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

Hiroyuki Ishiura, Shota Shibata, Jun Yoshimura, +47

Nature Genetics

Oculopharyngodistal MyopathyAutoimmune DiseaseNeurological DisorderMedicineOverlapping Disease +8

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

Hiroyuki Ishiura, Koichiro Doi, Jun Mitsui, +64

Nature Genetics

MedicineNeuroscienceNeuropathologyIntronic TttcaTttta Repeats +1

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

Sophie Tézenas du Montcel, Alexandra Dürr, Peter Bauer, +28

Brain

GeneticsVarious GenesHuman PolymorphismRepeat ExpansionsIdentified Expansions +14

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

Yi‐Chung Lee, Alexandra Dürr, Karen Majczenko, +19

Annals of Neurology

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

Yuji Takahashi, Y. Fukuda, Jun Yoshimura, +35

The American Journal of Human Genetics

Neurodegenerative DiseasesAmyotrophic Lateral SclerosisErbb4 MutationsGeneticsNeurology +4

The TRK-Fused Gene Is Mutated in Hereditary Motor and Sensory Neuropathy with Proximal Dominant Involvement

Hiroyuki Ishiura, Wataru Sako, Mari Yoshida, +25

The American Journal of Human Genetics

C9ORF72 Repeat Expansion in Amyotrophic Lateral Sclerosis in the Kii Peninsula of Japan

Hiroyuki Ishiura, Yuji Takahashi, Jun Mitsui, +10

Archives of Neurology

Variants associated with Gaucher disease in multiple system atrophy

Jun Mitsui, Takashi Matsukawa, Hidenao Sasaki, +68

Annals of Clinical and Translational Neurology

The genomic structure and expression of MJD, the Machado-Joseph disease gene

Yaeko Ichikawa, Jun Goto, Masahira Hattori, +12

Journal of Human Genetics

Machado-joseph Disease GeneMolecular Diagnostic TechniquesMendelian DisorderDisease MechanismGenetic Disorder +10

A novel ferritin light chain gene mutation in a Japanese family with neuroferritinopathy: Description of clinical features and implications for genotype–phenotype correlations

Akatsuki Kubota, Ayumi Hida, Yaeko Ichikawa, +8

Movement Disorders