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Retinitis pigmentosa prior to familial ALS caused by a homozygous cilia and flagella-associated protein 410 mutation

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  • Contributors TKu, HMo, HMa and HK contributed to the study concept and design. TKu, TMukai, TMurao, MT, TT and HT contributed to clinical data equitation and analysis. HMo, YM, KK, RO, and HK contributed to the genetic analysis. TKu, HMo, HMa and HK contributed to drafting the manuscript and figures.

  • Funding This work was partially supported by a Grant-in-Aid for Scientific Research (B; grant no. JP26293211), the Funding Programme for Next Generation World-Leading Researchers (LS088) from JSPS, a Grant-in-Aid for Scientific Research on Innovative Areas (‘Brain Environment’; grant no. JP23111008) from MEXT, Grants-in-Aid for Research on Rare and Intractable Diseases from the Research Committee on the Establishment of Novel Treatments for Amyotrophic Lateral Sclerosis of AMED (grant no. 16ek0109013h0003) and a Grant from the Takeda Science Foundation.

  • Competing interests None declared.

  • Patient consent for publication Obtained.

  • Ethics approval The Institutional Review Boards of Hiroshima University.

  • Provenance and peer review Not commissioned; externally peer reviewed.