Results 71 to 80 of about 25,343 (235)

Resistance training load does not determine resistance training‐induced hypertrophy across upper and lower limbs in healthy young males

open access: yesThe Journal of Physiology, EarlyView.
Abstract figure legend In healthy young males, we found that skeletal muscle hypertrophy following a period of resistance exercise training (RET) was consistent within and between subjects, as assessed using a variety of established methods. The skeletal muscle hypertrophic response was independent of external load.
Matthew J. Lees   +11 more
wiley   +1 more source

Dystrophin S3059 phosphorylation partially attenuates denervation atrophy in mouse tibialis anterior muscles

open access: yesPhysiological Reports
The dystrophin protein has well‐characterized roles in force transmission and maintaining membrane integrity during muscle contraction. Studies have reported decreased expression of dystrophin in atrophying muscles during wasting conditions, and that ...
Kristy Swiderski   +8 more
doaj   +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

DYSTROPHIN GEN MUTATIONS IN THE POPULATION OF AZERBAIJAN REPUBLIC [PDF]

open access: bronze, 2020
S. A. Aghayeva   +5 more
openalex   +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

Duchenne muscular dystrophy treatment with lentiviral vector containing mini‐dystrophin gene in vivo

open access: yesMedComm
Duchenne muscular dystrophy (DMD) is an incurable X‐linked recessive genetic disease caused by mutations in the dystrophin gene. Many researchers aim to restore truncated dystrophin via viral vectors.
Xiaoyu Wang   +11 more
doaj   +1 more source

Corticosteroid therapy in Duchenne muscular dystrophy: Management and new insights

open access: yes
Developmental Medicine &Child Neurology, EarlyView.
Claudia Brogna, Eugenio Mercuri
wiley   +1 more source

Proteome‐Wide Analysis of Human Deletions

open access: yesProteins: Structure, Function, and Bioinformatics, Volume 94, Issue 3, Page 853-870, March 2026.
ABSTRACT Protein deletions are frequent among both natural and pathogenic variations. Many of them are misclassified in variation databases and the literature. Nonsense‐mediated decay prevents the expression of many nucleotide deletions. Many variants classified as protein deletions are not expressed at all.
Haoyang Zhang   +2 more
wiley   +1 more source

Implantable Drug Delivery Systems for Skeletal Muscles and Eyes

open access: yesAdvanced NanoBiomed Research, Volume 6, Issue 2, February 2026.
This review highlights the different types of recent implantable drug delivery systems (IDDS) fabricated for a use with skeletal muscles, and with eyes. It presents the developments already made and the current research directions, showing the evolution of IDDS and their great diversity.
Serge Ostrovidov   +8 more
wiley   +1 more source

Combined Right Ventricular Preload and Afterload Challenge Induces Contractile Dysfunction and Ventricular Arrhythmia in an Age-dependent Manner in Isolated Hearts of Dystrophin-deficient Mice [PDF]

open access: gold, 2023
Andrew Behrmann   +9 more
openalex   +1 more source

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