Associated Papers
Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits.
Yuan B et al.
Genome Medicine, 2022
36180924 (PubMed )
Supplement: 13073_2022_1113_MOESM1_ESM.xlsx › Table_S6
Phenotypical and Myopathological Consequences of Compound Heterozygous Missense and Nonsense Variants in SLC18A3.
Della Marina A et al.
Cells, 2021
Functional and Biochemical Consequences of Disease Variants in Neurotransmitter Transporters: A Special Emphasis on Folding and Trafficking Deficits.
Bhat S et al.
Pharmacology & Therapeutics, 2021
The Neuromuscular Junction and Wide Heterogeneity of Congenital Myasthenic Syndromes.
Rodríguez Cruz PM et al.
International Journal of Molecular Sciences, 2018
Vesicular acetylcholine transporter defect underlies devastating congenital myasthenia syndrome.
Aran A et al.
Neurology, 2017
Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome.
O'Grady GL et al.
Neurology, 2016
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