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The Hand in Charcot-Marie-Tooth Disease
Journal of Hand Surgery, 1991The upper extremity was evaluated in 68 symptomatic individuals previously diagnosed as having Charcot-Marie-Tooth disease. Consistent patterns of motor and sensory involvement were found noted as well as a predictable progression of neuromuscular deficits. Improved understanding of the clinical behaviour of this disorder is necessary to develop better
M J, Miller +3 more
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'Tooth' sign in patellar degenerative disease
The Journal of Bone & Joint Surgery, 1977In the total examination of the knee, degenerative changes and ossification in the quadriceps tendon easily recognized on the lateral roentgenogram may cause confusion in diagnosis when seen on the axial view. Vertical ridging of the osteophytes at the patellar insertion of the quadriceps tendon can resemble dentate structure ("tooth" sign).
A, Greenspan, A, Norman, F K, Tchang
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The various Charcot–Marie–Tooth diseases
Current Opinion in Neurology, 2013This review focuses on recent advances in the diagnostic approaches and the underlying pathophysiological mechanisms of Charcot-Marie-Tooth (CMT) disease. We also discuss the emerging therapies for this hereditary neuropathy.To date, numerous genes are implicated in CMT, and new genes have recently been found to be associated with this neuropathy (INF2,
Jean-Michel, Vallat +2 more
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A “Saw-Tooth” Pattern in Parkinson's Disease
Chest, 1985A patient with severe Parkinson's disease had a maximum inspiratory and expiratory flow-volume loop showing a "saw-tooth" pattern. It is concluded that this sign is not specific for the sleep apnea syndrome.
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JAMA, 1974
IT HAS been suggested that the primary abnormality in muscular dystrophy lies not in the muscle but in the motor neuron on whose trophic factor the function and survival of muscle fibers depend. 1 This "neurogenic hypothesis" 2 might explain those confusing neuropathic electromyographic responses seen in some cases of myopathy, as well as perplexing ...
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IT HAS been suggested that the primary abnormality in muscular dystrophy lies not in the muscle but in the motor neuron on whose trophic factor the function and survival of muscle fibers depend. 1 This "neurogenic hypothesis" 2 might explain those confusing neuropathic electromyographic responses seen in some cases of myopathy, as well as perplexing ...
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Recent advances in Charcot–Marie–Tooth disease
Current Opinion in Neurology, 2014This article focuses on recent advances in Charcot-Marie-Tooth disease, in particular additions to the genetic spectrum, novel paradigms in molecular techniques and an update on therapeutic strategies.Several new Charcot-Marie-Tooth disease-causing genes have been recently identified, further enlarging the genetic diversity and phenotypic variability ...
Jonathan Baets +2 more
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SENSORY MANIFESTATIONS IN CHARCOT‐MARIE‐TOOTH DISEASE
Journal of the Peripheral Nervous System, 2000Although positive sensory symptoms are classically considered a hallmark of acquired neuropathies, sensory manifestations, in particular, pain, are not uncommon in Charcot‐Marie‐Tooth disease (CMT).We investigated the occurrence of sensory manifestations in 35 CMT patients (15 with CMT1, 20 with CMT2).Positive sensory manifestations were reported by 18
GEMIGNANI, Franco +4 more
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Is Erosive Tooth Wear an Oral Disease?
2014Erosive tissue loss is part of the physiological wear of teeth. Clinical features are an initial loss of tooth shine or luster followed by flattening of convex structures; with continuing acid exposure, concavities form on smooth surfaces, or grooving and cupping occur on incisal/occlusal surfaces.
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Charcot-Marie-Tooth disease: an update
Current Opinion in Neurology, 2004The purpose of this review is to assist neurologists, neuroscientists and other interested readers in following the expanding volume of information relating to the inherited peripheral neuropathies collectively referred to as Charcot-Marie-Tooth disease.
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Charcot‐Marie‐Tooth Disease Type 2
Annals of the New York Academy of Sciences, 1999ABSTRACT: No unique genes have yet been found for CMT2, but both Cx32 and P0 appear to contribute to the phenotype. Not surprisingly, CMT2 is likely to display much more genetic heterogeneity than CMT1. However, it is also likely continue to challenge previous concepts on classification and relationship of traditional inherited phenotypes in neurology.
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