Bilaketaren emaitzak - Takiyama, Yoshihisa

MRI Findings in Neuroferritinopathy nork Ohta, Emiko, Takiyama, Yoshihisa

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JASPAC: Japan Spastic Paraplegia Research Consortium nork Koh, Kishin, Ishiura, Hiroyuki, Tsuji, Shoji, Takiyama, Yoshihisa

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A p.Arg499His mutation in SPAST is associated with infantile-onset complicated spastic paraplegia: a case report and review of the literature nork Nan, Haitian, Shiraku, Hiroshi, Mizuno, Tomoko, Takiyama, Yoshihisa

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A heterozygous GRID2 mutation in autosomal dominant cerebellar ataxia nork Koh, Kishin, Shimazaki, Haruo, Ogawa, Matsuo, Takiyama, Yoshihisa

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SPG9A with the new occurrence of an ALDH18A1 mutation in a CMT1A family with PMP22 duplication: case report nork Koh, Kishin, Takaki, Ryusuke, Ishiura, Hiroyuki, Tsuji, Shoji, Takiyama, Yoshihisa

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Adult-onset Alexander disease with typical "tadpole" brainstem atrophy and unusual bilateral basal ganglia involvement: a case report and review of the literature nork Namekawa, Michito, Takiyama, Yoshihisa, Honda, Junko, Shimazaki, Haruo, Sakoe, Kumi, Nakano, Imaharu

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Novel SPG11 Mutations in a Patient with Symptoms Mimicking Multiple Sclerosis nork Mukai, Masako, Koh, Kishin, Ohnuki, Yuko, Nagata, Eiichiro, Takiyama, Yoshihisa, Takizawa, Shunya

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Spinocerebellar ataxia type 31 associated with REM sleep behavior disorder: a case report nork Shindo, Kazumasa, Sato, Tohko, Murata, Hiroaki, Ichinose, Yuta, Hata, Takanori, Takiyama, Yoshihisa

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Clinical and Genetic Study of the First Japanese FTDP-17 Patient with a Mutation of +3 in Intron 10 in the MAPT Gene nork Nan, Haitian, Takaki, Ryusuke, Shimozono, Keisuke, Ichinose, Yuta, Koh, Kishin, Takiyama, Yoshihisa

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A patient with ossification of the yellow ligament and ventriculomegaly with 22q11.2 deletion syndrome undiagnosed until adulthood nork Ichinose, Yuta, Kurita, Takafumi, Satake, Akane, Natori, Takahiro, Shindo, Kazumasa, Takiyama, Yoshihisa

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Spastic Paraplegia with Paget's Disease of Bone due to a VCP Gene Mutation nork Nakamura, Takumi, Kawarabayashi, Takeshi, Koh, Kishin, Takiyama, Yoshihisa, Ikeda, Yoshio, Shoji, Mikio

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Opsoclonus-myoclonus syndrome associated with multiple system atrophy nork Shindo, Kazumasa, Onohara, Akiko, Hata, Takanori, Kobayashi, Fumikazu, Nagasaka, Kaori, Nagasaka, Takamura, Takiyama, Yoshihisa

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Exome Sequencing Reveals a Novel Homozygous Frameshift Mutation in the CYP7B1 Gene in a Japanese Patient with SPG5 nork Nan, Haitian, Shimozono, Keisuke, Ichinose, Yuta, Tsuchiya, Mai, Koh, Kishin, Hiraide, Masaki, Takiyama, Yoshihisa

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Identification of a novel mutation in ATP13A2 associated with a complicated form of hereditary spastic paraplegia nork Odake, Yasuko, Koh, Kishin, Takiyama, Yoshihisa, Ishiura, Hiroyuki, Tsuji, Shoji, Yamada, Masahito, Yoshita, Mitsuhiro

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A novel mutation in the GBA2 gene in a Japanese patient with SPG46: A case report nork Nakamura-Shindo, Keiko, Ono, Kenjiro, Koh, Kishin, Ishiura, Hiroyuki, Tsuji, Shoji, Takiyama, Yoshihisa, Yamada, Masahito

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Characteristic MRI findings in beta-propeller protein-associated neurodegeneration (BPAN) nork Ichinose, Yuta, Miwa, Michiaki, Onohara, Akiko, Obi, Kimiko, Shindo, Kazumasa, Saitsu, Hirotomo, Matsumoto, Naomichi, Takiyama, Yoshihisa

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Pathological findings in a patient with non-dystrophic myotonia with a mutation of the SCN4A gene; a case report nork Hata, Takanori, Nagasaka, Takamura, Koh, Kishin, Tsuchiya, Mai, Ichinose, Yuta, Nan, Haitian, Shindo, Kazumasa, Takiyama, Yoshihisa

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MFN2-related Charcot-Marie-Tooth Disease with Atypical Ocular Manifestations nork Nan, Haitian, Hata, Takanori, Fukao, Toko, Fukao, Toshimichi, Chen, Wanjing, Kurita, Takafumi, Natori, Takahiro, Takiyama, Yoshihisa

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Novel SLC9A6 Variation in Female Carriers With Intellectual Disability and Atypical Parkinsonism nork Nan, Haitian, Kim, Yeon-Jeong, Tsuchiya, Mai, Ishida, Aki, Haro, Hirotaka, Hiraide, Masaki, Ohtsuka, Toshihisa, Takiyama, Yoshihisa

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Non-convulsive status epilepticus associated with neuronal intranuclear inclusion disease: A case report and literature review nork Shindo, Kazumasa, Tsuchiya, Mai, Hata, Takanori, Ichinose, Yuta, Koh, Kishin, Sone, Jun, Nagasaka, Takamura, Sobue, Gen, Takiyama, Yoshihisa

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