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Artigo Acesso aberto Revisado por pares

Massimo Cacciari, Alessandro Carrera, Mássimo Verdicchio, Davide Panagia,

of Italy," Simon Levis Sullam traces a double itinerary, sketching a history of Jewish Italian linguists from Graziadio Isaia Ascoli (mid-Ottocento) to Rabbi Umberto Cassuto (early Novecento) and Benvenuto Terraccini (1920Terraccini ( -1960's)'s), and applying their precepts to the "questione della lingua" as manifested in the work of twentieth-century Italian Jewish authors.In this regard, Svevo displays a zerodegree of Jewish linguistic identification, while Saba devotes lively pages to local Italian ...

Tópico(s): Critical Theory and Philosophy

2009 - Cambridge University Press | Quaderni d italianistica

Artigo Acesso aberto Revisado por pares

Edoardo Gioele Spinelli, Alma Ghirelli, Silvia Basaia, Camilla Cividini, Nilo Riva, Elisa Canu, Veronica Castelnovo, Teuta Domi, Giuseppe Magnani, Francesca Caso, Paola Caroppo, Sara Prioni, Giacomina Rossi, Lucio Tremolizzo, Ildebrando Appollonio, Vincenzo Silani, Paola Carrera, Massimo Filippi, Federica Agosta,

Background and Objectives To assess cortical, subcortical, and cerebellar gray matter (GM) atrophy using MRI in patients with disorders of the frontotemporal lobar degeneration (FTLD) spectrum with known genetic mutations. Methods Sixty-six patients carrying FTLD-related mutations were enrolled, including 44 with pure motor neuron disease (MND) and 22 with frontotemporal dementia (FTD). Sixty-one patients with sporadic FTLD (sFTLD) matched for age, sex, and disease severity with genetic FTLD (gFTLD) were also included, ...

Tópico(s): Parkinson's Disease Mechanisms and Treatments

2021 - Lippincott Williams & Wilkins | Neurology

Artigo Acesso aberto Revisado por pares

Yuri Falzone, Teuta Domi, Federica Agosta, Laura Pozzi, Paride Schito, Raffaella Fazio, Ubaldo Del Carro, Alessandra Barbieri, M. Comola, Letizia Leocani, Giacomo P. Comi, Paola Carrera, Massimo Filippi, Angelo Quattrini, Nilo Riva,

To investigate the prognostic role and the major determinants of serum phosphorylated neurofilament heavy -chain (pNfH) concentration across a large cohort of motor neuron disease (MND) phenotypes. Enzyme-linked immunosorbent assay (ELISA) was used to measure serum pNfH concentration in 219 MND patients consecutively enrolled in our tertiary MND clinic. A multifactorial analysis was carried out to investigate the major clinical determinants of serum pNfH. Kaplan–Meier survival curves and Cox regression ...

Tópico(s): Neurogenetic and Muscular Disorders Research

2020 - Springer Science+Business Media | Journal of Neurology

Artigo Revisado por pares

Silvia Angeli, Paola Carrera, Massimo Del Sette, Andrea Assini, Marina Grandis, Donatella Biancolini, Maurizio Ferrari, Claudia Gandolfo,

Cerebral autosomal dominant angiopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an autosomal dominant hereditary disease whose clinical expression is a stepwise subcortical vascular dementia. Initial presentation of the disease involves transient or stabilized focal neurological deficits, migraine and mood changes. Recently, a high prevalence of right-to-left shunt (RLS) due to patent foramen ovale has been reported in subjects with migraine. The aim of our study was to determine ...

Tópico(s): Intracranial Aneurysms: Treatment and Complications

2001 - Karger Publishers | European Neurology

Artigo

Sergio Carrera, Massimo Merlino,

The relationship between EU policy and the rights of undocumented migrants remains in tension. The status and treatment granted to undocumented migrants continues to be ‘invisible’ in EU policy strategies and responses. This is so despite the wide recognition and evidence of the vulnerability and insecurities these persons face in their access to fundamental rights. The ‘policy gap’ between current European policy-making under the third multiannual programme on the Union’s Area of Freedom, Security ...

Tópico(s): European Criminal Justice and Data Protection

2010 - RELX Group (Netherlands) | SSRN Electronic Journal

Artigo Acesso aberto Revisado por pares

Nilo Riva, Laura Pozzi, Tommaso Russo, Giovanni Battista Pipitone, Paride Schito, Teuta Domi, Federica Agosta, Angelo Quattrini, Paola Carrera, Massimo Filippi,

In the last few years, different studies highlighted a significant enrichment of NEK1 loss of function (LoF) variants in amyotrophic lateral sclerosis (ALS), and an additional role for the p.Arg261His missense variant in the disease susceptibility. Several other missense variants have been described so far, whose pathogenic relevance remains however unclear since many of them have been reported in both patients and controls. This study aimed to investigate the presence of NEK1 variants and their correlation ...

