Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia-Reference-Cited by-同舟云学术

Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia

Published:2019-06 Issue:6 Volume:104 Page:1251
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

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

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Cited by 6 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. TOPORS as a novel causal gene for Joubert syndrome;American Journal of Medical Genetics Part A;2023-05-25

2. Decoding hereditary spastic paraplegia pathogenicity through transcriptomic profiling;Zoological Research;2023

3. A novel UBAP1 truncated variant in a Chinese family with hereditary spastic paraplegia;Molecular Genetics & Genomic Medicine;2022-03-29

4. Novel Frameshift Heterozygous Mutation in UBAP1 Gene Causing Spastic Paraplegia-80: Case Report With Literature Review;Frontiers in Neurology;2022-03-07

5. Two novel truncating variants in UBAP1 are responsible for hereditary spastic paraplegia;PLOS ONE;2021-06-30