نتایج جستجو برای: cmt 4a

تعداد نتایج: 7820  

2014
Seo Jin Lee Ah Jung Seo Byung Sun Park Hyun Woo Jo Youngbuhm Huh

Charcot-Marie-Tooth disease (CMT) is the most common inherited motor and sensory neuropathy. Previous studies have found that, according to CMT patients, neuropathic pain is an occasional symptom of CMT. However, neuropathic pain is not considered to be a significant symptom associated with CMT and, as a result, no studies have investigated the pathophysiology underlying neuropathic pain in thi...

2016
Donald McCorquodale Evan M Pucillo Nicholas E Johnson

Charcot-Marie-Tooth (CMT) disease is the most common inherited neuropathy and one of the most common inherited diseases in humans. The diagnosis of CMT is traditionally made by the neurologic specialist, yet the optimal management of CMT patients includes genetic counselors, physical and occupational therapists, physiatrists, orthotists, mental health providers, and community resources. Rapidly...

2014
Helle Høyer Geir J. Braathen Øyvind L. Busk Øystein L. Holla Marit Svendsen Hilde T. Hilmarsen Linda Strand Camilla F. Skjelbred Michael B. Russell

Charcot-Marie-Tooth (CMT) disease is the most prevalent inherited neuropathy. Today more than 40 CMT genes have been identified. Diagnosing heterogeneous diseases by conventional Sanger sequencing is time consuming and expensive. Thus, more efficient and less costly methods are needed in clinical diagnostics. We included a population based sample of 81 CMT families. Gene mutations had previousl...

Journal: :genetics in the 3rd millennium 0
attarian shahram

charcot-marie-tooth (cmt) diseases represent a heterogeneous genetic disorder with more than 80 genes implicated, however sharing a similar phenotype. in recent years, advances in molecular genetics and molecular biology, and also the development of various animal models of cmt, have led to a better understanding. this knowledge represents a prerequisite for the development of future therapies ...

Journal: :Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2005
Beisha Tang Xiaomin Liu Guohua Zhao Wei Luo Kun Xia Qian Pan Fang Cai Zhengmao Hu Cheng Zhang Biao Chen Fufeng Zhang Lu Shen Ruxu Zhang Hong Jiang

BACKGROUND Charcot-Marie-Tooth (CMT) disease, the most common hereditary peripheral neuropathy, is highly clinically and genetically heterogeneous, and mutations in at least 18 genes have been identified. Recently, mutations in small heat shock protein 27 (Hsp27) were reported to cause CMT disease type 2F and distal hereditary motor neuropathy. OBJECTIVE To investigate the frequency and pheno...

2012
Meifang Shen Yuanlong Cao Mingchuan Zhang Kaixuan Wang Mingming Yu

Existing researches on performance analysis of SCTP’s Concurrent Multipath Transfer (CMT-SCTP) usually use DropTail algorithm as queue management algorithm without considering the impact of the background traffic. However, the background traffic of realistic network environments has an important impact on the QoS of SCTP. Besides, more and more Active Queue Management (AQM) algorithms have been...

Journal: :genetics in the 3rd millennium 0
raheleh vazehan zohreh fattahi mahsa fadaee elham parsimehr mehrshid faraji mona montajebiniat

charcot-marie-tooth disease (cmt) is the most common inherited neurological disorder, affecting both motor and sensory peripheral nerves. neurophysiological patterns divide cmt into three main groups: demyelinating cmt1 (upper limb motor nerve conduction velocity (mncv) <38 m/s), axonal cmt2 (mncv >38 m/s) and intermediate cmt (mncv 25-45 m/s). cmt has been also categorized based on the mode of...

A. Ebrahimi, S. Karimi Sh. Lotfalian

Four-hundred milk samples from half udders of 20 flocks of native breed goats were asepticallycollected. The samples were examined by California mastitis test (CMT). Twenty-one (5.25%) of 400 wereCMT-positive. The CMT-positive samples were then cultured and the following bacteria were isolated:Staphylococcus aureus in 3 (14.28%), CNS (coagulase-negative staphylococci) in 14 (66.66%), streptococ...

2017
Hui-Xia Niu Rui-Hao Wang Hong-Liang Xu Bo Song Jing Yang Chang-He Shi Yu-Sheng Li Bing-Qian Zhang Shao-Ping Wang Quan Yong Yuan-Yuan Wang Yu-Ming Xu

BACKGROUND The 9-hole peg test (9-HPT) and 10-meter walk test (10-MWT) are commonly used to test finger motor function and walking ability. The aim of this present study was to investigate the efficacy of these tests for evaluating functional loss in Chinese Charcot-Marie-Tooth (CMT) disease. METHODS Thirty-four Chinese CMT patients (CMT group) from August 2015 to December 2016 were evaluated...

2013
Ji-Eun Sung Moon-Hwa Kwak Ji-Eun Kim Young-Ju Lee Ro-Ui Kim Eun-Ah Kim Ga-Young Lee Dong-Seob Kim Dae-Youn Hwang

Atopic dermatitis (AD), which is known as the most common pruritic skin disease, is caused by epidermal barrier dysfunction, allergies, microwave radiation, histamine intolerance, and genetic defects. To investigate the therapeutic effects of fermented soycrud (FSC) on AD pathology, alteration of AD phenotypes induced by phthalic anhydride (PA) treatment was assessed by ear thickness analysis, ...

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