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Biomarkers and diagnostic guidelines for sporadic Creutzfeldt-Jakob disease.

Peter Hermann, Brian Appleby, Jean-Philippe Brandel, Byron Caughey, Steven Collins, Michael D Geschwind, Alison Green, Stephane Haïk, Gabor G Kovacs, Anna Ladogana, Franc Llorens, Simon Mead, Noriyuki Nishida, Suvankar Pal, Piero Parchi, Maurizio Pocchiari, Katsuya Satoh, Gianluigi Zanusso, Inga Zerr,

Sporadic Creutzfeldt-Jakob disease is a fatal neurodegenerative disease caused by misfolded prion proteins (PrP<sup>Sc</sup>). Effective therapeutics are currently not available and accurate diagnosis can be challenging. Clinical diagnostic criteria use a combination of characteristic neuropsychiatric symptoms, CSF proteins 14-3-3, MRI, and EEG. Supportive biomarkers, such as high CSF total tau, ... Read more >>

Lancet Neurol (The Lancet. Neurology)
[2021, 20(3):235-246]

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Hypothalamic-Bulbar MRI Hyperintensity in Anti-IgLON5 Disease with Serum-Restricted Antibodies: A Case Report and Systematic Review of Literature.

Matteo Tagliapietra, Emma Frasson, Davide Cardellini, Sara Mariotto, Sergio Ferrari, Gianluigi Zanusso, Mauro Plebani, Salvatore Monaco,

<h4>Background</h4>Anti-IgLON5 disease is a rare neurodegenerative tauopathy that displays heterogeneity in clinical spectrum, disease course, cerebrospinal fluid (CSF) findings, and variable response to immunotherapy. Sleep disorders, bulbar dysfunction, and gait abnormalities are common presenting symptoms, and conventional brain MRI scanning is often unrevealing.<h4>Objective</h4>To provide a comprehensive overview of the literature ... Read more >>

J Alzheimers Dis (Journal of Alzheimer's disease : JAD)
[2021, 79(2):683-691]

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Clinical Presentation and Outcomes of Severe Acute Respiratory Syndrome Coronavirus 2-Related Encephalitis: The ENCOVID Multicenter Study.

Andrea Pilotto, Stefano Masciocchi, Irene Volonghi, Massimo Crabbio, Eugenio Magni, Valeria De Giuli, Francesca Caprioli, Nicola Rifino, Maria Sessa, Michele Gennuso, Maria Sofia Cotelli, Marinella Turla, Ubaldo Balducci, Sara Mariotto, Sergio Ferrari, Alfonso Ciccone, Fabrizio Fiacco, Alberto Imarisio, Barbara Risi, Alberto Benussi, Enrico Premi, Emanuele Focà, Francesca Caccuri, Matilde Leonardi, Roberto Gasparotti, Francesco Castelli, Gianluigi Zanusso, Alessandro Pezzini, Alessandro Padovani, ,

<h4>Background</h4>Several preclinical and clinical investigations have argued for nervous system involvement in severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection. Some sparse case reports have described various forms of encephalitis in coronavirus disease 2019 (COVID-19) disease, but very few data have focused on clinical presentations, clinical course, response to treatment, ... Read more >>

J Infect Dis (The Journal of infectious diseases)
[2021, 223(1):28-37]

Cited: 2 times

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SARS-CoV-2 encephalitis is a cytokine release syndrome: evidences from cerebrospinal fluid analyses.

Andrea Pilotto, Stefano Masciocchi, Irene Volonghi, Valeria De Giuli, Francesca Caprioli, Sara Mariotto, Sergio Ferrari, Silvia Bozzetti, Alberto Imarisio, Barbara Risi, Enrico Premi, Alberto Benussi, Emanuele Focà, Francesco Castelli, Gianluigi Zanusso, Salvatore Monaco, Paola Stefanelli, Roberto Gasparotti, Anastasia Zekeridou, Andrew McKeon, Nicholas J Ashton, Kaj Blennov, Henrik Zetterberg, Alessandro Padovani,

