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Hereditary Myopathy with Early Respiratory Failure

Known as: EDSTROM MYOPATHY, Myopathy, Proximal, with Early Respiratory Muscle Involvement, MPRM 
National Institutes of Health

Related topics

Related topics

3 relations

Broader (3)

Genetic Diseases, InbornMyopathyRespiratory Insufficiency

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2019
2019
Expanding the importance of HMERF titinopathy: new mutations and clinical aspects
ObjectiveHereditary myopathy with early respiratory failure (HMERF) is caused by titin A-band mutations in exon 344 and… 
2018
2018
Loss of Sarcomeric Scaffolding as a Common Baseline Histopathologic Lesion in Titin-Related Myopathies
Titin-related myopathies are heterogeneous clinical conditions associated with mutations in TTN. To define their histopathologic… 
2016
2016
Cardiac involvement in hereditary myopathy with early respiratory failure
Objective: To assess whether hereditary myopathy with early respiratory failure (HMERF) due to the c.951434T>C; (p.Cys31712Arg… 
2016
2016
Medicine possession ratio as proxy for adherence to antiepileptic drugs: prevalence, associations, and cost implications
Objective To determine the adherence status to antiepileptic drugs (AEDs) among epilepsy patients; to observe the association… 
2014
2014
A new disease allele for the p.C30071R mutation in titin causing hereditary myopathy with early respiratory failure
2013
2013
Think worldwide: hereditary myopathy with early respiratory failure (HMERF) may not be rare
Respiratory failure in adult myopathy patients is rare. Nevertheless, it is often a characteristic clinical feature that can be a… 
2013
2013
A modified partial robust M-regression to improve prediction performance for data with outliers
This paper introduces a modified partial robust M-regression approach. The objective of the new approach is to improve the… 
2010
2010
An Italian case of hereditary myopathy with early respiratory failure (HMERF) not associated with the titin kinase domain R279W mutation
2008
2008
Modeling of laser-driven proton radiography of dense matter
Highly Cited
1988
Highly Cited
1988
Superior leukocyte separation with a discontinuous one-step Ficoll-Hypaque gradient for the isolation of human neutrophils.
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