Tópico(s): Neurological diseases and metabolism

2022 - Frontiers Media | Frontiers in Neuroscience

Artigo Revisado por pares

Carlotta Raviola, Cristina Carrera, Massimo Serra, Alessandro Palmieri, Gabriele Lupidi, Giovanni Maestri, Stefano Protti,

Abstract A combined experimental and computational investigation of the photoreactivity of ( E )‐β‐nitroenones pointed out the occurrence of competitive pathways namely stereoisomerisation to ( E )‐β‐nitroenones and deconjugation to β‐nitro‐β,γ‐enones. Both processes are generated from the triplet excited state of the starting substrates.

Tópico(s): Catalytic C–H Functionalization Methods

2021 - Wiley | ChemPhotoChem

Artigo Revisado por pares

Federica Agosta, Edoardo Gioele Spinelli, Nilo Riva, Andrea Fontana, Silvia Basaia, Elisa Canu, Veronica Castelnovo, Yuri Falzone, Paola Carrera, Gıancarlo Comı, Massimo Filippi,

Background and purpose This study aimed to assess the predictive value of multimodal brain magnetic resonance imaging ( MRI ) on survival in a large cohort of patients with motor neuron disease ( MND ), in combination with clinical and cognitive features. Methods Two hundred MND patients were followed up prospectively for a median of 4.13 years. At baseline, subjects underwent neurological examination, cognitive assessment and brain MRI . Grey matter volumes of cortical and subcortical structures and diffusion ...

Tópico(s): Parkinson's Disease Mechanisms and Treatments

2019 - Wiley | European Journal of Neurology

Artigo Acesso aberto Revisado por pares

Paolo Scarpellini, Paola Carrera, Annalisa Cavallero, Massimo Cernuschi, G. Mezzi, Pier Alberto Testoni, Anna Zingale, Adriano Lazzarin,

ABSTRACT One hundred forty gastric biopsies were tested by microbiological methods and by amplifying a sequence of 23S rRNA and identifying mutations associated to clarithromycin resistance. Seventy-six specimens were positive for Helicobacter pylori . Mutational analysis revealed alterations in 18 (39.1%) of 46 and 2 (8.7%) of 23 samples from human immunodeficiency virus-seropositive and -seronegative persons, respectively. The results of the mutational analysis fully correlated with those of the susceptibility ...

Tópico(s): Mycobacterium research and diagnosis

2002 - American Society for Microbiology | Journal of Clinical Microbiology

Artigo Acesso aberto Revisado por pares

Stefania Gori, Massimo Barberis, Maria Angela Bella, Fiamma Buttitta, Ettore Capoluongo, Paola Carrera, Nicoletta Colombo, Laura Cortesi, Maurizio Genuardi, Massimo Gion, Valentina Guarneri, Lorena Incorvaia, Nicla La Verde, Domenica Lorusso, Antonio Marchetti, Paolo Marchetti, Nicola Normanno, Barbara Pasini, Matilde Pensabene, Sandro Pignata, Paolo Radice, Enrico Ricevuto, Anna Sapino, Pierosandro Tagliaferri, Pierfrancesco Tassone, Chiara Trevisiol, Mauro Truini, Liliana Varesco, Antonio Russo,

The current availability of new Poly(ADP-ribose) Polymerase (PARP)-inhibitors for the treatment of ovarian cancer patients independently of the presence of a BRCA pathogenic variant, together with the validation of somatic test for the analysis of BRCA1/2 genes, involves the need to optimise the guidelines for BRCA testing. The AIOM-SIGU-SIBIOC-SIAPEC-IAP Italian Scientific Societies, in this position paper, recommend the implementation of BRCA testing with 2 main objectives: the first is the identification ...

Tópico(s): CRISPR and Genetic Engineering

2019 - Elsevier BV | Critical Reviews in Oncology/Hematology

Artigo

Daniele Checchi, Massimo Florio, Jorge Carrera,

Privatization policy faces increasing popular opposition in Latin America. After a discussion of recent empirical literature on this topic, we ask two simple questions: Who are the people most dissatisfied with privatization? and: Why are they dissatisfied? To answer, we use social attitudes combined with objective controls at country level. The former include the results of three waves of Latinobarometro surveys (51,635 observations, 1998, 2000 and 2002, in 17 countries). The latter include privatization ...

Tópico(s): Local Government Finance and Decentralization

2005 - RELX Group (Netherlands) | SSRN Electronic Journal

Artigo Acesso aberto Revisado por pares

Stefania Scarlino, Teuta Domi, Laura Pozzi, Alessandro Romano, Giovanni Battista Pipitone, Yuri Falzone, Lorena Mosca, Silvana Penco, Christian Lunetta, Valeria Sansone, Lucio Tremolizzo, Raffaella Fazio, Federica Agosta, Massimo Filippi, Paola Carrera, Nilo Riva, Angelo Quattrini,

Although the genetic architecture of amyotrophic lateral sclerosis (ALS) is incompletely understood, recent findings suggest a complex model of inheritance in ALS, which is consistent with a multistep pathogenetic process. Therefore, the aim of our work is to further explore the architecture of ALS using targeted next generation sequencing (NGS) analysis, enriched in motor neuron diseases (MND)-associated genes which are also implicated in axonal hereditary motor neuropathy (HMN), in order to investigate ...

