Results 151 to 160 of about 230,082 (197)
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Journal of the Peripheral Nervous System, 2011
Charcot‐Marie‐Tooth (CMT) disease is the commonest inherited neuromuscular disorder affecting at least 1 in 2,500. Over the last two decades, there have been rapid advances in understanding the molecular basis for many forms of CMT with more than 30 causative genes now described.
Reilly, Mary M +2 more
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Charcot‐Marie‐Tooth (CMT) disease is the commonest inherited neuromuscular disorder affecting at least 1 in 2,500. Over the last two decades, there have been rapid advances in understanding the molecular basis for many forms of CMT with more than 30 causative genes now described.
Reilly, Mary M +2 more
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JAMA, 1964
Peroneal muscular atrophy (Charcot-Marie-Tooth disease) in nine children often demonstrated characteristic, if not diagnostic, clinical features. A positive family history was highly suggestive. Biopsy specimens from two patients were of no value. Electromyelographic studies were not characteristic, but motor nerve conduction velocity studies done on ...
C W, DAWSON, J B, ROBERTS
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Peroneal muscular atrophy (Charcot-Marie-Tooth disease) in nine children often demonstrated characteristic, if not diagnostic, clinical features. A positive family history was highly suggestive. Biopsy specimens from two patients were of no value. Electromyelographic studies were not characteristic, but motor nerve conduction velocity studies done on ...
C W, DAWSON, J B, ROBERTS
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Tooth mobility and periodontal Disease
Journal of Clinical Periodontology, 1997Abstract Tooth mobility (TM) is an important feature of periodontal disease. This is evidenced by the large number of devices and methods of TM assessment that have been developed and tested. TM had been considered and investigated as an indirect measure of the functional condition of the periodontium as well as possible aggravating co‐factor for ...
M, Giargia, J, Lindhe
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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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