<h4>Background</h4>Recent findings indicated that SARS-CoV-2 related neurological manifestations involve cytokine release syndrome along with endothelial activation, blood brain barrier dysfunction, and immune-mediated mechanisms. Very few studies have fully investigated the CSF correlates of SARS-CoV-2 encephalitis.<h4>Methods</h4>Patients with PCR-confirmed SARS-CoV-2 infection and encephalitis (COV-Enc), encephalitis without SARS-CoV-2 infection (ENC) and healthy controls ... Read more >>

Clin Infect Dis (Clinical infectious diseases : an official publication of the Infectious Diseases Society of America)
[2021, :]

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Correction to: Rapid and ultra-sensitive quantitation of disease-associated α-synuclein seeds in brain and cerebrospinal fluid by αSyn RT-QuIC.

Bradley R Groveman, Christina D Orrù, Andrew G Hughson, Lynne D Raymond, Gianluigi Zanusso, Bernardino Ghetti, Katrina J Campbell, Jiri Safar, Douglas Galasko, Byron Caughey,

An amendment to this paper has been published and can be accessed via the original article. ... Read more >>

Acta Neuropathol Commun (Acta neuropathologica communications)
[2020, 8(1):180]

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Ring trial of 2nd generation RT-QuIC diagnostic tests for sporadic CJD.

Christina D Orrú, Bradley R Groveman, Aaron Foutz, Matilde Bongianni, Franco Cardone, Neil McKenzie, Audrey Culeux, Anna Poleggi, Katarina Grznarova, Daniela Perra, Michele Fiorini, Xiaoqin Liu, Anna Ladogana, Marco Sbriccoli, Andrew G Hughson, Stéphane Haïk, Alison J Green, Michael D Geschwind, Maurizio Pocchiari, Jiri G Safar, Gianluigi Zanusso, Byron Caughey,

<h4>Objective</h4>Real-time quaking-induced conversion (RT-QuIC) assays detect prion-seeding activity in a variety of human biospecimens, including cerebrospinal fluid and olfactory mucosa swabs. The assay has shown high diagnostic accuracy in patients with prion disorders. Recently, advances in these tests have led to markedly improved diagnostic sensitivity and reduced assay times. Accordingly, ... Read more >>

Ann Clin Transl Neurol (Annals of clinical and translational neurology)
[2020, 7(11):2262-2271]

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COVID-19 impact on consecutive neurological patients admitted to the emergency department.

Andrea Pilotto, Alberto Benussi, Ilenia Libri, Stefano Masciocchi, Loris Poli, Enrico Premi, Antonella Alberici, Enrico Baldelli, Sonia Bonacina, Laura Brambilla, Matteo Benini, Salvatore Caratozzolo, Matteo Cortinovis, Angelo Costa, Stefano Cotti Piccinelli, Elisabetta Cottini, Viviana Cristillo, Ilenia Delrio, Massimiliano Filosto, Massimo Gamba, Stefano Gazzina, Nicola Gilberti, Stefano Gipponi, Marcello Giunta, Alberto Imarisio, Paolo Liberini, Martina Locatelli, Francesca Schiano, Ranata Rao, Barbara Risi, Luca Rozzini, Andrea Scalvini, Veronica Vergani, Irene Volonghi, Nicola Zoppi, Barbara Borroni, Mauro Magoni, Matilde Leonardi, Gianluigi Zanusso, Sergio Ferrari, Sara Mariotto, Alessandro Pezzini, Roberto Gasparotti, Ciro Paolillo, Alessandro Padovani,

J Neurol Neurosurg Psychiatry (Journal of neurology, neurosurgery, and psychiatry)
[2021, 92(2):218-220]

Cited: 1 time

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Alpha-synuclein seeds in olfactory mucosa of patients with isolated rapid-eye-movement sleep behaviour disorder

Ambra Stefani, Alex Iranzo, Evi Holzknecht, Daniela Perra, Matilde Bongianni, Carles Gaig, Beatrice Heim, Monica Serradell, Luca Sacchetto, Alicia Garrido, Stefano Capaldi, Almudena Sánchez-Gómez, Michele Fiorini, Joachim Schmutzhard, Pietro Cocchiara, Isabel Vilaseca, Lorenzo Brozzetti, Salvatore Monaco, Jose Marti, Klaus Seppi, Eduardo Tolosa, Joan Santamaria, Birgit Högl, Werner Poewe, Gianluigi Zanusso, ,