Tópico(s): Neurogenetic and Muscular Disorders Research

2020 - Multidisciplinary Digital Publishing Institute | International Journal of Molecular Sciences

Artigo Revisado por pares

Daniele Checchi, Massimo Florio, Jorge Carrera,

Abstract Privatisation faces strong and increasingly popular opposition in Latin America. This paper uses individual data on social attitudes, socioeconomic status and demographic information from three waves of Latinobarometro surveys (1998, 2000 and 2002) in 17 countries to study the role of privatisation of utilities and its distributional impact. We find that disagreement with privatisation is most likely when the respondent is on a low-to-middle income and when it involves a high proportion ...

Tópico(s): Social and Economic Development in India

2009 - Taylor & Francis | The Journal of Development Studies

Artigo Revisado por pares

Massimo Fineschi, Arcangelo Carrera, Tommaso Gori,

We report intravascular ultrasound evidence of a ruptured plaque within a bare metal stent restenosis. In the traditional view, in-stent restenosis is considered to be a benign condition associated with progressive apposition of inert extracellular matrix. The clinical correlate of this pathology would be stable angina. In contrast, recent data have shown that at least one-third of patients with in-stent restenosis present with acute coronary syndromes. This case provides in-vivo evidence that the ...

Tópico(s): Acute Myocardial Infarction Research

2009 - Lippincott Williams & Wilkins | Journal of Cardiovascular Medicine

Carta Acesso aberto Revisado por pares

Stefano Lunghetti, Valerio Zacà, Silvia Maffei, Arcangelo Carrera, Rosaria Gaddi, Francesco Diciolla, Massimo Maccherini, Mario Chiavarelli, Sergio Mondillo, Roberto Favilli,

Abuse of doping agents may pose a higher risk for heart disease including acute myocardial infarction. We report the case of a 50-year-old body-builder Caucasian man with a long-standing abuse of nandrolone and erythropoietin that developed a ventricular septal defect following acute myocardial infarction. This mechanical complication led to cardiogenic shock ultimately treated with the implantation of a circulatory support by means of extracorporeal membrane oxygenation. The patient subsequently ...

Tópico(s): Forensic Toxicology and Drug Analysis

2009 - Taylor & Francis | Acute Cardiac Care

Artigo Acesso aberto

Daniele Checchi, Massimo Florio, Jorge Carrera,

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Tópico(s): Corporate Finance and Governance

2005 - RELX Group (Netherlands) | SSRN Electronic Journal

Artigo Revisado por pares

Daniela Delli Castelli, Enzo Terreno, Carla Carrera, Giovanni B. Giovenzana, Roberta Mazzon, Simona Rollet, Massimo Visigalli, Silvio Aime,

Osmotically shrunken liposomes loaded with paramagnetic lanthanide(III) complexes orient in a static magnetic field according to the sign of their magnetic susceptibility anisotropy (Δχ). The magnitude and sign of Δχ are modulated by the magnetic properties of the LnIII ion, by the structural characteristics of the metal chelate, and by the stereochemical arrangement of the lipophilic substituents.

Tópico(s): Advanced MRI Techniques and Applications

2008 - American Chemical Society | Inorganic Chemistry

Artigo Acesso aberto Revisado por pares

Edoardo Gioele Spinelli, Alma Ghirelli, Nilo Riva, Elisa Canu, Veronica Castelnovo, Teuta Domi, Laura Pozzi, Paola Carrera, Vincenzo Silani, Adriano Chiò, Massimo Filippi, Federica Agosta,

Objective Mutations in the TARDBP gene are a rare cause of genetic motor neuron disease (MND). Morphologic MRI characteristics of MND patients carrying this mutation have been poorly described. Our objective was to investigate distinctive clinical and MRI features of a relatively large sample of MND patients carrying TARDBP mutations. Methods Eleven MND patients carrying a TARDBP mutation were enrolled. Eleven patients with sporadic MND (sMND) and no genetic mutations were also selected and individually ...

Tópico(s): Parkinson's Disease Mechanisms and Treatments

2022 - Frontiers Media | Frontiers in Neurology

Artigo Acesso aberto Revisado por pares

Yuri Falzone, Teuta Domi, Alessandra Mandelli, Laura Pozzi, Paride Schito, Tommaso Russo, Alessandra Barbieri, Raffaella Fazio, Maria Antonietta Volontè, Giuseppe Magnani, Ubaldo Del Carro, Paola Carrera, Andrea Malaspina, Federica Agosta, Angelo Quattrini, Roberto Furlan, Massimo Filippi, Nilo Riva,

Abstract Background and purpose This study was undertaken to determine the diagnostic and prognostic value of a panel of serum biomarkers and to correlate their concentrations with several clinical parameters in a large cohort of patients with amyotrophic lateral sclerosis (ALS). Methods One hundred forty‐three consecutive patients with ALS and a control cohort consisting of 70 patients with other neurodegenerative disorders (DEG), 70 patients with ALS mimic disorders (ALSmd), and 45 healthy controls ( ...

