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Identification and functional characterization of novel mutations including frameshift mutation in exon 4 of CSF1R in patients with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia

机译：具有轴突式白血病患者的CSF1R的外显子4中的新突变的鉴定和功能表征，包括轴突式与轴突球体和色素胶质胶质

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Takeshi Miura; Naomi Mezaki; Takuya Konno; Akio Iwasaki; Naoyuki Hara; Masatomo Miura; Michitaka Funayama; Yuki Unai; Yuichi Tashiro; Kenji Okita; Takeshi Kihara; Nobuo Ito; Yoichi Kanatsuka; David T. Jones; Norikazu Hara; Takanobu Ishiguro; Takayoshi Tokutake; Kensaku Kasuga; Hiroaki Nozaki; Dennis W. Dickson; Osamu Onodera; Zbigniew K. Wszolek; Takeshi Ikeuchi;
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1. Identification and functional characterization of novel mutations including frameshift mutation in exon 4 of CSF1R in patients with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia [J] . Miura Takeshi, Mezaki Naomi, Konno Takuya, Journal of neurology . 2018,第10期

机译：具有轴突球体患者的CSF1R的外显子4中的新型突变的鉴定和功能表征，包括轴突式脑膜病变和色素胶质胶质
2. A novel dominant-negative mutation of the CSF1R gene causes adult-onset leukoencephalopathy with axonal spheroids and pigmented glia [J] . Cuihua Leng, Miao Sun, Wei Ge, American Journal of Translational Research . 2019,第9期

机译：CSF1R基因的新型显性阴性突变导致成人发作的白细胞病与轴突球体和色素胶质胶质
3. A Case of Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia (ALSP) with Novel Mutation in CSF1R gene. [J] . Chumbalkar Vaibhav, Shiekhmohammed Mohammed, Zimmerman Earl, Journal of Neuropathology and Experimental Neurology: Official Journal of the American Association of Neuropathologists, Inc . 2018,第6期

机译：具有CSF1R基因的新突变的轴突球体和色素胶状胶质病的成人发作的白细胞病变的情况。
4. Characterization of a recessive mutation inducing suppression of a +1frameshift mutation in runs of G [C] . 19th tRNA workshop tRNA 2002"" . 2002

机译：隐性突变的特征，该隐性突变在G序列中诱导+1移码突变的抑制
5. The functional complexities of inherited cardiac troponin I mutations: Identification of calcium ion independent contractile dysfunction. [D] . Davis, Jennifer M. 2007

机译：遗传的心肌肌钙蛋白I突变的功能复杂性：钙离子独立的收缩功能障碍的鉴定。
6. Identification and functional characterization of novel mutations including frameshift mutation in exon 4 of CSF1R in patients with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia [O] . Takeshi Miura, Naomi Mezaki, Takuya Konno, -1

机译：成年白细胞病伴轴突球状体和色素性胶质细胞增生的患者中CSF1R外显子4的新突变包括移码突变的鉴定和功能表征
7. Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia caused by a novel R782G mutation in CSF1R [O] . Foulds, Nicola, Pengelly, Reuben, Hammans, Simon R., 2015

机译：CsF1R中新型R782G突变引起的成人发病性白质脑病伴轴突球状体和色素性胶质细胞

Identification and functional characterization of novel mutations including frameshift mutation in exon 4 of CSF1R in patients with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia

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