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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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Axonal Charcot–Marie–Tooth disease
Current Opinion in Neurology, 2011The aim is to specify the genetic causes of dominantly and recessively inherited axonal forms of Charcot-Marie-Tooth disease (CMT) and review the biological basis for these disorders.More than 10 genes that cause axonal CMT have been identified over the past decade. Many of these genes express proteins that are ubiquitously expressed.
Michael E, Shy, Agnes, Patzkó
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Pediatric Charcot-Marie-Tooth Disease
Pediatric Clinics of North America, 2015Heritable diseases of the peripheral nerves (Charcot-Marie-Tooth disease [CMT]) affect the motor units and sensory nerves, and they are among the most prevalent genetic conditions in the pediatric patient population. The typical clinical presentation includes distal muscle weakness and atrophy, but the severity and progression are largely variable ...
Agnes, Jani-Acsadi +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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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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Archives of Neurology, 1963
Charcot-Marie-Tooth disease (CMTD), or peroneal muscular atrophy (PMA), is an uncommon inherited affection of peripheral nerve and probably root, spinal cord, and muscle of young people. Many aspects of the pathology, etiology, and genetics are unresolved and demand a review of previous findings as well as new approaches in future investigations.
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Charcot-Marie-Tooth disease (CMTD), or peroneal muscular atrophy (PMA), is an uncommon inherited affection of peripheral nerve and probably root, spinal cord, and muscle of young people. Many aspects of the pathology, etiology, and genetics are unresolved and demand a review of previous findings as well as new approaches in future investigations.
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2023
Abstract Charcot-Marie-Tooth (CMT) disease is the most common inherited neuromuscular disease and presents many potential considerations for the administration of anesthesia. Type 1 CMT (CMT1) is the most common, of which 70% of cases are CMT1A.
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Abstract Charcot-Marie-Tooth (CMT) disease is the most common inherited neuromuscular disease and presents many potential considerations for the administration of anesthesia. Type 1 CMT (CMT1) is the most common, of which 70% of cases are CMT1A.
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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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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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