25 Works

Data from: A positively selected APOBEC3H haplotype is associated with natural resistance to HIV-1 infection

Rachele Cagliani, Stefania Riva, Matteo Fumagalli, Mara Biasin, Sergio Lo Caputo, Francesco Mazzotta, Luca Piacentini, Uberto Pozzoli, Nereo Bresolin, Mario Clerici & Manuela Sironi
APOBEC3 genes encode cytidine deaminases endowed with the ability to inhibit retroviruses and retrotransposons. These genes have been targets of natural selection throughout primate evolutionary history. We analysed their selection pattern in human populations observing that APOBEC3F and 3G are neutrally evolving. Conversely, nucleotide diversity was extremely high for APOBEC3H, and most tests rejected the hypothesis of selective neutrality in Eurasian populations. Haplotype analysis and the derived intra-allelic nucleotide diversity test indicated that positive selection...

Data from: A phase 3 randomized study evaluating sialic acid extended-release for GNE myopathy

Hanns Lochmüller, Anthony Behin, Yoseph Caraco, Heather Lau, Massimiliano Mirabella, Ivailo Tournev, Mark Tarnopolsky, Oksana Pogoryelova, Catherine Woods, Alexander Lai, Jinay Shah, Tony Koutsoukos, Alison Skrinar, Hank Mansbach, Emil Kakkis & Tahseen Mozaffar
Objective: To investigate the efficacy and safety of aceneuramic acid extended-release (Ace-ER), a treatment intended to replace deficient sialic acid, in patients with GNE myopathy. Methods: UX001-CL301 was a Phase 3, double-blind, placebo-controlled, randomized, international study evaluating the efficacy and safety of Ace-ER in patients with GNE Myopathy. Participants who could walk ≥200 meters in a 6-minute walk test at screening were randomized 1:1, and stratified by sex, to receive Ace-ER 6g/day or placebo for...

Additional file 3 of Proteomic analysis identifies a signature of disease severity in the plasma of COVID-19 pneumonia patients associated to neutrophil, platelet and complement activation

Fabiola Ciccosanti, Manuela Antonioli, Alessandra Sacchi, Stefania Notari, Anna Farina, Alessia Beccacece, Marisa Fusto, Alessandra Vergori, Gianpiero D’Offizi, Fabrizio Taglietti, Andrea Antinori, Emanuele Nicastri, Luisa Marchioni, Fabrizio Palmieri, Giuseppe Ippolito, Mauro Piacentini, Chiara Agrati & Gian Maria Fimia
Additional file 3: Table S3: MaxQuant software identification of proteins from plasma of COVID-19 patients.

Additional file 6 of Proteomic analysis identifies a signature of disease severity in the plasma of COVID-19 pneumonia patients associated to neutrophil, platelet and complement activation

Fabiola Ciccosanti, Manuela Antonioli, Alessandra Sacchi, Stefania Notari, Anna Farina, Alessia Beccacece, Marisa Fusto, Alessandra Vergori, Gianpiero D’Offizi, Fabrizio Taglietti, Andrea Antinori, Emanuele Nicastri, Luisa Marchioni, Fabrizio Palmieri, Giuseppe Ippolito, Mauro Piacentini, Chiara Agrati & Gian Maria Fimia
Additional file 6: Table S6: Cluster analysis of proteins modulated in the plasma of COVID-19 patients.

Data from: Acute modulation of brain connectivity in Parkinson disease after Automatic Mechanical Peripheral Stimulation: a pilot study

Carlo Cosimo Quattrocchi, Maria Francesca De Pandis, Claudia Piervincenzi, Manuela Galli, Jean Marc Melgari, Gaetano Salomone, Patrizio Sale, Carlo Augusto Mallio, Filippo Carducci & Fabrizio Stocchi
Objective: The present study shows the results of a double-blind sham-controlled pilot trial to test whether measurable stimulus-specific functional connectivity changes exist after Automatic Mechanical Peripheral Stimulation (AMPS) in patients with idiopathic Parkinson Disease. Methods: Eleven patients (6 women and 5 men) with idiopathic Parkinson Disease underwent brain fMRI immediately before and after sham or effective AMPS. Resting state Functional Connectivity (RSFC) was assessed using the seed-ROI based analysis. Seed ROIs were positioned on basal...

