Results 301 to 310 of about 306,770 (339)
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Corneal dystrophies. II. Endothelial dystrophies
Survey of Ophthalmology, 1978In general, endothelial dystrophies present three types of clinical manifestations: 1) production of collagenous tissue posterior to Descemet's membrane which appears as cornea guttata, polymorphic excrescences or gray sheets; 2) a disrupted endothelial mosaic in specular reflection; and 3) corneal edema as a reflection of decreased endothelial barrier
G O, Waring +2 more
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Current Opinion in Neurology, 2002
Muscular dystrophy includes many genetically distinct disorders. The list of causative genes for muscular dystrophy has been expanding rapidly, including those for congenital muscular dystrophies.We review the newly identified causative genes and suggested molecular mechanisms, focusing on glycosylation abnormality of alpha-dystroglycan, collagen VI ...
Ichizo, Nishino, Eijiro, Ozawa
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Muscular dystrophy includes many genetically distinct disorders. The list of causative genes for muscular dystrophy has been expanding rapidly, including those for congenital muscular dystrophies.We review the newly identified causative genes and suggested molecular mechanisms, focusing on glycosylation abnormality of alpha-dystroglycan, collagen VI ...
Ichizo, Nishino, Eijiro, Ozawa
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Current Neurology and Neuroscience Reports, 2016
Facioscapulohumeral muscular dystrophy (FSHD) is a clinically recognizable and relatively common muscular dystrophy. It is inherited mostly as an autosomal dominant disease or in a minority of cases, in a digenic pattern. The disease manifestation is variable and most likely dependent on genetic and epigenetic factors.
Leo H, Wang, Rabi, Tawil
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Facioscapulohumeral muscular dystrophy (FSHD) is a clinically recognizable and relatively common muscular dystrophy. It is inherited mostly as an autosomal dominant disease or in a minority of cases, in a digenic pattern. The disease manifestation is variable and most likely dependent on genetic and epigenetic factors.
Leo H, Wang, Rabi, Tawil
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Clinics in Chest Medicine, 2018
Muscular dystrophies represent a complex, varied, and important subset of neuromuscular disorders likely to require the care of a pulmonologist. The spectrum of conditions encapsulated by this subset ranges from severe and fatal congenital muscular dystrophies with onset in infancy to mild forms of limb and girdle weakness with onset in adulthood and ...
John C, Carter +3 more
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Muscular dystrophies represent a complex, varied, and important subset of neuromuscular disorders likely to require the care of a pulmonologist. The spectrum of conditions encapsulated by this subset ranges from severe and fatal congenital muscular dystrophies with onset in infancy to mild forms of limb and girdle weakness with onset in adulthood and ...
John C, Carter +3 more
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2013
The Neuroaxonal Dystrophies (NADs) are a group of clinically and genetically heterogeneous neurodegenerative conditions. These disorders show the unique pathological feature of neuroaxonal dystrophy (NAD): axonal swelling (spheroids) localized throughout the central nervous and peripheral nervous systems.
Nardo, Nardocci, Giovanna, Zorzi
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The Neuroaxonal Dystrophies (NADs) are a group of clinically and genetically heterogeneous neurodegenerative conditions. These disorders show the unique pathological feature of neuroaxonal dystrophy (NAD): axonal swelling (spheroids) localized throughout the central nervous and peripheral nervous systems.
Nardo, Nardocci, Giovanna, Zorzi
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Journal Français d'Ophtalmologie, 2017
Degenerative or hereditary corneal diseases are sometimes difficult to discriminate. Corneal dystrophies affect approximately 0.09 % of the population. They are identified by the IC3D classification based on their phenotype, genotype and evidence gathered for their diagnosis.
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Degenerative or hereditary corneal diseases are sometimes difficult to discriminate. Corneal dystrophies affect approximately 0.09 % of the population. They are identified by the IC3D classification based on their phenotype, genotype and evidence gathered for their diagnosis.
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Pediatrics In Review, 2000
Muscular dystrophy is a group of genetically determined muscular disorders marked by progressive wasting and weakness of the skeletal muscle, but which often affect cardiac and smooth muscles or other tissues. The patterns of inheritance are either dominant or recessive although the gene may be defective because of a new mutation.
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Muscular dystrophy is a group of genetically determined muscular disorders marked by progressive wasting and weakness of the skeletal muscle, but which often affect cardiac and smooth muscles or other tissues. The patterns of inheritance are either dominant or recessive although the gene may be defective because of a new mutation.
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Vestnik oftal'mologii, 2018
The article reviews modern clinical, morphological, and genetic aspects of corneal dystrophies based on the most recent international classification updated in 2015. Corneal dystrophies is a group of slow progressing, non-inflammatory corneal pathologies, most of which are characterized by variability of the associated traits.
S V, Trufanov +4 more
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The article reviews modern clinical, morphological, and genetic aspects of corneal dystrophies based on the most recent international classification updated in 2015. Corneal dystrophies is a group of slow progressing, non-inflammatory corneal pathologies, most of which are characterized by variability of the associated traits.
S V, Trufanov +4 more
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Cornea, 1988
Fuchs' dystrophy is an inherited disorder of unknown etiology in which the corneal endothelial cells develop morphologic and functional abnormalities. Clinically, the disease progresses slowly over a period of 20 or more years from asymptomatic cornea guttata to corneal edema with decreased vision and pain.
S E, Wilson, W M, Bourne
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Fuchs' dystrophy is an inherited disorder of unknown etiology in which the corneal endothelial cells develop morphologic and functional abnormalities. Clinically, the disease progresses slowly over a period of 20 or more years from asymptomatic cornea guttata to corneal edema with decreased vision and pain.
S E, Wilson, W M, Bourne
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