نتایج جستجو برای: merzbacher

تعداد نتایج: 317  

Journal: :Brazilian oral research 2016
Marina Curra Gabriela Salvadori Roger Junges Manoel Sant'ana Filho Fernando Neves Hugo Manoela Domingues Martins

The aim of this study was to assess the accuracy of clinical diagnosis for lip lesions based on sensitivity and specificity. The retrospective analysis focused on the detection of lesions caused by potentially malignant disorders (PMDs) and malignant lesions (n = 1195). All cases were classified as benign, PMD, and malignant lesions. Concordance between diagnoses based on clinical examination a...

2017
Kimia Najafi Roxana Kariminejad Kaveh Hosseini Azadeh Moshtagh Gole Maryam Abbassi Neda Sadatian Masood Bazrgar Ariana Kariminejad Mohamad Hassan Kariminejad

Introduction. Pelizaeus-Merzbacher disease (PMD) is an X-linked recessive hypomyelinating leukodystrophy characterized by nystagmus, spastic quadriplegia, ataxia, and developmental delay. It is caused by mutation in the PLP1 gene. Case Description. We report a 9-year-old boy referred for oligoarray comparative genomic hybridization (OA-CGH) because of intellectual delay, seizures, microcephaly,...

1993
Matthew Merzbacher Wesley W. Chu

Pattern{Based Clustering for Database Attribute Values Matthew Merzbacher Wesley W. Chu Computer Science Department University of California Los Angeles, CA 90024 Abstract We present a method for automatically clustering similar attribute values in a database system spanning mulitple domains. The method constructs an attribute abstraction hierarchy for each attribute using rules that are derive...

Journal: :Neuron 2002
Cherie M Southwood James Garbern Wei Jiang Alexander Gow

The unfolded protein response (UPR) is a eukaryotic signaling pathway linking protein flux through the endoplasmic reticulum to transcription and translational repression. Herein, we demonstrate UPR activation in the leukodystrophy Pelizaeus-Merzbacher disease (PMD) as well as in three mouse models of this disease and transfected fibroblasts expressing mutant protein. The CHOP protein, widely k...

Journal: :Archives of general psychiatry 2000
J A Posener C DeBattista G H Williams H Chmura Kraemer B M Kalehzan A F Schatzberg

BACKGROUND Considerable research has been devoted to the hypothalamic-pituitary-adrenal (HPA) axis in depression, but relatively little attention has been given to intensive monitoring of hormone secretion over time. Such research is potentially important because the HPA axis has prominent circadian and ultradian periodicity. Comparison of depressed patients with and without psychotic features ...

Journal: :Journal of physics 2022

Abstract We conducted a series of fundamental research-based experimentations to measure the X-ray production cross sections K-, L-, and M-shells from thick samples Cu, Ag Au, respectively, for proton beam in lower energy range 0.7 - 3.5 MeV utilizing particle induced emission (PIXE) analysis. The measurement theories based on Merzbacher-Lewis (ML) relationship procedure are described. detector...

2014
Yuko Numasawa-Kuroiwa Yohei Okada Shinsuke Shibata Noriyuki Kishi Wado Akamatsu Masanobu Shoji Atsushi Nakanishi Manabu Oyama Hitoshi Osaka Ken Inoue Kazutoshi Takahashi Shinya Yamanaka Kenjiro Kosaki Takao Takahashi Hideyuki Okano

Pelizaeus-Merzbacher disease (PMD) is a form of X-linked leukodystrophy caused by mutations in the proteolipid protein 1 (PLP1) gene. Although PLP1 proteins with missense mutations have been shown to accumulate in the rough endoplasmic reticulum (ER) in disease model animals and cell lines transfected with mutant PLP1 genes, the exact pathogenetic mechanism of PMD has not previously been clarif...

Journal: :Journal of Nippon Medical School = Nippon Ika Daigaku zasshi 2015
Aya Ebina Iwao Sugitani Noriko Motoi

Intrathyroidal Epithelial Thymoma: Carcinoma Showing Thymus-like Differentiation Mimicking Squamous Cell Carcinoma of the Thyroid Aya Ebina, Iwao Sugitani, Noriko Motoi ... 2 Clinical Pictures in Pelizaeus-Merzbacher Disease: A Report of a Case Chiharu Miyatake, Shinya Koizumi, Hidehiko Narazaki, Takeshi Asano, Hitoshi Osaka, Kenji Kurosawa, Jun-ichi Takanashi, Osamu Fujino ... 74 Multispectral...

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