Data from: Intraneural stimulation elicits discrimination of textural features by artificial fingertip in intact and amputee humans

Calogero Maria Oddo, Stanisa Raspopovic, Fiorenzo Artoni, Alberto Mazzoni, Giacomo Spigler, Francesco Petrini, Giambattistelli Federica, Vecchio Fabrizio, Miraglia Francesca, Zollo Loredana, Giovanni Di Pino, Domenico Camboni, Maria Chiara Carrozza, Eugenio Guglielmelli, Paolo Maria Rossini, Ugo Faraguna & Silvestro Micera
Restoration of touch after hand amputation is a desirable feature of ideal prostheses. Here, we show that texture discrimination can be artificially provided in human subjects by implementing a neuromorphic real-time mechano-neuro-transduction (MNT), which emulates to some extent the firing dynamics of SA1 cutaneous afferents. The MNT process was used to modulate the temporal pattern of electrical spikes delivered to the human median nerve via percutaneous microstimulation in four intact subjects and via implanted intrafascicular...

Data from: Response to short-term deprivation of the human adult visual cortex measured with 7T BOLD

Paola Binda, Jan W. Kurzawski, Claudia Lunghi, Laura Biagi, Michela Tosetti & Maria Concetta Morrone
Sensory deprivation during the post-natal "critical period" leads to structural reorganization of the developing visual cortex. In adulthood, the visual cortex retains some flexibility and adapts to sensory deprivation. Here we show that short-term (2h) monocular deprivation in adult humans boosts the BOLD response to the deprived eye, changing ocular dominance of V1 vertices, consistent with homeostatic plasticity. The boost is strongest in V1, present in V2, V3 &V4 but absent in V3a and hMT+....

Data from: Randomized phase 2 study of FcRn antagonist efgartigimod in generalized myasthenia gravis

James F. Howard, Vera Bril, Ted M. Burns, Renato Mantegazza, Malgorzata Bilinska, Andrzej Szczudlik, Said Beydoun, Francisco Javier Rodriguez De Rivera Garrido, Fredrik Piehl, Mariarosa Rottoli, Philip Van Damme, Tuan Vu, Amelia Evoli, Miriam Freimer, Tahseen Mozaffar, E. Sally Ward, Torsten Dreier, Peter Ulrichts, Katrien Verschueren, Antonio Guglietta, Hans De Haard, Nicolas Leupin & Jan J. G. M. Verschuuren
Objective: To investigate safety and explore efficacy of efgartigimod (ARGX-113), an anti-neonatal Fc receptor immunoglobulin G1 Fc fragment, in patients with generalized myasthenia gravis (gMG) with a history of anti-acetylcholine receptor (AChR) autoantibodies, who were on stable standard-of-care myasthenia gravis (MG) treatment. Methods: A phase 2, exploratory, randomized, double-blind, placebo-controlled, 15-center study is described. Eligible patients were randomly assigned (1:1) to receive 4 doses over a 3-week period of either 10 mg/kg IV efgartigimod or...

Additional file 2 of Proteomic analysis identifies a signature of disease severity in the plasma of COVID-19 pneumonia patients associated to neutrophil, platelet and complement activation

Fabiola Ciccosanti, Manuela Antonioli, Alessandra Sacchi, Stefania Notari, Anna Farina, Alessia Beccacece, Marisa Fusto, Alessandra Vergori, Gianpiero D’Offizi, Fabrizio Taglietti, Andrea Antinori, Emanuele Nicastri, Luisa Marchioni, Fabrizio Palmieri, Giuseppe Ippolito, Mauro Piacentini, Chiara Agrati & Gian Maria Fimia
Additional file 2: Tables S2: MaxQuant software analysis of peptides detected by mass spectrometry from plasma of COVID-19 patients.

Additional file 5 of Proteomic analysis identifies a signature of disease severity in the plasma of COVID-19 pneumonia patients associated to neutrophil, platelet and complement activation

Fabiola Ciccosanti, Manuela Antonioli, Alessandra Sacchi, Stefania Notari, Anna Farina, Alessia Beccacece, Marisa Fusto, Alessandra Vergori, Gianpiero D’Offizi, Fabrizio Taglietti, Andrea Antinori, Emanuele Nicastri, Luisa Marchioni, Fabrizio Palmieri, Giuseppe Ippolito, Mauro Piacentini, Chiara Agrati & Gian Maria Fimia
Additional file 5: Table S5: Analysis of biological processes associated to the proteins altered in COVID-19 patients.

