Associated Papers
Novel ancestry-specific primary open-angle glaucoma loci and shared biology with vascular mechanisms and cell proliferation.
Lo Faro V et al.
Cell Reports. Medicine, 2024
38382466 (PubMed )
Supplement: mmc8.xlsx › Sheet1
No Hot Spot Mutations CHRNE c.1327 delG, CHAT c.914T>C, and RAPSN c.264C>A in Iranian Patients with Congenital Myasthenic Syndrome.
Parvizi Omran S et al.
Iranian Journal of Child Neurology, 2019
Lack of founder haplotype for the rapsyn N88K mutation: N88K is an ancient founder mutation or arises from multiple founders.
Ohno K et al.
Journal of Medical Genetics, 2004
Common founder effect of rapsyn N88K studied using intragenic markers.
Dunne V et al.
Journal of Human Genetics, 2004
Rapsyn mutations in hereditary myasthenia: distinct early- and late-onset phenotypes.
Burke G et al.
Neurology, 2003
Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients.
Müller JS et al.
Neurology, 2003
E-box mutations in the RAPSN promoter region in eight cases with congenital myasthenic syndrome.
Ohno K et al.
Human Molecular Genetics, 2003
Identification of pathogenic mutations in the human rapsyn gene.
Dunne V et al.
Journal of Human Genetics, 2003
Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome.
Ohno K et al.
American Journal of Human Genetics, 2002
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