Yaeko Ichikawa

Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease

Hiroyuki Ishiura, Shota Shibata, Jun Yoshimura et al. · Nature Genetics · 2019 · 424 citations

Oculopharyngodistal Myopathy, Autoimmune Disease, Neurological Disorder +10

Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy

Hiroyuki Ishiura, Koichiro Doi, Jun Mitsui et al. · Nature Genetics · 2018 · 323 citations

Medicine, Neuroscience, Neuropathology +3

Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes

Sophie Tézenas du Montcel, Alexandra Dürr, Peter Bauer et al. · Brain · 2014 · 172 citations · Full text

Genetics, Various Genes, Human Polymorphism +16

Mutations in <i>KCND3</i> cause spinocerebellar ataxia type 22

Yi‐Chung Lee, Alexandra Dürr, Karen Majczenko et al. · Annals of Neurology · 2012 · 151 citations · Full text

ERBB4 Mutations that Disrupt the Neuregulin-ErbB4 Pathway Cause Amyotrophic Lateral Sclerosis Type 19

Yuji Takahashi, Y. Fukuda, Jun Yoshimura et al. · The American Journal of Human Genetics · 2013 · 143 citations · Full text

Neurodegenerative Diseases, Amyotrophic Lateral Sclerosis, Erbb4 Mutations +6