Results 121 to 130 of about 304,862 (304)

Human biomarker navigator

open access: yesiMeta, EarlyView.
The Human Biomarker Navigator integrates the disease continuum, biomarker dynamics, cross‐organ biomarker networks, biomarker classification, and technology‐driven paradigms. It maps how biomarkers link multi‐system physiology and pathology across the nervous, respiratory, endocrine, circulatory, immune, digestive, urinary, reproductive, and ...
Meng‐Yao Li   +29 more
wiley   +1 more source

Dietary management and feeding considerations of pediatric aerodigestive and upper gastrointestinal motility disorders: A position paper by the North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition (NASPGHAN) Neurogastroenterology and Motility Committee

open access: yesJournal of Pediatric Gastroenterology and Nutrition, EarlyView.
Abstract Objective Pediatric aerodigestive and upper gastrointestinal (UGI) motility disorders are common and may be associated with compromised nutritional status and decreased quality of life. Traditional dietary recommendations for aerodigestive and UGI motility disorders have been rudimentary and largely based upon experience and common sense ...
Khalil El‐Chammas   +8 more
wiley   +1 more source

The value of dog for knowledge of human Duchenne muscular dystrophy: New findings in pathogenesis and therapeutic advances

open access: yes, 2015
Duchenne muscular dystrophy (DMD) is the most devastating form of inherited muscular dystrophy in men. The loss of dystrophin causes progressive weakness and degeneration of skeletal and cardiac muscle leading to the replacement of muscle by connective ...
Malvestio, Lygia M. [UNESP]   +3 more
core   +1 more source

Strategy for drug repurposing in fibroadipogenic replacement during muscle wasting: application to duchenne muscular dystrophy

open access: yesFrontiers in Cell and Developmental Biology
BackgroundUnderstanding the cell functionality during disease progression or drugs’ mechanism are major challenges for precision medicine. Predictive models describing biological phenotypes can be challenging to obtain, particularly in scenarios where ...
Izzy Matthews   +13 more
doaj   +1 more source

Refining the genetics of muscular dystrophies with defective glycosylation of dystroglycan [PDF]

open access: yes, 2010
The aberrant glycosylation of α-dystroglycan is associated with a subset of clinically heterogeneous muscular dystrophies collectively referred to as dystroglycanopathies.
Godfrey, C.
core  

Nail Disorders in Systemic Conditions

open access: yesJEADV Clinical Practice, EarlyView.
ABSTRACT Nail findings in children can be indicative of an underlying systemic disease. Many of these findings are seen in multiple entities and are not specific to one disease. The importance of specifically examining for these nail changes cannot be overstated.
Jane Sanders Bellet
wiley   +1 more source

Patient engagement in clinical trial design for rare neuromuscular disorders: impact on the DELIVER and ACHIEVE clinical trials

open access: yesResearch Involvement and Engagement
Background Engaging individuals living with disease in drug development and regulatory processes leads to more thoughtful and sensitive trial designs, drives more informative and meaningful outcomes from clinical studies, and builds trust between the ...
Patricia Furlong   +2 more
doaj   +1 more source

Precision Medicine in Neurodegeneration with Brain Iron Accumulation (NBIA) Disorders: An Update on Emerging Treatments

open access: yesMovement 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

Pharmacological management of Duchenne muscular dystrophy

open access: yes, 2021
Duchenne muscular dystrophy is an inherited disorder mainly affecting males causing progressive skeletal and cardiac muscle weakness. The males can additionally have many complications, including cardiomyopathy, respiratory insufficiency, orthopedic ...
Gudmundsdottir, Andrea
core  

Genetic Etiologies of Dystonia with Anarthria/Aphonia

open access: yesMovement Disorders Clinical Practice, EarlyView.
Abstract Background Dystonia with anarthria and/or aphonia (DAnAp) represents a distinctive phenotype manifesting across lifespan. Frequently associated with genetic disorders, early recognition is critical for diagnosis and management. Objectives To provide practical recommendations for the clinical evaluation of patients with DAnAp, enhancing ...
Anika Ménétrey   +7 more
wiley   +1 more source

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