Results 91 to 100 of about 42,113 (251)

Dystrophin isoform deficiency and upper‐limb and respiratory function in Duchenne muscular dystrophy

open access: yesDevelopmental Medicine &Child Neurology, EarlyView.
Mary Chesshyre, Deborah Ridout, Georgia Stimpson, Valeria Ricotti, Silvana De Lucia, Erik H Niks, Volker Straub, Laurent Servais, Jean‐Yves Hogrel, Giovanni Baranello, Adnan Manzur, UK NorthStar Clinical Network and Francesco Muntoni* on behalf of the iMDEX network.
Mary Chesshyre   +176 more
wiley   +1 more source

The lack of the Celf2a splicing factor converts a Duchenne genotype into a Becker phenotype

open access: yesNature Communications, 2016
Muscular Dystrophy can be caused by mutations in the dystrophingene, causing the severe Duchenne form or the mild Becker form depending on if the transcript is in or out-of-frame.
J. Martone   +7 more
doaj   +1 more source

Integrating ecological feedbacks across scales and levels of organization

open access: yesEcography, EarlyView.
In ecosystems, species interact in various ways with other species, and with their local environment. In addition, ecosystems are coupled in space by diverse types of flows. From these links connecting different ecological entities can emerge circular pathways of indirect effects: feedback loops.
Benoît Pichon   +4 more
wiley   +1 more source

Benefits of the Duchenne Smile and Positive Emotions. A Systematic Review

open access: yesEducaţia 21
The Duchenne smile is the genuine smile characterized by the activation of the muscles around the eyes and mouth. It has been associated, in the specialized literature, with the experience of positive emotions.
Violeta Lupu-Merca, Sebastian Vaida
doaj   +1 more source

Survey of duchenne type and congenital type of muscular dystrophy in Shimane, Japan [PDF]

open access: bronze, 1977
Kenzo Takeshita   +4 more
openalex   +1 more source

Stress exposure in the mdx mouse model of Duchenne muscular dystrophy provokes a widespread metabolic response

open access: yesThe FEBS Journal, EarlyView.
A targeted mass spectrometry‐based metabolomics assay was conducted to identify the impact of stress exposure on the regulation of biological stress pathways in the mdx mouse model of Duchenne muscular dystrophy. We demonstrated a broad shift in the circulating stress‐relevant plasma metabolome associated with stressful scruff handling that was ...
Erynn E. Johnson, James M. Ervasti
wiley   +1 more source

Fat embolism after fractures in Duchenne muscular dystrophy: an underdiagnosed complication? A systematic review

open access: yesTherapeutics and Clinical Risk Management, 2017
David Feder,1 Miriam Eva Koch,1 Beniamino Palmieri,2 Fernando Luiz Affonso Fonseca,1 Alzira Alves de Siqueira Carvalho3 1Pharmacology Department, Faculdade de Medicina do ABC, Santo André, São Paulo, Brazil; 2Department of General Surgery ...
Feder D   +4 more
doaj  

Potential cytotoxicity of truncated slow skeletal muscle troponin T (ssTnT) in a loss of function TNNT1 myopathy mouse model

open access: yesThe FEBS Journal, EarlyView.
A loss of function TNNT1 myopathy mouse model with the nonsense mutation p.E180* showed potential cytotoxicity of the truncated slow troponin T fragment. The mRNA expression profile in the soleus muscle of Tnnt1‐p.E180* mice showed very different changes in comparison to that of Tnnt1‐knockout mice.
Han‐Zhong Feng   +2 more
wiley   +1 more source

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