Associated Papers
Somatic signature of brain-specific single nucleotide variations in sporadic Alzheimer's disease.
Parcerisas A et al.
Journal of Alzheimer's Disease : Jad, 2014
25024348 (PubMed )
Supplement: sj-xls-6-alz-10.3233_jad-140891.xls › P3H
Common founder effect of rapsyn N88K studied using intragenic markers.
Dunne V et al.
Journal of Human Genetics, 2004
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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