نتایج جستجو برای: neuroaxonal dystrophy

تعداد نتایج: 22776  

2015
Rose Lange

PHYSICAL ACTIVITY LEVELS IN OBESE AND NON-OBESE WOMEN AND THEIRRELATIONSHIP WITH BODY MASS INDEX, PERCEIVED SELF-EFFICACY,PERCEIVED BENEFITS AND BARRIERS OF EXERCISE, AND COMMITMENT TO APLAN OF ACTIONby ROSE M. LANGEAugust 2010 Advisor: Dr. Feleta WilsonMajor: NursingDegree: Doctor of PhilosophyThe purpose of this descriptive correlational study was to examine re...

Journal: :EBRI issue brief 2009
Paul Fronstin Ruth Helman

PUBLIC SUPPORT FOR HEALTH REFORM: Findings from the 2009 Health Confidence Survey--the 12th annual HCS--indicate that Americans have already formed strong opinions regarding various aspects of health reform, even before details have been released regarding various key factors. These issues include health insurance market reform, the availability of a public plan option, mandates on employers an...

Journal: :Neuron 1996
Bih-Hwa Shieh Mei-Ying Zhu

Drosophila vision involves a G protein-coupled phospholipase C-mediated signaling pathway that leads to membrane depolarization through activation of Na+ and Ca2+ channels. InaD mutant flies have a M442K point mutation and display a slow recovery of the Ca2+ dependent current. We report that anti-INAD antibodies coimmunoprecipitate TRP, identified by its electrophoretic mobility, cross reactivi...

Journal: :acta medica iranica 0
fardeen ali malayeri department of neurogenetics, iranian center of neurological research, imam khomeini hospital , tehran university of medical sciences, tehran, iran. and department of clinical biochemistry, isfahan pharmaceutical sciences research center, school of pharmacy and pharmaceutical sciences, isfahan university of medical sciences, isfahan, iran. mojtaba panjehpour department of clinical biochemistry, isfahan pharmaceutical sciences research center, school of pharmacy and pharmaceutical sciences, isfahan university of medical sciences, isfahan, iran. ahmad movahedian department of clinical biochemistry, isfahan pharmaceutical sciences research center, school of pharmacy and pharmaceutical sciences, isfahan university of medical sciences, isfahan, iran. majid ghaffarpour iranian center of neurological research, imam khomeini hospital, tehran university of medical sciences, tehran, iran. gholam reza zamani department of neurology, children medical center, school of medicine, tehran university of medical sciences, tehran, iran. hajifaraj tabrizi department of medical genetics, school of medicine, tehran university of medical sciences, tehran, iran.

this study determines the value of linkage analysis using six rflp markers for carrier detection and prenatal diagnosis in familial dmd/bmd cases and their family members for the first time in the iranian population. we studied the dystrophin gene in 33 unrelated patients with clinical diagnosis of dmd or bmd. subsequently, we determined the rate of heterozygosity for six intragenic rflp marker...

Journal: :Glia 2012
Ruth Huizinga Baukje J van der Star Markus Kipp Rosa Jong Wouter Gerritsen Tim Clarner Fabiola Puentes Christine D Dijkstra Paul van der Valk Sandra Amor

Neuroaxonal degeneration is a pathological hallmark of multiple sclerosis (MS) contributing to irreversible neurological disability. Pathological mechanisms leading to axonal damage include autoimmunity to neuronal antigens. In actively demyelinating lesions, myelin is phagocytosed by microglia and blood-borne macrophages, whereas the fate of degenerating or damaged axons is unclear. Phagocytos...

Dabiri Shahriar Meymandi Simin Shamsi Shafiei Hamidreza

Epidermolysis Bullosa Puriginosa is a genetic mechanobullous disease characterized by pruritus, lichenified or nodular prurigo-like lesions, occasional trauma-induced blistering, excoriations, milia, nail dystrophy and albopapuloid lesions that appear at birth or later. Scarring and prurigo are most prominent on the shins. Herein, we report a case with a history of blisters since childhood foll...

Fahimeh Abdollahimajd, Kani Zahra Asadi Reza Jaffari Fesharaki Seyed-Mostafa Razavi Shahidi-Dadras Mohammad Yousefi Maryam

We hereby report a 79-year-old Iranian man presenting with nail dystrophy and subsequent development of purpuric and ecchymotic plaques, hemorrhagic bullae, and infiltrated papules on the head, neck and trunk. Histological examination of the gingiva, bone marrow aspiration, and biopsy confirmed the diagnosis of primary systemic amyloidosis. In this case, nail dystrophy was the presenting sign o...

2017
Johannes Ehler Lucinda K Barrett Valerie Taylor Michael Groves Francesco Scaravilli Matthias Wittstock Stephan Kolbaske Annette Grossmann Jörg Henschel Martin Gloger Tarek Sharshar Fabrice Chretien Francoise Gray Gabriele Nöldge-Schomburg Mervyn Singer Martin Sauer Axel Petzold

BACKGROUND Brain homeostasis deteriorates in sepsis, giving rise to a mostly reversible sepsis-associated encephalopathy (SAE). Some survivors experience chronic cognitive dysfunction thought to be caused by permanent brain injury. In this study, we investigated neuroaxonal pathology in sepsis. METHODS We conducted a longitudinal, prospective translational study involving (1) experimental sep...

Journal: :Human molecular genetics 2012
Mikhail Strokin Kevin L Seburn Gregory A Cox Kimberly A Martens Georg Reiser

Infantile neuroaxonal dystrophy (INAD; OMIM #no. 256600) is an inherited degenerative nervous system disorder characterized by nerve abnormalities in brain, spinal cord and peripheral nerves. About 85% of INAD patients carry mutations in the PLA2G6 gene that encodes for a Ca(2+)-independent phospholipase A(2) (VIA iPLA(2)), but how these mutations lead to disease is unknown. Besides regulating ...

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