The awareness, visibility and support for young carers across Europe: a Delphi study

Henk Herman Nap, Renske Hoefman, Nynke De Jong, Lieke Lovink, Ludo Glimmerveen, Feylyn Lewis, Sara Santini, Barbara D’Amen, Marco Socci, Licia Boccaletti, Giulia Casu, Alessandra Manattini, Rosita Brolin, Karina Sirk, Valentina Hlebec, Tatjana Rakar, Tjasa Hudobivnik, Agnes Leu, Fabian Berger, Lennart Magnusson & Elizabeth Hanson
Across Europe, young carers (YCs) and their need for support receive limited attention in the media, policy and empirical research, even though, similar to adult carers, they also provide care to ill family members. The Delphi study, a qualitative research methodology, which provides the focus for this article, had the overall aim of exploring existing successful strategies to support YCs. Compared to YCs, even less is known about adolescent young carers (AYCs), a group that...

NEXMIF encephalopathy: DeNovogear output of WES data of the family

Maria Cristina Cioclu, Antonietta Coppola, Manuela Tondelli, Anna Elisabetta Vaudano, Giada Giovannini, S. Krithika, Michele Iacomino, Federico Zara, Sanjay Sisodiya & Stefano Meletti
The developmental and epileptic encephalopathies (DEE) are the most severe group of epilepsies. Recently, NEXMIF mutations have been shown to cause a DEE in females, characterized by myoclonic–atonic epilepsy and recurrent nonconvulsive status. Here we used advanced neuroimaging techniques in a patient with a novel NEXMIF de novo mutation presenting with recurrent absence status with eyelid myoclonia, to reveal brain structural and functional changes that can bring the clinical phenotype to alteration within specific brain...

Data from: The speed–curvature power law in Drosophila larval locomotion

Myrka Zago, Francesco Lacquaniti & Alex Gomez-Marin
We report the discovery that the locomotor trajectories of Drosophila larvae follow the power-law relationship between speed and curvature previously found in the movements of human and non-human primates. Using high-resolution behavioural tracking in controlled but naturalistic sensory environments, we tested the law in maggots tracing different trajectory types, from reaching-like movements to scribbles. For most but not all flies, we found that the law holds robustly, with an exponent close to three-quarters rather than...

Data from: Prognostic relevance of cortical superficial siderosis in cerebral amyloid angiopathy

Frank Arne Wollenweber, Christian Opherk, Marialuisa Zedde, Cihan Catak, Rainer Malik, Marco Duering, Marek Janusz Konieczny, Rosario Pascarella, Raquel Samoes, Manuel Correia, Joan Martí-Fàbregas, Jennifer Linn & Martin Dichgans
Objective: To investigate the prognostic relevance of cortical superficial siderosis (cSS) in patients with cerebral amyloid angiopathy (CAA). Methods: 302 patients fulfilling the modified Boston criteria for probable or possible CAA were enrolled into a prospective, multicenter cohort study and followed for 12 months. cSS was assessed on T2*/SWI MRI. The predefined primary composite endpoint was incident stroke or death in patients with cSS compared to those without. Secondary analyses included cerebrovascular events and functional...

Data from: Evolutionary analysis of Old World arenaviruses reveals a major adaptive contribution of the viral polymerase

Chiara Pontremoli, Diego Forni, Rachele Cagliani, Uberto Pozzoli, Stefania Riva, Ignacio G. Bravo, Mario Clerici & Manuela Sironi
The Old World (OW) arenavirus complex includes several species of rodent-borne viruses, some of which (i.e., Lassa virus, LASV and Lymphocytic choriomeningitis virus, LCMV) cause human diseases. Most LCMV and LASV infections are caused by rodent-to-human transmissions. Thus, viral evolution is largely determined by events that occur in the wildlife reservoirs. We used a set of human- and rodent-derived viral sequences to investigate the evolutionary history underlying OW arenavirus speciation, as well as the more...

