Results 101 to 110 of about 51,867 (216)

A Practical Guide to Chromosome Microarray Interpretation for Paediatricians

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Introduction Chromosome microarray (CMA) is a test commonly ordered by general paediatricians. It has diagnostic yield between 10%–15% in individuals with neurodevelopmental delay, autism and/or multiple congenital abnormalities. CMA identifies copy number variants (CNV) including deletions and duplications, which may be pathogenic, variants ...
Zachary E. McPherson, Margit Shah, Sarah Josephi‐Taylor, Brieana Dance, Benjamin Nash, Luke St Heaps, Dale Wright, Janette Hayward, Christopher Elliot, Joshua Steadson, Alan Ma   +10 more
wiley   +1 more source

The humorous standard

The European Journal of Humour Research
Laughter has been extensively studied by Darwin (1890). Van Hooff (1972; 1989) traced the phylogeny of smiling and laughter to non-human primate “grin-face” and “play face”, which signals non-serious attacks. Human cognition evolved beyond primate “play”
Lilia Ben Mansour
doaj   +1 more source

A Duchenne muszkuláris disztrófia (DMD) új farmakoterápiás lehetőségei: eteplirsen, drisapersen és ataluren

, 2015
A Duchenne muszkuláris disztrófia (DMD) egy gyorsan progrediáló gyógyíthatatlan betegség, amely az X kromoszómán elhelyezkedő dys gén által kódolt disztrofin fehérje mutációjának következtében jön létre.
Szőke, István Ervin
core  

Senolytics and exercise: Dual modalities for rejuvenating muscle

The Journal of Physiology, EarlyView.
Abstract figure legend The role of senolytics on the heart and skeletal muscle. Senescent cell burden increases with ageing, disuse and disease. The senolytics dasatinib+quercetin (D+Q), navitoclax and fisetin, as well as exercise, eliminate senescent cells, reducing senescent cell burden and their senescence‐associated secretory phenotype (SASP ...
Zeynep Elif Yesilyurt‐Dirican, Ce Qi, Uchenna Okpechi, Maya Strand Ford, Georgina M. Ellison‐Hughes   +4 more
wiley   +1 more source

The mitochondrial‐targeted antioxidant SkQ1 prevents skeletal muscle mitochondrial‐apoptotic but not necroptotic signalling during ovarian cancer

The Journal of Physiology, EarlyView.
Abstract figure legend An evaluation of the degree to which mitochondrial hydrogen peroxide emission (mH2O2)‐mediated apoptotic and necroptotic signalling contributes to skeletal muscle atrophy in an orthotopic epithelial ovarian cancer (EOC) model. To determine whether attenuating mH2O2 could prevent regulated cell death signalling and mitigate muscle
Shahrzad Khajehzadehshoushtar, Luca J. Delfinis, Fasih A. Rahman, Madison C. Garibotti, Shivam Gandhi, Aditya N. Brahmbhatt, Brooke A. Morris, Bianca Garlisi, Sylvia Lauks, Caroline Aitken, Leslie Ogilvie, Zhu‐Xu Zhang, Jeremy A. Simpson, Joe Quadrilatero, Jim Petrik, Christopher G. R. Perry   +15 more
wiley   +1 more source

β‐hydroxy‐β‐methylbutyrate improves fast‐twitch muscle function, histopathology and mitochondrial respiration in the D2.mdx dystrophic mouse

The Journal of Physiology, EarlyView.
Abstract figure legend β‐Hydroxy‐β‐methylbutyrate (HMB) enhances fast‐twitch muscle and mitochondrial function in D2.mdx mice. Male DBA/2J (wild‐type) and D2.mdx mice aged 3 or 6 months received daily β‐hydroxy‐β‐methylbutyrate (HMB; 1 mg g−1 day−1) via drinking water for 8 weeks. Fast‐twitch extensor digitorum longus (EDL) and slow‐twitch soleus (SOL)
Nicholas Giourmas, Hannah Lalunio, Memphis Calzoni, Ryan Bagaric, Craig A. Goodman, Alan Hayes   +5 more
wiley   +1 more source

Preimplantation genetic diagnosis associated to Duchenne muscular dystrophy

Einstein (São Paulo)
Duchenne muscular dystrophy is the most common muscle disease found in male children. Currently, there is no effective therapy available for Duchenne muscular dystrophy patients. Therefore, it is essential to make a prenatal diagnosis and provide genetic
Bianca Bianco, Denise Maria Christofolini, Gabriel Seixas Conceição, Caio Parente Barbosa   +3 more
doaj   +1 more source

Design for Duchenne. Linee guida per il progetto di costruzione o ristrutturazione di abitazioni per famiglie Duchenne. Distrofia muscolare, accessibilità, barriere.

, 2016
La Duchenne è una rara forma di distrofia muscolare che colpisce 1 bambino maschio su 3.500. I primi sintomi compaiono attorno ai 2-5 anni e portano a una paralisi totale dei muscoli.
Mincolelli, Giuseppe
core  

Time‐Efficient Interleaved Spin Density‐Weighted and Inversion Recovery 23Na MRI of the Human Calf Muscle at 7 T

Magnetic Resonance in Medicine, Volume 96, Issue 6, Page 2675-2684, December 2026.
ABSTRACT Purpose Spin density‐weighted (SDW) and inversion recovery (IR) 23Na MRI provide different sodium contrasts with complementary information. Therefore, the aim was to develop a time‐efficient sequence scheme capable of providing both contrasts by acquiring SDW and IR 23Na MRI data within a single sequence without additional measurement time ...
Tobias Wilferth, Fiona Meyer, Jordan M. Höhn, Michael Uder, Armin M. Nagel   +4 more
wiley   +1 more source

Hydroxamic Acids as HDAC Inhibitor Drug Leads for Malaria

Medicinal Research Reviews, Volume 46, Issue 6, Page 1477-1498, November 2026.
ABSTRACT Malaria is a global health threat, with an estimated 282 million cases and 610,000 malaria‐associated deaths reported in 2024. Most mortality is due to infection by Plasmodium falciparum parasites, with the highest burden occurring in Sub‐Saharan Africa.
Wisam A. Dawood, Jacinta R. Macdonald, Christian Anzenhofer, Tina S. Skinner‐Adams, Robert C. Reid, Thomas Kurz, David P. Fairlie, Katherine T. Andrews   +7 more
wiley   +1 more source