Results 41 to 50 of about 92,802 (302)
The expressivist objection to prenatal testing : the experiences of families living with genetic disease [PDF]
, 2014 The expressivist objection to prenatal testing is acknowledged as a significant critique of prenatal testing practices most commonly advanced by disability rights supporters.
Felicity Kate Boardman +2 more
core +1 more source
PGC-1alpha regulates the neuromuscular junction program and ameliorates Duchenne muscular dystrophy [PDF]
, 2007 The coactivator PGC-1alpha mediates key responses of skeletal muscle to motor nerve activity. We show here that neuregulin-stimulated phosphorylation of PGC-1alpha and GA-binding protein (GABP) allows recruitment of PGC-1alpha to the GABP complex and ...
Handschin, C. +11 more
core +1 more source
Pediatric Blood &Cancer, EarlyView.ABSTRACT Background Pediatric cancer remains a leading cause of morbidity and mortality worldwide, particularly in low‐and middle‐income countries. Cancer treatment may impair nutritional status, alter body composition, and exacerbate cancer‐related fatigue (CRF).
Luís Carlos Lopes‐Junior +11 more
wiley +1 more source
Development of Therapies for Spinal Muscular Atrophy Using Gene Therapy and Nanotechnology [PDF]
, 2013 Spinal muscular atrophy (SMA) is a genetic disease which is characterized by muscle weakness and atrophy. The disease arises from mutations in the survival motor neuron 1 (SMN1) gene causing degeneration of spinal cord motor neurons.
Little, Daniel
core
Molecular Mechanisms of Neurodegeneration in Spinal Muscular Atrophy [PDF]
, 2016 Spinal muscular atrophy (SMA) is an autosomal recessive motor neuron disease with a high incidence and is the most common genetic cause of infant mortality. SMA is primarily characterized by degeneration of the spinal motor neurons that leads to skeletal
Saif Ahmad +7 more
core +1 more source
Targeting the 5' untranslated region of SMN2 as a therapeutic strategy for spinal muscular atrophy [PDF]
, 2022 Nucleic acid therapeutics allow sequence-based targeting of disease genes, such as the genes involved in spinal muscular atrophy (SMA) pathogenesis. SMA is a neuromuscular disorder caused by mutations in the survival motor neuron 1 gene (SMN1).
Winkelsas, Audrey
core +2 more sources
Therapeutic Apheresis and Dialysis, EarlyView.ABSTRACT Background Maintenance hemodialysis (MHD) patients frequently suffer from frailty, characterized by reduced physical function and poor prognosis. Myokines, such as myonectin, secreted by muscle, are emerging regulators of systemic health. This study investigated the relationship between serum myonectin, adipokines (adiponectin, omentin), and ...
Kenichi Kono +7 more
wiley +1 more source
Iranian Journal of Public Health, 2020 The Charcot-Marie-Tooth disease is a group of progressive disorders that affects the peripheral nerves and results in loss of sensation and atrophy of muscles in lower limbs.
Atefeh MEHRABI +4 more
doaj +1 more source
Rapid Prenatal Diagnosis of Spinal Muscular Atrophy by Denaturing High- Performance Liquid Chromatography System [PDF]
, 2011 Objective. Use of Denaturing High-Performance Liquid Chromatography ( DHPLC) in prenatal diagnosis of spinal muscular atrophy (SMA). Methods. Thirty-three members of 7 families participated in carrier test and disease detection of SMA.
蕭勝文;鄭博仁;張舜智;林玉婷;洪加政;陳持平;蘇怡寧 +1 more
core +1 more source