Results 291 to 300 of about 1,822,931 (347)
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Seminars in Neurology, 1999
Although muscle disease classically presents with proximal extremity weakness, some myopathic disorders, including several types of muscular dystrophy, result in predominantly, or exclusively, distal muscle involvement. Accurate diagnosis of these relatively uncommon conditions can be challenging for the clinician, because of both the unusual phenotype
R J, Barohn, A A, Amato
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Although muscle disease classically presents with proximal extremity weakness, some myopathic disorders, including several types of muscular dystrophy, result in predominantly, or exclusively, distal muscle involvement. Accurate diagnosis of these relatively uncommon conditions can be challenging for the clinician, because of both the unusual phenotype
R J, Barohn, A A, Amato
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Surgical Clinics of North America, 2014
Cholangiocarcinoma involving the distal common bile duct (distal cholangiocarcinoma [DCC]) is a periampullary neoplasm that is less common than, but often difficult to distinguish from, pancreatic adenocarcinoma (PDA). The prognosis and cure rate of DCC is improved over that of PDA, but it remains a highly lethal disease.
Paxton V, Dickson, Stephen W, Behrman
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Cholangiocarcinoma involving the distal common bile duct (distal cholangiocarcinoma [DCC]) is a periampullary neoplasm that is less common than, but often difficult to distinguish from, pancreatic adenocarcinoma (PDA). The prognosis and cure rate of DCC is improved over that of PDA, but it remains a highly lethal disease.
Paxton V, Dickson, Stephen W, Behrman
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2023
Distal myopathies are a group of genetic, primary muscle diseases. Patients develop progressive weakness and atrophy of the muscles of forearm, hands, lower leg, or feet. Currently, over 20 different forms, presenting a variable age of onset, clinical presentation, disease progression, muscle involvement, and histological findings, are known.
Jokela Manu +8 more
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Distal myopathies are a group of genetic, primary muscle diseases. Patients develop progressive weakness and atrophy of the muscles of forearm, hands, lower leg, or feet. Currently, over 20 different forms, presenting a variable age of onset, clinical presentation, disease progression, muscle involvement, and histological findings, are known.
Jokela Manu +8 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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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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Current Opinion in Neurology, 2001
Distal myopathies are frequently encountered in the Nordic countries, and are now being increasingly recognized elsewhere. Three new descriptions of distal myopathy phenotypes have been published in the past year. At the same time there has been considerable progress in molecular genetics and in understanding the molecular pathophysiology underlying ...
B, Udd, R, Griggs
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Distal myopathies are frequently encountered in the Nordic countries, and are now being increasingly recognized elsewhere. Three new descriptions of distal myopathy phenotypes have been published in the past year. At the same time there has been considerable progress in molecular genetics and in understanding the molecular pathophysiology underlying ...
B, Udd, R, Griggs
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Neurologic Clinics, 2020
The distal myopathies are a rare and heterogeneous group of neuromuscular disorders. Patients present with weakness of the hands, distal lower extremities, or both. Age of onset varies from early childhood to late adulthood. Most of the disorders causing distal myopathic weakness are genetically based.
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The distal myopathies are a rare and heterogeneous group of neuromuscular disorders. Patients present with weakness of the hands, distal lower extremities, or both. Age of onset varies from early childhood to late adulthood. Most of the disorders causing distal myopathic weakness are genetically based.
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Urologic Clinics of North America, 1995
Distal hypospadias, where the urethral meatus is located subcoronal or more distal, is one of the most common congenital anomalies in males. The embryology and etiology of hypospadias, timing of repair, surgical techniques, anesthesia for and complications of hypospadias repair are reviewed.
J A, Stock, H C, Scherz, G W, Kaplan
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Distal hypospadias, where the urethral meatus is located subcoronal or more distal, is one of the most common congenital anomalies in males. The embryology and etiology of hypospadias, timing of repair, surgical techniques, anesthesia for and complications of hypospadias repair are reviewed.
J A, Stock, H C, Scherz, G W, Kaplan
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