Results 271 to 280 of about 183,642 (350)

Low‐dose lithium supplementation promotes musculoskeletal and metabolic health in ovariectomized female mice

open access: yesThe Journal of Physiology, EarlyView.
Abstract figure legend Low‐dose lithium supplementation in ovariectomized mice enhances skeletal muscle contractility (isometric force and fatigue resistance), SERCA function and promotes favourable transcriptional reprogramming, while increasing bone density and modestly improving insulin sensitivity.
Bianca M. Marcella   +8 more
wiley   +1 more source

Comparative Analysis of Conventional Ideal Button Versus New Ideal Button ZERO for Percutaneous Endoscopic Gastrostomy Catheter Replacement

open access: yesDEN Open, Volume 6, Issue 1, April 2026.
ABSTRACT Objectives Regular exchange of percutaneous endoscopic gastrostomy (PEG) catheters is crucial for preventing infection and maintaining function; however, procedure‐related complications and patient discomfort remain major concerns. This study aimed to compare the clinical outcomes of the conventional Ideal Button with those of the newly ...
Kazuya Miyaguchi   +8 more
wiley   +1 more source

Muscle fibre type shift in COPD: Adaptive, maladaptive or a bit of both?

open access: yes
Experimental Physiology, EarlyView.
Jacob Peter Hartmann   +2 more
wiley   +1 more source

Variant Update on ASCC1 : Characterization of the First Homozygous Missense Variant Involved in Prenatal‐Onset Spinal Muscular Atrophy With Congenital Bone Fractures 2

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 744-748, March 2026.
ABSTRACT Spinal muscular atrophy with congenital bone fractures 2 is a rare and severe autosomal recessive neuromuscular disorder caused by pathogenic variants in ASCC1. This condition characterized by prenatal onset of severe hypotonia with fetal hypokinesia and congenital contractures results in arthrogryposis multiplex congenita, and increased ...
A. Civit   +16 more
wiley   +1 more source

RNA‐Based Therapies for Inherited Metabolic Disorders

open access: yesJournal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Inherited metabolic disorders (IMDs) are a diverse and complex group of genetic conditions resulting from deficiencies in enzymes, transporters, or cofactors. These deficiencies lead to metabolic dysfunction and severe clinical consequences. Despite significant progress in understanding their molecular basis, treatment options remain limited ...
Reddy Sreekanth Vootukuri   +5 more
wiley   +1 more source

Epilepsy Phenotype and EEG Finding of Rhythmic High‐Amplitude Delta With Superimposed Spikes (RHADS) in Succinate Dehydrogenase Deficiency

open access: yesJIMD Reports, Volume 67, Issue 2, March 2026.
ABSTRACT Succinate dehydrogenase (SDH) serves a dual function as complex II of the electron transport chain and an enzyme of the tricarboxylic acid cycle. Pathogenic variants in subunits of SDH result in diverse clinical presentations, including typically autosomal recessive neurodegenerative disorders. Biallelic variants in the SDHA subunit most often
Aaron B. Bowen   +7 more
wiley   +1 more source

Unmasking MEGF10 Myopathy: A Rare Cause of Sudden Respiratory Failure in a Young Adult. [PDF]

open access: yesCase Rep Neurol Med
Kleiser B   +6 more
europepmc   +1 more source

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