نتایج جستجو برای: muscular dystrophies

تعداد نتایج: 45375  

Journal: :Canadian Journal of Respiratory, Critical Care, and Sleep Medicine 2018

Journal: :American journal of human genetics 2017
Manuela Wiessner Andreas Roos Christopher J Munn Ranjith Viswanathan Tamieka Whyte Dan Cox Benedikt Schoser Caroline Sewry Helen Roper Rahul Phadke Chiara Marini Bettolo Rita Barresi Richard Charlton Carsten G Bönnemann Osório Abath Neto Umbertina C Reed Edmar Zanoteli Cristiane Araújo Martins Moreno Birgit Ertl-Wagner Rolf Stucka Christian De Goede Tamiris Borges da Silva Denisa Hathazi Margherita Dell'Aica René P Zahedi Simone Thiele Juliane Müller Helen Kingston Susanna Müller Elizabeth Curtis Maggie C Walter Tim M Strom Volker Straub Kate Bushby Francesco Muntoni Laura E Swan Hanns Lochmüller Jan Senderek

Phosphoinositides are small phospholipids that control diverse cellular downstream signaling events. Their spatial and temporal availability is tightly regulated by a set of specific lipid kinases and phosphatases. Congenital muscular dystrophies are hereditary disorders characterized by hypotonia and weakness from birth with variable eye and central nervous system involvement. In individuals e...

Journal: :The American Journal of Pathology 2017

2013
Aurora Sáez Eloy Rivas Adoración Montero-Sánchez Carmen Paradas Begoña Acha Alberto Pascual Carmen Serrano Luis M Escudero

BACKGROUND The diagnosis of neuromuscular diseases is strongly based on the histological characterization of muscle biopsies. However, this morphological analysis is mostly a subjective process and difficult to quantify. We have tested if network science can provide a novel framework to extract useful information from muscle biopsies, developing a novel method that analyzes muscle samples in an...

Journal: :American journal of physiology. Regulatory, integrative and comparative physiology 2015
Grete Andersen Mette C Ørngreen Nicolai Preisler Tina D Jeppesen Thomas O Krag Simon Hauerslev Gerrit van Hall John Vissing

In healthy individuals, postexercise protein supplementation increases muscle protein anabolism. In patients with muscular dystrophies, aerobic exercise improves muscle function, but the effect of exercise on muscle protein balance is unknown. Therefore, we investigated 1) muscle protein balance before, during, and after exercise and 2) the effect of postexercise protein-carbohydrate supplement...

2007
James G. Tidball Michelle Wehling-Henricks

Tidball JG, Wehling-Henricks M. The role of free radicals in the pathophysiology of muscular dystrophy. J Appl Physiol 102: 1677–1686, 2007. doi:10.1152/japplphysiol.01145.2006.—Null mutation of any one of several members of the dystrophin protein complex can cause progressive, and possibly fatal, muscle wasting. Although these muscular dystrophies arise from mutation of a single gene that is e...

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