<h4>ABSTRACT</h4> Isolated REM sleep behaviour disorder is an early-stage α-synucleinopathy in most, if not all, affected subjects. Detection of pathological alpha-synuclein in peripheral tissues of isolated REM sleep behaviour disorder patients may identify those progressing to Parkinson’s disease, dementia with Lewy bodies or multiple system atrophy, with the ultimate goal ... Read more >>

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The clinical spectrum of encephalitis in COVID-19 disease: the ENCOVID multicentre study

Andrea Pilotto, Stefano Masciocchi, Irene Volonghi, Elisabetta del Zotto, Eugenio Magni, Valeria De Giuli, Francesca Caprioli, Nicola Rifino, Maria Sessa, Michele Gennuso, Maria Sofia Cotelli, Marinella Turla, Ubaldo Balducci, Sara Mariotto, Sergio Ferrari, Alfonso Ciccone, Fabrizio Fiacco, Alberto Imarisio, Barbara Risi, Alberto Benussi, Enrico Premi, Emanuele Focà, Francesca Caccuri, Matilde Leonardi, Roberto Gasparotti, Francesco Castelli, Gianluigi Zanusso, Alessandro Pezzini, Alessandro Padovani,

<h4>ABSTRACT</h4> <h4>Importance</h4> Several preclinical and clinical investigations have argued for nervous system involvement in SARS-CoV-2 infection. Some sparse case reports have described various forms of encephalitis in COVID-19 disease, but very few data have focused on clinical presentations, clinical course, response to treatment and outcomes yet. <h4>Objective</h4> to describe the ... Read more >>

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Transmission of CJD from nasal brushings but not spinal fluid or RT-QuIC product.

Gregory J Raymond, Brent Race, Christina D Orrú, Lynne D Raymond, Matilde Bongianni, Michele Fiorini, Bradley R Groveman, Sergio Ferrari, Luca Sacchetto, Andrew G Hughson, Salvatore Monaco, Maurizio Pocchiari, Gianluigi Zanusso, Byron Caughey,

<h4>Objective</h4>The detection of prion seeding activity in CSF and olfactory mucosal brushings using real-time quaking-induced conversion assays allows highly accurate clinical diagnosis of sporadic Creutzfeldt-Jakob disease. To gauge transmission risks associated with these biospecimens and their testing, we have bioassayed prion infectivity levels in patients' brain tissue, nasal brushings, and ... Read more >>

Ann Clin Transl Neurol (Annals of clinical and translational neurology)
[2020, 7(6):932-944]

Cited: 1 time

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Transmission characteristics of heterozygous cases of Creutzfeldt-Jakob disease with variable abnormal prion protein allotypes.

Anne Ward, Jason R Hollister, Kristin McNally, Diane L Ritchie, Gianluigi Zanusso, Suzette A Priola,

In the human prion disease Creutzfeldt-Jakob disease (CJD), different CJD neuropathological subtypes are defined by the presence in normal prion protein (PrP<sup>C</sup>) of a methionine or valine at residue 129, by the molecular mass of the infectious prion protein PrP<sup>Sc</sup>, by the pattern of PrP<sup>Sc</sup> deposition, and by the distribution ... Read more >>

Acta Neuropathol Commun (Acta neuropathologica communications)
[2020, 8(1):83]

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COVID-19 impact on consecutive neurological patients admitted to the emergency department

Andrea Pilotto, Alberto Benussi, Ilenia Libri, Stefano Masciocchi, Loris Poli, Enrico Premi, Antonella Alberici, Enrico Baldelli, Sonia Bonacina, Laura Brambilla, Matteo Benini, Salvatore Caratozzolo, Matteo Cortinovis, Angelo Costa, Stefano Cotti Piccinelli, Elisabetta Cottini, Viviana Cristillo, Ilenia Delrio, Massimiliano Filosto, Massimo Gamba, Stefano Gazzina, Nicola Gilberti, Stefano Gipponi, Marcello Giunta, Alberto Imarisio, Paolo Liberini, Martina Locatelli, Francesca Schiano di Cola, Renata Rao, Barbara Risi, Luca Rozzini, Andrea Scalvini, Veronica Vergani, Irene Volonghi, Nicola Zoppi, Barbara Borroni, Mauro Magoni, Matilde Leonardi, Gianluigi Zanusso, Sergio Ferrari, Sara Mariotto, Alessandro Pezzini, Roberto Gasparotti, Ciro Paolillo, Alessandro Padovani,

