نتایج جستجو برای: myopathies

تعداد نتایج: 2714  

Journal: :Journal of neurology, neurosurgery, and psychiatry 2000
T Mozaffar A Pestronk

OBJECTIVE To evaluate muscle pathology and clinical characteristics in patients with a myopathy and serum antibodies to the Jo-1 antigen (histidyl t-RNA synthetase). BACKGROUND Anti-Jo-1 antibodies occur in syndromes that may include muscle weakness and pain, Raynaud's phenomenon, interstitial lung disease, arthritis, and a skin rash different from that seen in dermatomyositis. The muscle pat...

Journal: :Journal of lipid research 2012
Harjot K Saini-Chohan Ryan W Mitchell Frédéric M Vaz Teresa Zelinski Grant M Hatch

As the specific composition of lipids is essential for the maintenance of membrane integrity, enzyme function, ion channels, and membrane receptors, an alteration in lipid composition or metabolism may be one of the crucial changes occurring during skeletal and cardiac myopathies. Although the inheritance (autosomal dominant, autosomal recessive, and X-linked traits) and underlying/defining mut...

Journal: :The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques 2008
Steven K Baker Imtiaz A Samjoo

Approximately 95% of statin-treated patients tolerate this form of cholesterol management without any adverse effects. However, given their efficacy in reducing low density lipoproteins and cardiovascular events large numbers of patients are selected for statin therapy. Therefore muscle complications are, in fact, quite common. Limited understanding of the underlying pathophysiology has hampere...

2018
Marilda Guimarães Silva Samuel Katsuyuki Shinjo

Background: There are scarce studies in the literature about hyaluronic acid in systemic autoimmune myopathies. oBjectives: To analyze the serum level of hyaluronic acid in patients with dermatomyositis and polymyositis. Methods: Cross-sectional study, single-center, that evaluated hyaluronic acid in 18 dermatomyositis and 15 polymyositis (Bohan and Peter criteria), newly diagnosed, with clinic...

Journal: :Human mutation 2014
Vilma-Lotta Lehtokari Kirsi Kiiski Sarah A Sandaradura Jocelyn Laporte Pauliina Repo Jennifer A Frey Kati Donner Minttu Marttila Carol Saunders Peter G Barth Johan T den Dunnen Alan H Beggs Nigel F Clarke Kathryn N North Nigel G Laing Norma B Romero Thomas L Winder Katarina Pelin Carina Wallgren-Pettersson

A mutation update on the nebulin gene (NEB) is necessary because of recent developments in analysis methodology, the identification of increasing numbers and novel types of variants, and a widening in the spectrum of clinical and histological phenotypes associated with this gigantic, 183 exons containing gene. Recessive pathogenic variants in NEB are the major cause of nemaline myopathy (NM), o...

2013
Johann Böhm Nasim Vasli Edoardo Malfatti Stéphanie Le Gras Claire Feger Bernard Jost Nicole Monnier Julie Brocard Hatice Karasoy Marion Gérard Maggie C. Walter Peter Reilich Valérie Biancalana Christine Kretz Nadia Messaddeq Isabelle Marty Joël Lunardi Norma B. Romero Jocelyn Laporte

Congenital myopathies are severe muscle disorders affecting adults as well as children in all populations. The diagnosis of congenital myopathies is constrained by strong clinical and genetic heterogeneity. Moreover, the majority of patients present with unspecific histological features, precluding purposive molecular diagnosis and demonstrating the need for an alternative and more efficient di...

Journal: :Journal of neurology, neurosurgery, and psychiatry 1991
J Walton

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