Results 121 to 130 of about 285,898 (302)

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

Annals 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, Giorgia Coratti, Chiara Cutrì, Antonio Varone, Riccardo Masson, Adele D'Amico, Valeria Sansone, Sonia Messina, Federica Ricci, Chiara Ticci, Claudio Bruno, Caterina Agosto, Francesca Benedetti, Antonella Pini, Sabrina Siliquini, Massimiliano Filosto, Alberto Zambon, Ilaria Bitetti, Maria Rosaria Manna, Claudia Dosi, Riccardo Zanin, Stefano Parravicini, Roberto De Sanctis, Giulia Stanca, Michela Catteruccia, Michele Tosi, Irene Mizzoni, Emilio Albamonte, Valentina Franchino, Maria Sframeli, Ilaria Cavallina, Elena Procopio, Michele Sacchini, Simone Morando, Noemi Brolatti, Federica Trucco, Gaia Scarpini, Elena Briganti, Beatrice Berti, Concetta Palermo, Daniela Leone, Stefano C. Previtali, Eugenio Mercuri, the ITASMAC working group   +43 more
wiley   +1 more source

Philosophical Aesthetics and Cognitive Science

, 2017
Philosophical aesthetics is the branch of philosophy which explores issues having to do with art, beauty, and related phenomena. Philosophers have often been skeptical about the place of empirical investigation in aesthetics.
Goffin, KrisUGent00012092393780200127983097259010784182F17D60-0C13-11E2-AA3C-3DCD10BDE39D, Monsere, A, Jon Robson, Meskin, Aaron, Goffin, Kris, Monseré, Annelies, Anna Ichino, Goffin, K, A. Meskin, Monseré, AnneliesUGent00008072632980200084019597963230935619DE7B24-F0EE-11E1-A9DE-61C894A0A6B4, Meskin, AR, Aaron Meskin, J. Robson, K. Goffin, Robson, J, Kris Goffin, A. Monsere, A. Ichino, Ichino, Anna, Annelies Monseré, Ichino, A, Robson, Jon   +21 more
core   +1 more source

Clinical Validation of Plasma p‐217tau in Neurological Diseases

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Plasma p‐217tau is a minimally invasive but specific biomarker for diagnosing Alzheimer's disease (AD). However, its disease specificity remains to be clinically evaluated. We validated the reliability of the p‐217tau biomarker in 12 other neurological diseases.
Takeshi Kawarabayashi, Takumi Nakamura, Ryoma Takahashi, Tetsuya Ueda, Seiji Kinoshita, Chikage Uchida, Takashi Sugawara, Kentaro Hashimoto, Kunihiko Ishizawa, Masakuni Amari, Hiroo Kasahara, Yoshio Ikeda, Masamitsu Takatama, Mikio Shoji   +13 more
wiley   +1 more source

Definition specifics of the term “Biotechnology”

Studia Humanitatis, 2018
The article describes the definition of the term as a way of its studying. The study of the definition within the framework of scientific and professional discourse is one of the most significant and actively developing directions in terminology and ...
Myshak Olena Oleksiyivna
doaj  

A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling, Mark D. Parker, Sven Kerst, Richard A. Pasternack, Jacob Tondreau, Marjolein Breur, Gemma M. van Rooijen‐van Leeuwen, Davide Tonduti, Ettore Salsano, Alejandra Darling, Joanna A. E. van Wijk, Susanna Törnroth‐Horsefield, Marianna Bugiani, Petra J. W. Pouwels, Quinten Waisfisz, Marjo S. van der Knaap, Rogier Min   +16 more
wiley   +1 more source

Problem Detection and Definition - The Case of Farmers' Choice of Organic Milk Production

Little is known about problem detection and definition, despite that it starts the decision making process. Problem detection means becoming aware of a problem, i.e. of a difference between a desired and perceived situation.
Lunneryd, Daniel, Ohlmer, Bo
core  

CSF Monoamine Metabolites and Cognitive Trajectory in Early Parkinson's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Imaging and postmortem studies indicate that abnormalities in monoaminergic neurotransmission contribute to cognitive impairment in Parkinson's disease (PD). However, it remains uncertain if cerebrospinal fluid (CSF) monoamine metabolites can serve as biomarkers of cognitive decline in early PD.
Jing‐Yu Shao, Rong Li, Yu‐Xiang Jiao, Kai Ma, Hong‐Qi Yang, Zheng‐Yu Sun, Jie‐Wen Zhang, Shuai Chen   +7 more
wiley   +1 more source

SPG4 and Dementia: Expanding the Clinical Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza, Arun Meyyazhagan, Eliseo Picchi, Gustavo Ribas, Ingrid Faber, Ryosuke Miyamoto, Preethi Basavaraju, Paolo Eusebi, Haripriya Kuchi Bhotla, Mario Stasi, Fabrizio Gaudiello, Francesco Patti, Filippo Maria Santorelli, Marcondes Cavalcante França Jr, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Hélio Afonso Ghizoni Teive, Peter Henry St George‐Hyslop, Toshitaka Kawarai, Antonio Orlacchio   +19 more
wiley   +1 more source

What is Learning? A Definition for Cognitive Science.

, 2017
Many intuitive notions of “learning” do not support thediverse kinds of learning across different situations andlearners. In this paper I offer a functional definition oflearning from a cognitive science perspective, which attemptsto account for the presence of learning in different physicalsubstrates.
openaire   +1 more source

Individual cognitive-behavioural anger treatment for people with mild-borderline intellectual disabilities and histories of aggression: a controlled trial

, 2005
Objectives - Anger is a significant predictor and activator of violent behaviour in patients living in institutional settings. There is some evidence for the value of cognitive-behavioural treatments for anger problems with people with intellectual ...
Thorne, Ian, John L. Taylor, Raymond W. Novaco, Ian Thorne, Gillmer, Bruce, Bruce T. Gillmer, Taylor, John, Novaco, Raymond, Alison Robertson, Robertson, Alison   +9 more
core   +1 more source