Tópico(s): Fibromyalgia and Chronic Fatigue Syndrome Research

2022 - Wiley | European Journal of Neurology

Artigo Revisado por pares

Teuta Domi, Paride Schito, Giacomo Sferruzza, Tommaso Russo, Laura Pozzi, Federica Agosta, Paola Carrera, Nilo Riva, Massimo Filippi, Angelo Quattrini, Yuri Falzone,

Tópico(s): Neurogenetic and Muscular Disorders Research

2023 - Springer Science+Business Media | Journal of Neurology

Artigo Revisado por pares

Enzo Terreno, Claudia Cabella, Carla Carrera, Daniela Delli Castelli, Roberta Mazzon, Simona Rollet, Joseph Stancanello, Massimo Visigalli, Silvio Aime,

Honey, I shrunk the …︁ The chemical shift of intraliposomal water protons of LIPOCEST MRI agents may be enhanced by exploiting a contribution arising from bulk magnetic susceptibility. The effect was attained by osmotically shrinking liposomes to attain nonspherical compartments, with the largest shifts observed for systems containing paramagnetic Tm or Dy complexes either entrapped in the inner cavity or incorporated in the liposome membrane (see picture).

Tópico(s): Electron Spin Resonance Studies

2006 - Wiley | Angewandte Chemie International Edition

Artigo Acesso aberto Revisado por pares

Enzo Terreno, Claudia Cabella, Carla Carrera, Daniela Delli Castelli, Roberta Mazzon, Simona Rollet, Joseph Stancanello, Massimo Visigalli, Silvio Aime,

Die chemische Verschiebung der Wasserprotonen in Liposomen von LIPOCEST-Kernspintomographiereagentien könnte um den Beitrag einer magnetischen Suszeptibilität des Materials verstärkt werden. Der Effekt wurde durch das osmotische Schrumpfen von Liposomen zu nichtsphärischen Kompartimenten erzielt. Die größten Verschiebungen fanden sich bei Systemen mit paramagnetischen Tm- oder Dy-Komplexen, die entweder im Innern eingeschlossen oder in der Liposomenmembran eingelagert waren (siehe Bild).

