Results 11 to 20 of about 44,929 (215)

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023
Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei   +4 more
wiley   +1 more source

A Firenze mercanti, cavalieri nella signoria dei re d’Aragona. I Tecchini Taquí tra XIV e XV secolo

open access: yesAnuario de Estudios Medievales, 2009
La traiettoria dei Tecchini costituisce un esempio significativo di naturalizzazione di una famiglia fiorentina in ambito catalano-aragonese. I Tecchini- Taquí, al contrario di molti dei loro connazionali, furono caratterizzati da una presenza di lunga ...
Maria Elisa Soldani
doaj   +1 more source

Tra Pisa e Firenze: miniatori pisani nel XIV secolo

open access: yesCodex Studies, 2021
The activity of Pisan illuminators in Florence in the XIV century has been the subject of several studies starting from the suggestions of Maria Grazia Ciardi Dupré Dal Poggetto.
Laura Alidori Battaglia
doaj  

Trascrizioni diplomatiche dei relatori dell'«Istorietta troiana»

open access: yesCarte Romanze, 2017
L’autore offre la trascrizione diplomatica dei due mss. che tramandano l’Istorietta troiana: Firenze, Biblioteca Medicea Laurenziana, Gaddi rel. 71 e Firenze, Biblioteca Nazionale Centrale, Magliabechiano II.IV.49.
Alfonso D'Agostino
doaj   +1 more source

Tubuh Perempuan dan Kekerasan Seksual

open access: yesKamasean, 2023
This research focuses on and aims to recover the view of objectivating the female body, which is reduced to merely satisfying male lust, a source of sin, and other negative attachments. This perspective is suspected to be one of the factors in the sexual
Rex Firenze Tonta
doaj   +1 more source

Onasemnogene Abeparvovec in Type I Spinal Muscular Atrophy: 24‐Month Follow‐Up From the Italian Registry

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Onasemnogene abeparvovec (OA) is an AAV9‐based gene therapy for spinal muscular atrophy type I (SMA I). Real‐world outcomes show increased response variability compared to clinical trials, and follow‐up data beyond 12–18 months are limited.
Marika Pane   +43 more
wiley   +1 more source

El cuerpo en la filosofía de Merleau-Ponty

open access: yesDaimon, 2017
El propósito de esta contribución es exponer los elementos esenciales de la filosofía del cuerpo de Merleau-Ponty. En un primer momento describiré la función trascendental del cuerpo como cogito tácito planteada en Phénoménologie de la perception, para a
Antonino Firenze
doaj   +1 more source

Comprehensive Assessment of Arterial, Tissue, and Venous Collaterals for Evaluating the Infarct Growth Rate: The Multimodal Collateral Score

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Collaterals are crucial factors that influence the infarct growth rate (IGR). We aimed to determine whether a comprehensive multimodal collateral score (MCS), incorporating collateral assessment at the arterial, tissue, and venous levels, is associated with functional independence and provides incremental prognostic value over ...
Giorgio Busto   +12 more
wiley   +1 more source

Interaction of Intraprocedural Antiplatelets and Intravenous Thrombolysis in Acute Intracranial Stenting: RESISTANT Registry Subanalysis

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Introduction/Objective Acute intracranial stenting during endovascular thrombectomy (EVT) for ischemic stroke requires intraprocedural antiplatelet therapy (APT) to maintain patency. However, the hemorrhagic risk of combining APT with intravenous thrombolysis (IVT) remains uncertain.
Aaron Rodriguez‐Calienes   +75 more
wiley   +1 more source

Mycophenolate Mofetil Treatment Reduces the Risk of Treatment Escalation Due to Vascular Complications in Limited Cutaneous Systemic Sclerosis: Emulation of a Target Trial From the Italian Rheumatology Society SPRING Registry

open access: yesArthritis Care &Research, EarlyView.
Objective Mycophenolate mofetil (MMF) use in limited cutaneous systemic sclerosis (lcSSc) is relatively uncommon because of the lower fibrotic burden and the predominance of vascular complications. In vitro observations and clinical data from transplanted patients suggest a protective effect of MMF on endothelial function.
Enrico De Lorenzis   +77 more
wiley   +1 more source

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