Results 131 to 140 of about 1,774,533 (302)
Movement Disorders Clinical Practice, EarlyView.Abstract Background Variants in AFG3‐Like Matrix AAA Peptidase, Subunit 2 (AFG3L2) gene are associated with diverse clinical phenotypes. Here, we describe phenotypic findings of two unrelated children with de novo heterozygous variant and one family with inherited heterozygous variant in AFG3L2 gene.
Sangeetha Yoganathan +14 more
wiley +1 more source
Orthostatic Myoclonus—Clinical and Electrophysiological Features in a Large Retrospective Cohort
Movement Disorders Clinical Practice, EarlyView.Abstract Background Orthostatic myoclonus is characterized by irregular, lower limb myoclonic bursts during stance and is a major cause of postural instability and falls. However, studies are limited, and little is known about its pathophysiology. Objectives We sought to define the clinical and electrophysiological features of orthostatic myoclonus in ...
Sai A. Nagaratnam +8 more
wiley +1 more source
Muscle &Nerve, EarlyView.ABSTRACT Peripheral nerve injuries (PNIs) are a common cause of long‐term motor and sensory disability despite advances in microsurgical repair. Functional recovery following PNI depends not only on axonal regeneration, but also on preservation of distal nerve pathways, maintenance of neuromuscular junction integrity, prevention of irreversible muscle ...
Sarah M. Smith +5 more
wiley +1 more source
With Regard to the Expression Status of Sarcolemmal Aquaporin 4 in Human Muscular Dystrophies
Neurology and Clinical Neuroscience, EarlyView.ABSTRACT Human muscular dystrophies are inherited muscle‐wasting diseases caused by the various kinds of gene mutations. Among them, Duchenne muscular dystrophy (DMD) is a representative type. Before the discovery of the causative dystrophin gene of DMD, the fragile myofiber plasma membrane was thought to be the trigger of myofiber necrosis in DMD ...
Yoshihiro Wakayama, Takahiro Jimi
wiley +1 more source
Proteomic Profiling of Myofiber Repair Annexins and Their Role in Duchenne Muscular Dystrophy
PROTEOMICS, EarlyView.ABSTRACT Myofiber regeneration and membrane repair play crucial roles in maintaining the continuous physiological functioning of the neuromuscular system. A swift and efficient repair mechanism enables the rapid restoration of sarcolemmal integrity following cellular impairment in damaged skeletal muscles.
Paul Dowling +6 more
wiley +1 more source
PM&R, EarlyView.Abstract Objective This systematic review and meta‐analysis aimed to synthesize the current evidence on the efficacy of various technological interventions for gait rehabilitation in adults with incomplete spinal cord injury (iSCI). Literature survey MEDLINE (accessed by PubMed), Embase, Cochrane Central Register of Controlled Trials (Cochrane CENTRAL),
Emerson de Carvalho +3 more
wiley +1 more source
Muscle fatigue in patients with severe long COVID: A 2‐year follow‐up study
PM&R, EarlyView.Abstract Background Fatigue is recognized as one of the most persistent and debilitating symptoms of long COVID, affecting both functionality and quality of life. However, its long‐term effects, especially beyond the first year after infection, remain poorly understood.
Isabella da Silva Almeida +6 more
wiley +1 more source
Smart Molecules, EarlyView.The present study establishes a paradigm shift in synthetic mRNA delivery through the convergence of three orthogonal chemistries—perfluoro‐acylation, bio‐orthogonal click cross‐linking, and disulfide reduction—within a single, modular polymer architecture. Abstract A fundamental constraint of conventional messenger RNA (mRNA) delivery systems is their
Yue Wang +8 more
wiley +1 more source