<h4>Objective</h4> Aim of this study was to analyse the impact of COVID-19 on clinical and laboratory findings and outcome of neurological patients consecutively admitted to the emergency department (ED) of a tertiary hub center. <h4>Methods</h4> All adult patients consecutively admitted to the ED for neurological manifestations from February 20 th ... Read more >>

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Neurodegeneration-Associated Proteins in Human Olfactory Neurons Collected by Nasal Brushing.

Lorenzo Brozzetti, Luca Sacchetto, Maria Paola Cecchini, Anna Avesani, Daniela Perra, Matilde Bongianni, Corinne Portioli, Maria Scupoli, Bernardino Ghetti, Salvatore Monaco, Mario Buffelli, Gianluigi Zanusso,

The olfactory neuroepithelium is located in the upper vault of the nasal cavity, lying on the olfactory cleft and projecting into the dorsal portion of the superior and middle turbinates beyond the mid-portion of the nasal septum. It is composed of a variety of cell types including olfactory sensory neurons, ... Read more >>

Front Neurosci (Frontiers in neuroscience)
[2020, 14:145]

Cited: 3 times

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A single ultrasensitive assay for detection and discrimination of tau aggregates of Alzheimer and Pick diseases.

Michael A Metrick, Natália do Carmo Ferreira, Eri Saijo, Allison Kraus, Kathy Newell, Gianluigi Zanusso, Michele Vendruscolo, Bernardino Ghetti, Byron Caughey,

Multiple neurodegenerative diseases are characterized by aggregation of tau molecules. Adult humans express six isoforms of tau that contain either 3 or 4 microtubule binding repeats (3R or 4R tau). Different diseases involve preferential aggregation of 3R (e.g Pick disease), 4R (e.g. progressive supranuclear palsy), or both 3R and 4R ... Read more >>

Acta Neuropathol Commun (Acta neuropathologica communications)
[2020, 8(1):22]

Cited: 6 times

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High Diagnostic Accuracy of RT-QuIC Assay in a Prospective Study of Patients with Suspected sCJD.

Michele Fiorini, Giorgia Iselle, Daniela Perra, Matilde Bongianni, Stefano Capaldi, Luca Sacchetto, Sergio Ferrari, Aldo Mombello, Sarah Vascellari, Silvia Testi, Salvatore Monaco, Gianluigi Zanusso,

The early and accurate in vivo diagnosis of sporadic Creutzfeldt-Jakob disease (sCJD) is essential in order to differentiate CJD from treatable rapidly progressive dementias. Diagnostic investigations supportive of clinical CJD diagnosis include magnetic resonance imaging (MRI), electroencephalogram (EEG), 14-3-3 protein detection, and/or real-time quaking-induced conversion (RT-QuIC) assay positivity in the ... Read more >>

Int J Mol Sci (International journal of molecular sciences)
[2020, 21(3):]

Cited: 3 times

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Correction to: 4-Repeat tau seeds and templating subtypes as brain and CSF biomarkers of frontotemporal lobar degeneration.

Eri Saijo, Michael A Metrick, Shunsuke Koga, Piero Parchi, Irene Litvan, Salvatore Spina, Adam Boxer, Julio C Rojas, Douglas Galasko, Allison Kraus, Marcello Rossi, Kathy Newell, Gianluigi Zanusso, Lea T Grinberg, William W Seeley, Bernardino Ghetti, Dennis W Dickson, Byron Caughey,

The original version of this article unfortunately contained a mistake. The Panel A in the published figure 5 is incorrect. The corrected Figure 5 is placed in the following page. ... Read more >>

Acta Neuropathol (Acta neuropathologica)
[2020, 139(1):79-81]

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Anti-Cholinergic Derangement of Cortical Metabolism on 18F-FDG PET in a Patient with Frontotemporal Lobar Degeneration Dementia: A Case of the TREDEM Registry.

