Mami Yamasaki, M.D., Ph.D.

Affiliations: 
Univ. of Osaka 
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"Mami Yamasaki"
Mean distance: 16.13 (cluster 11)
 
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Publications

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Hori I, Otomo T, Nakashima M, et al. (2017) Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement. Scientific Reports. 7: 3552
Bamba Y, Shofuda T, Kato M, et al. (2016) In vitro characterization of neurite extension using induced pluripotent stem cells derived from lissencephaly patients with TUBA1A missense mutations. Molecular Brain. 9: 70
Hori I, Miya F, Ohashi K, et al. (2016) Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. American Journal of Medical Genetics. Part A
Yokoi S, Ishihara N, Miya F, et al. (2015) TUBA1A mutation can cause a hydranencephaly-like severe form of cortical dysgenesis. Scientific Reports. 5: 15165
Okamoto N, Miya F, Tsunoda T, et al. (2014) KIF1A mutation in a patient with progressive neurodegeneration. Journal of Human Genetics. 59: 639-41
Okamoto N, Miya F, Tsunoda T, et al. (2014) Targeted next-generation sequencing in the diagnosis of neurodevelopmental disorders. Clinical Genetics
Bamba Y, Shofuda T, Kanematsu D, et al. (2014) Differentiation, polarization, and migration of human induced pluripotent stem cell-derived neural progenitor cells co-cultured with a human glial cell line with radial glial-like characteristics. Biochemical and Biophysical Research Communications. 447: 683-8
Shofuda T, Kanematsu D, Fukusumi H, et al. (2013) Human Decidua-Derived Mesenchymal Cells Are a Promising Source for the Generation and Cell Banking of Human Induced Pluripotent Stem Cells. Cell Medicine. 4: 125-47
Fukusumi H, Shofuda T, Kanematsu D, et al. (2013) Feeder-free generation and long-term culture of human induced pluripotent stem cells using pericellular matrix of decidua derived mesenchymal cells. Plos One. 8: e55226
Yoneda Y, Haginoya K, Kato M, et al. (2013) Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly. Annals of Neurology. 73: 48-57
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