Additional file 4 of Proteomic analysis identifies a signature of disease severity in the plasma of COVID-19 pneumonia patients associated to neutrophil, platelet and complement activation

Fabiola Ciccosanti, Manuela Antonioli, Alessandra Sacchi, Stefania Notari, Anna Farina, Alessia Beccacece, Marisa Fusto, Alessandra Vergori, Gianpiero D’Offizi, Fabrizio Taglietti, Andrea Antinori, Emanuele Nicastri, Luisa Marchioni, Fabrizio Palmieri, Giuseppe Ippolito, Mauro Piacentini, Chiara Agrati & Gian Maria Fimia
Additional file 4: Table S4: Proteins with statistically different levels in COVID-19 patients.

Data from: An evolutionary history of the selectin gene cluster in humans

Manuela Sironi, Matteo Fumagalli, Marco Fracassetti, Rachele Cagliani, Diego Forni, Uberto Pozzoli, Giacomo P. Comi, Federico Marini, Nereo Bresolin & Mario Clerici
Molecules involved in leukocyte trafficking have a central role in the development of inflammatory and immune responses. We performed FST analysis of the selectin cluster, as well as of SELPLG, ICAM1 and VCAM1. Peaks of significantly high population genetic differentiation were restricted to two regions in SELP and one in SELPLG. Resequencing data indicated that the region covering SELP exons 11–13 displays high nucleotide diversity in Africans and Europeans (CEU), and a high level of...

Data from: The mammalian complement system as an epitome of host–pathogen genetic conflicts

Rachele Cagliani, Diego Forni, Giulia Filippi, Alessandra Mozzi, Luca De Gioia, Chiara Pontremoli, Uberto Pozzoli, Nereo Bresolin, Mario Clerici & Manuela Sironi
The complement system is an innate immunity effector mechanism; its action is antagonized by a wide array of pathogens and complement evasion determines the virulence of several infections. We investigated the evolutionary history of the complement system and of bacterial-encoded complement-interacting proteins. Complement components targeted by several pathogens evolved under strong selective pressure in primates, with selection acting on residues at the contact interface with microbial/viral proteins. Positively selected sites in CFH and C4BPA account...

Reliable change indices for the Italian Edinburgh Cognitive and Behavioral ALS Screen (ECAS)

Edoardo Nicolò Aiello, Federica Solca, Silvia Torre, Laura Carelli, Alessia Monti, Roberta Ferrucci, Federico Verde, Nicola Ticozzi, Vincenzo Silani & Barbara Poletti
This study aimed at providing standardized regression-based (SRB) reliable change indices (RCIs) for the Italian Edinburgh Cognitive and Behavioral ALS Screen (ECAS). Thirty-one consecutive ALS patients undergoing the ECAS were followed-up (T1) at 6.5 ± 1 months (range = 5–8). Ceiling/floor effects, practice effect, and test–retest reliability were assessed. Each ECAS measure was regressed by stepwise-entering as predictors demographics, respective T0 scores, T0 disease duration and ALSFRS-R, retest interval, and progression rate (ΔFS) – i.e.,...

Reliable change indices for the Italian Edinburgh Cognitive and Behavioral ALS Screen (ECAS)

Edoardo Nicolò Aiello, Federica Solca, Silvia Torre, Laura Carelli, Alessia Monti, Roberta Ferrucci, Federico Verde, Nicola Ticozzi, Vincenzo Silani & Barbara Poletti
This study aimed at providing standardized regression-based (SRB) reliable change indices (RCIs) for the Italian Edinburgh Cognitive and Behavioral ALS Screen (ECAS). Thirty-one consecutive ALS patients undergoing the ECAS were followed-up (T1) at 6.5 ± 1 months (range = 5–8). Ceiling/floor effects, practice effect, and test–retest reliability were assessed. Each ECAS measure was regressed by stepwise-entering as predictors demographics, respective T0 scores, T0 disease duration and ALSFRS-R, retest interval, and progression rate (ΔFS) – i.e.,...

