Results 161 to 170 of about 83,048 (260)

ROMA [PDF]

, 2019
openaire   +1 more source

Exercise limitations in amyloid cardiomyopathy assessed by cardiopulmonary exercise testing—A multicentre study

ESC Heart Failure, Volume 12, Issue 2, Page 1326-1335, April 2025.
Abstract Aims Amyloid cardiomyopathy is caused by the deposition of light chain (AL) or transthyretin amyloid (ATTR) fibrils, that leads to a restrictive cardiomyopathy, often resulting in heart failure (HF) with preserved or reduced ejection fraction.
Robin Willixhofer, Mauro Contini, Michele Emdin, Damiano Magrì, Alice Bonomi, Elisabetta Salvioni, Fabrizio Celeste, Alberico Del Torto, Claudio Passino, Christophe D.J. Capelle, Chiara Arzilli, Emiliano Fiori, Nicolò Capra, Christina Kronberger, Nikita Ermolaev, Andreas Kammerlander, Beatrice Musumeci, Giuseppe Vergaro, Vincenzo Castiglione, René Rettl, Giacomo Tini, Andrea Baggiano, Iacopo Fabiani, Susanna Sciomer, Roza Badr Eslam, Piergiuseppe Agostoni   +25 more
wiley   +1 more source

The <i>CTDP1</i> Founder Variant in CCFDN: Insights into Pathogenesis, Phenotypic Spectrum and Therapeutic Approaches. [PDF]

Int J Mol Sci
Sabau IM, Chera A, Ungureanu VG, Cretu Stancu M, Chirita-Emandi A, Wood M, Puiu M, Bucur O.   +7 more
europepmc   +1 more source

Policy Spandrels: How Design Decisions Can Open Up Spaces for Unintended Policy Change

European Policy Analysis, EarlyView.
ABSTRACT This article introduces the concept of policy spandrels to make sense of public policies producing second‐order effects that are unintentional from the perspective of policy design and yet are fraught with consequences. By analogy with architectural spandrels—leftover spaces that can be used for unforeseen purposes—policy change can be enabled
Martino Maggetti
wiley   +1 more source

Interconnection morphology effects on the radio frequency response of carbon nanotube sponges. [PDF]

Beilstein J Nanotechnol
Scarselli M, Rezvani J, Zuccari Z, Scagliotti M, Tocci S.   +4 more
europepmc   +1 more source

Blocked and “Unblocked” Learning: Structural Factors That Impede and Enable Evidence‐Informed Policymaking

European Policy Analysis, EarlyView.
ABSTRACT This article addresses a critical issue in evidence‐informed policymaking: the challenge of translating knowledge into policy outputs amidst the complex interplay between research and politics. It discusses the concept of “blocked learning,” where individual‐level learning fails to scale up to organizational and policy levels, thus impeding ...
Thenia Vagionaki
wiley   +1 more source

A noninvasive strategy for multi-disease diagnosis via multi-sensor platform: integrative analysis of five years of exhaled breath-based diagnostics for seven diseases. [PDF]

Front Bioeng Biotechnol
Zompanti A, Pennazza G, Grasso S, Sabatini A, Di Loreto MV, Cenerini C, La Monica L, Vollero L, Incalzi RA, Pedone C, Finamore P, Scarlata S, De Vincentis A, Picardi A, Crucitti P, Longo F, Rocco G, Segreti A, Grigioni F, Santonico M.   +19 more
europepmc   +1 more source

Predictive value of seizure onset for gross motor dysfunction in individuals with pathogenic GABRB2 and GABRB3 variants

