-molecule inhibitors, guided by precision medicine has improved patient outcomes in multiple cancer types. However, these compounds are often not effective against central nervous system (C...
    Authors:Armin Sebastian Guntner, Andreas Peyrl, Lisa Mayr, Bernhard Englinger, Walter Berger, Irene Slavc, Wolfgang Buchberger and Johannes Gojo
    Citation:Acta Neuropathologica Communications 2020 8:78
    Content type:Research
     
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  27. Prominent features of HD neuropathology are the intranuclear and cytoplasmic inclusions of huntingtin and striatal and cortical neuronal cell death. Recently, synaptic defects have been reported on HD-related ...
    Authors:Ting-Ting Huang, Ruben Smith, Karl Bacos, Dong-Yan Song, Richard M. Faull, Henry J. Waldvogel and Jia-Yi Li
    Citation:Acta Neuropathologica Communications 2020 8:77
    Content type:Research
     
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  28. Multiple system atrophy (MSA) is a rare adult-onset neurodegenerative disease of unknown cause, with no effective therapeutic options, and no cure. Limited work to date has attempted to characterize the transc...
    Authors:Ignazio S. Piras, Christiane Bleul, Isabelle Schrauwen, Joshua Talboom, Lorida Llaci, Matthew D. De Both, Marcus A. Naymik, Glenda Halliday, Conceicao Bettencourt, Janice L. Holton, Geidy E. Serrano, Lucia I. Sue, Thomas G. Beach, Nadia Stefanova and Matthew J. Huentelman
    Citation:Acta Neuropathologica Communications 2020 8:76
    Content type:Research
     
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  29. Authors:Rie Saito, Hiroshi Shimizu, Takeshi Miura, Norikazu Hara, Naomi Mezaki, Yo Higuchi, Akinori Miyashita, Izumi Kawachi, Kazuhiro Sanpei, Yoshiaki Honma, Osamu Onodera, Takeshi Ikeuchi and Akiyoshi Kakita
    Citation:Acta Neuropathologica Communications 2020 8:75
    Content type:Letter to the Editor
     
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  30. Immunotherapies targeting pathological tau have recently emerged as a promising approach for treatment of neurodegenerative disorders. We have previously showed that the mouse antibody DC8E8 discriminates betw...
    Authors:Monika Zilkova, Anna Nolle, Branislav Kovacech, Eva Kontsekova, Petronela Weisova, Peter Filipcik, Rostislav Skrabana, Michal Prcina, Tomas Hromadka, Ondrej Cehlar, Gabriela Paulikova Rolkova, Denisa Maderova, Michal Novak, Norbert Zilka and Jeroen J. M. Hoozemans
    Citation:Acta Neuropathologica Communications 2020 8:74
    Content type:Research
     
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  31. Infections by opportunistic non-tuberculous mycobacteria (NTM) are rising in global incidence. One emerging, slowly growing NTM is Mycobacterium haemophilum, which can cause skin, lung, bone, and soft tissue infe...
    Authors:Sandra Leskinen, Xena Flowers, Katharina Thoene, Anne-Catrin Uhlemann, James E. Goldman and Richard A. Hickman
    Citation:Acta Neuropathologica Communications 2020 8:73
    Content type:Case report
     
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  32. Microglia are resident macrophages of the central nervous system, and their unique molecular signature is dependent upon CSF-1 signaling. Previous studies have demonstrated the importance of CSF-1R in survival...
    Authors:Liam Kempthorne, Hyejin Yoon, Charlotte Madore, Scott Smith, Zbigniew K. Wszolek, Rosa Rademakers, Jungsu Kim, Oleg Butovsky and Dennis W. Dickson
    Citation:Acta Neuropathologica Communications 2020 8:72
    Content type:Research
     
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    The Correction to this article has been published in Acta Neuropathologica Communications 2020 8:90
  33. Medulloblastoma, a highly malignant pediatric brain tumor, consists of four molecular subgroups, namely WNT, SHH, Group 3, and Group 4. The expression of miR-193a, a WNT subgroup-specific microRNA, was found t...
    Authors:Harish Shrikrishna Bharambe, Annada Joshi, Kedar Yogi, Sadaf Kazi and Neelam Vishwanath Shirsat
    Citation:Acta Neuropathologica Communications 2020 8:70
    Content type:Research
     
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  34. An amendment to this paper has been published and can be accessed via the original article.
    Authors:Antje Arnold, Eddie Luidy Imada, M. Lisa Zhang, Deepak P. Edward, Luigi Marchionni and Fausto J. Rodriguez
    Citation:Acta Neuropathologica Communications 2020 8:69
    Content type:Correction
     
