نتایج جستجو برای: muscle pathology

تعداد نتایج: 431307  

Journal: :Journal of applied physiology 2010
Sengen Xu Mikhail Galperin Gary Melvin Robert Horowits Nina Raben Paul Plotz Leepo Yu

Pompe disease, a deficiency of lysosomal acid alpha-glucosidase, is a disorder of glycogen metabolism that can affect infants, children, or adults. In all forms of the disease, there is progressive muscle pathology leading to premature death. The pathology is characterized by accumulation of glycogen in lysosomes, autophagic buildup, and muscle atrophy. The purpose of the present investigation ...

Journal: :American journal of physiology. Regulatory, integrative and comparative physiology 2008
Iraklis I Pipinos Stanley A Swanson Zhen Zhu Aikaterini A Nella Dustin J Weiss Tanuja L Gutti Rodney D McComb B Timothy Baxter Thomas G Lynch George P Casale

A myopathy characterized by mitochondrial pathology and oxidative stress is present in patients with peripheral arterial disease (PAD). Patients with PAD differ in disease severity, mode of presentation, and presence of comorbid conditions. In this study, we used a mouse model of hindlimb ischemia to isolate and directly investigate the effects of chronic inflow arterial occlusion on skeletal m...

Journal: :Molecular genetics and metabolism 2016
Ans van der Ploeg Pierre G Carlier Robert-Yves Carlier John T Kissel Benedikt Schoser Stephan Wenninger Alan Pestronk Richard J Barohn Mazen M Dimachkie Ozlem Goker-Alpan Tahseen Mozaffar Loren D M Pena Zachary Simmons Volker Straub Michela Guglieri Peter Young Matthias Boentert Pierre-Yves Baudin Stephan Wens Raheel Shafi Carl Bjartmar Beth L Thurberg

BACKGROUND Late-onset Pompe disease is characterized by progressive skeletal myopathy followed by respiratory muscle weakness, typically leading to loss of ambulation and respiratory failure. In this population, enzyme replacement therapy (ERT) with alglucosidase alfa has been shown to stabilize respiratory function and improve mobility and muscle strength. Muscle pathology and glycogen clearan...

Journal: :Human molecular genetics 2011
Chantal A Mutsaers Thomas M Wishart Douglas J Lamont Markus Riessland Julia Schreml Laura H Comley Lyndsay M Murray Simon H Parson Hanns Lochmüller Brunhilde Wirth Kevin Talbot Thomas H Gillingwater

Low levels of full-length survival motor neuron (SMN) protein cause the motor neuron disease, spinal muscular atrophy (SMA). Although motor neurons undoubtedly contribute directly to SMA pathogenesis, the role of muscle is less clear. We demonstrate significant disruption to the molecular composition of skeletal muscle in pre-symptomatic severe SMA mice, in the absence of any detectable degener...

Journal: :avicenna journal of dental research 0
soheil pardis department of oral pathology, school of dentistry, shiraz university of medical sciences, shiraz, ir iranسازمان اصلی تایید شده: دانشگاه علوم پزشکی شیراز (shiraz university of medical sciences) mohammad mehdi taheri student research committee, shiraz university of medical sciences, shiraz, ir iranسازمان اصلی تایید شده: دانشگاه علوم پزشکی شیراز (shiraz university of medical sciences) mohammad mehdi fani department of oral medicine, school of dentistry, shiraz university of medical sciences, shiraz, ir iran; department of oral medicine, school of dentistry, shiraz university of medical sciences, shiraz, ir iran. tel: +98-9171118583, fax: +98-7116280807سازمان اصلی تایید شده: دانشگاه علوم پزشکی شیراز (shiraz university of medical sciences)

background aging causes many changes in human physiology, increasing the risk of pathologic conditions in elderly populations. different studies have shown higher frequency of oral and maxillofacial lesions in older people. knowing the prevalence and distribution of these lesions can help dentists in screening these patients. objectives this study aimed to evaluate the frequency and distributio...

2014
Mridula Sharma Prasanna Kumar Juvvuna Himani Kukreti Craig McFarlane

Skeletal muscle is a dynamic tissue with remarkable plasticity. Skeletal muscle growth and regeneration are highly organized processes thus it is not surprising that a high degree of complexity exists in the regulation of these processes. Recent discovery of non-coding microRNAs (miRNAs) has prompted extensive research in understanding the roles of these molecules in skeletal muscle. Research s...

Journal: :iranian journal of pathology 0
thorakkal shamim dept. of dentistry, oral pathology and microbiology, government taluk head quarters hospital, malappuram, india

background: there is a paucity of information about the oral pathology related articles published in a pathology journal. this study aimed to audit the oral pathology related articles published in iranian journal of pathology (iran j pathol)from 2006 to 2015. methods: bibliometric analysis of issues of iran j pathol from 2006 to 2015 was performed using web-based search.the articles published w...

Journal: :Human molecular genetics 2012
J Barney Bryson Carl Hobbs Michael J Parsons Karen D Bosch Amelie Pandraud Frank S Walsh Patrick Doherty Linda Greensmith

In amyotrophic lateral sclerosis (ALS), the progressive loss of motor neurons is accompanied by extensive muscle denervation, resulting in paralysis and ultimately death. Upregulation of amyloid beta (A4) precursor protein (APP) in muscle fibres coincides with symptom onset in both sporadic ALS patients and the SOD1(G93A) mouse model of familial ALS. We have further characterized this response ...

Journal: :American journal of physiology. Endocrinology and metabolism 2012
Mark D Peterson Paul M Gordon Edward A Hurvitz Charles F Burant

Cerebral palsy (CP) is caused by an insult to or malformation of the developing brain which affects motor control centers and causes alterations in growth, development, and overall health throughout the life span. In addition to the disruption in development caused by the primary neurological insult, CP is associated with exaggerated sedentary behaviors and a hallmark accelerated progression of...

2011
Joachim Berger Silke Berger Arie S Jacoby Steve D Wilton Peter D Currie

Duchenne muscular dystophy (DMD) is a severe muscle wasting disease caused by mutations in the dystrophin gene. By utilizing antisense oligonucleotides, splicing of the dystrophin transcript can be altered so that exons harbouring a mutation are excluded from the mature mRNA. Although this approach has been shown to be effective to restore partially functional dystrophin protein, the level of d...

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