Results 181 to 190 of about 84,074 (260)

Preparation of α‐Mono‐Fluoromethyl Silanes via Nucleophilic Displacement on Chlorosilanes With LiCH2F

European Journal of Organic Chemistry, EarlyView.
The SiCl bond acts as a versatile platform for undergoing a formal nucleophilic substitution promoted by LiCH2F en route to extremely rare α‐monofluoromethyl‐silanes. Though surprising – when compared with well‐established poly‐fluoromethyl silanes (e.g., Ruppert‐Prakash reagent, TMSCF3) – α‐mono‐fluoromethyl silanes are underrepresented motifs in ...
Alberto Nardi, Davide Castiglione, Margherita Miele, Laura Castoldi, Vittorio Pace   +4 more
wiley   +1 more source

An Artificial Intelligence Dose Engine for Fast Carbon Ion Treatment Planning. [PDF]

Int J Part Ther
Quarz A, De Gregorio A, Franciosini G, Schiavi A, Perkó Z, Volz L, Hoog Antink C, Patera V, Durante M, Graeff C.   +9 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

MOCRA: A multi-algorithm clinical decision support system for the early detection of ovarian cancer. [PDF]

J Ovarian Res
Safaie A, Ghaffari P, Ghaderzadeh M, Salehnasab C.   +3 more
europepmc   +1 more source

Depressive symptoms as independent correlates of epilepsy‐related cognitive burden

Epilepsia, EarlyView.
Abstract Objective This study was undertaken to assess the relationship between the severity of depression and anxiety symptoms and epilepsy‐related variables and cognitive burden in people with epilepsy (PwE), as assessed using EpiTrack. Methods We prospectively enrolled a cohort of PwE who underwent EpiTrack and evaluation by Generalized Anxiety ...
Biagio Maria Sancetta, Giuli Lippa, Marianna Nesta, Lorenzo Ricci, Simona Paola Carbone, Lorenzo Veronese, Giulia Conti, Marco Sferruzzi, Vincenzo Di Lazzaro, Mario Tombini, Giovanni Assenza   +10 more
wiley   +1 more source

Roma

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Mutation type‐specific transcriptomic signatures and readthrough therapy rescue in SMC1A‐related developmental and epileptic encephalopathy

Epilepsia, EarlyView.
Abstract Objective This study was undertaken to investigate the molecular consequences of pathogenic variants in the SMC1A gene—particularly those associated with developmental and epileptic encephalopathy (DEE85)—and to evaluate the therapeutic potential of ataluren in restoring SMC1A function and mitigating disease‐related transcriptomic and genomic ...
Maddalena Di Nardo, Francesca Sardina, Maria M. Pallotta, Iñigo Marcos‐Alcalde, Paulino Gómez‐Puertas, Cinzia Rinaldo, Ian D. Krantz, Antonio Musio   +7 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

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

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