Real-world multidisciplinary outcomes of onasemnogene abeparvovec monotherapy in patients with spinal muscular atrophy type 1: experience of the French cohort in the first three years of treatment [PDF]
Isabelle Desguerre +28 more
openalex +1 more source
379. CNS Delivery of Human SMN1 by Adeno-Associated Virus Is Highly Efficacious in a Mouse Model of Spinal Muscular Atrophy Type I [PDF]
openalex +1 more source
Objective Ultrasound (US) has been proposed as a potential tool for assessing skin fibrosis in systemic sclerosis (SSc). However, a large‐scale comparison of US‐based assessment with histologic markers of skin fibrosis has not been reported. We evaluated US‐based skin assessments for their face validity (differentiation between involved SSc and healthy
Ruhani Desai +12 more
wiley +1 more source
Comprehensive Review of Sepsis-Related Skeletal Muscle Atrophy: Mechanisms, Diagnosis and Therapeutic Strategies. [PDF]
Wu Q, Huang Q, Xu Z, Hou C, Wang C.
europepmc +1 more source
Objectives Sjögren's disease is an autoimmune disorder that can impact multiple organ systems, including the peripheral nervous system (PNS). PNS manifestations, which can exist concurrently, include mononeuropathies, polyneuropathies, and autonomic nervous system neuropathies. To help patients and providers in the decision‐making process, we developed
Anahita Deboo +19 more
wiley +1 more source
Mitigating Dexamethasone-Induced Muscle Wasting and Mitochondrial Impairment in Mice on a High-Fat and High-Sucrose Diet With Peanut Sprout Extract. [PDF]
Jo SM +4 more
europepmc +1 more source
β‐Catenin/c‐Myc Axis Modulates Autophagy Response to Different Ammonia Concentrations
Ammonia, detoxified by the liver into urea and glutamine, impacts autophagy differently at varying levels. Low ammonia activates autophagy via c‐Myc and β‐catenin, while high levels suppress it. Using Huh7 cells and Spf‐ash mice, c‐Myc's role in cytoprotective autophagy is revealed, offering insights into hyperammonemia and potential therapeutic ...
S. Sergio +11 more
wiley +1 more source
SynSpine: an automated workflow for the generation of longitudinal spinal cord synthetic MRI data. [PDF]
Ganzetti M +6 more
europepmc +1 more source

