Results 131 to 140 of about 879,135 (289)
Respiratory muscle work and inspiratory muscle training on cytokines, oxidative stress and diaphragm fatigue in younger and older populations [PDF]
, 2013 Increased respiratory muscle work is encountered during strenuous whole-body exercise, and at rest in older adults and those with pulmonary limitations such as chronic obstructive pulmonary disease (COPD).
Mills, DE
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Movement Disorders Clinical Practice, EarlyView.Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño +6 more
wiley +1 more source
Movement Disorders Clinical Practice, EarlyView.Abstract Background Neurodegeneration with Brain Iron Accumulation (NBIA) is a heterogeneous group of heritable, mostly recessive, progressive neurodegenerative diseases characterized by iron deposition in the basal ganglia and brainstem. There are no solid global epidemiological data on prevalence and incidence of NBIA subtypes, but registry data and ...
Susanne A. Schneider +3 more
wiley +1 more source
JAK2 Variant and Parkinsonian Syndromes: Coincidence or Pathophysiological Link?
Movement Disorders Clinical Practice, EarlyView.Abstract Background JAK2 variants are a hallmark of myeloproliferative neoplasms (MPNs), including polycythemia vera and essential thrombocythemia. These disorders are often associated with thrombotic and inflammatory complications. From a movement disorder perspective, chorea is a rare but well‐recognized neurological occurrence in this context ...
Elena Ardila Jurado +5 more
wiley +1 more source
Ablation of smooth muscle myosin heavy chain SM2 increases smooth muscle contractility and results in postnatal death in mice [PDF]
, 2008 The smooth muscle myosin heavy chains (SMHC) are motor proteins powering smooth muscle contraction. Alternate splicing of SHMC gene at the C-terminus produces SM1, and SM2 myosin isoforms; SM2 (200 kDa) contains a unique 9-amino-acid sequence at the ...
Mei Chi +4 more
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Assessment of Lectin Staining Biomarkers for GNE Myopathy Gene Therapy
Muscle &Nerve, EarlyView.ABSTRACT Introduction/Aims GNE myopathy (GNEM) is a rare, autosomal recessive disorder caused by mutations in the UDP‐N‐acetylglucosamine (GlcNAc) 2‐epimerase/N‐acetylmannosamine (ManNAc) kinase (GNE) gene, which encodes a required enzyme for sialic acid (SA) biosynthesis.
Kristina M. Sattler +8 more
wiley +1 more source
Congenital Intraoral Synechiae: A Scoping Review of Airway, Feeding, and Surgical Management
Otolaryngology–Head and Neck Surgery, EarlyView.Abstract Objective To map the existing literature on congenital intraoral synechiae and summarize reported anatomic patterns, clinical presentation, associated anomalies/syndromes, and outcomes to inform standardized diagnostic and therapeutic approaches. Data Sources PubMed, CINAHL, Embase, Web of Science, and Google Scholar were searched from January
Jason Bernier, Mathieu Bergeron
wiley +1 more source
Journal of Pediatric NephrologyBackground and Aim: Vesicoureteral reflux is the abnormal return of urine from the bladder to the urethra and kidney. Muscle weakness means the decrease in muscle force. Due to witnessing uremic myopathy in patients with kidney diseases we will study the relation between muscle weakness and reflux nephropathy in this article.
openaire +1 more source
Prenatal Diagnosis, EarlyView.ABSTRACT Objective Trisomy 21 (T21) is associated with various neurological impairments. However, the mechanisms of fetal brain development in T21 and their impact on neurodevelopmental outcomes remain unclear, limiting prenatal counseling. Therefore, this study aims to assess neuropathological changes in fetuses with T21 and the associated ...
Christina Haberl +9 more
wiley +1 more source