Maurizio Gallucci, Claudia Pallucca, Maria Elena Di Battista, Cristina Bergamelli, Vittorio Fiore, Franco Boccaletto, Michele Fiorini, Daniela Perra, Gianluigi Zanusso, Chiara Fenoglio, Maria Serpente, Daniela Galimberti, Laura Bonanni,

We present the case of a patient with an atypical course of frontotemporal lobar degeneration (FTLD) complicated by the use of an anticholinergic drug. A 70-year-old patient, followed by psychiatrists for depression and behavioral disorders, received a diagnosis of dementia with Lewy bodies (DLB) at another Center due to auditory ... Read more >>

J Alzheimers Dis (Journal of Alzheimer's disease : JAD)
[2020, 74(4):1107-1117]

Cited: 0 times

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Myelin uncompaction and axo-glial detachment in chronic ataxic neuropathy with monospecific IgM antibody to ganglioside GD1b.

Matteo Tagliapietra, Gianluigi Zanusso, Sergio Ferrari, Riccardo Orlandi, Laura Bertolasi, Tiziana Cavallaro, Salvatore Monaco,

To describe clinical features, disease course, treatment response, and sural nerve biopsy findings in a patient with chronic sensory ataxic neuropathy, Binet stage A chronic lymphocytic leukemia, and monoclonal IgMλ paraprotein against ganglioside GD1b. During 9 months of hospitalization at two neurologic centers, the patient underwent serial neurologic examinations, neurophysiologic ... Read more >>

J Peripher Nerv Syst (Journal of the peripheral nervous system : JPNS)
[2020, 25(1):54-59]

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Million-fold sensitivity enhancement in proteopathic seed amplification assays for biospecimens by Hofmeister ion comparisons.

Michael A Metrick, Natalia do Carmo Ferreira, Eri Saijo, Andrew G Hughson, Allison Kraus, Christina Orrú, Michael W Miller, Gianluigi Zanusso, Bernardino Ghetti, Michele Vendruscolo, Byron Caughey,

Recent work with prion diseases and synucleinopathies indicates that accurate diagnostic methods for protein-folding diseases can be based on the ultrasensitive, amplified measurement of pathological aggregates in biospecimens. A better understanding of the physicochemical factors that control the seeded polymerization of such aggregates, and their amplification in vitro, should allow ... Read more >>

Proc Natl Acad Sci U S A (Proceedings of the National Academy of Sciences of the United States of America)
[2019, 116(46):23029-23039]

Cited: 8 times

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4-Repeat tau seeds and templating subtypes as brain and CSF biomarkers of frontotemporal lobar degeneration.

Eri Saijo, Michael A Metrick, Shunsuke Koga, Piero Parchi, Irene Litvan, Salvatore Spina, Adam Boxer, Julio C Rojas, Douglas Galasko, Allison Kraus, Marcello Rossi, Kathy Newell, Gianluigi Zanusso, Lea T Grinberg, William W Seeley, Bernardino Ghetti, Dennis W Dickson, Byron Caughey,

To address the need for more meaningful biomarkers of tauopathies, we have developed an ultrasensitive tau seed amplification assay (4R RT-QuIC) for the 4-repeat (4R) tau aggregates of progressive supranuclear palsy (PSP), corticobasal degeneration (CBD), and other diseases with 4R tauopathy. The assay detected seeds in 10<sup>6</sup>-10<sup>9</sup>-fold dilutions of 4R ... Read more >>

Acta Neuropathol (Acta neuropathologica)
[2020, 139(1):63-77]

Cited: 11 times

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α-Synuclein RT-QuIC assay in cerebrospinal fluid of patients with dementia with Lewy bodies.

