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Fine-tuning striated muscle performance: conserved sarcomere-level mechanisms across insect and vertebrate systems. [PDF]
Front PhysiolMatsui H +5 more
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Gastrointestinal Pseudo-Obstruction Is Not an Uncommon Phenotypic Manifestation of POLG1 Variants. [PDF]
Eur J NeurolFinsterer J.
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Glycogenin-1 deficiency: a case report and review of the literature. [PDF]
Front GenetMolitierno N +12 more
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Physical Medicine and Rehabilitation Clinics of North America, 2003
Electrodiagnostic studies are an important adjunct to the clinical examination of a patient with a suspected myopathy; however, the clinical examination is crucial in making an accurate diagnosis, because electrodiagnostic studies have only a limited role in delineating with certainty the underlying myopathic disorder.
Jayashri, Srinivasan, Anthony A, Amato
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Electrodiagnostic studies are an important adjunct to the clinical examination of a patient with a suspected myopathy; however, the clinical examination is crucial in making an accurate diagnosis, because electrodiagnostic studies have only a limited role in delineating with certainty the underlying myopathic disorder.
Jayashri, Srinivasan, Anthony A, Amato
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Continuum, 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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Current Opinion in Rheumatology, 1994
Major new advances in the genetic and biochemical characterization of mitochondrial myopathies are discussed, within a general presentation of this important new area of human pathology. Mitochondrial disorders can be due to mutations in either nuclear or mitochondrial genes involved in the synthesis of individual respiratory chain subunits or in their
Zeviani M., Amati P., SAVOIA, ANNA
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Major new advances in the genetic and biochemical characterization of mitochondrial myopathies are discussed, within a general presentation of this important new area of human pathology. Mitochondrial disorders can be due to mutations in either nuclear or mitochondrial genes involved in the synthesis of individual respiratory chain subunits or in their
Zeviani M., Amati P., SAVOIA, ANNA
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Current Rheumatology Reports, 2010
We consider recent developments in disorders affecting three areas of metabolism: glycogen, fatty acids, and the mitochondrial respiratory chain. Among the glycogenoses, new attention has been directed to defects of glycogen synthesis resulting in absence rather than excess of muscle glycogen ("aglycogenosis").
DiMauro S., Garone C., Naini A.
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We consider recent developments in disorders affecting three areas of metabolism: glycogen, fatty acids, and the mitochondrial respiratory chain. Among the glycogenoses, new attention has been directed to defects of glycogen synthesis resulting in absence rather than excess of muscle glycogen ("aglycogenosis").
DiMauro S., Garone C., Naini A.
openaire +2 more sources