نتایج جستجو برای: cmt 4a

تعداد نتایج: 7820  

2017
Masahiro Ando Akihiro Hashiguchi Yuji Okamoto Akiko Yoshimura Yu Hiramatsu Junhui Yuan Yujiro Higuchi Jun Mitsui Hiroyuki Ishiura Ayako Umemura Koichi Maruyama Takeshi Matsushige Shinichi Morishita Masanori Nakagawa Shoji Tsuji Hiroshi Takashima

Charcot-Marie-Tooth disease (CMT) constitutes a heterogeneous group affecting motor and sensory neurons in the peripheral nervous system. MFN2 mutations are the most common cause of axonal CMT. We describe the clinical and mutational spectra of CMT patients harboring MFN2 mutations in Japan. We analyzed 1,334 unrelated patients with clinically suspected CMT referred by neurological and neuroped...

Journal: :Studies in health technology and informatics 2004
Robert H. Dolin John E. Mattison Simon P. Cohn Keith E. Campbell Andrew M. Wiesenthal Brad Hochhalter Diane Laberge Rita Barsoum James Shalaby Alan Abilla Robert J. Clements Carol M. Correia Diane Esteva John M. Fedack Bruce J. Goldberg Sridhar Gopalarao Eza Hafeza Peter Hendler Enrique Hernandez Ron Kamangar Rafique A. Khan Georgina Kurtovich Gerry Lazzareschi Moon H. Lee Tracy Lee David H. Levy Jonathan Y. Lukoff Cyndie Lundberg Michael P. Madden Trongtu L. Ngo Ben T. Nguyen Nikhilkumar P. Patel Jim Resneck David E. Ross Kathleen M. Schwarz Charles C. Selhorst Aaron Snyder Mohamed I. Umarji Max Vilner Roy Zer-Chen Chris Zingo

This paper describes Kaiser Permanente's (KP) enterprise-wide medical terminology solution, referred to as our Convergent Medical Terminology (CMT). Initially developed to serve the needs of a regional electronic health record, CMT has evolved into a core KP asset, serving as the common terminology across all applications. CMT serves as the definitive source of concept definitions for the organ...

2018
S A Kandeel D E Morin C D Calloway P D Constable

BACKGROUND Subclinical mastitis is of concern in veterinary hospitals because contagious mastitis pathogens might be unknowingly transmitted to susceptible cows and then back to their farm of origin. OBJECTIVES To evaluate the California mastitis test (CMT) as an indicator of intramammary infection (IMI) in lactating dairy cows admitted to a veterinary hospital. ANIMALS A total of 139 admis...

Journal: :IJDSN 2013
Changqiao Xu Xiangzhou Xia Jianfeng Guan Hongke Zhang Gabriel-Miro Muntean

Recently, vehicular sensor networks (VSNs) have emerged as a new intelligent transport networking paradigm in the Internet of Things. By sensing, collecting and delivering traffic-related information, VSNs can significantly improve both driving experience and traffic flow control, especially in constrained urban environments. Latest technological advances enable vehicular devices to be equipped...

Journal: :Neurologia 2012
J Berciano T Sevilla C Casasnovas R Sivera J J Vílchez J Infante C Ramón A L Pelayo-Negro I Illa

INTRODUCTION Charcot-Marie-Tooth disease (CMT) is the most frequent form of inherited neuropathy. In accordance with the inheritance pattern and degree of slowing of motor conduction velocity (MCV) of the median nerve, CMT encompasses five main forms: CMT1 (autosomal dominant [AD] or X-linked transmission and MCV < 38 m/s); CMT2 (AD or X-linked transmission and MCV > 38 m/s); CMT4 (autosomal re...

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 ...

2015
Tiziana Lencioni Giuseppe Piscosquito Marco Rabuffetti Gabriele Bovi Daniela Calabrese Alessia Aiello Enrica Di Sipio Luca Padua Manuela Diverio Davide Pareyson Maurizio Ferrarin

Charcot-Marie-Tooth (CMT) disease is the most common hereditary neuromuscular disorder. CMT1 is primarily demyelinating, CMT2 is primarily axonal, and CMTX1 is characterized by both axonal and demyelinating abnormalities. We investigated the role of somatosensory and muscular deficits on quiet standing and postural stabilization in patients affected by different forms of CMT, comparing their pe...

Journal: :The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques 2006
Domna-Maria Georgiou Paschalis Nicolaou David Chitayat Pantelitsa Koutsou Riyana Babul-Hirji Jiri Vajsar Jillian Murphy Kyproula Christodoulou

BACKGROUND Charcot-Marie-Tooth (CMT) disease is the most common form of inherited motor and sensory neuropathy. Based on neurophysiological and neuropathological criteria CMT has been sub-classified into two main types: demyelinating and axonal. Furthermore, it is genetically heterogeneous with autosomal dominant, autosomal recessive (AR) and X-linked modes of inheritance. Thus far, seven genes...

Journal: :The neurologist 2008
Madeline L Miley Kay E Wellik Dean M Wingerchuk Bart M Demaerschalk

OBJECTIVE Does cervical manipulative therapy (CMT) cause vertebral arterial dissection (VAD) and subsequent ischemic stroke? What is the best estimate of the incidence of CMT associated with VAD and ischemic stroke? METHODS The questions were addressed with a structured evidence-based clinical neurologic practice review. Participants included neuroscience students, consultant neurologists, cl...

2011
So Young Joo Byung-Ok Choi Deog Young Kim Soo Jin Jung Sun Young Cho Soo Jin Hwang

OBJECTIVE To investigate the characteristics of foot deformities in patients with Charcot-Marie-Tooth (CMT) disease compared with normal persons according to severity of disease. METHOD Sixty-two patients with CMT disease were recruited for this study. The normal control group was composed of 28 healthy people without any foot deformity. Patients were classified into a mild group and a modera...

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