Epilepsia, EarlyView.
Abstract Objective Pathogenic variants in γ‐aminobutyric acid type A (GABAA) receptor genes have been associated with a wide spectrum of neurological disorders. We aimed to delineate the clinical trajectories associated with gain‐of‐function (GoF) and loss‐of‐function (LoF) variants in GABRB2 and GABRB3, and to develop a risk‐prediction model for gross
Sebastian Ortiz, Leonardo Affronte, Chiara Bagliani, Serene El‐Kamand, Anthony Sze Hon Kan, Isabel T. Kristoffersen, Rebekka S. Dahl, Anne F. Højte, Stéphane Auvin, Arjan Bouman, Shimriet Zeidler, Gerhard Kluger, Gaetan Lesca, Nicolas Chatron, Zeynep Goke‐Samar, Maria T. Papadopoulou, Matthildi Athina Papathanasiou Terzi, Elise Schaefer, Anne de Saint Martin, Sarah Baer, Mohammed Al Owain, Saud Takroni, Hesham Al‐Dhalaan, Paolo Bonanni, Alessandra Rossi, Nicoletta Zanotta, Marina Trivisano, Nicola Specchio, Angela de Dominicis, Pasquale Striano, Alessandro Orsini, Maria Margherita Mancardi, Sebastian Neuens, Melanie Jennesson‐Lyver, Ira Benkel‐Herrenbrueck, David Genevieve, Richard Sidlow, Kamer Tezcan, Ilona Krey, Johannes R. Lemke, Konrad Platzer, Damien Lederer, Inga Talvik, Ulvi Vaher, Kees P. J. Braun, Anne‐Marie Guerrot, Rebecca More, Matthias De Wachter, Sarah Weckhuysen, Evelina Carapancea, Maria Roberta Cilio, Julia Jacobs, Katalin Sterbova, Simona Balestrini, Renzo Guerrini, Giulio Peroni, Inger‐Lise Mero, Walaa ElNaggar, Nour Elkhateeb, Ariane Schmetz, Denise L. Chan, Ghayda M. Mirzaa, Boris Chaumette, Adrien Legrand, Amy McTague, Tommy Stödberg, Rebekah V. Harris, Samuel F. Berkovic, Ingrid E. Scheffer, Mary Chebib, Elena Gardella, Philip K. Ahring, Nathan L. Absalom, Rikke S. Møller   +73 more
wiley   +1 more source

Correction to: Continous or fixed carfilzomib, lenalidomide and dexamethasone (KRD) for relapsed-refractory multiple myeloma: long-term follow-up from a multicenter, retrospective real-life survey from European myeloma network (EMN) Italy : Correction to: annals of hematology. [PDF]

Ann Hematol
Conticello C, Del Fabro V, Romano A, Mele A, Mina R, Bringhen S, Orofino A, Antonioli E, Pulini S, De Paoli L, Za T, Cotzia E, Elia F, Casson A, Prete E, Citiso S, Liberatore C, Margiotta-Casaluci G, Fazio F, Morè S, Attucci I, Accardi F, Bongarzoni V, Mangiacavalli S, Rossi E, Mannina D, Garibaldi B, Rizzi R, Di Cecca M, Rossini B, Uccello G, Botta C, Leotta D, Vincelli D, Gentile M, Piciocchi A, Marsili G, Patriarca F, Zambello R, Musto P, Boccadoro M, Offidani M, Petrucci MT, Di Raimondo F.   +43 more
europepmc   +1 more source

Mechanisms of SCN2A loss of function do not predict presence or phenotype of epilepsy

Epilepsia, EarlyView.
Abstract Objective SCN2A loss‐of‐function (LoF) variants are associated with epilepsy (onset age ≥ 3 months), intellectual disability (ID), and autism spectrum disorder (ASD). Despite numerous identified variants and the description of phenotypic subgroups, relationships between Nav1.2 channel dysfunction and clinical phenotypes remain unclear.
Marsha Tan, Beatrice Southby Goad, Meagan Allen, Jill Rodda, Kay L. Richards, Simone L. Ardern‐Holmes, Daniel Bamborschke, Daniel Fritzen, Inna Hughes, Kate Riney, Ana Roche Martinez, Angelo Russo, Adriane Sinclair, Stefano Sartori, Marina Trivisano, Angela De Dominicis, Nicola Specchio, Rikke S. Møller, Ingrid E. Scheffer, Walid Fazeli, Markus Wolff, Steven Petrou, Katherine B. Howell, Géza Berecki   +23 more
wiley   +1 more source