Literature DB >> 31173719

Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.

Mohammad Ali Farazi Fard, Adriana P Rebelo, Elena Buglo, Hamid Nemati, Hassan Dastsooz, Ina Gehweiler, Selina Reich, Jennifer Reichbauer, Beatriz Quintáns, Andrés Ordóñez-Ugalde, Andrea Cortese, Steve Courel, Lisa Abreu, Eric Powell, Matt C Danzi, Nicole B Martuscelli, Dana M Bis-Brewer, Feifei Tao, Fariba Zarei, Parham Habibzadeh, Majid Yavarian, Farzaneh Modarresi, Mohammad Silawi, Zahra Tabatabaei, Masoume Yousefi, Hamid Reza Farpour, Christoph Kessler, Elisabeth Mangold, Xenia Kobeleva, Ivailo Tournev, Teodora Chamova, Amelie J Mueller, Tobias B Haack, Mark Tarnopolsky, Ziv Gan-Or, Guy A Rouleau, Matthis Synofzik, María-Jesús Sobrido, Albena Jordanova, Rebecca Schüle, Stephan Zuchner, Mohammad Ali Faghihi.   

Abstract

Entities:  

Year:  2019        PMID: 31173719      PMCID: PMC6557723          DOI: 10.1016/j.ajhg.2019.05.009

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN: 0002-9297            Impact factor:   11.025


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  3 in total

1.  Two novel truncating variants in UBAP1 are responsible for hereditary spastic paraplegia.

Authors:  Xinchao Bian; Guangying Cheng; Xinbo Sun; Hongkun Liu; Xiangmao Zhang; Yu Han; Bo Li; Ning Li
Journal:  PLoS One       Date:  2021-06-30       Impact factor: 3.240

2.  A novel UBAP1 truncated variant in a Chinese family with hereditary spastic paraplegia.

Authors:  Qiao Wei; Pei-Shan Wang; Hai-Lin Dong; Wen-Jiao Luo; Zhi-Ying Wu; Hong-Fu Li
Journal:  Mol Genet Genomic Med       Date:  2022-03-29       Impact factor: 2.183

3.  Clinical characteristics of Taiwanese patients with Hereditary spastic paraplegia type 5.

Authors:  Cheng-Ta Chou; Bing-Wen Soong; Kon-Ping Lin; Yu-Shuen Tsai; Kang-Yang Jih; Yi-Chu Liao; Yi-Chung Lee
Journal:  Ann Clin Transl Neurol       Date:  2020-03-22       Impact factor: 4.511

  3 in total

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