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2013
Charcot-Marie-Tooth (CMT) disease (also called hereditary motor and sensory neuropathy; HMSN) is a common disorder of children and adults, with autosomal-dominant, autosomal-recessive, and X-linked modes of inheritance. This chapter discusses the common CMT subtypes in detail, including CMT1A, CMTX, CMT1B, CMT2, and hereditary neuropathy with liability
Thomas, Florian P. +3 more
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Charcot-Marie-Tooth (CMT) disease (also called hereditary motor and sensory neuropathy; HMSN) is a common disorder of children and adults, with autosomal-dominant, autosomal-recessive, and X-linked modes of inheritance. This chapter discusses the common CMT subtypes in detail, including CMT1A, CMTX, CMT1B, CMT2, and hereditary neuropathy with liability
Thomas, Florian P. +3 more
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Archives of Neurology, 2001
I n 1886, Jean-Martin Charcot and Pierre Marie 1,2 and Henry Tooth independently described the hereditary motor and sensory neuropathy that now bears their names. Their precise clinical description provided the foundation on which later physiological and genetic understanding of hereditary neuropathies is based.
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I n 1886, Jean-Martin Charcot and Pierre Marie 1,2 and Henry Tooth independently described the hereditary motor and sensory neuropathy that now bears their names. Their precise clinical description provided the foundation on which later physiological and genetic understanding of hereditary neuropathies is based.
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2014
Charcot-Marie-Tooth (CMT) disease is the most common disorder in hereditary peripheral nerve neuropathy. Depending on the clinical manifestation, the disease is divided into demyelinating type (CMT1, with autosomal dominant inheritance, and CMT4, with autosomal recessive inheritance), axonal type (CMT2, including both autosomal dominant and autosomal ...
Mary M. Reilly, Alexander M. Rossor
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Charcot-Marie-Tooth (CMT) disease is the most common disorder in hereditary peripheral nerve neuropathy. Depending on the clinical manifestation, the disease is divided into demyelinating type (CMT1, with autosomal dominant inheritance, and CMT4, with autosomal recessive inheritance), axonal type (CMT2, including both autosomal dominant and autosomal ...
Mary M. Reilly, Alexander M. Rossor
+4 more sources
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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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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2017
Charcot-Marie-Tooth (CMT) disease is the most common hereditary motor and sensory neuropathic disorder. While several subtypes and inheritance patterns have been identified, the majority of cases demonstrate an autosomal dominant inheritance pattern. The pathophysiologic hallmarks of the disorder include its early and symmetric presentation involving ...
Matthew A. Varacallo +4 more
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Charcot-Marie-Tooth (CMT) disease is the most common hereditary motor and sensory neuropathic disorder. While several subtypes and inheritance patterns have been identified, the majority of cases demonstrate an autosomal dominant inheritance pattern. The pathophysiologic hallmarks of the disorder include its early and symmetric presentation involving ...
Matthew A. Varacallo +4 more
+4 more sources
Bolezen Charcot-Marie-Tooth: Charcot-Marie-Tooth disease:
2003Background. Charcot-Marie-Tooth (CMT) disease is a common inherited disorder of the peripheral nervous system. In our paper, different types of CMT are described with their typical clinical pictures, electrophysiological signs andmolecular genetic studies. CMT is classified as demyelinative and axonal type and distal motor neuronopathy.
Leonardis, Lea +2 more
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Journal of manipulative and physiological therapeutics, 1995
To discuss the similarities and differences in the clinical presentation of Charcot-Marie-Tooth Disease, an inherited peripheral neuropathy, and acquired lumbar spinal stenosis.Patients with lumbar spinal stenosis causing nerve root entrapment often have leg pain and weakness during such activities as walking or standing.
J, Martel, D, Mierau, J, Donat
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To discuss the similarities and differences in the clinical presentation of Charcot-Marie-Tooth Disease, an inherited peripheral neuropathy, and acquired lumbar spinal stenosis.Patients with lumbar spinal stenosis causing nerve root entrapment often have leg pain and weakness during such activities as walking or standing.
J, Martel, D, Mierau, J, Donat
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1996
The incidence of Charcot—Marie—Tooth disease is undetermined, but it is estimated that around 130 000 Europeans are affected. There are a number of variations of Charcot—Marie—Tooth disease in which deafness and kidney disease are more apparent, and these variations are thought probably to be more common than Charcot—Marie—Tooth without these aspects ...
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The incidence of Charcot—Marie—Tooth disease is undetermined, but it is estimated that around 130 000 Europeans are affected. There are a number of variations of Charcot—Marie—Tooth disease in which deafness and kidney disease are more apparent, and these variations are thought probably to be more common than Charcot—Marie—Tooth without these aspects ...
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