Results 171 to 180 of about 48,192 (208)
Dihydropyridine Receptor Congenital Myopathy In A Consangineous Turkish Family. [PDF]
J Neuromuscul Dis, 2019 Yiş U +9 more
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Neurologic Clinics, 1988
AbstractSeveral dozen congenital myopathies are defined by clinical and morphological criteria. The application of the current generation of scientific techniques including immunohistochemistry and molecular genetics has resulted in the expansion of our knowledge and understanding of the well‐established conditions including central core myopathy and ...
R C, Sengers, F J, Gabreëls, J M, Boon
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AbstractSeveral dozen congenital myopathies are defined by clinical and morphological criteria. The application of the current generation of scientific techniques including immunohistochemistry and molecular genetics has resulted in the expansion of our knowledge and understanding of the well‐established conditions including central core myopathy and ...
R C, Sengers, F J, Gabreëls, J M, Boon
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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.
Cordone G, Bado M, MINETTI, CARLO
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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.
Cordone G, Bado M, MINETTI, CARLO
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Current Opinion in Neurology, 2008
The present review aims to discuss the pathological and clinical heterogeneity of congenital myopathies, and the overlap between the different variants highlighted by recent studies.The spectrum of pathological changes associated with known gene defects has widened, and new genes responsible for rare structural defects have been identified.
Sewry, CA +2 more
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The present review aims to discuss the pathological and clinical heterogeneity of congenital myopathies, and the overlap between the different variants highlighted by recent studies.The spectrum of pathological changes associated with known gene defects has widened, and new genes responsible for rare structural defects have been identified.
Sewry, CA +2 more
openaire +5 more sources
Current Opinion in Neurology, 2007
The aim of this review is to provide an up-to-date personal analysis of current congenital myopathy research.In the past year novel congenital myopathies have been suggested, genes have been discovered for some of the congenital myopathies for the first time (beta-tropomyosin in cap disease and perhaps skeletal muscle alpha-actin in Zebra body myopathy)
Nigel G, Laing +2 more
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The aim of this review is to provide an up-to-date personal analysis of current congenital myopathy research.In the past year novel congenital myopathies have been suggested, genes have been discovered for some of the congenital myopathies for the first time (beta-tropomyosin in cap disease and perhaps skeletal muscle alpha-actin in Zebra body myopathy)
Nigel G, Laing +2 more
openaire +4 more sources
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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2013
Congenital myopathies are a heterogeneous group of inherited muscle disorders, characterized by the predominance of particular histopathological features on muscle biopsy, such as cores (central core disease) or rods (nemaline myopathy). Clinically, early onset of the disease, stable or slowly progressive muscle weakness, hypotonia and delayed motor ...
Norma Beatriz, Romero, Nigel F, Clarke
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Congenital myopathies are a heterogeneous group of inherited muscle disorders, characterized by the predominance of particular histopathological features on muscle biopsy, such as cores (central core disease) or rods (nemaline myopathy). Clinically, early onset of the disease, stable or slowly progressive muscle weakness, hypotonia and delayed motor ...
Norma Beatriz, Romero, Nigel F, Clarke
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Congenital myopathies/dystrophies
Neurologic Clinics, 2003The congenital myopathies and congenital muscular dystrophies are a group of relatively infrequent neuromuscular disorders. Ultimate understanding of these disorders, however, will undoubtedly shed considerable light on skeletal muscle development and function.
Jack E, Riggs +2 more
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