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Functional validation of novel variants in B4GALNT1 associated with early-onset complex hereditary spastic paraplegia with impaired ganglioside synthesis.
Alecu, Julian Emanuel; Ohmi, Yuhsuke; Bhuiyan, Robiul H; Inamori, Kei-Ichiro; Nitta, Takahiro; Saffari, Afshin; Jumo, Hellen; Ziegler, Marvin; de Gusmao, Claudio Melo; Sharma, Nutan; Ohno, Shiho; Manabe, Noriyoshi; Yamaguchi, Yoshiki; Kambe, Mariko; Furukawa, Keiko; Sahin, Mustafa; Inokuchi, Jin-Ichi; Furakawa, Koichi; Ebrahimi-Fakhari, Darius.
Afiliação
  • Alecu JE; Department of Neurology and F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Ohmi Y; Department of Biomedical Sciences, Chubu University College of Life and Health Sciences, Kasugai, Japan.
  • Bhuiyan RH; Department of Medical Technology, Chubu University College of Life and Health Sciences, Kasugai, Japan.
  • Inamori KI; Department of Biomedical Sciences, Chubu University College of Life and Health Sciences, Kasugai, Japan.
  • Nitta T; Department of Biochemistry and Molecular Biology, University of Chittagong Faculty of Biological Sciences, Chittagong, Bangladesh.
  • Saffari A; Division of Glycopathology, Institute of Molecular Biomembrane and Glycobiology, Tohoku Medical and Pharmaceutical University, Sendai, Japan.
  • Jumo H; Division of Glycopathology, Institute of Molecular Biomembrane and Glycobiology, Tohoku Medical and Pharmaceutical University, Sendai, Japan.
  • Ziegler M; Department of Neurology and F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • de Gusmao CM; Department of Neurology and F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Sharma N; Department of Neurology and F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Ohno S; Department of Neurology and F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Manabe N; Movement Disorders Program, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Yamaguchi Y; Movement Disorders Unit, Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Kambe M; Division of Structural Glycobiology, Institute of Molecular Biomembrane and Glycobiology, Tohoku Medical and Pharmaceutical University, Sendai, Japan.
  • Furukawa K; Division of Structural Glycobiology, Institute of Molecular Biomembrane and Glycobiology, Tohoku Medical and Pharmaceutical University, Sendai, Japan.
  • Sahin M; Division of Structural Glycobiology, Institute of Molecular Biomembrane and Glycobiology, Tohoku Medical and Pharmaceutical University, Sendai, Japan.
  • Inokuchi JI; Department of Biomedical Sciences, Chubu University College of Life and Health Sciences, Kasugai, Japan.
  • Furakawa K; Department of Biomedical Sciences, Chubu University College of Life and Health Sciences, Kasugai, Japan.
  • Ebrahimi-Fakhari D; Department of Neurology and F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Am J Med Genet A ; 188(9): 2590-2598, 2022 09.
Article em En | MEDLINE | ID: mdl-35775650
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Paraplegia Espástica Hereditária Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Child / Female / Humans Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
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Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Paraplegia Espástica Hereditária Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Child / Female / Humans Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Estados Unidos