Results 131 to 140 of about 604,348 (394)
Spinal Muscular Atrophy and Arthrogryposis
Pediatric Neurology Briefs, 1997 Four infants with neurogenic arthrogryposis who died of respiratory failure before 1 month of age had DNA testing of autopsy specimens for SMNT gene deletion in a study at the Children’s Hospital of Philadelphia, PA, and the Children’s Hospital at ...
J Gordon Millichap
doaj +1 more source
Immune myopathies with perimysial pathology: Clinical and laboratory features [PDF]
, 2018 ObjectiveImmune myopathies with perimysial pathology (IMPP) have a combination of damage to perimysial connective tissue and muscle fiber necrosis, more prominent near the perimysium.
Bucelli, Robert C, Pestronk, Alan
core +2 more sources
Advanced Functional Materials, EarlyView.This review discusses cellulose‐based hydrogels technology, analyzes their application progress in physiological signal monitoring, and explores the effects of pretreatment, crosslinking, and molding methods on gel performance, to provide valuable insights into the efficient utilization of plant fibers and the environmentally friendly development of ...
Zhiming Wang +8 more
wiley +1 more source
3D‐Printed Soft Magnetoactive Origami Actuators
Advanced Functional Materials, EarlyView.Soft magnetoactive films are 3D‐printed using ink with up to 75 wt.% ferromagnetic particles and dual UV/heat curing, then integrated with various origami structures. The films are flexible, magnetically responsive, and programmable, enabling flexible integration with origami without hindering shape‐changeability.
Sen Zhang +6 more
wiley +1 more source
A trigger-happy soldier with bilateral ptosis and dysphagia
Biomedical Journal, 2015 Muscular dystrophy encompasses a group of disorders characterized by the progressive weakness of the skeletal muscles. These disorders are mostly inherited and have characteristic age and muscle group predilection.
F.M.H. Ahmad, K.V.S. Hari Kumar
doaj +1 more source
The potential therapeutic effects of creatine supplementation on body composition and muscle function in cancer [PDF]
, 2018 Low muscle mass in individuals with cancer has a profound impact on quality of life and independence and is associated with greater treatment toxicity and poorer prognosis.
Fairman, C M +5 more
core +2 more sources
Nusinersen in later-onset spinal muscular atrophy
Neurology, 2019 Objective To report results of intrathecal nusinersen in children with later-onset spinal muscular atrophy (SMA). Methods Analyses included children from a phase 1b/2a study (ISIS-396443-CS2; NCT01703988) who first received nusinersen during that study ...
B. Darras +16 more
semanticscholar +1 more source
Advanced Oral Delivery Systems for Nutraceuticals
Advanced Healthcare Materials, EarlyView.Emerging delivery technologies are explored to overcome barriers to oral nutraceutical absorption. Traditional carriers are compared with novel platforms including biodegradable polymers, MOFs, MPNs, and 3D printing. These systems enhance bioavailability, control release, and enable personalized nutrition.
Xin Yang +4 more
wiley +1 more source
PROGRESSIVE SPINAL MUSCULAR ATROPHY OF INFANTS (WERDNIG-HOFFMANN TYPE) [PDF]
, 1912 F. E. Batten, Gordon Holmes
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From the cell membrane to the nucleus: unearthing transport mechanisms for Dynein [PDF]
, 2012 Mutations in the motor protein cytoplasmic dynein have been found to cause Charcot-Marie-Tooth disease, spinal muscular atrophy, and severe intellectual disabilities in humans. In mouse models, neurodegeneration is observed.
A. Friedman +53 more
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