Results 61 to 70 of about 57,426 (267)

LMNA‐related muscular dystrophy presenting as an inflammatory myopathy

open access: yesAnnals of the Child Neurology Society
Introduction There are overlapping features between inflammatory myopathies and muscular dystrophies, particularly laminopathies. Key features that characterize laminopathies include axial and proximal weakness, contractures, and cardiac abnormalities ...
Alexandra Santana Almansa   +7 more
doaj   +1 more source

Advances in imaging of brain abnormalities in neuromuscular disease

open access: yesTherapeutic Advances in Neurological Disorders, 2019
Brain atrophy, white matter abnormalities, and ventricular enlargement have been described in different neuromuscular diseases (NMDs). We aimed to provide a comprehensive overview of the substantial advancement of brain imaging in neuromuscular diseases ...
Corrado Angelini, Elena Pinzan
doaj   +1 more source

A nonsense mutation in B3GALNT2 is concordant with hydrocephalus in Friesian horses [PDF]

open access: yes, 2015
Background: Hydrocephalus in Friesian horses is a developmental disorder that often results in stillbirth of affected foals and dystocia in dams. The occurrence is probably related to a founder effect and inbreeding in the population.
Back, Willem   +11 more
core   +3 more sources

Trends in Dermatopolymyositis Mortality, 1999–2022: A Nationwide Population‐Based Study, United States

open access: yesArthritis Care &Research, EarlyView.
We report the national burden of dermatopolymyositis mortality over the past quarter century using the US national vital statistics data. Age‐standardized mortality rates for dermatopolymyositis decreased at an annual rate of 3.8% each year, which was higher than the annual percent decrease for deaths from all other causes.
Elizabeth Matz, Ram R. Singh
wiley   +1 more source

Three case series involving progresive motor deficit [PDF]

open access: yesRomanian Journal of Neurology, 2016
The muscular dystrophies are a group of inherited, non-inflammatory disorders, consisting of progressive muscle wasting, without peripheral or central nerve involvement.
Bogdan Pana   +3 more
doaj   +1 more source

Versatile Cell Penetrating Peptide for Multimodal CRISPR Gene Editing in Primary Stem Cells

open access: yesAdvanced Functional Materials, EarlyView.
CRISPR machinery in diverse molecular formats (DNA, RNA, and ribonucleic protein) is complexed into nanoparticles with the cell‐friendly arginine‐alanine‐leucine‐alanine (RALA) cell‐penetrating peptide. Nanoparticles are delivered to primary mesenchymal stem cells ex vivo or locally in vivo to facilitate multimodal CRISPR gene editing. This RALA‐CRISPR
Joshua P. Graham   +9 more
wiley   +1 more source

Treating Duchenne Muscular Dystrophy: The Promise of Stem Cells, Artificial Intelligence, and Multi-Omics

open access: yesFrontiers in Cardiovascular Medicine, 2022
Muscular dystrophies are chronic and debilitating disorders caused by progressive muscle wasting. Duchenne muscular dystrophy (DMD) is the most common type. DMD is a well-characterized genetic disorder caused by the absence of dystrophin.
Carlos D. Vera   +4 more
doaj   +1 more source

Can human pluripotent stem cell-derived cardiomyocytes advance understanding of muscular dystrophies? [PDF]

open access: yes, 2016
Muscular dystrophies (MDs) are clinically and molecularly a highly heterogeneous group of single-gene disorders that primarily affect striated muscles.
Denning, Chris   +2 more
core   +4 more sources

Biosupercapacitors for Human‐Powered Electronics

open access: yesAdvanced Functional Materials, EarlyView.
Biosupercapacitors are emerging as biocompatible and integrative energy systems for next‐generation bioelectronics, offering rapid charge–discharge performance and mechanical adaptability. This review systematically categorizes their applications from external to organ‐level systems and highlights their multifunctional roles in sensing, actuation, and ...
Suhyeon Kim   +7 more
wiley   +1 more source

fhl2b mediates extraocular muscle protection in zebrafish models of muscular dystrophies and its ectopic expression ameliorates affected body muscles

open access: yesNature Communications
In muscular dystrophies, muscle fibers loose integrity and die, causing significant suffering and premature death. Strikingly, the extraocular muscles (EOMs) are spared, functioning well despite the disease progression.
Nils Dennhag   +11 more
doaj   +1 more source

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