Literature DB >> 25697102

Crowdfunding effort identifies the causative mutation in a patient with nystagmus, microcephaly, dystonia and hypomyelination.

Ofer Isakov1, Dorit Lev2, Lubov Blumkin3, Gershon Celniker1, Esther Leshinsky-Silver4, Noam Shomron5.   

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Year:  2015        PMID： 25697102     DOI： 10.1016/j.jgg.2014.12.004

Source DB:  PubMed          Journal:  J Genet Genomics        ISSN： 1673-8527            Impact factor:   4.275


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  6 in total

1.  Understanding molecular mechanisms and predicting phenotypic effects of pathogenic tubulin mutations.

Authors:  Thomas J Attard; Julie P I Welburn; Joseph A Marsh
Journal:  PLoS Comput Biol       Date:  2022-10-07       Impact factor: 4.779

2.  A TUBB4A Met363Thr variant in pediatric hypomyelination without atrophy of the basal ganglia.

Authors:  Marina Hashiguchi; Yukifumi Monden; Yasuyuki Nozaki; Kazuki Watanabe; Mitsuko Nakashima; Hirotomo Saitsu; Takanori Yamagata; Hitoshi Osaka
Journal:  Hum Genome Var       Date:  2022-06-03

3.  A novel TUBB4A mutation G96R identified in a patient with hypomyelinating leukodystrophy onset beyond adolescence.

Authors:  Yongping Lu; Yumiko Ondo; Keiko Shimojima; Hitoshi Osaka; Toshiyuki Yamamoto
Journal:  Hum Genome Var       Date:  2017-08-03

4.  In-silico phenotype prediction by normal mode variant analysis in TUBB4A-related disease.

Authors:  Oded Shor; Felix Benninger; Avi Fellner; Yael Goldberg; Dorit Lev; Lina Basel-Salmon
Journal:  Sci Rep       Date:  2022-01-07       Impact factor: 4.379

5.  An overview of Fintech applications to solve the puzzle of health care funding: state-of-the-art in medical crowdfunding.

Authors:  Laura Grassi; Simone Fantaccini
Journal:  Financ Innov       Date:  2022-09-19

6.  Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients.

Authors:  Haoran Ji; Dongxiao Li; Ye Wu; Quanli Zhang; Qiang Gu; Han Xie; Taoyun Ji; Huifang Wang; Lu Zhao; Haijuan Zhao; Yanling Yang; Hongchun Feng; Hui Xiong; Jinhua Ji; Zhixian Yang; Liping Kou; Ming Li; Xinhua Bao; Xingzhi Chang; Yuehua Zhang; Li Li; Huijuan Li; Zhengping Niu; Xiru Wu; Jiangxi Xiao; Yuwu Jiang; Jingmin Wang
Journal:  PLoS One       Date:  2018-02-16       Impact factor: 3.240
  6 in total

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