نتایج جستجو برای: neuromuscular disorders

تعداد نتایج: 689491  

Journal: :Journal of Neuropathology & Experimental Neurology 2005

Journal: :American Journal of Medical Genetics Part A 2017

Journal: :European Journal of Echocardiography 2023

Abstract Funding Acknowledgements Type of funding sources: None. Background Neuromuscular disorders (NMD) have a wide range different cardiac presentations. Cardiac magnetic resonance (CMR) has an established role in diagnosis and risk stratification. We sought to access how CMR performs predicting events real cohort NMD patients (pts). Methods included consecutive pts followed tertiary clinica...

Journal: :Folia histochemica et cytobiologica 2009
Orlando Paciello Serenella Papparella

The broad category of neuromuscular diseases covers conditions that involve the weakness or wasting of the body muscles. These problems may occur in the spinal cord, the peripheral nerves or the muscle fibers. Some may be hereditary, while others are acquired. Commonly recognized conditions fall into the categories of myopathies, which are diseases of the muscle like muscular dystrophy, disorde...

2004
Biljana Ilkovski Kristen J. Nowak Ana Domazetovska Adam L. Maxwell Sophie Clement Kay E. Davies Nigel G. Laing Kathryn N. North Sandra T. Cooper

The Institute for Neuromuscular Research, The Children’s Hospital at Westmead, Discipline of Paediatrics and Child Health, Faculty of Medicine, University of Sydney, Australia, Centre for Neuromuscular and Neurological Disorders, University of Western Australia (UWA); Australian Neuromuscular Research Institute and Centre for Medical Research, UWA; West Australian Institute for Medical Research...

Journal: :European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2011
Nina Barišić Amina Chaouch Juliane S Müller Hanns Lochmüller

Congenital myasthenic syndromes (CMS) are a rare heterogeneous group of inherited neuromuscular disorders associated with distinctive clinical, electrophysiological, ultrastructural and genetic abnormalities. These genetic defects either impair neuromuscular transmission directly or result in secondary impairments, which eventually compromise the safety margin of neuromuscular transmission. In ...

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