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Mano KK, Matsukawa T, Mitsui J, Ishiura H, Tokushige S, Takahashi Y, Sato NS, Nakamoto FK, Ichikawa Y, Nagashima Y, Terao Y, Shimizu J, Hamada M, Uesaka Y, Oyama G, Ogawa G, Yoshimura J, Doi K, Morishita S, Tsuji S, Goto J. Atypical parkinsonism caused by Pro105Leu mutation of prion protein: A broad clinical spectrum. Neurol Genet. 2016 Jan 7;2(1):e48. doi: 10.1212/NXG.0000000000000048. eCollection 2016 Feb. PubMed PMID: 27066585; PubMed Central PMCID: PMC4817902.

Nishikawa A, Mori-Yoshimura M, Segawa K, Hayashi YK, Takahashi T, Saito Y, Nonaka I, Krahn M, Levy N, Shimizu J, Mitsui J, Kimura E,Goto J, Yonemoto N, Aoki M, Nishino I, Oya Y, Murata M. Respiratory and cardiac function in japanese patients with dysferlinopathy. Muscle Nerve. 2016 Mar;53(3):394-401. doi: 10.1002/mus.24741. Epub 2016 Jan 27. PubMed PMID: 26088049.

Williams KL, Topp S, Yang S, Smith B, Fifita JA, Warraich ST, Zhang KY, Farrawell N, Vance C, Hu X, Chesi A, Leblond CS, Lee A, Rayner SL, Sundaramoorthy V, Dobson-Stone C, Molloy MP, van Blitterswijk M, Dickson DW, Petersen RC, Graff-Radford NR, Boeve BF, Murray ME, Pottier C, Don E, Winnick C, McCann EP, Hogan A, Daoud H, Levert A, Dion PA, Mitsui J, Ishiura H, Takahashi Y,Goto J, Kost J, Gellera C, Gkazi AS, Miller J, Stockton J, Brooks WS, Boundy K, Polak M, Muñoz-Blanco JL, Esteban-Pérez J, Rábano A, Hardiman O, Morrison KE, Ticozzi N, Silani V, de Belleroche J, Glass JD, Kwok JB, Guillemin GJ, Chung RS, Tsuji S, Brown RH Jr, García-Redondo A, Rademakers R, Landers JE, Gitler AD, Rouleau GA, Cole NJ, Yerbury JJ, Atkin JD, Shaw CE, Nicholson GA, Blair IP. CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia. Nat Commun. 2016 Apr 15;7:11253. doi: 10.1038/ncomms11253. PubMed PMID: 27080313; PubMed Central PMCID: PMC4835537.

Matsukawa T, Koshi KM, Mitsui J, Bannai T, Kawabe M, Ishiura H, Terao Y, Shimizu J, Murayama K, Yoshimura J, Doi K, Morishita S, Tsuji S, Goto J. Slowly progressive d-bifunctional protein deficiency with survival to adulthood diagnosed by whole-exome sequencing. J Neurol Sci. 2017 Jan 15;372:6-10. doi: 10.1016/j.jns.2016.11.009. Epub 2016 Nov 9. PubMed PMID: 28017249.

Sato NS, Maekawa R, Ishiura H, Mitsui J, Naruse H, Tokushige SI, Sugie K, Tate　G, Shimizu J, Goto J, Tsuji S, Shiio Y. Partial duplication of DHH causes　minifascicular neuropathy: A novel mutation detection of DHH. Ann Clin Transl　Neurol. 2017 May 22;4(6):415-421. doi: 10.1002/acn3.417. eCollection 2017 Jun.　PubMed PMID: 28589169; PubMed Central PMCID: PMC5454394.