Associated Papers
Clinical, molecular, physiologic, and therapeutic feature of patients with CHRNA4 and CHRNB2 deficiency: A systematic review.
Jalaiei A et al.
Journal of Neurochemistry, 2025
Whole-exome sequencing of a Saudi epilepsy cohort reveals association signals in known and potentially novel loci.
Al Anazi AH et al.
Human Genomics, 2022
36539902 (PubMed )
Supplement: 40246_2022_444_MOESM2_ESM.xlsx › Epilepsy_Uncertain_variants
High-Throughput Genetic Testing in ALS: The Challenging Path of Variant Classification Considering the ACMG Guidelines.
Lattante S et al.
Genes, 2020
32987860 (PubMed )
Supplement: genes-11-01123-s001.zip › Supplementary_Table_I.xlsx › Variant_list
A de novo GABRA2 missense mutation in severe early-onset epileptic encephalopathy with a choreiform movement disorder.
Orenstein N et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2018
A rare missense mutation in CHRNA4 associates with smoking behavior and its consequences.
Thorgeirsson TE et al.
Molecular Psychiatry, 2016
Rare human nicotinic acetylcholine receptor α4 subunit (CHRNA4) variants affect expression and function of high-affinity nicotinic acetylcholine receptors.
McClure-Begley TD et al.
The Journal of Pharmacology and Experimental Therapeutics, 2014
Replication of association of CHRNA4 rare variants with sporadic amyotrophic lateral sclerosis: the Italian multicentre study.
Sabatelli M et al.
Amyotrophic Lateral Sclerosis : Official Publication of the World Federation of Neurology Research Group on Motor Neuron Diseases, 2012
Rare nonsynonymous variants in alpha-4 nicotinic acetylcholine receptor gene protect against nicotine dependence.
Xie P et al.
Biological Psychiatry, 2011
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