SMN2 gene copy number affects the incidence and prognosis of motor neuron diseases in Japan
Our findings suggest that SMN2 copy number reduction may adversely affect the onset and prognosis of MND, including ALS and LMND, in Japanese.
Authors
- Genki Tohnai
- Saori Toyoda
- Akio Yokoseki (ORCID: https://orcid.org/0000-0002-9610-3869)
- Akiyoshi Kakita (ORCID: https://orcid.org/0000-0003-4244-0277)
- Ryoichi Nakamura (ORCID: https://orcid.org/0000-0002-4854-3579)
- Satoshi Kuwabara (ORCID: https://orcid.org/0000-0002-4716-8578)
- Mari Tada (ORCID: https://orcid.org/0000-0003-1485-0703)
- Tomohiko Ishihara (ORCID: https://orcid.org/0000-0001-9915-8665)
- Ryuji Kaji (ORCID: https://orcid.org/0000-0001-6207-1080)
- Osamu Kano (ORCID: https://orcid.org/0000-0003-3748-3694)
- Sachiko Hirokawa (ORCID: https://orcid.org/0009-0000-2956-9397)
- Yuishin Izumi (ORCID: https://orcid.org/0000-0002-3048-9041)
- Akihide Koyama (ORCID: https://orcid.org/0009-0003-1508-8586)
- Gen Sobue (ORCID: https://orcid.org/0000-0003-4769-5922)
- Yuya Hatano (ORCID: https://orcid.org/0000-0001-9048-5985)
- Kenta Kashiwagi
- Masashi Aoki (ORCID: https://orcid.org/0000-0001-7284-1069)
- Mitsuya Morita (ORCID: https://orcid.org/0000-0002-0164-3740)
- Osamu Onodera (ORCID: https://orcid.org/0000-0003-3354-5472)
- Asako Tamura
Institutions
- Toho University (JP)
- Jichi Medical University (JP)
- Chiba University (JP)
- Aichi Medical University (JP)
- Mie University (JP)
- Tohoku University (JP)
- Niigata University (JP)
- Tokushima University (JP)
Publication Details
- Journal
- BMC Medical Genomics
- Published
- 2024-11-06
- DOI
- https://doi.org/10.1186/s12920-024-02026-y
- Citations
- 2
- Primary Topic
- Neurogenetic and Muscular Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.88
Funders
- Japan Agency for Medical Research and Development
- Ministry of Education, Culture, Sports, Science and Technology
- Ministry of Health, Labour and Welfare
- Mitsubishi Tanabe Pharma Corporation
- Japan Society for the Promotion of Science