Kazuhiro Sanpei

Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT

Kazuhiro Sanpei, Hiroki Takano, S. Igarashi et al. · Nature Genetics · 1996 · 774 citations

Life Sciences, Genetics, Molecular Genetics +17

Localization of a gene for an autosomal recessive form of juvenile Parkinsonism to chromosome 6q25.2-27.

Hiroto Matsumine, Masaaki Saito, Satoe Shimoda‐Matsubayashi et al. · PubMed · 1997 · 374 citations

Life Sciences, Genetics, Molecular Genetics +14

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

Hiroyuki Ishiura, Koichiro Doi, Jun Mitsui et al. · Nature Genetics · 2018 · 335 citations

Medicine, Neurology, Neuroscience +11

Evidence for inter-generational instability in the CAG repeat in the MJD1 gene and for conserved haplotypes at flanking markers amongst Japanese and Caucasian subjects with Machado-Joseph disease

Yoshihisa Takiyama, S. Igasrashi, Ekaterina Rogaeva et al. · Human Molecular Genetics · 1995 · 140 citations

Life Sciences, Genetics, Molecular Genetics +17

Hypertrophic pachymeningitis: significance of myeloperoxidase anti-neutrophil cytoplasmic antibody

Akiko Yokoseki, Etsuji Saji, Musashi Arakawa et al. · Brain · 2013 · 138 citations · Full text

Life Sciences, Immunology, Pathology +16