Yosuke Kokunai

Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy

Charlotte Fugier, Arnaud F. Klein, Caroline Hammer et al. · Nature Medicine · 2011 · 325 citations

T Tubule Alterations, Medicine, Genetics +6

Splicing misregulation of SCN5A contributes to cardiac-conduction delay and heart arrhythmia in myotonic dystrophy

Fernande Freyermuth, Frédérique Rau, Yosuke Kokunai et al. · Nature Communications · 2016 · 198 citations · Full text

A Kir3.4 mutation causes Andersen–Tawil syndrome by an inhibitory effect on Kir2.1

Yosuke Kokunai, Tomohiko Nakata, Mitsuru Furuta et al. · Neurology · 2014 · 73 citations

A mutation in a rare type of intron in a sodium-channel gene results in aberrant splicing and causes myotonia

Tomoya Kubota, Xavier Roca, Takashi Kimura et al. · Human Mutation · 2011 · 27 citations · Full text

Aberrant Splicing, Genetics, Molecular Biology +16

A case of non-dystrophic myotonia with concomitant mutations in the SCN4A and CLCN1 genes

Hideki Kato, Yosuke Kokunai, Carine Dalle et al. · Journal of the Neurological Sciences · 2016 · 25 citations

Developmental Biology, Mendelian Disorder, Genetic Disorder +6