Tópico(s): Advanced NMR Techniques and Applications

2006 - Wiley | Angewandte Chemie

Artigo

Aude Nicolas, Kevin P. Kenna, Alan E. Renton, Nicola Ticozzi, Faraz Faghri, Ruth Chia, Janice A. Dominov, Brendan Kenna, Mike A. Nalls, Pamela Keagle, Alberto Rivera, William Camu, Natalie A. Murphy, Joke J.F.A. van Vugt, Joshua T. Geiger, Rick A. A. van der Spek, Hannah A. Pliner, Shankaracharya, Bradley Smith, David J. Stone, Simon Topp, Yevgeniya Abramzon, Soragia Athina Gkazi, John D. Eicher, Aoife Kenna, Gabriele Mora, Aude Nicolas, Kevin P. Kenna, Nilo Riva, Jessica Mandrioli, Claudia Caponnetto, Stefania Battistini, Paolo Volanti, Vincenzo La Bella, F. L. Conforti, Johnathan Cooper‐Knock, Sonia Messina, Isabella Laura Simone, Francesca Trojsi, Jeffrey D. Rothstein, Lorne Zinman, Rick A. A. van der Spek, Hannah A. Pliner, Margherita Capasso, Luigi Ferrucci, Cristiane Araújo Martins Moreno, Sitharthan Kamalakaran, David B. Goldstein, Aaron D. Gitler, Tim Harris, R Myers, Hemali Phatnani, Rajeeva Musunuri, Uday Shankar Evani, Avinash Abhyankar, Michael C. Zody, Julia Kaye, Steven Finkbeiner, Stacia K. Wyman, Alex Lenail, Leandro de Araújo Lima, Ernest Fraenkel, Clive N. Svendsen, Leslie M. Thompson, Jennifer E. Van Eyk, James Berry, Jonathan Mill, Stephen J. Kolb, Merit Cudkowicz, Emily G. Baxi, Michael Benatar, J. Paul Taylor, Evadnie Rampersaud, Gang Wu, Joanne Wuu, Giuseppe Lauria, Federico Verde, Isabella Fogh, Cinzia Tiloca, Giacomo P. Comi, Gianni Sorarù, Cristina Cereda, Philippe Corcia, Hannu Laaksovirta, Liisa Myllykangas, Lilja Jansson, Miko Valori, John Ealing, Hisham Hamdalla, Sara Rollinson, Stuart Pickering‐Brown, Richard W. Orrell, Katie Sidle, Andrea Malaspina, John Hardy, Andrew B. Singleton, Janel O. Johnson, Sampath Arepalli, Peter C. Sapp, Merit Cudkowicz, Meraida Polak, Pamela J. Shaw, Safa Al‐Sarraj, Andrew King, Claire Troakes, Caroline Vance, Jacqueline de Belleroche, Joanne Wuu, Anneloor L.M.A. ten Asbroek, José Luis Muñoz‐Blanco, Dena G. Hernandez, Jinhui Ding, J. Raphael Gibbs, Sonja W. Scholz, Mary Kay Floeter, Roy H. Campbell, Francesco Landi, Robert Bowser, Hannu Laaksovirta, Liisa Myllykangas, Daniel J. MacGowan, Janine Kirby, Erik P. Pioro, Roger Pamphlett, James R. Broach, Glenn S. Gerhard, Travis Dunckley, Christopher B. Brady, Neil W. Kowall, Juan C. Troncoso, Isabelle Le Ber, Kevin Mouzat, Sampath Arepalli, Terry Heiman‐Patterson, Freya Kamel, Ludo Van Den Bosch, Pamela J. Shaw, Tim M. Strom, Thomas Meitinger, Claire Troakes, Kristel R. van Eijk, Jacqueline de Belleroche, Frank Baas, Anneloor L.M.A. ten Asbroek, Matthieu Moisse, Russell L. McLaughlin, Michael A. van Es, J. Raphael Gibbs, Khrista Boylan, Marka van Blitterswijk, Roy H. Campbell, Karen Morrison, Robert Bowser, Jesús S. Mora, Vivian E. Drory, Pamela J. Shaw, Martin R. Turner, Kevin Talbot, Roger Pamphlett, James R. Broach, Jennifer A. Fifita, Garth A. Nicholson, Christopher B. Brady, Neil W. Kowall, Jesús Esteban‐Pérez, Alberto García‐Redondo, Kevin Mouzat, Ekaterina Rogaeva, Lorne Zinman, Freya Kamel, Nicholas J. Maragakis, Robert H. Baloh, Tim M. Strom, Johnathan Cooper‐Knock, Alexis Brice, Stephen A. Goutman, Eva L. Feldman, Summer Gibson, Bas Middelkoop, Matthieu Moisse, Russell L. McLaughlin, Michael A. van Es, Markus Weber, Khrista Boylan, Marka van Blitterswijk, Rosa Rademakers, Albert C. Ludolph, Peter M. Andersen, Jochen H. Weishaupt, Vivian E. Drory, John Q. Trojanowski, Martin R. Turner, Robert H. Brown, Leonard H. van den Berg, Jan H. Veldink, Jennifer A. Fifita, Garth A. Nicholson, David J. Stone, Pentti J. Tienari, Jesús Esteban‐Pérez, Adriano Chiò, Christopher E. Shaw, Bryan J. Traynor, John E. Landers, Lorne Zinman, Isabella Laura Simone, Giancarlo Logroscino, Jeffrey D. Rothstein, Ilaria Bartolomei, Johnathan Cooper‐Knock, Maria Rita Murru, E Costantino, Carla Pani, Roberta Puddu, Carla Caredda, Valeria Piras, Stefania Tranquilli, Stefania Cuccu, Daniela Corongiu, Maurizio Melis, Antonio Milia, Francesco Marrosu, Maria Giovanna Marrosu, Gianluca Floris, Antonino Cannas, Stefania Tranquilli, Margherita Capasso, Claudia Caponnetto, Gianluigi Mancardi, Paola Origone, Paola Mandich, F. L. Conforti, Sebastiano Cavallaro, Gabriele Mora, Kalliopi Marinou, Riccardo Sideri, Silvana Penco, Lorena Mosca, Rosa Rademakers, Giuseppe Lauria, Massimo Corbo, Nilo Riva, Paola Carrera, Paolo Volanti, Jessica Mandrioli, Nicola Fini, Antonio Fasano, Lucio Tremolizzo, A Arosio, Carlo Ferrarese, Francesca Trojsi, Gioacchino Tedeschi, Maria Rosaria Monsurrò, Giovanni Piccirillo, Cinzia Femiano, Anna Ticca, Enzo Ortu, Vincenzo La Bella, Rossella Spataro, Tiziana Colletti, Marka van Blitterswijk, Marcella Zollino, Amelia Conte, Marco Luigetti, Serena Lattante, David J. Stone, Marialuisa Santarelli, Antonio Petrucci, Maura Pugliatti, Angelo Pirisi, Leslie D. Parish, Patrizia Occhineri, Fabio Giannini, Stefania Battistini, Claudia Ricci, Michele Benigni, Tea B. Cau, Daniela Loi, Aude Nicolas, Cristina Moglia, Maura Brunetti, Marco Barberis, Gabriella Restagno, Federico Casale, Giuseppe Marrali, Giuseppe Fuda, Irene Ossola, Stefania Cammarosano, Antonio Canosa, Antonio Ilardi, Umberto Manera, Maurizio Grassano, Raffaella Tanel, Fabrizio Pisano, Jennifer A. Fifita, David B. Goldstein,

To identify novel genes associated with ALS, we undertook two lines of investigation. We carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls. Independently, we performed a rare variant burden analysis comparing 1,138 index familial ALS cases and 19,494 controls. Through both approaches, we identified kinesin family member 5A (KIF5A) as a novel gene associated with ALS. Interestingly, mutations predominantly in the N-terminal motor domain of KIF5A are causative ...

