نتایج جستجو برای: muscular diseases

تعداد نتایج: 885536  

Journal: :Proceedings of The Japanese Association of Animal Models for Human Diseases 1990

Journal: :JAMA: The Journal of the American Medical Association 1901

Journal: :genetics in the 3rd millennium 0
bita bozorgmehr mehdi vahid dastjerdi ariana kariminejad

facioscapulohumeral muscular dystrophy (fshd)is characterized by weakness of the facial, scapular muscles  and the dorsiflexors of the foot. severity in this disorder is highly variable. approximately 95% of individuals with fshd phenotype have type 1 fshd, with d4z4 allele of between one and ten repeat units and about 5% have type 2 fshd with mutations in the chromatin modifier smchd1gene whic...

2012
Oscar Martínez Amaia Jometón Esther Lázaro Imanol Amayra Juan Francisco López-Paz Manuel Pérez Patricia Caballero Luís De Nicolás Alberto Lasa Jorge Roldán Natalia Martín Joseba Bárcena Luís Varona

Background: Neuromuscular diseases are a group of pathologies characterized by the progressive loss of muscular strength, atrophy or hypertrophy, fatigue, muscle pain and degeneration of the muscles and the nerves controlling them (The French Muscular Dystrophy Association, 2004). Perceived isolation and health related quality of life are affected in the majority of cases due to the illness chr...

A Jafarzadeh , A Rahimdel , AR Sayadi , R Vazirinejad , SM Yassini ,

Background: Multiple sclerosis (MS) is one of the most common chronic diseases of the central nervous system. The aim of this study was to determine the effectiveness of psychological training combined‎ with gradual muscular stress relaxation technique on QOL of patients with MS. Materials and Methods: This triple-blind, controlled, clinical trial was conducted on 60 patients with MS who...

Journal: :Journal of medical genetics 1986
D J Shaw

Recent advances in agarose gel electrophoresis of large DNA fragments raise the possibility of an entirely new approach to mapping mammalian genomes. In this article is discussed the potential of this technology for tackling problems such as construction of linkage maps, identifying chromosome translocation breakpoints, and moving from linked markers to genes causing diseases such as the muscul...

2015
Boglarka Bansagi Helen Griffin Venkateswaran Ramesh Jennifer Duff Angela Pyle Patrick F. Chinnery Rita Horvath

1 The John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK 2 Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK 3 Department of Paediatric Neurology, Royal Victoria Infirmary, Newcastle upon Tyne Foundation Hos...

Journal: :Journal of visualized experiments : JoVE 2013
Laura L Smith Alan H Beggs Vandana A Gupta

Zebrafish (Danio rerio) have become a particularly effective tool for modeling human diseases affecting skeletal muscle, including muscular dystrophies, congenital myopathies, and disruptions in sarcomeric assembly, due to high genomic and structural conservation with mammals. Muscular disorganization and locomotive impairment can be quickly assessed in the zebrafish over the first few days pos...

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