2. Academic Validation
  3. Oculopharyngodistal myopathy with coexisting histology of systemic neuronal intranuclear inclusion disease: Clinicopathologic features of an autopsied patient harboring CGG repeat expansions in LRP12

Oculopharyngodistal myopathy with coexisting histology of systemic neuronal intranuclear inclusion disease: Clinicopathologic features of an autopsied patient harboring CGG repeat expansions in LRP12

  • Acta Neuropathol Commun. 2020 Jun 3;8(1):75. doi: 10.1186/s40478-020-00945-2.
Rie Saito 1,  Hiroshi Shimizu 2,  Takeshi Miura 3 4,  Norikazu Hara 5,  Naomi Mezaki 3 4,  Yo Higuchi 4 5,  Akinori Miyashita 5,  Izumi Kawachi 4 6,  Kazuhiro Sanpei 3,  Yoshiaki Honma 3,  Osamu Onodera 4,  Takeshi Ikeuchi 5,  Akiyoshi Kakita 1
Affiliations

Affiliations

  • 1 Department of Pathology, Brain Research Institute, Niigata University, 1-757 Asahimachi, Chuo-ku, Niigata, 951-8585, Japan.
  • 2 Department of Pathology, Brain Research Institute, Niigata University, 1-757 Asahimachi, Chuo-ku, Niigata, 951-8585, Japan. [email protected].
  • 3 Department of Neurology, Sado General Hospital, Niigata, Japan.
  • 4 Department of Neurology, Brain Research Institute, Niigata University, Niigata, Japan.
  • 5 Department of Molecular Genetics, Brain Research Institute, Niigata University, Niigata, Japan.
  • 6 Comprehensive Medical Education Center, Niigata University School of Medicine, Niigata, Japan.
PMID: 32493488 DOI: 10.1186/s40478-020-00945-2
Keywords

Neuronal intranuclear inclusion disease; Neuropathology; Noncoding CGG expansions; Oculopharyngeal myopathy with leukoencephalopathy; Oculopharyngodistal myopathy.

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