نتایج جستجو برای: duchenne

تعداد نتایج: 8037  

Journal: :Journal of medical genetics 1974
R Skinner C Smith A E Emery

et. al, 1968/1969) and give an estimate of 0-23 for the recombination fraction with 9500 confidence limits of 0-13 to 0 43. These results confirm the linkage relationships between deutan colour blindness and Becker muscular dystrophy but since the loci for Duchenne muscular dystrophy and colour blindness are not within measurable distance of each other these results indicate that the Becker and...

2003

This report has been written for families who have one or more boys with Duchenne muscular dystrophy. It explains some basic scientific facts and shows the now numerous approaches with which research is trying to find a scientifically justified and thus effective therapy of Duchenne muscular dystrophy. Because scientists in more than one hundred laboratories in many countries of the world are w...

Journal: :Circulation 1968
C Slucka

Interpretation of the electrocardiogram in the Duchenne form of progressive muscular dystrophy (PMD) is still debated in the literature. The group studied consisted of 106 patients with the Duchenne type of PMD, aged 3 to 29 years. The duration of the disease varied from a few months to 15 years. One hundred one patients had abnormal electrocardiograms. These were of four types: type a (64 case...

Journal: :JACC. Cardiovascular imaging 2013
Kenya Kusunose Hirotsugu Yamada Susumu Nishio Rina Tamai Toshiyuki Niki Koji Yamaguchi Yoshio Taketani Takashi Iwase Takeshi Soeki Tetsuzo Wakatsuki Masataka Sata

1. Emery A. Duchenne muscular dystrophy or Meryon’s disease. Lancet 2001;357:1529. 2. Mavrogeni S, Spargias C, Bratis C, et al. Myocarditis as a precipitating factor for heart failure: evaluation and 1-year follow-up using cardiovascular magnetic resonance and endomyocardial biopsy. Eur J Heart Fail 2011;13:830–7. 3. Bobo JK, Kenneson A, Kolor K, Brown MA. Adherence to American Academy of Pedia...

2005

Duchenne muscular dystrophy is the most common and severe form of the childhood muscular dystrophies. The disease is typically diagnosed between 3 and 7 years of age and follows a predictable clinical course marked by progressive skeletal muscle weakness with loss of ambulation by 12 years of age. Death occurs in early adulthood secondary to respiratory or cardiac failure. Becker muscular dystr...

2016
Keryn G. Woodman Chantal A. Coles Shireen R. Lamandé Jason D. White

In recent years, complementary and alternative medicine has become increasingly popular. This trend has not escaped the Duchenne Muscular Dystrophy community with one study showing that 80% of caregivers have provided their Duchenne patients with complementary and alternative medicine in conjunction with their traditional treatments. These statistics are concerning given that many supplements a...

Journal: :Biological & pharmaceutical bulletin 2003
Hitoshi Sawada Kazumi Nagahiro Yuhsuke Kikukawa Susumu Ban Reina Kakefuda Tetsuo Shiomi Hideyoshi Yokosawa

Duchenne muscular dystrophy is known to be caused by a defective gene of dystrophin, a 427-kDa cytoskeletal protein, but the effective therapeutic drug is presently unavailable. We previously reported that a trypsin-like protease designated as dystrypsin is markedly activated in the muscle microsomal fraction immediately before onset of the clinical signs in mdx mice, a dystrophin-deficient her...

Journal: :Neuromuscular Disorders 2014
Marika Pane Elena S. Mazzone Lavinia Fanelli Roberto De Sanctis Flaviana Bianco Serena Sivo Adele D’Amico Sonia Messina Roberta Battini Marianna Scutifero Roberta Petillo Silvia Frosini Roberta Scalise Gianluca Vita Claudio Bruno Marina Pedemonte Tiziana Mongini Elena Pegoraro Francesca Brustia Alice Gardani Angela Berardinelli Valentina Lanzillotta Emanuela Viggiano Filippo Cavallaro Maria Sframeli Luca Bello Andrea Barp Serena Bonfiglio Enrica Rolle Giulia Colia Michela Catteruccia Concetta Palermo Grazia D’Angelo Antonella Pini Elena Iotti Ksenija Gorni Giovanni Baranello Lucia Morandi Enrico Bertini Luisa Politano MariaPia Sormani Eugenio Mercuri

The Performance of Upper Limb was specifically designed to assess upper limb function in Duchenne muscular dystrophy. The aim of this study was to assess (1) a cohort of typically developing children from the age of 3years onwards in order to identify the age when the activities assessed in the individual items are consistently achieved, and (2) a cohort of 322 Duchenne children and young adult...

2015
Simon Guiraud Huijia Chen David T. Burns Kay E. Davies

NEW FINDINGS What is the topic of this review? This review highlights recent progress in genetically based therapies targeting the primary defect of Duchenne muscular dystrophy. What advances does it highlight? Over the last two decades, considerable progress has been made in understanding the mechanisms underlying Duchenne muscular dystrophy, leading to the development of genetic therapies. Th...

Journal: :Circulation research 2014
Kinya Seo Peter P Rainer Dong-Ik Lee Scarlett Hao Djahida Bedja Lutz Birnbaumer Oscar H Cingolani David A Kass

RATIONALE The heart is exquisitely sensitive to mechanical stimuli to adapt rapidly to physiological demands. In muscle lacking dystrophin, such as Duchenne muscular dystrophy, increased load during contraction triggers pathological responses thought to worsen the disease. The relevant mechanotransducers and therapies to target them remain unclear. OBJECTIVES We tested the role of transient r...

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