Cell Press

Artigo Acesso aberto Revisado por pares

Giuseppe Borghero, Maura Pugliatti, Francesco Marrosu, Maria Giovanna Marrosu, Maria Rita Murru, Gianluca Floris, Antonino Cannas, Patrizia Occhineri, Tea B. Cau, Daniela Loi, Anna Ticca, S. Traccis, Umberto Manera, Antonio Canosa, Cristina Moglia, Andrea Calvo, Marco Barberis, Maura Brunetti, J. Raphael Gibbs, Alan E. Renton, Edoardo Errichiello, Magdalena Żołędziewska, Antonella Mulas, Yong Qian, Jun Din, Hannah A. Pliner, Bryan J. Traynor, Adriano Chiò, Francesco Logullo, Isabella Laura Simone, Giancarlo Logroscino, Fabrizio Salvi, Ilaria Bartolomei, Margherita Capasso, Claudia Caponnetto, Paola Mandich, Gianluigi Mancardi, Paola Origone, F. L. Conforti, Giuseppe Vita, Sonia Messina, Massimo Russo, Gabriele Mora, Kalliopi Marinou, Riccardo Sideri, Christian Lunetta, Silvana Penco, Lorena Mosca, Giuseppe Lauria, Massimo Corbo, Nilo Riva, Paola Carrera, Paolo Volanti, Lucio Tremolizzo, Carlo Ferrarese, Nicola Fini, Antonio Fasano, Maria Rosaria Monsurrò, Gioacchino Tedeschi, Francesca Trojsi, Giovanni Piccirillo, Viviana Cristillo, Letizia Mazzini, Sandra D’Alfonso, Anna Bersano, Lucia Corrado, Alessandra Bagarotti, Vincenzo La Bella, Rossella Spataro, Tiziana Colletti, Mario Sabatelli, Marcella Zollino, Amelia Conte, Marco Luigetti, Serena Lattante, Giuseppe Marangi, Marialuisa Santarelli, Antonio Petrucci, Fabio Giannini, Stefania Battistini, Claudia Ricci, Michele Benigni, Gabriella Restagno, Federico Casale, Giuseppe Marrali, Giuseppe Fuda, Irene Ossola, Stefania Cammarosano, Antonio Ilardi, Davide Bertuzzo, Raffaella Tanel, Fabrizio Pisano, E Costantino, Carla Pani, Roberta Puddu, Carla Caredda, Valeria Piras, Stefania Tranquilli, Stefania Cuccu, Daniela Corongiu, Maurizio Melis, Antonio Milia, Angelo Pirisi, Leslie D. Parish, Enzo Ortu,

Recently, mutations in the TANK-binding kinase 1 (TBK1) gene were identified as a cause for amyotrophic lateral sclerosis (ALS) with or without comorbid frontotemporal dementia. We have assessed the frequency and clinical characteristics of TBK1 mutations in a cohort of ALS patients of Sardinian ancestry. Whole-exome sequencing was performed on Hiseq2000 platform (Illumina). Genome analysis Toolkit was used to align and to code variants according to Human Genome (UCSC hg19). Mutation was confirmed with ...

Tópico(s): Neurogenetic and Muscular Disorders Research

2016 - Elsevier BV | Neurobiology of Aging

Artigo Acesso aberto Revisado por pares

Massimo Cacciari, Mássimo Verdicchio, Alessandro Carrera, Alexander U. Bertland,

Tópico(s): Globalization and Cultural Identity

2017 - Cambridge University Press | Quaderni d italianistica

Artigo Acesso aberto Revisado por pares

Andreana De Mauri, Deborah Carrera, Matteo Vidali, Marco Bagnati, Roberta Rolla, Sergio Riso, Massimo Torreggiani, Doriana Chiarinotti,

In medicine, "compliance" indicates that the patient complies with the prescriber's recommendations, "adherence" means that "the patient matches the recommendations" and "concordance" means "therapeutic alliance" between patient and clinician. While a low protein diet (LPD) is a cornerstone treatment of chronic kidney disease (CKD), monitoring the actual performance of LPD is a challenge.Fifty-seven advanced CKD adult patients were enrolled and LPD prescribed. Compliance was evaluated through the normalized ...