Matilde Bongianni, Anna Ladogana, Stefano Capaldi, Sigrid Klotz, Simone Baiardi, Annachiara Cagnin, Daniela Perra, Michele Fiorini, Anna Poleggi, Giuseppe Legname, Tatiana Cattaruzza, Francesco Janes, Massimo Tabaton, Bernardino Ghetti, Salvatore Monaco, Gabor G Kovacs, Piero Parchi, Maurizio Pocchiari, Gianluigi Zanusso,

We applied RT-QuIC assay to detect α-synuclein aggregates in cerebrospinal fluid (CSF) of patients with suspected Creutzfeldt-Jakob disease who had a neuropathological diagnosis of dementia with Lewy bodies (DLB) (n = 7), other neurodegenerative diseases with α-synuclein mixed pathology (n = 20), or without Lewy-related pathology (n = 49). The test had a sensitivity of 92.9% ... Read more >>

Ann Clin Transl Neurol (Annals of clinical and translational neurology)
[2019, 6(10):2120-2126]

Cited: 5 times

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Sporadic Creutzfeldt-Jakob disease prion infection of human cerebral organoids.

Bradley R Groveman, Simote T Foliaki, Christina D Orru, Gianluigi Zanusso, James A Carroll, Brent Race, Cathryn L Haigh,

For the transmissible, neurogenerative family of prion diseases, few human models of infection exist and none represent structured neuronal tissue. Human cerebral organoids are self-organizing, three-dimensional brain tissues that can be grown from induced pluripotent stem cells. Organoids can model aspects of neurodegeneration in Alzheimer's Disease and Down's Syndrome, reproducing ... Read more >>

Acta Neuropathol Commun (Acta neuropathologica communications)
[2019, 7(1):90]

Cited: 13 times

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Serum and CSF neurofilament light chain levels in antibody-mediated encephalitis.

Sara Mariotto, Alberto Gajofatto, Luigi Zuliani, Marco Zoccarato, Matteo Gastaldi, Diego Franciotta, Gaetano Cantalupo, Francesca Piardi, Alberto Polo, Daniela Alberti, Stefano Sartori, Gianluigi Zanusso, Luigi Agrò, Rita Demurtas, GianPietro Sechi, Elia Sechi, Salvatore Monaco, Sergio Ferrari,

Circulating and cerebrospinal fluid (CSF) neurofilament light chain (NfL) levels represent a reliable indicator of disease activity and axonal damage in different neuroinflammatory conditions. Recently, high CSF NfL levels have been detected in active autoimmune encephalitis, as opposed to significant lower levels after clinical improvement. The aim of the present ... Read more >>

J Neurol (Journal of neurology)
[2019, 266(7):1643-1648]

Cited: 1 time

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HIV-1 detection in the olfactory mucosa of HIV-1-infected participants.

Luca Bertero, Sarah Beth Joseph, Mattia Trunfio, Tiziano Allice, Sebastiano Catera, Daniele Imperiale, Paola Cassoni, Laura Pesci Kincer, Veronica Pirriatore, Valeria Ghisetti, Enrica Amasio, Gianluigi Zanusso, Stefano Bonora, Giovanni Di Perri, Andrea Calcagno,

<h4>Objective</h4>HIV infection chronically affects the central nervous system (CNS). Olfactory mucosa is a unique site in the respiratory tract that is directly connected to the CNS; thus we wanted to evaluate olfactory mucosa as a surrogate of CNS sampling.<h4>Design</h4>We conducted a preliminary study examining HIV populations and susceptible cells in ... Read more >>

AIDS (AIDS (London, England))
[2019, 33(4):665-674]

Cited: 0 times

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Seeding selectivity and ultrasensitive detection of tau aggregate conformers of Alzheimer disease.

Allison Kraus, Eri Saijo, Michael A Metrick, Kathy Newell, Christina J Sigurdson, Gianluigi Zanusso, Bernardino Ghetti, Byron Caughey,

Alzheimer disease (AD) and chronic traumatic encephalopathy (CTE) involve the abnormal accumulation in the brain of filaments composed of both three-repeat (3R) and four-repeat (4R) (3R/4R) tau isoforms. To probe the molecular basis for AD's tau filament propagation and to improve detection of tau aggregates as potential biomarkers, we have ... Read more >>

Acta Neuropathol (Acta neuropathologica)
[2019, 137(4):585-598]

Cited: 19 times

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