Antisense oligonucleotide therapy in an individual with KIF1A-associated neurological disorder

Analysis of protein-coding genetic variation in 60,706 humans

Monkol Lek, Konrad J. Karczewski, Eric Vallabh Minikel et al. · Nature · 2016 · 10.3K citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease

Jin‐Kuk Kim, Chunguang Hu, Christelle Moufawad El Achkar et al. · New England Journal of Medicine · 2019 · 805 citations · Full text

Life Sciences, Molecular Medicine, Neurology +17

De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy

Jae-Ran Lee, Myriam Srour, Doyoun Kim et al. · Human Mutation · 2014 · 159 citations

Life Sciences, Genetics, Neurology +17

A framework for individualized splice-switching oligonucleotide therapy

Jin‐Kuk Kim, Sijae Woo, Claudio M. de Gusmão et al. · Nature · 2023 · 154 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Motor Protein KIF1A Is Essential for Hippocampal Synaptogenesis and Learning Enhancement in an Enriched Environment

Makoto Kondo, Yosuke Takei, Nobutaka Hirokawa · Neuron · 2012 · 148 citations · Full text

Life Sciences, Neurobiology, Neuroscience +17