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CHRND gene

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

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Related topics

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CHRNB4 gene

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2017
2017
New compound heterozygous variants of the cholinergic receptor nicotinic delta subunit gene in a Chinese male with congenital myasthenic syndrome
Introduction: Congenital myasthenic syndromes (CMS) are a group of genetic disorders that stem mostly from molecular defects in… 
Review
2015
Review
2015
P164 – 2586: Congenital myasthenic syndrome in Israel: Genetic and clinical characterization
2013
2013
Clinical phenotype and the lack of mutations in the CHRNG, CHRND, and CHRNA1 genes in two Indian families with Escobar syndrome
The objective of this study was to report the clinical phenotype and genetic analysis of two Indian families with Escobar… 
2013
2013
Defective N-linked protein glycosylation pathway in congenital myasthenic syndromes.
  • H. Houlden
  • Brain : a journal of neurology
  • 2013
  • Corpus ID: 45464318
Congenital myasthenic syndromes are heterogeneous genetic disorders characterized by compromised neuromuscular transmission for… 
2011
2011
Associations of nicotine intake measures with CHRN genes in Finnish smokers.
INTRODUCTION Genetic effects contribute to individual differences in smoking behavior. Persistence to smoke despite known harmful… 
2009
2009
A genome-wide linkage scan in Tunisian families identifies a novel locus for non-syndromic posterior microphthalmia to chromosome 2q37.1
Posterior microphthalmia (PM) is a relatively rare autosomal recessive condition with normal anterior segment and small posterior… 
Highly Cited
2009
Highly Cited
2009
Absence of β-tropomyosin is a new cause of Escobar syndrome associated with nemaline myopathy
1997
1997
Paroxysmal dystonic choreoathetosis. Genetic linkage studies in a British family.
Paroxysmal dystonic choreoathetosis (PDC) is characterized by attacks of involuntary dystonic and choreoathetoid movements… 
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