نتایج جستجو برای: dmd 6636 percent

تعداد نتایج: 101855  

2015
Corinne A. Betts Amer F. Saleh Carolyn A. Carr Suzan M. Hammond Anna M. L. Coenen-Stass Caroline Godfrey Graham McClorey Miguel A. Varela Thomas C. Roberts Kieran Clarke Michael J. Gait Matthew J. A. Wood

Duchenne muscular dystrophy (DMD) is a fatal neuromuscular disorder caused by mutations in the Dmd gene. In addition to skeletal muscle wasting, DMD patients develop cardiomyopathy, which significantly contributes to mortality. Antisense oligonucleotides (AOs) are a promising DMD therapy, restoring functional dystrophin protein by exon skipping. However, a major limitation with current AOs is t...

Journal: :The Lancet. Neurology 2010
Katharine Bushby Richard Finkel David J Birnkrant Laura E Case Paula R Clemens Linda Cripe Ajay Kaul Kathi Kinnett Craig McDonald Shree Pandya James Poysky Frederic Shapiro Jean Tomezsko Carolyn Constantin

Duchenne muscular dystrophy (DMD) is a severe, progressive disease that affects 1 in 3600-6000 live male births. Although guidelines are available for various aspects of DMD, comprehensive clinical care recommendations do not exist. The US Centers for Disease Control and Prevention selected 84 clinicians to develop care recommendations using the RAND Corporation-University of California Los Ang...

2017
Mostafa REZAEI TAVIRANI Farshad OkHOVATIAN Mona ZAMANIAN AZODI Majid REZAEI TAVIRANI

Objective Duchenne muscular dystrophy (DMD) is one of the mortal diseases, subjected to study in terms of molecular investigation. In this study, the protein interaction map of this muscle-wasting condition was generated to gain a better knowledge of interactome profile of DMD. Materials & Methods Applying Cytoscape and String Database, the protein-protein interaction network was constructed ...

2013
Nathan M. Johnson Gist H. Farr Lisa Maves

Zebrafish are an excellent model for Duchenne muscular dystrophy. In particular, zebrafish provide a system for rapid, easy, and low-cost screening of small molecules that can ameliorate muscle damage in dystrophic larvae. Here we identify an optimal anti-sense morpholino cocktail that robustly knocks down zebrafish Dystrophin (dmd-MO). We use two approaches, muscle birefringence and muscle act...

Journal: :Arquivos de neuro-psiquiatria 2007
Marcus Vinicius Della Coletta Rosana Herminia Scola Gislaine Richter Minhoto Wiemes Cláudia Nasser Fonseca Maria Joana Mäder Aline Andrade Freund Lineu César Werneck

OBJECTIVE To examine auditory cognitive evoked potentials (P300 potentials) and neuropsychological dysfunction in patients with Duchenne muscular dystrophy (DMD). METHOD P300 potentials and neuropsychological test results were obtained from 16 healthy control boys and 20 DMD patients. Full Intelligence Quotients (IQ) were estimated for patients and control group. Mean age was 9.5 years in the...

Journal: :Journal of Biomedicine and Biotechnology 2009
Hanane Bellayou Khalil Hamzi Mohamed Abdou Rafai Mehdi Karkouri Ilham Slassi Houssine Azeddoug Sellama Nadifi

Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked recessive disorders caused by mutations of the DMD gene located at Xp21. In DMD patients, dystrophin is virtually absent; whereas BMD patients have 10% to 40% of the normal amount. Deletions in the dystrophin gene represent 65% of mutations in DMD/BMD patients. To explain the contribution of immunohistochemical a...

Journal: :Neurology India 2002
S Pradhan

Several patients of Duchenne muscular dystrophy (DMD) do not demonstrate clinically remarkable calf hypertrophy. A new clinical sign visible behind the shoulders, which may be called 'valley sign', was tested for its utility in such cases as clinical diagnosis becomes difficult in these patients. Out of 142 DMD patients seen in the last 7 years, 12 were found to have inconspicuous calves. All t...

2017
Nathan M. Johnson Gist H. Farr Lisa Maves

Zebrafish are an excellent model for Duchenne muscular dystrophy. In particular, zebrafish provide a system for rapid, easy, and low-cost screening of small molecules that can ameliorate muscle damage in dystrophic larvae. Here we identify an optimal anti-sense morpholino cocktail that robustly knocks down zebrafish Dystrophin (dmd-MO). We use two approaches, muscle birefringence and muscle act...

Journal: :Ophthalmology 2007
Roselie M H Diederen Ellen C La Heij Alfons G H Kessels Fleur Goezinne Albert T A Liem Fred Hendrikse

PURPOSE To determine the effect of duration of macular detachment (DMD) on visual acuity (VA) in patients with macula-off rhegmatogenous retinal detachment (RD). DESIGN Retrospective observational case series. PARTICIPANTS Two hundred two consecutive patients (202 eyes) with primary uncomplicated macula-off RD, preoperative VA of 10/100 or worse, a precise history of when macular function w...

2018
Görkem Güngör Melek Demir Gökhan Aydın Bülent Yapıcı Banu Atalar Enis Özyar

PURPOSE Stereotactic body radiotherapy (SBRT) is an established treatment technique in the management of medically inoperable early stage non-small cell lung cancer (NSCLC). Different techniques such as volumetric modulated arc (VMAT) and three-dimensional conformal arc (DCA) can be used in SBRT. Previously, it has been shown that VMAT is superior to DCA technique in terms of plan evaluation pa...

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