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    The original article was published in Acta Neuropathologica Communications 2020 8:62
  35. Adamantinomatous craniopharyngioma (ACP) is a biologically benign but clinically aggressive lesion that has a significant impact on quality of life. The incidence of the disease has a bimodal distribution, wit...
    Authors:Eric Prince, Ros Whelan, Andrew Donson, Susan Staulcup, Astrid Hengartner, Trinka Vijmasi, Chibueze Agwu, Kevin O. Lillehei, Nicholas K. Foreman, James M. Johnston, Luca Massimi, Richard C. E. Anderson, Mark M. Souweidane, Robert P. Naftel, David D. Limbrick, Gerald Grant…
    Citation:Acta Neuropathologica Communications 2020 8:68
    Content type:Research
     
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  36. Aquaporin-4 (AQP4) has been suggested to be involved in the pathogenesis of neurodegenerative diseases including Alzheimer’s disease (AD), which may be due to the modulation of neuroinflammation or the impairm...
    Authors:Yoichiro Abe, Natsumi Ikegawa, Keitaro Yoshida, Kyosuke Muramatsu, Satoko Hattori, Kenji Kawai, Minetaka Murakami, Takumi Tanaka, Wakami Goda, Motohito Goto, Taichi Yamamoto, Tadafumi Hashimoto, Kaoru Yamada, Terumasa Shibata, Hidemi Misawa, Masaru Mimura…
    Citation:Acta Neuropathologica Communications 2020 8:67
    Content type:Research
     
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  37. Analysis of isolated meninges and cerebrospinal fluid (CSF) of post-mortem MS cases has shown increased gene and protein expression for the pro-inflammatory cytokines: tumour necrosis factor (TNF) and interfer...
    Authors:Rachel E. James, Renee Schalks, Eleanor Browne, Ioanna Eleftheriadou, Carmen Picon Munoz, Nicholas D. Mazarakis and Richard Reynolds
    Citation:Acta Neuropathologica Communications 2020 8:66
    Content type:Research
     
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  38. To test the hypothesis that the cerebrospinal fluid (CSF) could provide a spreading route for pathogenesis of amyotrophic lateral sclerosis (ALS), we have examined the effects of intraventricular infusion duri...
    Authors:Pooja Shree Mishra, Hejer Boutej, Geneviève Soucy, Christine Bareil, Sunny Kumar, Vincent Picher-Martel, Nicolas Dupré, Jasna Kriz and Jean-Pierre Julien
    Citation:Acta Neuropathologica Communications 2020 8:65
    Content type:Research
     
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  39. RNA modifications are emerging as critical regulators in cancer biology, thanks to their ability to influence gene expression and the predominant protein isoforms expressed during cell proliferation, migration...
    Authors:Albert Z. Huang, Alberto Delaidelli and Poul H. Sorensen
    Citation:Acta Neuropathologica Communications 2020 8:64
    Content type:Review
     
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  40. Parkinson’s disease (PD) and atypical parkinsonian syndromes (APS) are symptomatically characterized by parkinsonism, with the latter presenting additionally a distinctive range of atypical features. Although ...
    Authors:Stefanie Smolders and Christine Van Broeckhoven
    Citation:Acta Neuropathologica Communications 2020 8:63
    Content type:Review
     
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  41. Although most commonly benign, neurofibromas (NFs) can have devastating functional and cosmetic effects in addition to the possibility of malignant transformation. In orbitofacial neurofibromatosis type 1, NFs...
    Authors:Antje Arnold, Eddie Luidy Imada, M. Lisa Zhang, Deepak P. Edward, Luigi Marchionni and Fausto J. Rodriguez
    Citation:Acta Neuropathologica Communications 2020 8:62
    Content type:Research
     
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  42. The co-existence of multiple pathologies and proteins is a common feature in the brains of cognitively impaired elderly individuals. Transactive response DNA-binding protein (TDP-43) has been discovered to acc...
    Authors:Sandra O. Tomé, Rik Vandenberghe, Simona Ospitalieri, Evelien Van Schoor, Thomas Tousseyn, Markus Otto, Christine A. F. von Arnim and Dietmar Rudolf Thal
    Citation:Acta Neuropathologica Communications 2020 8:61
    Content type:Research
     
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  43. Amyloid-β (Aβ) associates with extracellular vesicles termed exosomes. It is not clear whether and how exosomes modulate Aβ neurotoxicity in Alzheimer’s disease (AD). We show here that brain tissue and serum f...
    Authors:Ahmed Elsherbini, Alexander S. Kirov, Michael B. Dinkins, Guanghu Wang, Haiyan Qin, Zhihui Zhu, Priyanka Tripathi, Simone M. Crivelli and Erhard Bieberich
    Citation:Acta Neuropathologica Communications 2020 8:60
    Content type:Research
     
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