Tópico(s): Health Systems, Economic Evaluations, Quality of Life

2022 - Multidisciplinary Digital Publishing Institute | Nutrients

Artigo Revisado por pares

Enzo Terreno, Alberto Sanino, Carla Carrera, Daniela Delli Castelli, Giovanni B. Giovenzana, Alberto Lombardi, Roberta Mazzon, Luciano Milone, Massimo Visigalli, Silvio Aime,

The water permeability of various liposome membranes has been determined at 298 K by measuring the NMR longitudinal water proton relaxation rate of vesicles encapsulating the clinically approved Gd-HPDO3A complex (HPDO3A = 10-(2-hydroxypropyl)-1,4,7,10-tetraazacyclododecane-1,4,7-triacetic acid). Two basic formulations based on DPPC (dipalmitoylphosphatidylcholine) and POPC (palmitoyl-oleylphosphatidylcholine) phospholipids were selected and investigated. Furthermore, the permeability changes caused ...

Tópico(s): Advanced MRI Techniques and Applications

2008 - Elsevier BV | Journal of Inorganic Biochemistry

Carta Acesso aberto Revisado por pares

Paride Schito, Giulia Ceccardi, Andrea Calvo, Yuri Falzone, Cristina Moglia, Christian Lunetta, Kalliopi Marinou, Nicola Ticozzi, Carlo Scialò, Gianni Sorarù, Francesca Trojsi, Amelia Conte, Rosanna Tortelli, Massimo Russo, Elisabetta Zucchi, Laura Pozzi, Teuta Domi, Paola Carrera, Federica Agosta, Angelo Quattrini, Raffaella Fazio, Adriano Chiò, Valeria Sansone, Gabriele Mora, Vincenzo Silani, Paolo Volanti, Claudia Caponnetto, Giorgia Querin, Gioacchino Tedeschi, Mario Sabatelli, Giancarlo Logroscino, Sonia Messina, Jessica Mandrioli, Nilo Riva, Massimo Filippi,

Motor neuron disease (MND) is a heterogeneous group of neurodegenerative disorders defined by a progressive upper motor neuron (UMN) and lower motor neuron (LMN) loss in a varying combination, encompassing a heterogeneous clinical spectrum depending on a different body region involvement at onset, extent and rate of motor neuron (MN) loss and disease spread. Amyotrophic lateral sclerosis (ALS) is the most common and severe form of MND, leading to death in approximately 4 years from symptoms onset. To ...

