Results 41 to 50 of about 1,827 (98)

Exploring the Content Validity of Patient‐Reported Outcome Measures to Capture the Patient Experience of Becker Muscular Dystrophy

open access: yesMuscle &Nerve, Volume 74, Issue 3, Page 559-569, September 2026.
ABSTRACT Introduction/Aims The patient experience of Becker muscular dystrophy (BMD) is not well understood, making it difficult to evaluate the conceptual relevance of proposed patient‐reported outcome (PRO) measures. This study aimed to conceptualize the patient experience of BMD and evaluate content validity and perceptions of meaningful changes of ...
Abby Bronson   +6 more
wiley   +1 more source

With Regard to the Expression Status of Sarcolemmal Aquaporin 4 in Human Muscular Dystrophies

open access: yesNeurology and Clinical Neuroscience, Volume 14, Issue 5, Page 354-361, September 2026.
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

open access: yesPROTEOMICS, Volume 26, Issue 9, Page 6-23, September 2026.
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

Metal‐Filamentary Memristor‐Based Artificial Neurons for Embodied Neuromorphic Intelligence

open access: yesRare Metals, Volume 45, Issue 9, September 2026.
ABSTRACT Embodied neuromorphic intelligence represents a transformative paradigm for next‐generation intelligent systems, with broad implications for robotics, autonomous driving, intelligent manufacturing, and smart infrastructures. Neuromorphic chips enable bioinspired computing with sparse, heterogeneous representations and spatiotemporal dynamics ...
Tianci Huang, Zuqing Yuan, Qilin Hua
wiley   +1 more source

Safety, Tolerability, Pharmacokinetics, Food Effect of Ribitol, and Its Effect on QTcF in Healthy Adults: First‐in‐Human, Randomized, Double‐Blind (Sponsor Unblinded), Placebo‐Controlled Studies

open access: yesClinical Pharmacology in Drug Development, Volume 15, Issue 8, August 2026.
Abstract Limb‐girdle muscle dystrophy Type R9 (LGMDR9), also known as LGMD Type 2I, is a rare genetic disease caused by partial loss of function of fukutin‐related protein (FKRP) enzyme which glycosylates alpha‐dystroglycan, thereby stabilizing myocytes during contraction.
Daniel D. Gretler   +4 more
wiley   +1 more source

A Bio-Inspired Probabilistic Neural Network Model for Noise-Resistant Collision Perception

open access: yesBiomimetics
Bio-inspired models based on the lobula giant movement detector (LGMD) in the locust’s visual brain have received extensive attention and application for collision perception in various scenarios.
Jialan Hong   +3 more
doaj   +1 more source

Bone health in adults with non‐ambulatory neuromuscular disorders: scoping review of risk factors, diagnosis and management

open access: yesInternal Medicine Journal, Volume 56, Issue 8, Page 1283-1300, August 2026.
Abstract Background Non‐ambulatory adults have an increased risk of osteoporosis and fractures due to reduced weight‐bearing and diminished neuromuscular stimulation, resulting in substantial morbidity and mortality. Aims This scoping review aimed to systematically evaluate risk factors, diagnostic indicators and management strategies for optimising ...
Thomas Bailey   +4 more
wiley   +1 more source

Advances in diagnosis and treatment of limb-girdle muscular dystrophy

open access: yesChinese Journal of Contemporary Neurology and Neurosurgery, 2017
Limb - girdle muscular dystrophy (LGMD) is a group of disorders caused by gene mutations, with proximal muscle weakness as their main manifestation. Although various subtypes of LGMD share the common feature, heterogenity exist both in clinical phenotype
Meng YU, Zhao-xia WANG
doaj  

Evaluation of quantitative muscle MRI and an intelligent phenotyping housing system as advanced phenotyping methods in a mouse model of calpain 3‐deficient muscular dystrophy

open access: yesAnimal Models and Experimental Medicine, Volume 9, Issue 7, Page 1469-1479, July 2026.
We applied quantitative MRI of the lower limb and automated home‐cage phenotyping to a mouse model of calpainopathy to detect early disease changes. At 15 months, calpain 3‐deficient mice showed increased water T2 values correlating with immune cell infiltration in the soleus and gastrocnemius muscles, while assessment of motor activity revealed only ...
Nicolina Südkamp   +12 more
wiley   +1 more source

Whole Exome Sequencing for Romanian Patients With Neurodevelopmental Disorders Through an International Collaboration

open access: yesClinical Genetics, Volume 110, Issue 1, Page 46-63, July 2026.
Whole exome sequencing for Romanian patients with neurodevelopmental disorders through an international collaboration—this study has provided a 50% diagnostic yield for patients with NDDs (27 positive results from 54 patients), supporting the implementation of a WES analysis that can identify SNVs, small INDELs, CNVs, and mitochondrial variants ...
Alexandru Caramizaru   +16 more
wiley   +1 more source

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