Additional file 4 of Proteomic analysis identifies a signature of disease severity in the plasma of COVID-19 pneumonia patients associated to neutrophil, platelet and complement activation

Fabiola Ciccosanti, Manuela Antonioli, Alessandra Sacchi, Stefania Notari, Anna Farina, Alessia Beccacece, Marisa Fusto, Alessandra Vergori, Gianpiero D’Offizi, Fabrizio Taglietti, Andrea Antinori, Emanuele Nicastri, Luisa Marchioni, Fabrizio Palmieri, Giuseppe Ippolito, Mauro Piacentini, Chiara Agrati & Gian Maria Fimia
Additional file 4: Table S4: Proteins with statistically different levels in COVID-19 patients.

Additional file 5 of Proteomic analysis identifies a signature of disease severity in the plasma of COVID-19 pneumonia patients associated to neutrophil, platelet and complement activation

Fabiola Ciccosanti, Manuela Antonioli, Alessandra Sacchi, Stefania Notari, Anna Farina, Alessia Beccacece, Marisa Fusto, Alessandra Vergori, Gianpiero D’Offizi, Fabrizio Taglietti, Andrea Antinori, Emanuele Nicastri, Luisa Marchioni, Fabrizio Palmieri, Giuseppe Ippolito, Mauro Piacentini, Chiara Agrati & Gian Maria Fimia
Additional file 5: Table S5: Analysis of biological processes associated to the proteins altered in COVID-19 patients.

Additional file 2 of Proteomic analysis identifies a signature of disease severity in the plasma of COVID-19 pneumonia patients associated to neutrophil, platelet and complement activation

Fabiola Ciccosanti, Manuela Antonioli, Alessandra Sacchi, Stefania Notari, Anna Farina, Alessia Beccacece, Marisa Fusto, Alessandra Vergori, Gianpiero D’Offizi, Fabrizio Taglietti, Andrea Antinori, Emanuele Nicastri, Luisa Marchioni, Fabrizio Palmieri, Giuseppe Ippolito, Mauro Piacentini, Chiara Agrati & Gian Maria Fimia
Additional file 2: Tables S2: MaxQuant software analysis of peptides detected by mass spectrometry from plasma of COVID-19 patients.

Additional file 3 of Proteomic analysis identifies a signature of disease severity in the plasma of COVID-19 pneumonia patients associated to neutrophil, platelet and complement activation

Fabiola Ciccosanti, Manuela Antonioli, Alessandra Sacchi, Stefania Notari, Anna Farina, Alessia Beccacece, Marisa Fusto, Alessandra Vergori, Gianpiero D’Offizi, Fabrizio Taglietti, Andrea Antinori, Emanuele Nicastri, Luisa Marchioni, Fabrizio Palmieri, Giuseppe Ippolito, Mauro Piacentini, Chiara Agrati & Gian Maria Fimia
Additional file 3: Table S3: MaxQuant software identification of proteins from plasma of COVID-19 patients.

Additional file 6 of Proteomic analysis identifies a signature of disease severity in the plasma of COVID-19 pneumonia patients associated to neutrophil, platelet and complement activation

Fabiola Ciccosanti, Manuela Antonioli, Alessandra Sacchi, Stefania Notari, Anna Farina, Alessia Beccacece, Marisa Fusto, Alessandra Vergori, Gianpiero D’Offizi, Fabrizio Taglietti, Andrea Antinori, Emanuele Nicastri, Luisa Marchioni, Fabrizio Palmieri, Giuseppe Ippolito, Mauro Piacentini, Chiara Agrati & Gian Maria Fimia
Additional file 6: Table S6: Cluster analysis of proteins modulated in the plasma of COVID-19 patients.

Registration Year

  • 2022
    12
  • 2021
    2
  • 2019
    3
  • 2018
    1
  • 2017
    1
  • 2016
    3
  • 2015
    1
  • 2012
    1
  • 2011
    1

Resource Types

  • Dataset
    25

Affiliations

  • Istituti di Ricovero e Cura a Carattere Scientifico
    25
  • Sapienza University of Rome
    11
  • University of Rome Tor Vergata
    11
  • Ministero della Salute
    10
  • Istituto Nazionale per le Malattie Infettive Lazzaro Spallanzani
    10
  • Bambino Gesù Children's Hospital
    10
  • University of Milan
    6
  • Istituto Auxologico Italiano
    2
  • University of Pisa
    2
  • Università Campus Bio-Medico
    2