Results 311 to 320 of about 146,584 (332)
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Current Neurology and Neuroscience Reports, 2004
The congenital myopathies encompass a group of neuromuscular disorders with characteristic morphologic abnormalities in skeletal muscle, including nemaline myopathy, central core disease, multi-minicore disease, and myotubular myopathy. Giant steps have been made in our understanding of the molecular bases of these disorders, all of which show ...
BRUNO C, MINETTI, CARLO
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The congenital myopathies encompass a group of neuromuscular disorders with characteristic morphologic abnormalities in skeletal muscle, including nemaline myopathy, central core disease, multi-minicore disease, and myotubular myopathy. Giant steps have been made in our understanding of the molecular bases of these disorders, all of which show ...
BRUNO C, MINETTI, CARLO
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Medical Clinics of North America, 2003
Extraordinary progress has been made in the recognition, understanding, and treatment of myopathy in the past several decades, aided by the application of molecular genetics, electrophysiology, muscle biopsy, and innovative therapies. The symptoms of muscle disease may vary among individual patients with acquired muscle disorders, as well as family ...
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Extraordinary progress has been made in the recognition, understanding, and treatment of myopathy in the past several decades, aided by the application of molecular genetics, electrophysiology, muscle biopsy, and innovative therapies. The symptoms of muscle disease may vary among individual patients with acquired muscle disorders, as well as family ...
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CONTINUUM: Lifelong Learning in Neurology, 2006
To discuss the clinical, laboratory, and histopathologic features and presumed pathogenic mechanisms of the four major categories of idiopathic inflammatory myopathy, namely dermatomyositis, polymyositis, immune-mediated necrotizing myopathy, and inclusion body myositis.Dermatomyositis, polymyositis, necrotizing myopathy, and inclusion body myositis ...
Anthony A, Amato, Steven A, Greenberg
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To discuss the clinical, laboratory, and histopathologic features and presumed pathogenic mechanisms of the four major categories of idiopathic inflammatory myopathy, namely dermatomyositis, polymyositis, immune-mediated necrotizing myopathy, and inclusion body myositis.Dermatomyositis, polymyositis, necrotizing myopathy, and inclusion body myositis ...
Anthony A, Amato, Steven A, Greenberg
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Radiologic Clinics of North America, 2017
This article clarifies the current role of MR imaging in the assessment of myopathies. Typical MR imaging findings are discussed for different forms of myopathies, including idiopathic inflammatory myopathies, muscular dystrophies, and congenital myopathies.
Filli, Lukas +3 more
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This article clarifies the current role of MR imaging in the assessment of myopathies. Typical MR imaging findings are discussed for different forms of myopathies, including idiopathic inflammatory myopathies, muscular dystrophies, and congenital myopathies.
Filli, Lukas +3 more
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Seminars in Pediatric Neurology, 1991
About forty different congenital myopathies (CM) are defined by clinical and morphological criteria. Classical types like central core disease, centronuclear myopathy, and nemaline/rod myopathy are now well established and recognized as neuromuscular conditions.
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About forty different congenital myopathies (CM) are defined by clinical and morphological criteria. Classical types like central core disease, centronuclear myopathy, and nemaline/rod myopathy are now well established and recognized as neuromuscular conditions.
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Current Neurology and Neuroscience Reports, 2007
Advanced molecular genetic possibilities have made it possible to clarify and delineate an ever growing number of distinct new disease entities in the group of distal myopathies. These diseases share the clinical features of preferential muscle weakness in the feet and/or hands, and as they are genetic disorders that lead to progressive loss of muscle ...
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Advanced molecular genetic possibilities have made it possible to clarify and delineate an ever growing number of distinct new disease entities in the group of distal myopathies. These diseases share the clinical features of preferential muscle weakness in the feet and/or hands, and as they are genetic disorders that lead to progressive loss of muscle ...
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Klinische Wochenschrift, 1982
A case of minicore diseases (MCD) detected in a 10-year-old boy was reported and the nosological entity of this "myopathy" discussed. Its pathogenesis was unknown. Similar findings have been reported in many different conditions of human and experimental pathology.
Gullotta F +3 more
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A case of minicore diseases (MCD) detected in a 10-year-old boy was reported and the nosological entity of this "myopathy" discussed. Its pathogenesis was unknown. Similar findings have been reported in many different conditions of human and experimental pathology.
Gullotta F +3 more
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Acta Physiologica Scandinavica, 2001
The first description of a patient with mitochondrial myopathy and deficient respiratory chain function was reported by Luft and coworkers almost 40 years ago. Subsequent studies in the 1970s and 1980s relied on a combination of morphological and biochemical methods to identify patients with mitochondrial disorders.
A. Oldfors, N.-G. Larsson
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The first description of a patient with mitochondrial myopathy and deficient respiratory chain function was reported by Luft and coworkers almost 40 years ago. Subsequent studies in the 1970s and 1980s relied on a combination of morphological and biochemical methods to identify patients with mitochondrial disorders.
A. Oldfors, N.-G. Larsson
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Seminars in Pediatric Neurology, 1996
Disorders of glycogen, lipid or mitochondrial metabolism may cause two main clinical syndromes, namely (1) progressive weakness (eg, acid maltase, debrancher enzyme, and brancher enzyme deficiencies among the glycogenoses; long- and very-long-chain acyl-CoA dehydrogenase (LCAD, VLCAD), and trifunctional enzyme deficiencies among the fatty acid ...
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Disorders of glycogen, lipid or mitochondrial metabolism may cause two main clinical syndromes, namely (1) progressive weakness (eg, acid maltase, debrancher enzyme, and brancher enzyme deficiencies among the glycogenoses; long- and very-long-chain acyl-CoA dehydrogenase (LCAD, VLCAD), and trifunctional enzyme deficiencies among the fatty acid ...
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Best Practice & Research Clinical Rheumatology, 1995
New information regarding myositis specific autoantibodies, histopathologic analysis of muscle biopsy specimens, and immunogenetic features of the different serologic subsets of disease has greatly increased our understanding of the pathogenesis of the inflammatory myopathies.
C V, Oddis, T A, Medsger
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New information regarding myositis specific autoantibodies, histopathologic analysis of muscle biopsy specimens, and immunogenetic features of the different serologic subsets of disease has greatly increased our understanding of the pathogenesis of the inflammatory myopathies.
C V, Oddis, T A, Medsger
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