Results 181 to 190 of about 1,483,548 (288)

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

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

[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

Two Years of Ocrelizumab Treatment in Black and Hispanic People with Multiple Sclerosis in CHIMES: A Single‐Arm Clinical Trial

open access: yesAnnals of Neurology, EarlyView.
Objective To evaluate the effectiveness and safety of ocrelizumab in self‐identified black and Hispanic people with relapsing multiple sclerosis. Methods The Characterization of Ocrelizumab in Minorities with Multiple Sclerosis (CHIMES) trial, a prospective, open‐label, single‐arm, phase 4 study, intentionally recruited underrepresented populations in ...
Lilyana Amezcua   +16 more
wiley   +1 more source

Silk Fibroin for Cardiovascular Medical Devices: Review of Material Properties, Applications, and Clinical Potential

open access: yesAdvanced NanoBiomed Research, EarlyView.
Silk fibroin is an attractive natural biomaterial that can be engineered into diverse cardiovascular constructs, including vascular grafts, cardiac patches, heart valves, and stent coatings. Its tunable biological and mechanical properties have driven substantial preclinical progress; however, widespread clinical translation in cardiovascular ...
Mahsa Haghighattalab   +8 more
wiley   +1 more source

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