Results 181 to 190 of about 2,506,948 (303)

Characterization and Analysis of PHEX Variants in Patients With Hypophosphatemia in Argentina

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Confirming the underlying molecular etiology of hereditary hypophosphatemia (HH) to provide recurrence risk counseling is highly important. Our aims were to describe the detected variants and their distribution across Argentina and to contrast them with published data.
Silvia Ávila   +3 more
wiley   +1 more source

Perceived Recovery and Muscle Fatigue in Professional Soccer Players During Preseason. [PDF]

open access: yesInt J Exerc Sci
Maleš J   +4 more
europepmc   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen   +5 more
wiley   +1 more source

Effectiveness of intermittent hypoxia on muscle recovery in rats: A systematic review

open access: yesAnimal Models and Experimental Medicine, EarlyView.
This systematic review of animal studies evaluated intermittent hypobaric hypoxia (IHH), cold exposure, and their combinations, with or without exercise, on skeletal muscle recovery. IHH enhanced muscle regeneration, reduced fibrosis, improved contractile force, and maintained oxidative capacity, while cold exposure increased mitochondrial activity but
Sebastian Philippe Hansen Quiblier   +3 more
wiley   +1 more source

[Cluster-guided adaptive Transformer for muscle fatigue prediction]. [PDF]

open access: yesSheng Wu Yi Xue Gong Cheng Xue Za Zhi
Fan B, Bao X, Ding L, Wu J.
europepmc   +1 more source

Analysis of energy expenditure and behavioral characteristics in different mouse strains under normal and disease conditions

open access: yesAnimal Models and Experimental Medicine, EarlyView.
Mouse metabolic and behavioral phenotypes are tightly linked to strain, age and disease state, with distinct dysregulation in each disease model, underscoring the need for standardized preclinical experimental conditions. Abstract Background Metabolic and behavioral traits in mice exhibit substantial variability across strains, ages, and disease states,
Jiacheng Zeng   +17 more
wiley   +1 more source

Cardiovascular Exercise Drives Neuroprotection in a Mouse Model of Spinocerebellar Ataxia 1 Via Rescue of Aberrant Splicing

open access: yesAnnals of Neurology, EarlyView.
Objective Spinocerebellar ataxia 1 (SCA1) is a fatal hereditary neurodegenerative disorder with no approved therapies, and gene‐targeting strategies have thus far failed in clinical trials. Exercise remains the only intervention shown to provide clinical benefit in patients with spinocerebellar ataxias (SCAs), yet the underlying mechanisms remain ...
Isabel Soto   +12 more
wiley   +1 more source

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