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Charcot-Marie-Tooth disease [PDF]
Current Treatment Options in Neurology, 2008 The family of hereditary peripheral neuropathies that makes up Charcot-Marie-Tooth disease (CMT) comprises some of the most common neuromuscular disorders. Over the past decade, understanding of the molecular basis of CMT has increased enormously. In addition, the neurophysiologic deficits and clinical problems associated with CMT are more clearly ...
Phillip F. Chance +4 more
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2017
Charcot–Marie–Tooth disease (CMT) is most commonly encountered group of hereditary neuropathies which lead to slowly progressive muscle weakness and sensory loss. Symptoms emerge in a length-dependent manner. The group is classified on basis of the mode of inheritance and electrophysiological findings. Genetic testing confirms the diagnosis. Management
Bhagyadhan A. Patel +2 more
semanticscholar +5 more sources
Charcot–Marie–Tooth disease (CMT) is most commonly encountered group of hereditary neuropathies which lead to slowly progressive muscle weakness and sensory loss. Symptoms emerge in a length-dependent manner. The group is classified on basis of the mode of inheritance and electrophysiological findings. Genetic testing confirms the diagnosis. Management
Bhagyadhan A. Patel +2 more
semanticscholar +5 more sources
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 ...
Gyula Acsadi +3 more
openaire +4 more sources
The Journal of Pediatrics, 1953
Summary A review of Charcot-Marie-Toothdisease is presented with illustrative cases. This condition can be differentiated from other neuromuscular conditions and diagnosed at a relatively early stage. It is self-limiting and surgery is of great help in restoring the affected individual to a more normal way of life.
Fremont A. Chandler, Ralph T. Lidge
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Summary A review of Charcot-Marie-Toothdisease is presented with illustrative cases. This condition can be differentiated from other neuromuscular conditions and diagnosed at a relatively early stage. It is self-limiting and surgery is of great help in restoring the affected individual to a more normal way of life.
Fremont A. Chandler, Ralph T. Lidge
openaire +3 more sources
Plasma neurofilament light chain as a potential biomarker in Charcot‐Marie‐Tooth disease
European Journal of Neurology, 2020Charcot‐Marie‐Tooth (CMT) disease is a chronic, slowly progressing disorder. The lack of specific disease progression biomarkers limits the execution of clinical trials. However, neurofilament light chain (NfL) has been suggested as a potential biomarker
E. Millere +11 more
semanticscholar +1 more source
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 ...
Jan Lindhe, M. Giargia
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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.
Matilde Laura +2 more
openaire +5 more sources
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.
Matilde Laura +2 more
openaire +5 more sources
Archives of Neurology, 1967
THE credit for discovering a "new disease" is often given not to the one who describes it first but to the one who describes it when the time is ripe. Thus, Virchow,1Schultze,2and others had reported cases of peroneal atrophy previously, but in 1886 medical knowledge had advanced sufficiently to accept this entity as a nosologic addition.
Irwin A. Brody, Robert H. Wilkins
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THE credit for discovering a "new disease" is often given not to the one who describes it first but to the one who describes it when the time is ripe. Thus, Virchow,1Schultze,2and others had reported cases of peroneal atrophy previously, but in 1886 medical knowledge had advanced sufficiently to accept this entity as a nosologic addition.
Irwin A. Brody, Robert H. Wilkins
openaire +3 more sources
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 ...
John B. Roberts, Clyde W. Dawson
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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 ...
John B. Roberts, Clyde W. Dawson
openaire +3 more sources
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
Francisco de Assis Aquino Gondim +4 more
openaire +3 more sources
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
Francisco de Assis Aquino Gondim +4 more
openaire +3 more sources