Results 91 to 100 of about 73,992 (251)

Electrophysiological Studies of Visual Attention and of Emotion Regulation [PDF]

open access: yes, 2019
Electrophysiological methods, such as electroencephalography (EEG) and electrocardiography (ECG), measure biological activity that allow us to infer underlying cognitive processes.
Chu, Veronica
core  

Diaphragm‐specific effects of L‐citrulline in mdx mice highlight its potential as adjuvant of standard therapy in Duchenne muscular dystrophy

open access: yesBritish Journal of Pharmacology, EarlyView.
Abstract Background and Purpose The absence of the protein dystrophin in Duchenne muscular dystrophy (DMD) leads to progressive muscle weakness, failing regeneration and deregulation of nitric oxide (NO) signalling. We focused on L‐citrulline, a precursor of L‐arginine, required for NO production in muscle, which is reduced in dystrophic mdx muscle ...
Lisamaura Tulimiero   +14 more
wiley   +1 more source

Caregivers and multidisciplinary team members’ perspectives on shared decision making in Duchenne muscular dystrophy: A qualitative study

open access: yesOrphanet Journal of Rare Diseases
Background As new therapies for Duchenne muscular dystrophy (DMD) are entering the market, shared decision making (SDM) will become increasingly important.
Elise Schoefs   +11 more
doaj   +1 more source

Parallelization Performances of PMSS Flow and Dispersion Modeling System over a Huge Urban Area

open access: yesAtmosphere, 2019
The use of modeling as a support tool for crisis management and decision planning requires fast simulations in complex built-up areas. The Parallel Micro SWIFT SPRAY (PMSS) modeling system offers a tradeoff between accuracy and fast calculations, while ...
Oliver Oldrini   +3 more
doaj   +1 more source

Mental wellbeing in non-ambulant youth with neuromuscular disorders: What makes the difference? [PDF]

open access: yes, 2018
The physical and social challenges associated with neuromuscular disorders may impact mental wellbeing in non-ambulant youth during the more vulnerable period of adolescence.
Downs, Jenny   +4 more
core   +1 more source

Whole Exome Sequencing for Romanian Patients With Neurodevelopmental Disorders Through an International Collaboration

open access: yesClinical Genetics, EarlyView.
Whole exome sequencing for Romanian patients with neurodevelopmental disorders through an international collaboration—this study has provided a 50% diagnostic yield for patients with NDDs (27 positive results from 54 patients), supporting the implementation of a WES analysis that can identify SNVs, small INDELs, CNVs, and mitochondrial variants ...
Alexandru Caramizaru   +16 more
wiley   +1 more source

Determination of qPCR Reference Genes Suitable for Normalizing Gene Expression in a Canine Model of Duchenne Muscular Dystrophy [PDF]

open access: yes
Background:Dogs with dystrophin-deficient muscular dystrophy are valuable models of the equivalent human disease, Duchenne Muscular Dystrophy (DMD): unlike the mdx mouse, these animals present a disease severity and progression that closely matches that ...
Aartsma-Rus   +50 more
core   +1 more source

Gene Therapies for Duchenne Muscular Dystrophy [PDF]

open access: yes, 2020
STEP Category: Undergraduate ResearchI spent the summer doing research in Dr. Paul Martin’s lab in the Center for Gene Therapy. While I worked on multiple projects, I spend most of my time on our canine gene therapy for Duchenne Muscular Dystrophy ...
Hamilton, Sonia
core  

The Molecular Diagnosis of Myopathies: Integrating Genomic, Proteomic, and Pathological Insights Toward Precision Medicine

open access: yesClinical Genetics, EarlyView.
Advances in genomic, proteomic, and transcriptomic technologies are transforming the diagnosis of genetic myopathies. When integrated with traditional muscle pathology, multi‐omics approaches improve diagnostic yield, clarify disease mechanisms, and support more precise, mechanism‐based therapeutic strategies for patients with neuromuscular disorders ...
Ludmila Alem   +2 more
wiley   +1 more source

Screening for brain‐related comorbidities in Duchenne muscular dystrophy: Construction, reliability, and validity of the BIND screener

open access: yesDevelopmental Medicine &Child Neurology, EarlyView.
The Brain Involvement iN Dystrophinopathies (BIND) screener is an 18‐item questionnaire with strong reliability and validity for identifying potential brain‐related comorbidities in Duchenne muscular dystrophy. It allows rapid, cross‐age and cross‐country screening for both clinical and research purposes, demonstrating good sensitivity and specificity.
Ruben Miranda   +46 more
wiley   +1 more source

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