Isabel Aznarez

Antisense oligonucleotides increase <i>Scn1a</i> expression and reduce seizures and SUDEP incidence in a mouse model of Dravet syndrome

Han Zhou, Chunling Chen, Anne Christiansen et al. · Science Translational Medicine · 2020 · 319 citations · Full text

Antisense oligonucleotide modulation of non-productive alternative splicing upregulates gene expression

Kian‐Huat Lim, Han Zhou, Hyun Yong Jeon et al. · Nature Communications · 2020 · 183 citations · Full text

Genetics, Rna Splicing, Immunology +17

Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe

Thilo Dörk, Milan Maçek, Frauke Mekus et al. · Human Genetics · 2000 · 145 citations

Fibrosis, Mendelian Disorder, Genetic Disorder +11

Antisense oligonucleotide–directed inhibition of nonsense-mediated mRNA decay

Tomoki Nomakuchi, Frank Rigo, Isabel Aznarez et al. · Nature Biotechnology · 2015 · 110 citations · Full text

Natural Sciences, Nucleic Acid Biochemistry, Rna Biology +3

A systematic analysis of intronic sequences downstream of 5′ splice sites reveals a widespread role for U-rich motifs and TIA1/TIAL1 proteins in alternative splicing regulation

Isabel Aznarez, Yoseph Barash, Ofer Shai et al. · Genome Research · 2008 · 99 citations · Full text