|1.||Wallgren-Pettersson, Carina: 18 articles (10/2015 - 10/2002)|
|2.||Granzier, Henk: 13 articles (01/2015 - 07/2009)|
|3.||Lehtokari, Vilma-Lotta: 12 articles (10/2015 - 09/2004)|
|4.||Pelin, Katarina: 12 articles (12/2014 - 10/2002)|
|5.||Beggs, Alan H: 10 articles (01/2015 - 09/2004)|
|6.||Ottenheijm, Coen A C: 10 articles (01/2014 - 07/2009)|
|7.||Labeit, Siegfried: 7 articles (06/2013 - 07/2003)|
|8.||Laing, Nigel G: 6 articles (12/2014 - 09/2004)|
|9.||Lawlor, Michael W: 5 articles (09/2015 - 01/2011)|
|10.||Donner, Kati: 5 articles (12/2014 - 10/2002)|
05/01/2010 - "Thus, the present study provides important novel insights into the pathogenesis of muscle weakness in nebulin-based NM."
07/01/2009 - "Thus, the present study is the first to show a distinct genotype-functional phenotype correlation in patients with NM due to a nebulin mutation, and provides evidence for the notion that dysregulated thin filament length contributes to muscle weakness in NM patients with nebulin mutations. "
07/01/2009 - "Furthermore, a striking similarity between the contractile and structural phenotypes of nebulin-deficient mouse muscle and human NM-NEB muscle was observed, indicating that the nebulin knockout model is well suited for elucidating the functional basis of muscle weakness in NM and for the development of treatment strategies."
06/19/2006 - "Nebulin-deficient mice die within 8-11 d after birth, with symptoms including decreased milk intake and muscle weakness. "
06/01/2013 - "In conclusion, we have characterized the first nebulin-based nemaline myopathy model, which recapitulates important features of the phenotype observed in patients harbouring this particular mutation, and which has severe muscle weakness caused by thin filament dysfunction."
|2.||Nemaline Myopathies (Nemaline Myopathy)
10/01/2015 - "We describe 3 young patients presenting congenital core-rod myopathy with bilateral foot-drop associated with autosomal recessive nebulin gene (NEB) mutations detected by exome sequencing. "
09/15/2015 - "Nebulin mutations are the main cause of nemaline myopathy (NEM), with typical adult patients having low expression of nebulin, yet the roles of nebulin in adult muscle remain poorly understood. "
09/15/2015 - "Nebulin deficiency in adult muscle causes sarcomere defects and muscle-type-dependent changes in trophicity: novel insights in nemaline myopathy."
05/01/2015 - "Based on biopsy material, genetic analyses and muscle MRI, we identified two novel, compound-heterozygous variants in the nebulin gene after a 30 year clinical history, which cause a classical childhood type of nemaline myopathy. "
05/01/2015 - "Two novel nebulin variants in an adult patient with congenital nemaline myopathy."
|3.||Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker)
10/01/1988 - "Immunocytochemical study of nebulin in Duchenne muscular dystrophy."
06/01/1988 - "This protein, which is missing in the skeletal muscle of two patients with Duchenne muscular dystrophy, has a molecular mass of approximately equal to 320-420 kDa and is clearly different from the putative Duchenne muscular dystrophy-related protein nebulin. "
03/01/1988 - "The presence of nebulin in a muscle specimen from a patient with Duchenne muscular dystrophy (DMD) due to a large deletion precludes the possibility that this protein is the DMD gene product."
01/08/1987 - "Is nebulin the defective gene product in Duchenne muscular dystrophy?"
11/16/1987 - "Nebulin and titin expression in Duchenne muscular dystrophy appears normal."
01/01/2009 - "The relationship between changes of cardiac function and the gene expressions of two major myocardial skeleton proteins, titin and nebulin, and the effect of gypenosides on these gene expressions in diabetic cardiomyopathy rat were explored in the present study. "
01/01/2009 - "We conclude that (1) the cardiac function as well as the mRNA expressions of titin and nebulin decreased in diabetic cardiomyopathy rats; (2) gypenosides secure cardiac muscles and their function from diabetic impairment and these beneficial effects of gypenosides are not by changing the expressions of titin and nebulin."
01/01/2009 - "The results indicated that (1) the diabetic cardiomyopathy rats had decreased LVSP and +/- dP/dt(max), increased LVEDP, and prolonged t-dP/dt(max) than normal rats; (2) LVSP and +/- dP/dt(max) in diabetic cardiomyopathy rats treated with gypenosides were significantly higher and LVEDP and t-dP/dt(max) were significantly lower than those without giving gypenosides; (3) the mRNA contents and proteins of titin and nebulin in diabetic cardiomyopathy rats were remarkably lower than those in the control rats and gypenosides had no effect on mRNA and protein expression levels of titin and nebulin in diabetic cardiomyopathy rats. "
|5.||Central Core Myopathy (Central Core Disease)
08/01/1998 - "Studies of candidate proteins, such as nebulin in nemaline myopathy, and the ryanodine receptor in central core disease, are, however, in progress, and as more defective genes are identified, and antibodies become available, immunocytochemistry will have an increasingly important role. "
|1.||Proteins (Proteins, Gene)
|4.||Ryanodine Receptor Calcium Release Channel (Ryanodine Receptor)
|7.||Actins (F Actin)
|8.||Troponin T (T, Troponin)