Tópico(s): Neurogenetic and Muscular Disorders Research

2020 - BMJ | Journal of Neurology Neurosurgery & Psychiatry

Artigo

Janel O. Johnson, Ruth Chia, Danny E. Miller, Rachel Li, Ravindran Kumaran, Yevgeniya Abramzon, Nada Alahmady, Alan E. Renton, Simon Topp, J. Raphael Gibbs, Mark Cookson, Marya S. Sabir, Clifton L. Dalgard, Claire Troakes, Ashley Jones, Aleksey Shatunov, Alfredo Iacoangeli, Ahmad Al Khleifat, Nicola Ticozzi, Vincenzo Silani, Cinzia Gellera, Ian P. Blair, Carol Dobson‐Stone, John B. Kwok, Emily Bonkowski, Robin Palvadeau, Pentti J. Tienari, Karen Morrison, Pamela J. Shaw, Ammar Al‐Chalabi, Robert H. Brown, Andrea Calvo, Gabriele Mora, Hind Al-Saif, Marc Gotkine, Fawn Leigh, Irene J. Chang, Seth J. Perlman, Ian Glass, Anna I. Scott, Christopher E. Shaw, A. Nazlı Başak, John E. Landers, Adriano Chiò, Thomas O. Crawford, Bradley Smith, Bryan J. Traynor, Bradley Smith, Nicola Ticozzi, Claudia Fallini, Athina Soragia Gkazi, Simon Topp, Emma L. Scotter, Kevin P. Kenna, Pamela Keagle, Cinzia Tiloca, Caroline Vance, Claire Troakes, Claudia Colombrita, Andrew King, Viviana Pensato, Barbara Castellotti, Frank Baas, Anneloor L.M.A. ten Asbroek, Diane McKenna‐Yasek, Russell L. McLaughlin, Meraida Polak, Pamela J. Shaw, Jesús Esteban‐Pérez, Zorica Stević, Sandra D’Alfonso, Letizia Mazzini, Giacomo P. Comi, Roberto Del Bo, Mauro Ceroni, Stella Gagliardi, Giorgia Querin, Cinzia Bertolin, Wouter van Rheenen, Rosa Rademakers, Marka van Blitterswijk, Giuseppe Lauria, Stefano Duga, Stefania Corti, Cristina Cereda, Lucia Corrado, Gianni Sorarù, Kelly L. Williams, Garth A. Nicholson, Ian P. Blair, Claire Leblond-Manry, Guy A. Rouleau, Orla Hardiman, Karen Morrison, Jan H. Veldink, Leonard H. van den Berg, Ammar Al‐Chalabi, Hardev Pall, Pamela J. Shaw, Martin R. Turner, Kevin Talbot, Franco Taroni, Alberto García‐Redondo, Zheyang Wu, Jonathan D. Glass, Cinzia Gellera, Antonia Ratti, Robert H. Brown, Vincenzo Silani, Christopher E. Shaw, John E. Landers, Clifton L. Dalgard, Adelani Adeleye, Anthony R. Soltis, Camille Alba, Coralie Viollet, Dagmar Bačíková, Daniel N. Hupalo, Gauthaman Sukumar, Harvey B. Pollard, Matthew D. Wilkerson, Elisa McGrath Martinez, Yevgeniya Abramzon, Sarah Ahmed, Sampath Arepalli, Robert H. Baloh, Robert Bowser, Christopher B. Brady, Alexis Brice, James R. Broach, Roy H. Campbell, William Camu, Ruth Chia, Johnathan Cooper‐Knock, Jinhui Ding, Carsten Drepper, Vivian E. Drory, Travis Dunckley, John D. Eicher, Bryce England, Faraz Faghri, Eva Feldman, Mary Kay Floeter, Pietro Fratta, Joshua T. Geiger, Glenn S. Gerhard, J. Raphael Gibbs, Summer Gibson, Jonathan D. Glass, John Hardy, Matthew Harms, Terry Heiman‐Patterson, Dena G. Hernandez, Lilja Jansson, Janine Kirby, Neil W. Kowall, Hannu Laaksovirta, Natalie Landeck, Francesco Landi, Isabelle Le Ber, Serge Lumbroso, Daniel J. MacGowan, Nicholas J. Maragakis, Gabriele Mora, Kevin Mouzat, Natalie A. Murphy, Liisa Myllykangas, Mike A. Nalls, Richard W. Orrell, Lyle W. Ostrow, Roger Pamphlett, Stuart Pickering‐Brown, Erik P. Pioro, Olga Pletniková, Hannah A. Pliner, Stefan M. Pulst, John Ravits, Alan E. Renton, Alberto Rivera, Wim Robberecht, Ekaterina Rogaeva, Sara Rollinson, Jeffrey D. Rothstein, Sonja W. Scholz, Michael Sendtner, Pamela J. Shaw, Katie Sidle, Zachary Simmons, Andrew B. Singleton, Bradley Smith, David J. Stone, Pentti J. Tienari, Juan C. Troncoso, Miko Valori, Philip Van Damme, Vivianna M Van Deerlin, Ludo Van Den Bosch, Lorne Zinman, John E. Landers, Adriano Chiò, Bryan J. Traynor, Stefania Angelocola, Francesco P. Ausiello, Marco Barberis, Ilaria Bartolomei, Stefania Battistini, Enrica Bersano, Giulia Bisogni, Giuseppe Borghero, Maura Brunetti, Corrado Cabona, Andrea Calvo, Fabrizio Canale, Antonio Canosa, Teresa A. Cantisani, Margherita Capasso, Claudia Caponnetto, Patrizio Cardinali, Paola Carrera, Federico Casale, Adriano Chiò, Tiziana Colletti, F. L. Conforti, Amelia Conte, Elisa Conti, Massimo Corbo, Stefania Cuccu, Eleonora Dalla Bella, Eustachio D’Errico, Giovanni De Marco, Raffaele Dubbioso, Carlo Ferrarese, Pilar M. Ferraro, Massimo Filippi, Nicola Fini, Gianluca Floris, Giuseppe Fuda, Salvatore Gallone, Giulia Gianferrari, Fabio Giannini, Maurizio Grassano, Lucia Catherine Greco, Claudia Ricci, Alessandro Introna, Vincenzo La Bella, Serena Lattante, Giuseppe Lauria, Rocco Liguori, Giancarlo Logroscino, Francesco Logullo, Christian Lunetta, Paola Mandich, Jessica Mandrioli, Umberto Manera, Fiore Manganelli, Giuseppe Marangi, Kalliopi Marinou, Maria Giovanna Marrosu, Ilaria Martinelli, Sonia Messina, Cristina Moglia, Gabriele Mora, Luigi Mosca, Maria Rita Murru, Paola Origone, Carla Passaniti, Cristina Petrelli, Antonio Petrucci, Susanna Pozzi, Maura Pugliatti, Angelo Quattrini, Claudia Ricci, Giulia Riolo, Nilo Riva, Massimo Russo, Mario Sabatelli, Paolina Salamone, Marco Salivetto, Fabrizio Salvi, Marialuisa Santarelli, Luca Sbaiz, Riccardo Sideri, Isabella Laura Simone, Cecilia Simonini, Rossella Spataro, Raffaella Tanel, Gioacchino Tedeschi, Anna Ticca, Antonella Torriello, Stefania Tranquilli, Lucio Tremolizzo, Francesca Trojsi, Rosario Vasta, Ruth Chia, Giuseppe Vita, Paolo Volanti,

Juvenile amyotrophic lateral sclerosis (ALS) is a rare form of ALS characterized by age of symptom onset less than 25 years and a variable presentation.

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