Case report: A novel ACTA1 variant in a patient with nemaline rods and increased glycogen deposition
Frontiers in NeurologyBackgroundCongenital myopathies are a group of heterogeneous inherited disorders, mainly characterized by early-onset hypotonia and muscle weakness. The spectrum of clinical phenotype can be highly variable, going from very mild to severe presentations ...
Daniela Piga +17 more
doaj +1 more source
Geometrically Tunable Scaffold‐Free Muscle Bioconstructs for Treating Volumetric Muscle Loss
Advanced Healthcare Materials, EarlyView.Volumetric muscle loss is associated with traumatic muscle resulting in permanent functional impairment. Mold‐based, scaffold‐free, high‐density muscle tissue bioconstructs are developed in customizable geometric shapes and sizes. The transplanted rectangular solid‐shaped muscle bioconstructs improved muscle force recovery and tissue regeneration in ...
Bugra Ayan +8 more
wiley +1 more source
Early exposure to environmental toxin contributes to neuronal vulnerability and axonal pathology in a model of familial ALS [PDF]
, 2011 Adult onset amyotrophic lateral sclerosis (ALS) arises due to progressive and irreversible functional deficits to the central nervous system, specifically the loss of motor neurons.
Christopher A. Shaw, Grace Lee
core +1 more source
Advanced Healthcare Materials, EarlyView.A human cell‐based microphysiological system integrates engineered muscle tissues with an inflamed adipose–macrophage niche to model obese microenvironment‐induced muscle dysfunction. Muscle contraction is quantified by pillar deflection coupled with computational stiffness estimation. Secretome and transcriptomic profiling reveal inflammation‐mediated
Seunggyu Kim +16 more
wiley +1 more source
The Space Within: How Architected Voids Promote Tissue Formation
Advanced Materials, EarlyView.This review explores the role of void spaces in tissue engineering scaffolds and examines four key methods for introducing porosity into hydrogels at different scales. It discusses sacrificial templating, microgels, phase separation, and 3D printing, highlighting principles, advantages, and limitations. It also addresses emerging strategies integrating
Anna Puiggalí‐Jou +3 more
wiley +1 more source
From Doubt to Diagnosis: Canadian Patient Perspectives on a Limb‐Girdle Muscular Dystrophy Diagnosis
Health ExpectationsIntroduction Limb‐girdle muscular dystrophies (LGMDs) encompass a rare and genetically diverse set of disorders, posing challenges in diagnosis due to the absence of distinct pathological features, leading to frequent misdiagnoses and inadequate symptom ...
Homira Osman +6 more
doaj +1 more source
Rapid and reversible responses to
, 2013 Melvin Berger +2 more
openalex +1 more source
Ultrastructural Characterization of the Lower Motor System in a Mouse Model of Krabbe Disease
Scientific Reports, 2016 Krabbe disease (KD) is a neurodegenerative disorder caused by the lack of β- galactosylceramidase enzymatic activity and by widespread accumulation of the cytotoxic galactosyl-sphingosine in neuronal, myelinating and endothelial cells.
V. Cappello +7 more
semanticscholar +1 more source
Materials and System Design for Self‐Decision Bioelectronic Systems
Advanced Materials, EarlyView.This review highlights how self‐decision bioelectronic systems integrate sensing, computation, and therapy into autonomous, closed‐loop platforms that continuously monitor and treat diseases, marking a major step toward intelligent, self‐regulating healthcare technologies.
Qiankun Zeng +9 more
wiley +1 more source