Results 261 to 270 of about 1,243,090 (307)
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Revue Neurologique, 2013
Distal myopathies are a heterogeneous group of genetic disorders characterized clinically by progressive muscular weakness and atrophy beginning in the hands or feet, and pathologically by myopathic changes in skeletal muscles. Five distinct distal myopathies are identified, among them four have been recently defined by their gene and causative ...
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Distal myopathies are a heterogeneous group of genetic disorders characterized clinically by progressive muscular weakness and atrophy beginning in the hands or feet, and pathologically by myopathic changes in skeletal muscles. Five distinct distal myopathies are identified, among them four have been recently defined by their gene and causative ...
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Current Opinion in Neurology, 2005
The distal myopathies are a heterogeneous group of disorders that pose a challenge to both the clinician and geneticist. This article summarizes the findings of recent clinical, genetic and molecular studies and the current diagnostic approach to this group of patients.Publications over the past 5 years describe a number of new clinical phenotypes and ...
Mastaglia, F.L. +2 more
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The distal myopathies are a heterogeneous group of disorders that pose a challenge to both the clinician and geneticist. This article summarizes the findings of recent clinical, genetic and molecular studies and the current diagnostic approach to this group of patients.Publications over the past 5 years describe a number of new clinical phenotypes and ...
Mastaglia, F.L. +2 more
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Clinical Genetics, 1980
Hyperostosis of the bones of the forearms and lower legs and mild cranial sclerosis were present in five persons in two generations of a South African kindred of mixed ancestry. This disorder, which is clinically innocuous, is inherited as an autosomal dominant trait.
P, Beighton, M, Macrae, K, Kozlowski
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Hyperostosis of the bones of the forearms and lower legs and mild cranial sclerosis were present in five persons in two generations of a South African kindred of mixed ancestry. This disorder, which is clinically innocuous, is inherited as an autosomal dominant trait.
P, Beighton, M, Macrae, K, Kozlowski
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Journal of the American Academy of Dermatology, 1998
An 80-year-old white woman had a 6-year history of enlarging, intradermal plaques on the distal, volar, and lateral surfaces of the fingers. A biopsy specimen showed whorled, densely aggregated bundles of coarsely thickened collagen within a sparsely cellular papillary and reticular dermis.
S D, Tompkins, N S, McNutt, C R, Shea
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An 80-year-old white woman had a 6-year history of enlarging, intradermal plaques on the distal, volar, and lateral surfaces of the fingers. A biopsy specimen showed whorled, densely aggregated bundles of coarsely thickened collagen within a sparsely cellular papillary and reticular dermis.
S D, Tompkins, N S, McNutt, C R, Shea
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Digital Replantations Distal to the Distal Interphalangeal Joint
Journal of Reconstructive Microsurgery, 1987Microvascular replantations of digits distal to the distal interphalangeal (DIP) joint were reviewed in 33 digits of 29 patients. Twenty-five digits were completely amputated and eight were incompletely amputated. Ten of 33 replants failed and 23 digits survived. Even without venous reconstruction, good results were obtained in Zone I.
K, Suzuki, M, Matsuda
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Social Science & Medicine, 2003
This paper considers the spatial dynamics of nurse-patient relationships within hospitals, primarily in the USA, under conditions of organizational restructuring, and situates them within social theoretical perspectives on space. As a human practice to which relationship is considered essential, nursing depends upon sustaining an often taken-for ...
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This paper considers the spatial dynamics of nurse-patient relationships within hospitals, primarily in the USA, under conditions of organizational restructuring, and situates them within social theoretical perspectives on space. As a human practice to which relationship is considered essential, nursing depends upon sustaining an often taken-for ...
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Clinical Orthopaedics and Related Research, 1979
A recent survey of congenital hand anomalies has revealed that symphalangism of the distal interphalangeal joint is more frequent than had previously been reported. To date, however, only 3 familial pedigrees have been documented in the literature. The family reported in this article had 9 individuals spanning 4 generations affected with symphalangism ...
A A, Halpern +2 more
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A recent survey of congenital hand anomalies has revealed that symphalangism of the distal interphalangeal joint is more frequent than had previously been reported. To date, however, only 3 familial pedigrees have been documented in the literature. The family reported in this article had 9 individuals spanning 4 generations affected with symphalangism ...
A A, Halpern +2 more
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Dysphagia, 2012
Distal esophageal spasm (DES) is an uncommon esophageal motility disorder associated with dysphagia and/or chest pain. Its pathophysiology implies an impairment of esophageal inhibitory neural function. Using conventional manometry, DES was defined by the presence of simultaneous esophageal contractions.
Sabine, Roman, Peter J, Kahrilas
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Distal esophageal spasm (DES) is an uncommon esophageal motility disorder associated with dysphagia and/or chest pain. Its pathophysiology implies an impairment of esophageal inhibitory neural function. Using conventional manometry, DES was defined by the presence of simultaneous esophageal contractions.
Sabine, Roman, Peter J, Kahrilas
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Journal of Neurology, 2000
Distal myopathies are classified according to clinical, histopathological, and genetic patterns into the following: late adult onset type 1, or Welander myopathy, the first recognized distal myopathy with autosomal dominant inheritance and very recently linked to chromosome 2p; late adult onset type 2, or Markesbery-Griggs/Udd myopathy, autosomal ...
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Distal myopathies are classified according to clinical, histopathological, and genetic patterns into the following: late adult onset type 1, or Welander myopathy, the first recognized distal myopathy with autosomal dominant inheritance and very recently linked to chromosome 2p; late adult onset type 2, or Markesbery-Griggs/Udd myopathy, autosomal ...
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Fractures of the Distal Phalanges
Journal of Hand Surgery, 1988A prospective study of 110 patients with fractures of the distal phalanx indicates that less than one in three patients with such injuries will have recovered after six months. Less than one half of distal phalangeal fractures will have united by then.
D J, DaCruz, R J, Slade, W, Malone
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