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CHRND gene

Known as: CHRND, ACETYLCHOLINE RECEPTOR, MUSCLE, DELTA SUBUNIT, cholinergic receptor nicotinic delta subunit 
 
National Institutes of Health

Papers overview

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2020
2020
Congenital myasthenic syndromes (CMS) are a group of inherited disorders caused by mutations in genes encoding proteins essential… Expand
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2017
2017
Introduction: Congenital myasthenic syndromes (CMS) are a group of genetic disorders that stem mostly from molecular defects in… Expand
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2015
2015
BackgroundFetal akinesia/hypokinesia, arthrogryposis and severe congenital myopathies are heterogeneous conditions usually… Expand
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2013
2013
The objective of this study was to report the clinical phenotype and genetic analysis of two Indian families with Escobar… Expand
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2009
2009
Posterior microphthalmia (PM) is a relatively rare autosomal recessive condition with normal anterior segment and small posterior… Expand
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Highly Cited
2009
Highly Cited
2009
Tobacco smoking continues to be a leading cause of preventable death. Recent research has underscored the important role of… Expand
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Highly Cited
2008
Highly Cited
2008
Multiple pterygium syndromes (MPS) comprise a group of multiple congenital anomaly disorders characterized by webbing (pterygia… Expand
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Highly Cited
2008
Highly Cited
2008
Impaired fetal movement causes malformations, summarized as fetal akinesia deformation sequence (FADS), and is triggered by… Expand
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2006
2006
The objective of this study was to analyse the mutations of the acetylcholine receptor (AChR) delta subunit gene (CHRND) in a… Expand
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2004
2004
The muscle acetylcholine receptor (AChR) is the main target self-antigen in acquired autoimmune myasthenia gravis (MG). Here, we… Expand
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