نتایج جستجو برای: pelizaeus

تعداد نتایج: 366  

2008
J. J. Laukka M. I. Makki J. Y. Garbern

Introduction: Diffusion tensor imaging (DTI) is a non-invasive exam that can characterize the microstructural properties of the brain white matter through the molecular diffusion processes. The application of DTI to the central nervous system (CNS) can accurately discriminates among different CNS disease pathologies by evaluating the microstructural architecture of the axonal fibers and myelin ...

Journal: :Pediatrics 2014
Jessica Wishnew Kristin Page Susan Wood Leo Galvin James Provenzale Maria Escolar Kathryn Gustafson Joanne Kurtzberg

Pelizaeus-Merzbacher Disease (PMD) is a rare X-linked recessive leukodystrophy caused by mutations in the proteolipid protein 1 gene on the Xq22 chromosome. PMD is a dysmyelinating disorder characterized by variable clinical presentation and course. Symptoms range from mild motor deficits to progressive spasticity and neurologic decline resulting in death at an early age. There is no definitive...

2013
Cherie M Southwood Bozena Fykkolodziej Fabien Dachet Alexander Gow

Although activation of the innate and adaptive arms of the immune system are undoubtedly involved in the pathophysiology of neurodegenerative diseases, it is unclear whether immune system activation is a primary or secondary event. Increasingly, published studies link primary metabolic stress to secondary inflammatory responses inside and outside of the nervous system. In this study, we show th...

2015
Dirk B Epplen Thomas Prukop Tobias Nientiedt Philipp Albrecht Friederike A Arlt Ruth M Stassart Celia M Kassmann Axel Methner Klaus-Armin Nave Hauke B Werner Michael W Sereda

OBJECTIVE Pelizaeus-Merzbacher disease (PMD) is a progressive and lethal leukodystrophy caused by mutations affecting the proteolipid protein (PLP1) gene. The most common cause of PMD is a duplication of PLP1 and at present there is no curative therapy available. METHODS By using transgenic mice carrying additional copies of Plp1, we investigated whether curcumin diet ameliorates PMD symptoms...

Journal: :The Journal of Cell Biology 1998
Alexander Gow Cherie M. Southwood Robert A. Lazzarini

Pelizaeus-Merzbacher disease (PMD) is a dysmyelinating disease resulting from mutations, deletions, or duplications of the proteolipid protein (PLP) gene. Distinguishing features of PMD include pleiotropy and a range of disease severities among patients. Previously, we demonstrated that, when expressed in transfected fibroblasts, many naturally occurring mutant PLP alleles encode proteins that ...

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