Results 141 to 150 of about 526,563 (312)

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

The lack of design quality focus in construction: a case for examining suitable design processes [PDF]

open access: yes, 2009
A large number of projects in UK construction now involve contractor-led design and are thus very different from the traditional approach which formed the basis of the original Royal Institute of British Architects (RIBA) Outline Plan of Work.
Walker, Alan   +2 more
core  

Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Sarcoglycanopathies are among the most severe limb‐girdle muscular dystrophies (LGMD), though milder presentations have been described. These diseases are primarily caused by missense variants, but the limited predictability of their effect on protein maturation, complex formation, and transport has hindered reliable genotype ...
Leonela Luce   +72 more
wiley   +1 more source

A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema

open access: yesAnnals 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   +16 more
wiley   +1 more source

Lean construction: Prospects for the German construction industry [PDF]

open access: yes, 2007
There is little, if any, information available about the range and dissemination of lean concepts among construction companies in Germany. Building on the methodologies and conceptual frameworks used in earlier work in the UK (Common et al., 2000) and ...
Walter, Lorenz, Johansen, Eric
core  

Comparing the Effect of Semi‐Immersive Virtual Reality, Computerized Cognitive Training, and Traditional Rehabilitation on Cognitive Function in Multiple Sclerosis: A Randomized Clinical Trial

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Cognitive impairment is a common non‐motor symptom in Multiple Sclerosis (MS), negatively affecting autonomy and Quality of Life (QoL). Innovative rehabilitation strategies, such as semi‐immersive virtual reality (VR) and computerized cognitive training (CCT), may offer advantages over traditional cognitive rehabilitation (TCR ...
Maria Grazia Maggio   +8 more
wiley   +1 more source

Hard or soft: Planning on medium size construction projects [PDF]

open access: yes, 1995
Some data suggest that the approach to planning in construction seeks to impose a managed future on construction work by providing plans which are strictly time scheduled and produced by initially identifying those activities which are critical to the ...
Johansen, Eric
core  

Acute Kidney Injury After Mechanical Thrombectomy for Stroke in Patients With Pre‐Existing Renal Impairment

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Acute kidney injury (AKI) is a common but often underrecognized complication in ischemic stroke patients undergoing mechanical thrombectomy, particularly among those with pre‐existing renal impairment. This study evaluated the incidence, risk factors, and clinical impact of AKI in this high‐risk population.
Michał Borończyk   +10 more
wiley   +1 more source

Measuring performance and determining success factors of construction sites [PDF]

open access: yes, 2005
Construction site performance has been measured using various key figures and monitored with the aid of checklists, but no systematic, comprehensive performance measurement systems exist for comparison and development purposes.
Salminen, Juha
core  

Risk of Non‐Arteritic Anterior Ischemic Optic Neuropathy in Idiopathic Intracranial Hypertension Patients Treated with GLP‐1 Receptor Agonists

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Introduction Glucagon‐like peptide‐1 receptor agonists (GLP‐1 RAs) have demonstrated significant weight‐reducing effects and may offer benefits in idiopathic intracranial hypertension (IIH); however, recent concerns about the risk of non‐arteritic anterior ischemic optic neuropathy (NAION) have emerged.
Faisal A. Al‐Harbi   +9 more
wiley   +1 more source

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