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UBAP1 mutations cause juvenile-onset hereditary spastic paraplegias (SPG80) and impair UBAP1 targeting to endosomes.
Nan, Haitian; Ichinose, Yuta; Tanaka, Masaki; Koh, Kishin; Ishiura, Hiroyuki; Mitsui, Jun; Mizukami, Heisuke; Morimoto, Masafumi; Hamada, Shun; Ohtsuka, Toshihisa; Tsuji, Shoji; Takiyama, Yoshihisa.
Affiliation
  • Nan H; Department of Neurology, Graduate School of Medical Sciences, University of Yamanashi, Yamanashi, 409-3898, Japan.
  • Ichinose Y; Department of Neurology, Graduate School of Medical Sciences, University of Yamanashi, Yamanashi, 409-3898, Japan.
  • Tanaka M; Institute of Medical Genomics, International University of Health and Welfare, Chiba, 286-8686, Japan.
  • Koh K; Department of Neurology, Graduate School of Medical Sciences, University of Yamanashi, Yamanashi, 409-3898, Japan.
  • Ishiura H; Department of Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, 113-8655, Japan.
  • Mitsui J; Department of Molecular Neurology, University of Tokyo, Graduate School of Medicine, Tokyo, 113-8655, Japan.
  • Mizukami H; Department of Neurology, Yokohama City Seibu Hospital, St. Marianna University School of Medicine, Yokohama, 241-0811, Japan.
  • Morimoto M; Department of Pediatrics, Kyoto Prefectural University of Medicine, Kyoto, 602-8566, Japan.
  • Hamada S; Department of Biochemistry, Graduate School of Medical Sciences, University of Yamanashi, Yamanashi, 409-3898, Japan.
  • Ohtsuka T; Department of Biochemistry, Graduate School of Medical Sciences, University of Yamanashi, Yamanashi, 409-3898, Japan.
  • Tsuji S; Institute of Medical Genomics, International University of Health and Welfare, Chiba, 286-8686, Japan.
  • Takiyama Y; Department of Molecular Neurology, University of Tokyo, Graduate School of Medicine, Tokyo, 113-8655, Japan.
J Hum Genet ; 64(11): 1055-1065, 2019 Nov.
Article in En | MEDLINE | ID: mdl-31515522
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Spastic Paraplegia, Hereditary / Carrier Proteins / Neurodegenerative Diseases / Genetic Predisposition to Disease Limits: Adolescent / Adult / Aged / Aged80 / Animals / Child / Female / Humans / Male / Middle aged Country/Region as subject: Asia Language: En Journal: J Hum Genet Journal subject: GENETICA MEDICA Year: 2019 Document type: Article Affiliation country: Country of publication:
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Spastic Paraplegia, Hereditary / Carrier Proteins / Neurodegenerative Diseases / Genetic Predisposition to Disease Limits: Adolescent / Adult / Aged / Aged80 / Animals / Child / Female / Humans / Male / Middle aged Country/Region as subject: Asia Language: En Journal: J Hum Genet Journal subject: GENETICA MEDICA Year: 2019 Document type: Article Affiliation country: Country of publication: