نتایج جستجو برای: charcot marie tooth

تعداد نتایج: 97261  

Journal: :Cellular and Molecular Life Sciences (CMLS) 2003

2006
Jung-Hwa Lee Byung-Ok Choi

Charcot-Marie-Tooth disease (CMT) is the most common form of inherited motor and sensory neuropathy. Moreover, CMT is a genetically heterogeneous disorder of the peripheral nervous system, with many genes identified as CMT-causative. CMT has two usual classifications: type 1, the demyelinating form (CMT1); and type 2, the axonal form (CMT2). In addition, patients are classified as CMTX if they ...

2009
Isabel Banchs Carlos Casasnovas Antonia Albertí Laura De Jorge Mónica Povedano Jordi Montero Juan Antonio Martínez-Matos Victor Volpini

Charcot-Marie-Tooth (CMT) disease or hereditary motor and sensory neuropathy (HMSN) is a genetically heterogeneous group of conditions that affect the peripheral nervous system. The disease is characterized by degeneration or abnormal development of peripheral nerves and exhibits a range of patterns of genetic transmission. In the majority of cases, CMT first appears in infancy, and its manifes...

Journal: :Annals of the New York Academy of Sciences 1999
Jeffery M Vance

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. Future work on CMT2 should produce insight not only ...

Journal: :American journal of physical anthropology 2003
Yousuke Kaifu Kazutaka Kasai Grant C Townsend Lindsay C Richards

Worn, flat occlusal surfaces and anterior edge-to-edge occlusion are ubiquitous among the dentitions of prehistoric humans. The concept of attritional occlusion was proposed in the 1950s as a hypothesis to explain these characteristics. The main aspects of this hypothesis are: 1) the dentitions of ancient populations in heavy-wear environments were continuously and dynamically changing owing to...

2015
Sherif Ali Eltawansy Andrea Bakos John Checton

We report a case of a 53-year-old female presenting with a new-onset heart failure that was contributed secondary to noncompaction cardiomyopathy. The diagnosis was made by echocardiogram and confirmed by cardiac MRI. Noncompaction cardiomyopathy (also known as ventricular hypertrabeculation) is a newly discovered disease. It is considered to be congenital (genetic) cardiomyopathy. It is usuall...

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