Search Results - "Mancuso, M"
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Emicizumab Prophylaxis in Patients Who Have Hemophilia A without Inhibitors
Published in The New England journal of medicine (30-08-2018)“…Emicizumab binds to activated factor IX and factor X, reproducing the bridging function of the missing factor VIII. In a trial of emicizumab prophylaxis,…”
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Monogenic cerebral small‐vessel diseases: diagnosis and therapy. Consensus recommendations of the European Academy of Neurology
Published in European journal of neurology (01-06-2020)“…Background and purpose Guidelines on monogenic cerebral small‐vessel disease (cSVD) diagnosis and management are lacking. Endorsed by the Stroke and…”
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3
The ν-cleus experiment: a gram-scale fiducial-volume cryogenic detector for the first detection of coherent neutrino–nucleus scattering
Published in The European physical journal. C, Particles and fields (01-08-2017)“…We discuss a small-scale experiment, called ν -cleus, for the first detection of coherent neutrino–nucleus scattering by probing nuclear-recoil energies down…”
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4
Microplastics occurrence in the Tyrrhenian waters and in the gastrointestinal tract of two congener species of seabreams
Published in Environmental toxicology and pharmacology (01-04-2019)“…•Microplastics were found in coastal waters and in fish gastrointestinal tract from the Tyrrhenian Sea.•Microplastics appeared in fragments or in filamentous…”
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5
Clinical features of mtDNA-related syndromes in adulthood
Published in Archives of biochemistry and biophysics (15-01-2021)“…Mitochondrial diseases are the most common inheritable metabolic diseases, due to defects in oxidative phosphorylation. They are caused by mutations of nuclear…”
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6
Microbial-induced MnO2 precipitation in a carbonate coastal aquifer
Published in The Science of the total environment (10-03-2024)“…A study was carried out to identify biogeochemical reactions along a transect of a coastal dolomitic aquifer. In this transect, the physicochemical parameters…”
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7
Substantial histone reduction modulates genomewide nucleosomal occupancy and global transcriptional output
Published in PLoS biology (01-06-2011)“…The basic unit of genome packaging is the nucleosome, and nucleosomes have long been proposed to restrict DNA accessibility both to damage and to…”
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8
Solar neutrinos in cryogenic detectors
Published in The European physical journal. C, Particles and fields (28-10-2024)“…Coherent elastic neutrino-nucleus scattering (CE ν NS) poses an irreducible background in the search for dark matter-nucleus elastic scatterings, which is…”
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Targeting mitochondrial dysfunction and neurodegeneration by means of coenzyme Q10 and its analogues
Published in Current medicinal chemistry (01-09-2011)“…Coenzyme Q10 is a small electron carrier of the respiratory chain with antioxidant properties, widely used for the treatment of mitochondrial disorders…”
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10
Intensity of factor VIII treatment and inhibitor development in children with severe hemophilia A: the RODIN study
Published in Blood (16-05-2013)“…The objective of this study was to examine the association of the intensity of treatment, ranging from high-dose intensive factor VIII (FVIII) treatment to…”
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Somatosensory input in the context of transcranial magnetic stimulation coupled with electroencephalography: An evidence-based overview
Published in Neuroscience and biobehavioral reviews (01-12-2023)“…The transcranial evoked potential (TEP) is a powerful technique to investigate brain dynamics, but some methodological issues limit its interpretation. A…”
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A low-threshold diamond cryogenic detector for sub-GeV dark matter searches
Published in The European physical journal. C, Particles and fields (01-09-2022)“…In this work we report the realization of the first low-threshold cryogenic detector that uses diamond as absorber for astroparticle physics applications. We…”
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13
Coenzyme Q10 in neuromuscular and neurodegenerative disorders
Published in Current drug targets (01-01-2010)“…Coenzyme Q10 (CoQ10, or ubiquinone) is an electron carrier of the mitochondrial respiratory chain (electron transport chain) with antioxidant properties. In…”
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14
Results on MeV-scale dark matter from a gram-scale cryogenic calorimeter operated above ground
Published in The European physical journal. C, Particles and fields (22-09-2017)“…Models for light dark matter particles with masses below 1 GeV/c [Formula omitted] are a natural and well-motivated alternative to so-far unobserved weakly…”
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15
Neurological research in Italy from 2020 to 2023
Published in Neurological sciences (01-02-2024)“…Background To assess the state of neurological scientific research in Italy in the time interval 2020–2023. Methods Elsevier’s modular integrated platform…”
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The genetics of ataxia: through the labyrinth of the Minotaur, looking for Ariadne’s thread
Published in Journal of neurology (01-09-2014)“…Among the hereditary cerebellar ataxias (CAs), there are at least 36 different forms of autosomal dominant cerebellar ataxia (ADCAs), 20 autosomal recessive…”
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Water Cherenkov muon veto for the COSINUS experiment: design and simulation optimization
Published in The European physical journal. C, Particles and fields (31-05-2024)“…COSINUS is a dark matter (DM) direct search experiment that uses sodium iodide (NaI) crystals as cryogenic calorimeters. Thanks to the low nuclear recoil…”
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18
G-quadruplex ligand RHPS4 radiosensitizes glioblastoma xenograft in vivo through a differential targeting of bulky differentiated- and stem-cancer cells
Published in Journal of experimental & clinical cancer research (16-07-2019)“…Glioblastoma is the most aggressive and most lethal primary brain tumor in the adulthood. Current standard therapies are not curative and novel therapeutic…”
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Severe hemophilia with mild bleeding phenotype: molecular characterization and global coagulation profile
Published in Journal of thrombosis and haemostasis (01-04-2010)“…Background: Patients with severe hemophilia may show very varied bleeding tendencies, and the reasons for this heterogeneous clinical expression are unclear…”
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Evaluation of the utility of the ISTH-BAT in haemophilia carriers: a multinational study
Published in Haemophilia : the official journal of the World Federation of Hemophilia (01-11-2016)“…Introduction There has been increasing recognition in recent years that female carriers of haemophilia manifest abnormal bleeding; however, data on the use of…”
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